Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02861:Phc1'

362161

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 #

IGL02861

Quality Score

Status

Chromosome

Chromosomal Location

122294690-122317520 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 122300748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

unknown
Transcript: ENSMUST00000079560
AA Change: H377L

SMART Domains

Protein: ENSMUSP00000078514
Gene: ENSMUSG00000040669
AA Change: H377L

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: H325L

SMART Domains

Protein: ENSMUSP00000080532
Gene: ENSMUSG00000040669
AA Change: H325L

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: H325L

SMART Domains

Protein: ENSMUSP00000108219
Gene: ENSMUSG00000040669
AA Change: H325L

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: H332L

SMART Domains

Protein: ENSMUSP00000124678
Gene: ENSMUSG00000040669
AA Change: H332L

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: H377L

SMART Domains

Protein: ENSMUSP00000125580
Gene: ENSMUSG00000040669
AA Change: H377L

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: ENSMUST00000161739
AA Change: H377L

SMART Domains

Protein: ENSMUSP00000125568
Gene: ENSMUSG00000040669
AA Change: H377L

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: ENSMUST00000161054
AA Change: H325L

SMART Domains

Protein: ENSMUSP00000123911
Gene: ENSMUSG00000040669
AA Change: H325L

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 61,001,146 (GRCm39)		probably benign	Het
6430548M08Rik	G	A	8: 120,876,863 (GRCm39)	R157H	probably damaging	Het
Amer3	A	G	1: 34,627,206 (GRCm39)	K482E	probably damaging	Het
Ankrd11	A	T	8: 123,622,566 (GRCm39)	S429T	probably damaging	Het
Ano3	T	A	2: 110,569,157 (GRCm39)	N125I	probably damaging	Het
BC106179	T	A	16: 23,042,746 (GRCm39)		probably benign	Het
Bclaf3	T	C	X: 158,338,524 (GRCm39)	I457T	possibly damaging	Het
Cbr3	T	G	16: 93,482,007 (GRCm39)	V121G	probably damaging	Het
Cd44	A	G	2: 102,662,826 (GRCm39)		probably null	Het
Cd72	G	A	4: 43,448,332 (GRCm39)	A316V	probably benign	Het
Cdc27	A	T	11: 104,413,657 (GRCm39)		probably benign	Het
Cdon	A	T	9: 35,398,253 (GRCm39)	Q990L	probably damaging	Het
Clk2	T	C	3: 89,080,706 (GRCm39)	W231R	probably damaging	Het
Cpsf2	G	A	12: 101,965,825 (GRCm39)	V597I	probably benign	Het
D630003M21Rik	A	G	2: 158,042,918 (GRCm39)	V874A	probably benign	Het
Daam2	A	G	17: 49,776,455 (GRCm39)	F811L	probably damaging	Het
Ddx54	T	C	5: 120,756,195 (GRCm39)		probably benign	Het
Dysf	T	A	6: 84,016,519 (GRCm39)	L59Q	probably damaging	Het
Eps8	A	G	6: 137,476,597 (GRCm39)	Y601H	probably damaging	Het
Faf2	T	C	13: 54,796,235 (GRCm39)	Y131H	probably damaging	Het
Hectd4	T	A	5: 121,445,067 (GRCm39)	D101E	possibly damaging	Het
Hk2	T	C	6: 82,737,139 (GRCm39)	T30A	possibly damaging	Het
Il27	A	T	7: 126,191,821 (GRCm39)	L77Q	probably damaging	Het
Klhdc1	T	A	12: 69,298,225 (GRCm39)	V83D	possibly damaging	Het
Manba	T	G	3: 135,276,024 (GRCm39)	S822A	probably benign	Het
Mterf2	A	C	10: 84,956,195 (GRCm39)	V143G	probably damaging	Het
Ncapd3	A	G	9: 26,981,195 (GRCm39)	D895G	probably benign	Het
Or4c115	T	A	2: 88,927,801 (GRCm39)	I157L	probably benign	Het
Or6n1	T	A	1: 173,916,602 (GRCm39)		probably benign	Het
Panx1	T	C	9: 14,919,101 (GRCm39)	K253E	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Ptchd4	A	G	17: 42,688,208 (GRCm39)	E250G	probably damaging	Het
Rp1	G	T	1: 4,416,375 (GRCm39)	S1579*	probably null	Het
Rrp1	A	G	10: 78,245,056 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,483,186 (GRCm39)	L4187P	possibly damaging	Het
Serpinc1	A	T	1: 160,827,561 (GRCm39)	I387F	probably damaging	Het
Slc2a7	G	A	4: 150,252,836 (GRCm39)	C492Y	probably benign	Het
Slf1	A	G	13: 77,274,478 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,039,164 (GRCm39)	L1169Q	probably damaging	Het
Stap1	T	A	5: 86,219,824 (GRCm39)		probably benign	Het
Taf6	A	G	5: 138,182,147 (GRCm39)	L66P	probably damaging	Het
Ttn	T	C	2: 76,632,841 (GRCm39)	E14071G	probably damaging	Het
Unk	A	G	11: 115,947,125 (GRCm39)	H586R	possibly damaging	Het
Zfpm2	A	C	15: 40,966,662 (GRCm39)	K917T	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
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
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

2015-12-18