Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Phc1'

511850

Institutional Source

Beutler Lab

Gene Symbol

Phc1

Ensembl Gene

ENSMUSG00000040669

Gene Name

polyhomeotic 1

Synonyms

rae28, Mph1, Rae-28, Edr1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4976 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

122294690-122317520 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

TG to TGCTGCGG at 122300559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079560] [ENSMUST00000081849] [ENSMUST00000112600] [ENSMUST00000159252] [ENSMUST00000160163] [ENSMUST00000160696] [ENSMUST00000160843] [ENSMUST00000161054] [ENSMUST00000161739]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079560

SMART Domains

Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	240	303	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
low complexity region	373	416	N/A	INTRINSIC
coiled coil region	420	446	N/A	INTRINSIC
low complexity region	448	480	N/A	INTRINSIC
low complexity region	485	506	N/A	INTRINSIC
low complexity region	524	535	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	575	587	N/A	INTRINSIC
low complexity region	617	628	N/A	INTRINSIC
low complexity region	704	722	N/A	INTRINSIC
Pfam:zf-FCS	798	833	4.9e-8	PFAM
low complexity region	855	869	N/A	INTRINSIC
SAM	943	1010	9.57e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081849

SMART Domains

Protein: ENSMUSP00000080532
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	188	251	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
low complexity region	321	364	N/A	INTRINSIC
coiled coil region	368	394	N/A	INTRINSIC
low complexity region	396	428	N/A	INTRINSIC
low complexity region	433	454	N/A	INTRINSIC
low complexity region	472	483	N/A	INTRINSIC
low complexity region	491	504	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
low complexity region	652	670	N/A	INTRINSIC
Pfam:zf-FCS	746	781	4.6e-8	PFAM
low complexity region	803	817	N/A	INTRINSIC
SAM	891	958	9.57e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112600

SMART Domains

Protein: ENSMUSP00000108219
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	188	251	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
low complexity region	321	364	N/A	INTRINSIC
coiled coil region	368	394	N/A	INTRINSIC
low complexity region	396	428	N/A	INTRINSIC
low complexity region	433	454	N/A	INTRINSIC
low complexity region	472	483	N/A	INTRINSIC
low complexity region	491	504	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
low complexity region	652	670	N/A	INTRINSIC
Pfam:zf-FCS	746	781	4.6e-8	PFAM
low complexity region	803	817	N/A	INTRINSIC
SAM	891	958	9.57e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159252

SMART Domains

Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	46	65	N/A	INTRINSIC
low complexity region	137	151	N/A	INTRINSIC
low complexity region	195	258	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
low complexity region	328	371	N/A	INTRINSIC
coiled coil region	375	401	N/A	INTRINSIC
low complexity region	403	435	N/A	INTRINSIC
low complexity region	440	461	N/A	INTRINSIC
low complexity region	479	490	N/A	INTRINSIC
low complexity region	498	511	N/A	INTRINSIC
low complexity region	530	542	N/A	INTRINSIC
low complexity region	572	583	N/A	INTRINSIC
low complexity region	659	677	N/A	INTRINSIC
Pfam:zf-FCS	753	788	2.2e-8	PFAM
low complexity region	810	824	N/A	INTRINSIC
SAM	898	965	9.57e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160163

SMART Domains

Protein: ENSMUSP00000125545
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160696

SMART Domains

Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	240	303	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
low complexity region	373	416	N/A	INTRINSIC
coiled coil region	420	446	N/A	INTRINSIC
low complexity region	448	480	N/A	INTRINSIC
low complexity region	485	506	N/A	INTRINSIC
low complexity region	524	535	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	575	587	N/A	INTRINSIC
low complexity region	617	628	N/A	INTRINSIC
low complexity region	704	722	N/A	INTRINSIC
Pfam:PHC2_SAM_assoc	834	941	3.4e-31	PFAM
SAM	943	1010	9.57e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160843

SMART Domains

Protein: ENSMUSP00000125030
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161054

