Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01354:Phc1'

75461

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 #

IGL01354

Quality Score

Status

Chromosome

Chromosomal Location

122294690-122317520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122311042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 98 (T98I)

Ref Sequence

ENSEMBL: ENSMUSP00000125568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079560] [ENSMUST00000081849] [ENSMUST00000112600] [ENSMUST00000159252] [ENSMUST00000159384] [ENSMUST00000159657] [ENSMUST00000160163] [ENSMUST00000160696] [ENSMUST00000160843] [ENSMUST00000161739] [ENSMUST00000161054] [ENSMUST00000161149] [ENSMUST00000161210]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079560
AA Change: T98I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669
AA Change: T98I

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 damaging
Transcript: ENSMUST00000081849
AA Change: T98I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080532
Gene: ENSMUSG00000040669
AA Change: T98I

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 damaging
Transcript: ENSMUST00000112600
AA Change: T98I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108219
Gene: ENSMUSG00000040669
AA Change: T98I

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: T61I

SMART Domains

Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669
AA Change: T61I

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 damaging
Transcript: ENSMUST00000159384
AA Change: T98I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124744
Gene: ENSMUSG00000040669
AA Change: T98I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159657

SMART Domains

Protein: ENSMUSP00000123957
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: 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 damaging
Transcript: ENSMUST00000160696
AA Change: T98I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669
AA Change: T98I

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 damaging
Transcript: ENSMUST00000160843
AA Change: T98I

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000125030
Gene: ENSMUSG00000040669
AA Change: T98I

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 damaging
Transcript: ENSMUST00000161739
AA Change: T98I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669
AA Change: T98I

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 damaging
Transcript: ENSMUST00000161054
AA Change: T98I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669
AA Change: T98I

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: ENSMUST00000160863

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161149

SMART Domains

Protein: ENSMUSP00000125717
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: ENSMUST00000161210

SMART Domains

Protein: ENSMUSP00000124795
Gene: ENSMUSG00000040669

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
low complexity region	34	46	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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,363,240 (GRCm39)	L41P	probably damaging	Het
Baz2b	T	C	2: 59,799,233 (GRCm39)	Q297R	probably benign	Het
Chl1	A	T	6: 103,642,814 (GRCm39)	Q184L	probably benign	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2d34	G	A	15: 82,501,823 (GRCm39)	T229M	probably benign	Het
Fgd5	C	T	6: 92,038,824 (GRCm39)	R995*	probably null	Het
Gaa	T	C	11: 119,161,394 (GRCm39)	S146P	probably benign	Het
Gm11437	T	A	11: 84,058,144 (GRCm39)		probably benign	Het
Inpp5a	T	C	7: 139,118,150 (GRCm39)	F235L	probably damaging	Het
Lpp	T	A	16: 24,580,816 (GRCm39)	Y177*	probably null	Het
Malt1	A	G	18: 65,608,262 (GRCm39)	Y654C	probably damaging	Het
Or2y10	T	C	11: 49,455,024 (GRCm39)	I92T	probably damaging	Het
Or4k52	A	C	2: 111,611,246 (GRCm39)	N194H	possibly damaging	Het
Or8b4	G	A	9: 37,830,840 (GRCm39)	V301I	possibly damaging	Het
Otog	A	G	7: 45,939,150 (GRCm39)	N2060S	probably damaging	Het
Pik3cb	A	G	9: 98,946,221 (GRCm39)	I535T	possibly damaging	Het
Plxna2	A	G	1: 194,444,743 (GRCm39)	I712V	probably benign	Het
Psmc2	A	G	5: 22,000,834 (GRCm39)	E103G	possibly damaging	Het
Ptprb	A	G	10: 116,179,796 (GRCm39)	I1405V	probably benign	Het
Ralgapa1	T	C	12: 55,824,101 (GRCm39)	N260D	possibly damaging	Het
Reln	G	A	5: 22,124,173 (GRCm39)	Q2778*	probably null	Het
Slco1a8	T	C	6: 141,936,134 (GRCm39)	N317S	probably benign	Het
Sptlc1	T	A	13: 53,487,987 (GRCm39)	Q452L	probably benign	Het
Traf4	C	A	11: 78,056,226 (GRCm39)	R14L	possibly damaging	Het
Ubap2	T	C	4: 41,207,005 (GRCm39)	E191G	probably damaging	Het
Vstm4	A	T	14: 32,641,202 (GRCm39)	T262S	probably benign	Het
Zrsr2-ps1	T	A	11: 22,924,190 (GRCm39)	H321Q	probably 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
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

2013-10-07