Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4737:Phc1'

511641

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 #

FR4737 ()

Quality Score

217.469

Status

Not validated

Chromosome

Chromosomal Location

122294690-122317520 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

GCTG to GCTGCTTCTG at 122300557 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] [ENSMUST00000161739] [ENSMUST00000161054]

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: 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

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

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: 98.8%
20x: 97.0%

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: 211 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TCT	TCTCCT	12: 110,634,882 (GRCm39)		probably benign	Het
A630001G21Rik	CTGTT	CT	1: 85,650,856 (GRCm39)		probably benign	Homo
Abcb11	C	A	2: 69,073,862 (GRCm39)	R1221L	probably damaging	Homo
Abcb4	GAAA	G	5: 8,946,597 (GRCm39)		probably benign	Homo
Ahdc1	CT	CTCGT	4: 132,790,070 (GRCm39)		probably benign	Homo
Alpk3	TCT	TCTACT	7: 80,727,510 (GRCm39)		probably benign	Het
Amfr	C	G	8: 94,731,787 (GRCm39)	G30R	probably damaging	Homo
Ankrd35	GC	GCTAC	3: 96,591,165 (GRCm39)		probably benign	Homo
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Homo
Apc	CAATAAAGC	CAATAAAGCTAATAAAGC	18: 34,415,052 (GRCm39)		probably benign	Homo
Apol6	GTTT	GTTTCTTT	15: 76,935,642 (GRCm39)		probably null	Homo
Arpc1b	GGTGGC	GGTGGCGTGGC	5: 145,063,597 (GRCm39)		probably null	Het
AY358078	C	T	14: 52,043,155 (GRCm39)	S281L	unknown	Homo
Blm	ACCTGC	ACCTGCCTGC	7: 80,113,519 (GRCm39)		probably null	Het
Blm	T	TACCA	7: 80,113,522 (GRCm39)		probably null	Het
Bltp1	TTATTAT	TTATTATTATTATTACTATTAT	3: 37,104,903 (GRCm39)		probably benign	Het
Blzf1	TTGT	TT	1: 164,131,486 (GRCm39)		probably null	Homo
Btnl10	A	AAGG	11: 58,814,757 (GRCm39)		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 85,365,349 (GRCm39)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 85,365,355 (GRCm39)		probably benign	Homo
Catsper2	TTC	TTCTTTTACTTTGTC	2: 121,228,021 (GRCm39)		probably benign	Homo
Ccdc170	ACC	ACCTCC	10: 4,511,023 (GRCm39)		probably benign	Het
Ccdc170	AC	ACCCC	10: 4,511,029 (GRCm39)		probably benign	Het
Ccdc73	TAAG	T	2: 104,822,185 (GRCm39)		probably benign	Homo
Ccnk	TTCCCAC	T	12: 108,168,766 (GRCm39)		probably benign	Het
Cdan1	A	C	2: 120,555,452 (GRCm39)	V763G	probably damaging	Het
Cdk6	A	G	5: 3,394,211 (GRCm39)		probably benign	Het
Cdx1	TGCTGC	TGCTGCCGCTGC	18: 61,152,946 (GRCm39)		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,152,950 (GRCm39)		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,218,846 (GRCm39)		probably benign	Homo
Chd4	GC	GCTCCCCC	6: 125,099,094 (GRCm39)		probably benign	Homo
Cluh	GAGCCT	GAGCCTAAGCCT	11: 74,560,350 (GRCm39)		probably benign	Het
Cluh	CC	CCTGAGGC	11: 74,560,359 (GRCm39)		probably benign	Het
Cluh	CCCCGAGCC	CCCCGAGCCCGAGCC	11: 74,560,340 (GRCm39)		probably benign	Het