SMART Domains

Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	188	251	N/A	INTRINSIC
low complexity region	278	289	N/A	INTRINSIC
low complexity region	321	364	N/A	INTRINSIC
coiled coil region	368	394	N/A	INTRINSIC
low complexity region	396	428	N/A	INTRINSIC
low complexity region	433	454	N/A	INTRINSIC
low complexity region	472	483	N/A	INTRINSIC
low complexity region	491	504	N/A	INTRINSIC
low complexity region	523	535	N/A	INTRINSIC
low complexity region	565	576	N/A	INTRINSIC
low complexity region	652	670	N/A	INTRINSIC
Pfam:zf-FCS	746	781	4.6e-8	PFAM
low complexity region	803	817	N/A	INTRINSIC
SAM	891	958	9.57e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161739

SMART Domains

Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC
low complexity region	83	102	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	240	303	N/A	INTRINSIC
low complexity region	330	341	N/A	INTRINSIC
low complexity region	373	416	N/A	INTRINSIC
coiled coil region	420	446	N/A	INTRINSIC
low complexity region	448	480	N/A	INTRINSIC
low complexity region	485	506	N/A	INTRINSIC
low complexity region	524	535	N/A	INTRINSIC
low complexity region	543	556	N/A	INTRINSIC
low complexity region	575	587	N/A	INTRINSIC
low complexity region	617	628	N/A	INTRINSIC
low complexity region	704	722	N/A	INTRINSIC
Pfam:zf-FCS	798	833	4.9e-8	PFAM
low complexity region	855	869	N/A	INTRINSIC
SAM	943	1010	9.57e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161877

SMART Domains

Protein: ENSMUSP00000123854
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161290

SMART Domains

Protein: ENSMUSP00000125110
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	17	29	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 96.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila polyhomeotic gene, which is a member of the Polycomb group of genes. The gene product is a component of a multimeric protein complex that contains EDR2 and the vertebrate Polycomb protein BMH1. The gene product, the EDR2 protein, and the Drosophila polyhomeotic protein share 2 highly conserved domains, named homology domains I and II. These domains are involved in protein-protein interactions and may mediate heterodimerization of the protein encoded by this gene and the EDR2 protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice exhibit perinatal lethality, posterior skeletal transformations and defects in neural crest derived tissues, including ocular abnormalities, cleft palate, parathyroid and thymic hypoplasia and cardiac anomalies. Hematopoiesis is impaired in fetal livers. [provided by MGI curators]

Allele List at MGI

All alleles(147) : Targeted, knock-out(1) Gene trapped(146)

