Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Phc1'

165105

Institutional Source

Beutler Lab

Gene Symbol

Phc1

Ensembl Gene

ENSMUSG00000040669

Gene Name

polyhomeotic 1

Synonyms

rae28, Mph1, Rae-28, Edr1

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122294690-122317520 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 122300416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

unknown
Transcript: ENSMUST00000079560
AA Change: T488A

SMART Domains

Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669
AA Change: T488A

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

unknown
Transcript: ENSMUST00000081849
AA Change: T436A

SMART Domains

Protein: ENSMUSP00000080532
Gene: ENSMUSG00000040669
AA Change: T436A

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

unknown
Transcript: ENSMUST00000112600
AA Change: T436A

SMART Domains

Protein: ENSMUSP00000108219
Gene: ENSMUSG00000040669
AA Change: T436A

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

unknown
Transcript: ENSMUST00000159252
AA Change: T443A

SMART Domains

Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669
AA Change: T443A

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

unknown
Transcript: ENSMUST00000160696
AA Change: T488A

SMART Domains

Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669
AA Change: T488A

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

unknown
Transcript: ENSMUST00000161054
AA Change: T436A

SMART Domains

Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669
AA Change: T436A

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

unknown
Transcript: ENSMUST00000161739
AA Change: T488A

SMART Domains

Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669
AA Change: T488A

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

Meta Mutation Damage Score

0.0703

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,679,795 (GRCm39)	V1848E	probably damaging	Het
Alpk3	A	G	7: 80,727,343 (GRCm39)	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,389,756 (GRCm39)	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591 (GRCm39)	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,404,130 (GRCm39)		probably benign	Het
Ctsj	G	A	13: 61,150,312 (GRCm39)	P230L	probably benign	Het
Dync1i2	C	T	2: 71,058,164 (GRCm39)		probably benign	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frg1	A	G	8: 41,864,254 (GRCm39)		probably benign	Het
Fzd2	A	T	11: 102,496,206 (GRCm39)	S217C	possibly damaging	Het
Gaa	G	T	11: 119,165,730 (GRCm39)	R81L	probably damaging	Het
Gfral	A	G	9: 76,074,341 (GRCm39)	V368A	probably benign	Het
Gm10774	T	C	2: 126,551,392 (GRCm39)	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830 (GRCm39)	N545K	probably damaging	Het
Herc2	T	C	7: 55,796,444 (GRCm39)	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231 (GRCm39)	I53T	probably benign	Het
Iqub	G	A	6: 24,505,627 (GRCm39)	L94F	possibly damaging	Het
Kpna1	C	T	16: 35,853,749 (GRCm39)	R460*	probably null	Het
Masp1	T	C	16: 23,310,865 (GRCm39)	E189G	probably damaging	Het
Mogat1	A	G	1: 78,500,250 (GRCm39)	I105V	probably benign	Het
Mpi	A	G	9: 57,452,472 (GRCm39)		probably benign	Het
Msh2	C	A	17: 87,987,488 (GRCm39)	D209E	probably benign	Het
Nsf	G	A	11: 103,719,364 (GRCm39)	T646I	probably damaging	Het
Or10g9b	A	T	9: 39,917,390 (GRCm39)	V285D	possibly damaging	Het
Or4c10b	C	T	2: 89,711,550 (GRCm39)	P127S	probably damaging	Het
Or5b24	T	A	19: 12,912,329 (GRCm39)	S76T	possibly damaging	Het
Or6b2	G	A	1: 92,407,612 (GRCm39)	H244Y	probably damaging	Het
Otogl	T	A	10: 107,722,374 (GRCm39)	I327F	probably damaging	Het
Pappa2	T	C	1: 158,682,552 (GRCm39)	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512 (GRCm39)		probably benign	Het
Pfkfb4	A	G	9: 108,836,794 (GRCm39)	E163G	probably benign	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Ppfia3	A	C	7: 45,001,639 (GRCm39)	D424E	probably benign	Het
Prss16	A	G	13: 22,191,138 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,178,711 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,380,239 (GRCm39)	S919N	probably benign	Het
Sec31a	T	C	5: 100,510,032 (GRCm39)	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,274,445 (GRCm39)	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,589,646 (GRCm39)	V539A	probably benign	Het
Sf3b5	A	G	10: 12,884,575 (GRCm39)	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tor1aip2	T	C	1: 155,940,483 (GRCm39)	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,813,733 (GRCm39)	E380G	probably damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Zfp110	A	G	7: 12,580,721 (GRCm39)		probably null	Het
Zfp335	G	A	2: 164,738,043 (GRCm39)	A856V	probably benign	Het
Zfp652	G	A	11: 95,640,608 (GRCm39)	E178K	possibly damaging	Het

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
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
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'- TGCTAATCCCAAAGCCTGTGCTTG -3'
(R):5'- ATCCAGCAGCAGATTGCCATCC -3'

Sequencing Primer
(F):5'- CTTGGGCTGAACCTGGC -3'
(R):5'- gcagcagcagcagcaac -3'

Posted On

2014-03-28