Cluh	AGCCTG	AGCCTGCGCCTG	11: 74,560,345 (GRCm39)		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,080,408 (GRCm39)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCGCCAGC	11: 101,080,416 (GRCm39)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,080,395 (GRCm39)		probably benign	Het
Cntnap1	GCCCCA	GCCCCAACCCCA	11: 101,080,402 (GRCm39)		probably benign	Het
Cracdl	T	A	1: 37,664,116 (GRCm39)	E594V	probably benign	Homo
Cracdl	C	A	1: 37,664,117 (GRCm39)	E594*	probably null	Homo
Cul9	CTC	CTCTTC	17: 46,811,784 (GRCm39)		probably benign	Het
Cul9	CTCTTC	CTCTTCTTC	17: 46,811,772 (GRCm39)		probably benign	Het
Cyth2	C	A	7: 45,462,466 (GRCm39)	S102I	possibly damaging	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,465,739 (GRCm39)		probably benign	Het
Dbr1	GGAGG	GGAGGACGAGG	9: 99,465,752 (GRCm39)		probably benign	Het
Dennd2b	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,156,128 (GRCm39)		probably benign	Het
Dhx8	GACCGA	GACCGATACCGA	11: 101,629,005 (GRCm39)		probably benign	Homo
Dhx8	GAGACC	GAGACCCAGACC	11: 101,629,015 (GRCm39)		probably benign	Homo
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,629,008 (GRCm39)		probably benign	Homo
Dnaaf9	CC	CCTGC	2: 130,612,672 (GRCm39)		probably benign	Het
Dnah8	ACTGCCCCT	ACT	17: 30,854,439 (GRCm39)		probably benign	Het
Dnah8	CCTCCCG	C	17: 30,854,451 (GRCm39)		probably benign	Homo
Dnajb5	AGGTG	A	4: 42,957,126 (GRCm39)		probably null	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Homo
E4f1	CCG	CCGACG	17: 24,674,166 (GRCm39)		probably benign	Homo
Eif3a	TTA	TTATTATA	19: 60,763,727 (GRCm39)		probably benign	Het
Fam81b	TTC	TTCGTC	13: 76,419,438 (GRCm39)		probably benign	Het
Fbxo22	G	A	9: 55,116,666 (GRCm39)	R56H	probably damaging	Het
Fcgr1	CTTCT	C	3: 96,191,820 (GRCm39)		probably null	Het
Fcgr1	T	C	3: 96,194,410 (GRCm39)	D159G	probably benign	Homo
Fmn1	CC	CCTCCTTC	2: 113,356,129 (GRCm39)		probably benign	Het
Fmn1	CCTCCT	CCTCCTACTCCT	2: 113,356,123 (GRCm39)		probably benign	Het
Fmn1	CC	CCCCCTGC	2: 113,356,126 (GRCm39)		probably benign	Het
G530012D18Rik	GA	GACAGAGATA	1: 85,504,899 (GRCm39)		probably null	Het
Gli3	G	A	13: 15,818,942 (GRCm39)	R248H	probably damaging	Het
Gm16503	G	A	4: 147,625,710 (GRCm39)	G68E	unknown	Het
Gm19345	GGATGGCAGGTG	GG	7: 19,591,527 (GRCm39)		probably null	Het
Gm4340	AGC	AGCTGC	10: 104,031,958 (GRCm39)		probably benign	Het
Gm4340	AG	AGCGG	10: 104,031,961 (GRCm39)		probably benign	Het
Gm4340	GCA	GCAACA	10: 104,031,938 (GRCm39)		probably benign	Het
Gm6309	C	T	5: 146,104,993 (GRCm39)	V307I	probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 79,149,600 (GRCm39)		probably benign	Het
Gpatch11	AGGAA	AGGAAGCGGAA	17: 79,149,609 (GRCm39)		probably benign	Het
Hoxa10	T	A	6: 52,211,166 (GRCm39)	Q250L	possibly damaging	Homo
Hrh1	T	C	6: 114,458,084 (GRCm39)	I455T	possibly damaging	Het
Hspa1b	GCGCC	GC	17: 35,176,105 (GRCm39)		probably benign	Homo
Iba57	GAAA	GAAAAA	11: 59,052,331 (GRCm39)		probably null	Homo