Other mutations in this stock

Total: 222 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,634,881 (GRCm39)		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,634,884 (GRCm39)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,607,881 (GRCm39)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,475,257 (GRCm39)		probably benign	Het
Akap12	AAA	AAACAA	10: 4,303,837 (GRCm39)		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,062,425 (GRCm39)		probably null	Homo
Alg9	G	GCGA	9: 50,686,731 (GRCm39)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,162,544 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	AATAAAGC	AATAAAGCCTATAAAGC	18: 34,415,053 (GRCm39)		probably benign	Het
Apc	CCAATAAAG	CCAATAAAGTCAATAAAG	18: 34,415,051 (GRCm39)		probably benign	Het
Apc	AAGC	AAGCCAATATAGC	18: 34,415,057 (GRCm39)		probably null	Het
Atad3a	C	A	4: 155,838,396 (GRCm39)	R207L	probably damaging	Homo
Blm	ACCT	ACCTCCCT	7: 80,113,515 (GRCm39)		probably benign	Homo
Blm	TCCTCCTCCTCCTCCTCCTCCTCC	TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,655 (GRCm39)		probably benign	Het
Bmp5	GAGGAGT	G	9: 75,683,657 (GRCm39)		probably benign	Homo
Bpifa6	A	T	2: 153,828,296 (GRCm39)	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,828,318 (GRCm39)	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,814,755 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 85,365,346 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 85,365,355 (GRCm39)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,129,701 (GRCm39)		probably benign	Het
Catsper2	TGTC	TGTCGTC	2: 121,228,260 (GRCm39)		probably benign	Homo
Catsper2	C	CTTTTACTTTTTT	2: 121,228,023 (GRCm39)		probably benign	Homo
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,228,276 (GRCm39)		probably benign	Het
Catsper2	CAT	CATTAT	2: 121,228,263 (GRCm39)		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,511,008 (GRCm39)		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,511,029 (GRCm39)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,511,023 (GRCm39)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,152,939 (GRCm39)		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,152,941 (GRCm39)		probably benign	Het
Cep112	G	GCTCT	11: 108,316,178 (GRCm39)		probably benign	Het
Cep89	GACT	G	7: 35,109,066 (GRCm39)		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,218,846 (GRCm39)		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,099,094 (GRCm39)		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,560,346 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTACT	17: 47,047,673 (GRCm39)		probably null	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,080,398 (GRCm39)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,080,411 (GRCm39)		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,080,414 (GRCm39)		probably benign	Het
Cntnap1	A	ACCCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Col4a3	CGTTTTTTTTTTTTTTTT	C	1: 82,696,627 (GRCm39)		probably null	Het
Cpne1	AGA	AGAGAGA	2: 155,913,945 (GRCm39)		probably null	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cracdl	A	G	1: 37,664,183 (GRCm39)	S47P	probably damaging	Homo
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,685,650 (GRCm39)		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,466 (GRCm39)		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,460 (GRCm39)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,811,776 (GRCm39)		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,779 (GRCm39)		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,811,782 (GRCm39)		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cybrd1	GAAT	G	2: 70,968,855 (GRCm39)		probably benign	Homo
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,742 (GRCm39)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,745 (GRCm39)		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,465,754 (GRCm39)		probably benign	Het
Dbr1	GG	GGAGGAAG	9: 99,465,755 (GRCm39)		probably benign	Het
Dcaf8	C	T	1: 172,000,423 (GRCm39)	H194Y	probably damaging	Homo
Dennd10	ACTC	ACTCCTC	19: 60,803,056 (GRCm39)		probably benign	Homo
Dennd10	T	TTCA	19: 60,803,060 (GRCm39)		probably benign	Homo
Dnaaf9	C	CTCG	2: 130,612,673 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,612,659 (GRCm39)		probably benign	Het
Dnaaf9	TCC	TCCACC	2: 130,612,662 (GRCm39)		probably benign	Het
Dnajc19	AC	ACGC	3: 34,112,143 (GRCm39)		probably null	Het
Dthd1	GAC	GACTAC	5: 63,000,367 (GRCm39)		probably benign	Homo
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,763,729 (GRCm39)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 57,938,092 (GRCm39)		probably benign	Het
Ermn	TC	TCTAC	2: 57,938,100 (GRCm39)		probably benign	Het
Fbxo38	TGCAGC	TGC	18: 62,648,418 (GRCm39)		probably benign	Het
