Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:Phc1'

5378

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

122294690-122317520 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 122299958 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

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: 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: ENSMUST00000161290

SMART Domains

Protein: ENSMUSP00000125110
Gene: ENSMUSG00000040669

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

Coding Region Coverage

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,849,525 (GRCm39)	H632Y	probably damaging	Het
Adgre5	T	A	8: 84,455,030 (GRCm39)	M221L	probably benign	Het
Apba2	A	T	7: 64,386,689 (GRCm39)	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,371,559 (GRCm39)	N632K	probably damaging	Het
Bcas3	A	T	11: 85,256,417 (GRCm39)	I60L	probably damaging	Het
Brd9	T	C	13: 74,086,666 (GRCm39)	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,751,295 (GRCm39)	D925V	possibly damaging	Het
Ccna1	A	G	3: 54,958,076 (GRCm39)	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,102,208 (GRCm39)	T410A	probably benign	Het
Cimap3	A	G	3: 105,921,824 (GRCm39)	V33A	probably benign	Het
Ddx60	G	T	8: 62,411,680 (GRCm39)	D511Y	probably damaging	Het
Drc7	C	A	8: 95,782,629 (GRCm39)		probably benign	Het
Dysf	A	G	6: 84,118,933 (GRCm39)	E1290G	probably benign	Het
Fam168b	T	C	1: 34,875,883 (GRCm39)	M1V	probably null	Het
Farsa	A	G	8: 85,590,886 (GRCm39)	K208R	probably damaging	Het
Fnip2	A	G	3: 79,425,368 (GRCm39)		probably benign	Het
Gm17535	A	T	9: 3,035,111 (GRCm39)	H170L	probably benign	Het
Gm4553	T	C	7: 141,718,964 (GRCm39)	S155G	unknown	Het
Gm5852	T	C	3: 93,634,501 (GRCm39)		noncoding transcript	Het
Gnb2	T	C	5: 137,528,968 (GRCm39)		probably benign	Het
Gpr158	A	G	2: 21,373,494 (GRCm39)	N143S	probably damaging	Het
Hcn1	C	A	13: 117,739,513 (GRCm39)	Q92K	unknown	Het
Helb	T	C	10: 119,934,150 (GRCm39)	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,512,798 (GRCm39)	A118D	probably damaging	Het
Klhl14	G	A	18: 21,784,921 (GRCm39)	P169S	probably benign	Het
Kndc1	T	C	7: 139,481,904 (GRCm39)		probably benign	Het
Lmod2	A	G	6: 24,598,051 (GRCm39)	E57G	probably damaging	Het
Lrch4	T	C	5: 137,636,009 (GRCm39)	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,433,053 (GRCm39)	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,364,630 (GRCm39)		probably benign	Het
Mamstr	G	A	7: 45,293,709 (GRCm39)	V262I	probably benign	Het
Mob1b	A	T	5: 88,904,014 (GRCm39)	T217S	probably benign	Het
Mocs3	G	A	2: 168,073,411 (GRCm39)	R286H	possibly damaging	Het
Mpo	A	T	11: 87,693,443 (GRCm39)	Q27L	probably benign	Het
Ncdn	A	T	4: 126,640,981 (GRCm39)	D506E	probably benign	Het
Noxa1	A	G	2: 24,984,914 (GRCm39)	I8T	probably benign	Het
Oma1	G	T	4: 103,176,565 (GRCm39)	A110S	probably benign	Het
Or10a48	C	T	7: 108,424,280 (GRCm39)	V309I	probably benign	Het
Or13a18	T	A	7: 140,190,666 (GRCm39)	S196T	probably damaging	Het
Or8b4	A	G	9: 37,830,346 (GRCm39)	Y131C	probably damaging	Het
Pde4a	A	C	9: 21,122,357 (GRCm39)	K694T	probably benign	Het
Pias1	A	G	9: 62,830,578 (GRCm39)	V187A	probably damaging	Het
Pigf	C	A	17: 87,327,876 (GRCm39)	L130F	probably null	Het
Pkd1	G	T	17: 24,799,069 (GRCm39)	V2763L	probably damaging	Het
Potefam1	G	T	2: 111,051,107 (GRCm39)	L230I	probably damaging	Het
Ppp1r8	T	C	4: 132,561,992 (GRCm39)	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,568,324 (GRCm39)	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,698,924 (GRCm39)	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,412,790 (GRCm39)	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,070,185 (GRCm39)	I148F	probably damaging	Het
Stard3	T	C	11: 98,268,285 (GRCm39)	Y239H	probably damaging	Het
Stau1	T	C	2: 166,792,729 (GRCm39)	Y412C	probably benign	Het
Sucnr1	A	G	3: 59,994,053 (GRCm39)	I194V	probably benign	Het
Tanc1	A	G	2: 59,621,185 (GRCm39)	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,101,963 (GRCm39)	T79A	probably benign	Het
Trav9-2	A	T	14: 53,828,840 (GRCm39)	Y70F	probably benign	Het
Tspear	A	G	10: 77,709,070 (GRCm39)	E432G	probably benign	Het
Ube2o	T	C	11: 116,435,580 (GRCm39)	R403G	probably benign	Het
Unc80	C	A	1: 66,645,618 (GRCm39)	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,258,336 (GRCm39)	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,489,652 (GRCm39)	M473L	probably benign	Het
Xpot	T	A	10: 121,441,549 (GRCm39)	M559L	probably benign	Het

Other mutations in Phc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20