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 67,875,929 (GRCm39)		probably benign	Het
Il17rd	CGG	CGGAGG	14: 26,804,637 (GRCm39)		probably benign	Het
Il2	TGG	TGGGGCTTGAAGCGG	3: 37,179,977 (GRCm39)		probably benign	Het
Il2	AGGTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTGCTGCTGCTG	3: 37,179,913 (GRCm39)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Homo
Klra2	G	GAAATCCACAT	6: 131,198,815 (GRCm39)		probably null	Het
Kmt2b	CCTCCT	CCTCCTTCTCCT	7: 30,285,792 (GRCm39)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,285,795 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,803 (GRCm39)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,285,791 (GRCm39)		probably benign	Het
Krt10	TCCTCC	TCCTCCGCCTCC	11: 99,280,099 (GRCm39)		probably benign	Het
Krt10	TCCGCC	TCCGCCGCC	11: 99,277,023 (GRCm39)		probably benign	Homo
Krt10	TCC	TCCTCCACC	11: 99,280,105 (GRCm39)		probably benign	Homo
Krtap28-10	TCCCACA	TCCCACACCCACA	1: 83,019,844 (GRCm39)		probably benign	Homo
Krtap4-2	A	ACAC	11: 99,525,839 (GRCm39)		probably benign	Het
Krtap9-3	AC	ACAGGTGTCGC	11: 99,488,830 (GRCm39)		probably benign	Het
Las1l	AGG	AGGGGG	X: 94,984,427 (GRCm39)		probably benign	Het
Las1l	GAG	GAGCAG	X: 94,984,435 (GRCm39)		probably benign	Het
Las1l	AGG	AGGCGG	X: 94,984,433 (GRCm39)		probably benign	Het
Lrit3	TGC	TGCAGC	3: 129,582,455 (GRCm39)		probably benign	Het
Lrit3	AC	ACATTC	3: 129,597,562 (GRCm39)		probably null	Homo
Lrit3	GCT	GCTTCT	3: 129,582,459 (GRCm39)		probably benign	Het
Luzp1	A	AGGTGGCCTCTTCAGT	4: 136,270,507 (GRCm39)		probably benign	Het
Mamld1	AGC	AGCCGC	X: 70,162,441 (GRCm39)		probably benign	Het
Mamld1	GCA	GCAACA	X: 70,162,445 (GRCm39)		probably benign	Het
Mapk8ip3	G	A	17: 25,121,093 (GRCm39)		probably null	Homo
Mbd1	TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC	18: 74,406,644 (GRCm39)		probably benign	Het
Nat8f2	T	A	6: 85,844,668 (GRCm39)	L231F	possibly damaging	Homo
Nfxl1	CC	CCGGGGAC	5: 72,716,464 (GRCm39)		probably benign	Het
Noc2l	CTG	CTGTTG	4: 156,324,552 (GRCm39)		probably benign	Het
Noc2l	GGTAG	GG	4: 156,325,958 (GRCm39)		probably benign	Homo
Noc2l	GCT	GCTTCT	4: 156,324,551 (GRCm39)		probably benign	Het
Nxpe5	C	T	5: 138,228,196 (GRCm39)		probably benign	Het
Or10j2	GGGCTGCTTGTGGCAAT	G	1: 173,098,197 (GRCm39)		probably null	Het
Or51a43	G	C	7: 103,720,499 (GRCm39)		probably benign	Homo
Or51f2	CT	CTAATTGCCTT	7: 102,526,440 (GRCm39)		probably benign	Homo
Or8b41	A	G	9: 38,054,484 (GRCm39)	I13V	probably benign	Homo
Or8u3-ps	CAG	CAGAG	2: 85,953,104 (GRCm39)		probably null	Homo
Osmr	C	CTCA	15: 6,867,187 (GRCm39)		probably null	Homo
Patl2	GC	GCTAC	2: 121,956,625 (GRCm39)		probably null	Het
Patl2	C	CTGA	2: 121,956,626 (GRCm39)		probably benign	Het
Patl2	CTG	CTGTTG	2: 121,956,617 (GRCm39)		probably benign	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,006,678 (GRCm39)		probably null	Homo
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,006,817 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Homo