Frem3	CT	CTTGT	8: 81,341,870 (GRCm39)		probably benign	Homo
Fsip2	TT	TTTTTCT	2: 82,814,709 (GRCm39)		probably benign	Het
Fsip2	TTTTT	TTTTTGTTTT	2: 82,814,706 (GRCm39)		probably benign	Het
Gabre	T	TGAGGCC	X: 71,314,028 (GRCm39)		probably benign	Homo
Gabre	AGGCT	AGGCTGCGGCT	X: 71,314,024 (GRCm39)		probably benign	Homo
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Homo
Gm14393	T	G	2: 174,903,613 (GRCm39)	N98T	probably benign	Het
Gm16503	G	A	4: 147,625,710 (GRCm39)	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,255,061 (GRCm39)		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,031,940 (GRCm39)		probably benign	Het
Gm6309	C	T	5: 146,104,993 (GRCm39)	V307I	probably benign	Het
Golga5	G	A	12: 102,441,919 (GRCm39)		probably null	Homo
Gpatch11	AGGAA	AGGAAGTGGAA	17: 79,149,609 (GRCm39)		probably benign	Het
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 79,149,602 (GRCm39)		probably null	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 79,149,601 (GRCm39)		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 79,149,600 (GRCm39)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 79,149,599 (GRCm39)		probably benign	Het
H2-K2	GTTT	G	17: 34,216,016 (GRCm39)		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 118,112,344 (GRCm39)		probably benign	Homo
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Igf1r	C	CTGGAGATGGAGA	7: 67,875,934 (GRCm39)		probably benign	Het
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 67,875,929 (GRCm39)		probably benign	Het
Il17rd	CGG	CGGTGG	14: 26,804,634 (GRCm39)		probably benign	Het
Il2	GG	GGGGCTTGAAGTAG	3: 37,179,978 (GRCm39)		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,314,019 (GRCm39)		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,510,469 (GRCm39)		probably benign	Het
Irag2	CACATTG	CACATTGAGGACATTG	6: 145,119,511 (GRCm39)		probably benign	Homo
Isg20l2	AAG	AAGTAG	3: 87,839,022 (GRCm39)		probably null	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,285,789 (GRCm39)		probably null	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,798 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,785 (GRCm39)		probably benign	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,285,787 (GRCm39)		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,520,761 (GRCm39)		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,488,830 (GRCm39)		probably benign	Homo
Las1l	AGG	AGGGGG	X: 94,984,433 (GRCm39)		probably benign	Het
Las1l	A	AGGC	X: 94,984,439 (GRCm39)		probably benign	Het
Las1l	GA	GAGAA	X: 94,984,438 (GRCm39)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 92,925,455 (GRCm39)		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,357,854 (GRCm39)		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,597,559 (GRCm39)		probably benign	Homo
Mamld1	GCA	GCAACA	X: 70,162,424 (GRCm39)		probably benign	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mast4	TGG	TGGGGGCGG	13: 102,872,820 (GRCm39)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,875,755 (GRCm39)		probably null	Homo
Med12l	GCA	GCACCA	3: 59,183,398 (GRCm39)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,567,568 (GRCm39)		probably benign	Het
Morf4l2	T	C	X: 135,634,371 (GRCm39)	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm39)	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,067,587 (GRCm39)		probably benign	Het
Nacad	C	CAGGGTA	11: 6,549,763 (GRCm39)		probably benign	Het
Nacad	A	ACCAGGG	11: 6,549,749 (GRCm39)		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,549,756 (GRCm39)		probably benign	Het
Nars1	CCACTCAC	CCAC	18: 64,643,516 (GRCm39)		probably benign	Homo
Ndufc2	C	T	7: 97,049,481 (GRCm39)	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,412,678 (GRCm39)	T282M	probably damaging	Homo
Noc2l	CTG	CTGGTG	4: 156,324,555 (GRCm39)		probably benign	Het
Noc2l	AGGC	AGGCGGC	4: 156,324,549 (GRCm39)		probably benign	Homo
Nolc1	AGC	AGCAGCAGCGGC	19: 46,069,814 (GRCm39)		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,069,795 (GRCm39)		probably benign	Het
Or10j2	GGGCTGCTTGTGGCAAT	G	1: 173,098,197 (GRCm39)		probably null	Het
Or51f1e	T	TTAC	7: 102,747,516 (GRCm39)		probably benign	Homo
Or51v8	AG	AGAGG	7: 103,320,173 (GRCm39)		probably benign	Homo
Or52b4	A	AAACCG	7: 102,184,888 (GRCm39)		probably null	Homo
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Homo
Patl2	GCT	GCTTCT	2: 121,956,622 (GRCm39)		probably benign	Het
Patl2	CTG	CTGGTG	2: 121,956,620 (GRCm39)		probably benign	Het
Patl2	C	CTGA	2: 121,956,626 (GRCm39)		probably benign	Het
Patl2	GC	GCTTC	2: 121,956,625 (GRCm39)		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,817 (GRCm39)		probably benign	Homo
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,844,104 (GRCm39)		probably benign	Het
Pick1	TTC	TTCTC	15: 79,140,146 (GRCm39)		probably null	Homo
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,270,384 (GRCm39)		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,612,652 (GRCm39)		probably null	Homo
Pitrm1	TTTTA	T	13: 6,610,632 (GRCm39)		probably benign	Homo
Pogz	GTAAT	G	3: 94,782,006 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,507,172 (GRCm39)		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,571,037 (GRCm39)		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,370,611 (GRCm39)		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,370,606 (GRCm39)		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,891,417 (GRCm39)		probably benign	Homo
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,209,345 (GRCm39)		probably benign	Het
Rpgrip1	GGA	GGATGA	14: 52,386,851 (GRCm39)		probably benign	Het
Rpgrip1	GGAAGAAGA	GGA	14: 52,387,001 (GRCm39)		probably benign	Het
Rps19	AGCGG	AG	7: 24,588,421 (GRCm39)		probably benign	Homo
Rsf1	G	GACC	7: 97,229,116 (GRCm39)		probably benign	Homo
Serpina3m	A	G	12: 104,324,882 (GRCm39)		probably null	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,384,479 (GRCm39)		probably benign	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,384,488 (GRCm39)		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,646,815 (GRCm39)		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,373,060 (GRCm39)		probably benign	Homo
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,373,055 (GRCm39)		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,536,128 (GRCm39)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,928,786 (GRCm39)		probably benign	Het
Six3	CG	CGGGG	17: 85,928,799 (GRCm39)		probably benign	Het
Skint8	C	T	4: 111,796,099 (GRCm39)	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,621,824 (GRCm39)		probably benign	Homo
Smpx	CCCCCA	C	X: 156,503,920 (GRCm39)		probably benign	Homo
Snx1	C	CTTT	9: 66,012,212 (GRCm39)		probably benign	Homo
Snx1	TC	TCTGC	9: 66,012,211 (GRCm39)		probably benign	Homo
Sp110	CT	CTAAT	1: 85,515,210 (GRCm39)		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849 (GRCm39)		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844 (GRCm39)		probably benign	Het
Spag17	GGA	GGACGA	3: 99,963,571 (GRCm39)		probably benign	Het
Spag17	AGG	AGGTGG	3: 99,963,570 (GRCm39)		probably benign	Het
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841 (GRCm39)		probably benign	Homo
Stard8	AGG	AGGTGG	X: 98,110,119 (GRCm39)		probably benign	Het
Stard8	AGG	AGGTGG	X: 98,110,131 (GRCm39)		probably benign	Het
Stk10	CCCA	C	11: 32,564,520 (GRCm39)		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,424,673 (GRCm39)		probably benign	Homo
Tbc1d5	G	C	17: 51,106,959 (GRCm39)	H532Q	probably benign	Homo
Tbc1d5	C	G	17: 51,106,971 (GRCm39)	Q528H	probably benign	Homo
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tmcc1	G	A	6: 116,170,341 (GRCm39)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,105,298 (GRCm39)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,562,756 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	GAA	GAATAA	14: 53,887,211 (GRCm39)		probably null	Het
Trav15-2-dv6-2	G	GAAC	14: 53,887,214 (GRCm39)		probably benign	Homo
Trim16	GTGA	GTGATGA	11: 62,711,515 (GRCm39)		probably benign	Homo
Tsbp1	AGC	AGCGGC	17: 34,679,032 (GRCm39)		probably benign	Het
Tsbp1	AGC	AGCGGC	17: 34,679,035 (GRCm39)		probably benign	Het
Tsen2	AGG	AGGCGG	6: 115,537,027 (GRCm39)		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,197,785 (GRCm39)		probably benign	Het
Vmn1r124	G	T	7: 20,993,861 (GRCm39)	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,482,048 (GRCm39)	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,614,547 (GRCm39)	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,862,564 (GRCm39)		probably benign	Homo
Zfp111	T	G	7: 23,898,462 (GRCm39)	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 23,899,232 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,881,724 (GRCm39)		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,749,398 (GRCm39)		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,749,394 (GRCm39)		probably benign	Het
Zfp459	A	AGTGG	13: 67,556,395 (GRCm39)		probably null	Homo
Zfp459	TGA	TGAGAGA	13: 67,556,393 (GRCm39)		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,556,394 (GRCm39)		probably null	Homo
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760 (GRCm39)		probably benign	Het
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761 (GRCm39)		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,898,346 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,756 (GRCm39)		probably benign	Het
Zfp683	AG	AGGGG	4: 133,786,190 (GRCm39)		probably benign	Homo
Zpld2	TG	TGCCG	4: 133,929,941 (GRCm39)		probably benign	Homo