Pitrm1	TTTTA	T	13: 6,610,632 (GRCm39)		probably benign	Homo
Pkdrej	TG	TGGGAGCG	15: 85,703,881 (GRCm39)		probably benign	Homo
Pla2g4e	AGGG	A	2: 120,075,205 (GRCm39)		probably benign	Homo
Plekhs1	AC	ACCTCCCCCGAGCC	19: 56,468,295 (GRCm39)		probably benign	Het
Pnma8a	CCTCATGATGCACCTGCTTCAACATC	CCTCATGATGCACCTGCTTCAACATCTCATGATGCACCTGCTTCAACATC	7: 16,695,350 (GRCm39)		probably benign	Homo
Pnma8b	TGGA	T	7: 16,679,931 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Homo
Prr13	CTC	CTCATC	15: 102,370,608 (GRCm39)		probably benign	Het
Prss41	CACA	C	17: 24,063,071 (GRCm39)		probably benign	Het
Prtg	GTAAC	G	9: 72,764,363 (GRCm39)		probably benign	Het
Ptk2b	C	T	14: 66,411,298 (GRCm39)	R411Q	possibly damaging	Homo
Ptms	TCT	TCTGCT	6: 124,891,420 (GRCm39)		probably benign	Homo
Ptms	C	CTTG	6: 124,891,424 (GRCm39)		probably benign	Homo
Ptms	TTC	TTCGTC	6: 124,891,422 (GRCm39)		probably benign	Homo
Ptpn23	G	T	9: 110,216,701 (GRCm39)	P1052T	probably benign	Homo
Rab3il1	C	A	19: 10,011,115 (GRCm39)	A264E	probably damaging	Homo
Rbm6	GCTGT	G	9: 107,659,954 (GRCm39)		probably null	Homo
Rtbdn	TAG	TAGGGGCAG	8: 85,682,790 (GRCm39)		probably benign	Het
Rtbdn	GGC	GGCAGCTGC	8: 85,682,806 (GRCm39)		probably benign	Het
Rtbdn	CGGC	CGGCAGGGGC	8: 85,682,805 (GRCm39)		probably benign	Het
Rtbdn	AGCG	AGCGTCCGCG	8: 85,682,797 (GRCm39)		probably benign	Het
Sbp	CAAAG	CAAAGCTGCTGACAAAAAAG	17: 24,164,356 (GRCm39)		probably benign	Het
Sbp	G	GCTGACAACAAAGATC	17: 24,164,363 (GRCm39)		probably benign	Het
Setd1a	GTGGTAGTG	GTGGTAGTGTTGGTAGTG	7: 127,384,484 (GRCm39)		probably benign	Het
Sfswap	GCCCACTC	GCCCACTCATCCCACTC	5: 129,646,820 (GRCm39)		probably benign	Het
Six3	GGC	GGCAGC	17: 85,928,785 (GRCm39)		probably benign	Het
Six3	GCG	GCGCCG	17: 85,928,786 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,790 (GRCm39)		probably benign	Het
Six3	GGC	GGCAGC	17: 85,928,791 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,793 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Slc12a1	ACC	ACCTTTGGCCACAACTCC	2: 124,996,134 (GRCm39)		probably benign	Homo
Smarca2	CAGCAGCAGCAGCAGCAGCA	CAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,608,399 (GRCm39)		probably benign	Homo
Spaca1	TCGCTC	TCGCTCGCGCTC	4: 34,049,836 (GRCm39)		probably benign	Het
Spag1	TTC	TTCGTC	15: 36,197,879 (GRCm39)		probably benign	Het
Spag17	AGG	AGGCGG	3: 99,963,573 (GRCm39)		probably benign	Het
Spata31h1	TTCA	T	10: 82,121,303 (GRCm39)		probably benign	Homo
Srebf2	G	T	15: 82,069,536 (GRCm39)	A693S	probably damaging	Homo
Srpk2	T	C	5: 23,750,194 (GRCm39)		probably null	Homo
Sry	AACTGCT	A	Y: 2,663,195 (GRCm39)		probably benign	Het
Sry	GTG	GTGTTG	Y: 2,662,837 (GRCm39)		probably benign	Homo
Sry	TGG	TGGGGG	Y: 2,662,838 (GRCm39)		probably benign	Homo
Stard9	C	CTAAGGGACTAGTAGG	2: 120,526,566 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,635,079 (GRCm39)		probably benign	Het
Supt20	CAGCAG	CAGCAGAAGCAG	3: 54,635,082 (GRCm39)		probably benign	Het
Supt20	GCAGCA	GCAGCAACAGCA	3: 54,635,078 (GRCm39)		probably benign	Het