Other mutations in Phc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Phc1	APN	6	122,299,958 (GRCm39)	splice site	probably benign
IGL01354:Phc1	APN	6	122,311,042 (GRCm39)	missense	probably damaging	1.00
IGL01786:Phc1	APN	6	122,296,479 (GRCm39)	missense	possibly damaging	0.82
IGL02110:Phc1	APN	6	122,298,994 (GRCm39)	missense	possibly damaging	0.91
IGL02479:Phc1	APN	6	122,300,676 (GRCm39)	unclassified	probably benign
IGL02861:Phc1	APN	6	122,300,748 (GRCm39)	unclassified	probably benign
IGL03106:Phc1	APN	6	122,300,428 (GRCm39)	unclassified	probably benign
3-1:Phc1	UTSW	6	122,315,423 (GRCm39)	intron	probably benign
FR4737:Phc1	UTSW	6	122,300,557 (GRCm39)	small insertion	probably benign
R0452:Phc1	UTSW	6	122,299,995 (GRCm39)	missense	probably damaging	1.00
R1146:Phc1	UTSW	6	122,300,416 (GRCm39)	unclassified	probably benign
R1146:Phc1	UTSW	6	122,300,416 (GRCm39)	unclassified	probably benign
R1301:Phc1	UTSW	6	122,302,833 (GRCm39)	missense	probably benign	0.03
R1738:Phc1	UTSW	6	122,295,525 (GRCm39)	missense	probably damaging	1.00
R2056:Phc1	UTSW	6	122,310,299 (GRCm39)	missense	probably damaging	0.99
R2164:Phc1	UTSW	6	122,299,296 (GRCm39)	missense	possibly damaging	0.82
R2183:Phc1	UTSW	6	122,300,284 (GRCm39)	missense	probably damaging	1.00
R2424:Phc1	UTSW	6	122,297,002 (GRCm39)	missense	probably damaging	0.98
R4378:Phc1	UTSW	6	122,311,966 (GRCm39)	missense	possibly damaging	0.66
R4648:Phc1	UTSW	6	122,298,872 (GRCm39)	missense	possibly damaging	0.95
R4831:Phc1	UTSW	6	122,313,964 (GRCm39)	start gained	probably benign
R5244:Phc1	UTSW	6	122,298,938 (GRCm39)	missense	probably damaging	1.00
R5475:Phc1	UTSW	6	122,311,051 (GRCm39)	missense	possibly damaging	0.95
R6491:Phc1	UTSW	6	122,311,923 (GRCm39)
R6701:Phc1	UTSW	6	122,302,733 (GRCm39)	missense	probably damaging	0.96
R6733:Phc1	UTSW	6	122,313,845 (GRCm39)	missense	possibly damaging	0.77
R7022:Phc1	UTSW	6	122,311,990 (GRCm39)	missense	probably damaging	0.98
R7383:Phc1	UTSW	6	122,300,317 (GRCm39)	missense	unknown
R7707:Phc1	UTSW	6	122,300,739 (GRCm39)	missense	unknown
R7825:Phc1	UTSW	6	122,299,340 (GRCm39)	missense	probably benign	0.26
R7846:Phc1	UTSW	6	122,310,329 (GRCm39)	missense	probably damaging	1.00
R8314:Phc1	UTSW	6	122,297,937 (GRCm39)	missense	unknown
R8346:Phc1	UTSW	6	122,302,774 (GRCm39)	missense	probably damaging	0.98
R8534:Phc1	UTSW	6	122,315,539 (GRCm39)	intron	probably benign
RF036:Phc1	UTSW	6	122,300,539 (GRCm39)	small insertion	probably benign
RF041:Phc1	UTSW	6	122,300,559 (GRCm39)	small insertion	probably benign
RF044:Phc1	UTSW	6	122,300,559 (GRCm39)	small insertion	probably benign
RF064:Phc1	UTSW	6	122,300,539 (GRCm39)	small insertion	probably benign
X0024:Phc1	UTSW	6	122,300,588 (GRCm39)	small deletion	probably benign
X0026:Phc1	UTSW	6	122,296,497 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- TTGATAGGCGCTACAGGAGG -3'
(R):5'- CACTGATTCAGCAACAGCAG -3'

Sequencing Primer
(F):5'- CGCTACAGGAGGTTTGGAC -3'
(R):5'- TGATTCAGCAACAGCAGCAGATC -3'

Posted On

2018-04-05