Tcof1	GGGTA	G	18: 60,961,722 (GRCm39)		probably benign	Homo
Tdpoz3	A	C	3: 93,733,981 (GRCm39)	N219H	probably benign	Het
Tesk1	C	CCCCG	4: 43,447,004 (GRCm39)		probably null	Homo
Tob1	GCA	GCAACA	11: 94,105,290 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Tob1	A	AGCC	11: 94,105,304 (GRCm39)		probably benign	Het
Trav15-2-dv6-2	AG	AGAGG	14: 53,887,213 (GRCm39)		probably benign	Homo
Trav15-2-dv6-2	G	GAAA	14: 53,887,214 (GRCm39)		probably benign	Homo
Trim63	GAGT	G	4: 134,055,036 (GRCm39)		probably benign	Het
Tsbp1	CAG	CAGAAG	17: 34,679,025 (GRCm39)		probably benign	Het
Tsbp1	GCA	GCATCA	17: 34,679,042 (GRCm39)		probably benign	Het
Tsen2	G	GAGA	6: 115,537,038 (GRCm39)		probably benign	Het
Ttf2	TC	TCCCC	3: 100,870,476 (GRCm39)		probably benign	Homo
Tusc1	ACCGCC	ACCGCCCCCGCC	4: 93,223,550 (GRCm39)		probably benign	Homo
Ubqlnl	TGAG	T	7: 103,799,042 (GRCm39)		probably benign	Homo
Ubtf	CCT	CCTACT	11: 102,197,774 (GRCm39)		probably null	Het
Ubtf	TCC	TCCACC	11: 102,197,776 (GRCm39)		probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Homo
Wasf3	G	T	5: 146,407,060 (GRCm39)	R460L	probably damaging	Het
Zc3h13	TGCGAGATG	TGCGAGATGAGCGAGATG	14: 75,561,039 (GRCm39)		probably benign	Homo
Zc3h13	ATGTGCGAG	ATGTGCGAGGTGTGCGAG	14: 75,561,036 (GRCm39)		probably benign	Homo
Zfhx3	GCAACA	GCAACAACAACAACA	8: 109,682,720 (GRCm39)		probably benign	Het
Zfhx3	GCA	GCAACAGCACCA	8: 109,682,735 (GRCm39)		probably benign	Het
Zfhx3	AGCA	AGCAACAGACGCA	8: 109,682,734 (GRCm39)		probably benign	Het
Zfp111	TCA	TCAACA	7: 23,899,230 (GRCm39)		probably benign	Homo
Zfp112	CATGA	CATGATGA	7: 23,824,832 (GRCm39)		probably benign	Homo
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Homo
Zfp282	CGG	CGGGGG	6: 47,881,724 (GRCm39)		probably benign	Het
Zfp282	CGG	CGGGGG	6: 47,881,733 (GRCm39)		probably benign	Het
Zfp335	TC	TCCCC	2: 164,749,404 (GRCm39)		probably benign	Het
Zfp335	TCC	TCCGCC	2: 164,749,395 (GRCm39)		probably benign	Het
Zfp335	CTC	CTCGTC	2: 164,749,394 (GRCm39)		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758 (GRCm39)		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGTCGCC	4: 55,009,760 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,899,750 (GRCm39)		probably benign	Het
Zfp598	AC	ACCACCGC	17: 24,899,765 (GRCm39)		probably benign	Het
Zfp598	ACCACC	ACCACCGCCACC	17: 24,899,756 (GRCm39)		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,487,264 (GRCm39)		probably benign	Het
Zfp831	TC	TCCGC	2: 174,487,276 (GRCm39)		probably benign	Het
Zfp831	CTC	CTCATC	2: 174,487,269 (GRCm39)		probably benign	Het
Zfp93	CAGGCATAG	CAG	7: 23,974,814 (GRCm39)		probably benign	Homo
Zscan10	TGACG	TG	17: 23,828,419 (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
FR4976:Phc1	UTSW	6	122,300,559 (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'- TAGGCGCTACAGGAGGTTTG -3'
(R):5'- CATTCACTGATTCAGCAACAGC -3'

Sequencing Primer
(F):5'- CTACAGGAGGTTTGGACTGAATG -3'
(R):5'- TGATTCAGCAACAGCAGCAG -3'

Posted On

2018-04-05