Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02330:Phc3'

288623

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phc3

Ensembl Gene

ENSMUSG00000037652

Gene Name

polyhomeotic 3

Synonyms

EDR3, E030046K01Rik, HPH3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02330

Quality Score

Status

Chromosome

Chromosomal Location

30953520-31023564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30990530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 562 (E562D)

Ref Sequence

ENSEMBL: ENSMUSP00000037862 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046624] [ENSMUST00000064718] [ENSMUST00000099163] [ENSMUST00000108255] [ENSMUST00000129817] [ENSMUST00000152357] [ENSMUST00000177992] [ENSMUST00000168645]

AlphaFold

Q8CHP6

Predicted Effect

probably damaging
Transcript: ENSMUST00000046624
AA Change: E562D

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

SMART Domains

Protein: ENSMUSP00000037862
Gene: ENSMUSG00000037652
AA Change: E562D

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	206	224	N/A	INTRINSIC
low complexity region	333	359	N/A	INTRINSIC
low complexity region	393	419	N/A	INTRINSIC
low complexity region	512	538	N/A	INTRINSIC
low complexity region	564	578	N/A	INTRINSIC
low complexity region	583	594	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000064718
AA Change: E520D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: E520D

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	206	224	N/A	INTRINSIC
low complexity region	333	359	N/A	INTRINSIC
low complexity region	393	419	N/A	INTRINSIC
low complexity region	470	496	N/A	INTRINSIC
low complexity region	522	536	N/A	INTRINSIC
low complexity region	541	571	N/A	INTRINSIC
low complexity region	610	618	N/A	INTRINSIC
low complexity region	628	656	N/A	INTRINSIC
PDB:2L8E\|A	745	781	1e-8	PDB
low complexity region	849	868	N/A	INTRINSIC
SAM	884	951	4.04e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000099163
AA Change: E529D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000096767
Gene: ENSMUSG00000037652
AA Change: E529D

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	300	326	N/A	INTRINSIC
low complexity region	360	386	N/A	INTRINSIC
low complexity region	479	505	N/A	INTRINSIC
low complexity region	531	545	N/A	INTRINSIC
low complexity region	550	580	N/A	INTRINSIC
low complexity region	619	627	N/A	INTRINSIC
low complexity region	637	665	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108255
AA Change: E517D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: E517D

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	288	314	N/A	INTRINSIC
low complexity region	348	374	N/A	INTRINSIC
low complexity region	467	493	N/A	INTRINSIC
low complexity region	519	533	N/A	INTRINSIC
low complexity region	538	568	N/A	INTRINSIC
low complexity region	607	615	N/A	INTRINSIC
low complexity region	625	653	N/A	INTRINSIC
PDB:2L8E\|A	742	778	8e-9	PDB
low complexity region	846	865	N/A	INTRINSIC
SAM	881	948	4.04e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124472

Predicted Effect

probably damaging
Transcript: ENSMUST00000129817
AA Change: E550D

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

SMART Domains

Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: E550D

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	194	212	N/A	INTRINSIC
low complexity region	321	347	N/A	INTRINSIC
low complexity region	381	407	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
low complexity region	571	601	N/A	INTRINSIC
low complexity region	640	648	N/A	INTRINSIC
low complexity region	658	686	N/A	INTRINSIC
PDB:2L8E\|A	775	811	7e-9	PDB
low complexity region	879	898	N/A	INTRINSIC
SAM	914	980	1.7e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152357

SMART Domains

Protein: ENSMUSP00000117614
Gene: ENSMUSG00000037652

Domain	Start	End	E-Value	Type
low complexity region	18	40	N/A	INTRINSIC
low complexity region	72	89	N/A	INTRINSIC
low complexity region	92	142	N/A	INTRINSIC
low complexity region	152	166	N/A	INTRINSIC
low complexity region	201	222	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000177992
AA Change: E517D

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: E517D

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	288	314	N/A	INTRINSIC
low complexity region	348	374	N/A	INTRINSIC
low complexity region	467	493	N/A	INTRINSIC
low complexity region	519	533	N/A	INTRINSIC
low complexity region	538	568	N/A	INTRINSIC
low complexity region	607	615	N/A	INTRINSIC
low complexity region	625	653	N/A	INTRINSIC
PDB:2L8E\|A	742	778	8e-9	PDB
low complexity region	846	865	N/A	INTRINSIC
SAM	881	948	4.04e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168645
AA Change: E550D

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

SMART Domains

Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: E550D

Domain	Start	End	E-Value	Type
low complexity region	6	28	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	80	130	N/A	INTRINSIC
low complexity region	140	154	N/A	INTRINSIC
low complexity region	194	212	N/A	INTRINSIC
low complexity region	321	347	N/A	INTRINSIC
low complexity region	381	407	N/A	INTRINSIC
low complexity region	500	526	N/A	INTRINSIC
low complexity region	552	566	N/A	INTRINSIC
low complexity region	571	601	N/A	INTRINSIC
low complexity region	640	648	N/A	INTRINSIC
low complexity region	658	686	N/A	INTRINSIC
PDB:2L8E\|A	775	811	7e-9	PDB
low complexity region	879	898	N/A	INTRINSIC
SAM	914	980	1.6e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	A	T	8: 56,325,398 (GRCm39)	I352K	probably benign	Het
Atp8a1	T	C	5: 67,970,520 (GRCm39)	N73S	probably damaging	Het
Cilp	T	C	9: 65,181,804 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,169,328 (GRCm39)	G500D	possibly damaging	Het
Cyp4a14	A	C	4: 115,352,224 (GRCm39)		probably benign	Het
Dagla	T	G	19: 10,225,386 (GRCm39)	D926A	probably damaging	Het
Ddr2	T	A	1: 169,816,093 (GRCm39)	Y538F	probably damaging	Het
Eng	T	A	2: 32,559,581 (GRCm39)		probably null	Het
Fbxo24	G	T	5: 137,619,579 (GRCm39)	L99M	probably damaging	Het
Fmn2	A	G	1: 174,437,511 (GRCm39)	S1161G	probably benign	Het
Foxp1	T	C	6: 98,922,373 (GRCm39)	N453D	probably damaging	Het
Fut8	A	G	12: 77,497,017 (GRCm39)	D409G	probably damaging	Het
Hmces	A	G	6: 87,891,517 (GRCm39)	H8R	probably damaging	Het
Ing3	T	C	6: 21,952,120 (GRCm39)	C44R	probably benign	Het
Itga1	T	A	13: 115,148,740 (GRCm39)	I294F	probably damaging	Het
Mov10l1	T	A	15: 88,910,693 (GRCm39)	S976T	probably damaging	Het
Myo15a	A	G	11: 60,367,987 (GRCm39)	Y249C	possibly damaging	Het
Nop56	T	C	2: 130,118,686 (GRCm39)	S273P	probably damaging	Het
Or10a48	A	T	7: 108,425,206 (GRCm39)		probably benign	Het
Or1j21	C	T	2: 36,683,907 (GRCm39)	H220Y	probably benign	Het
Otog	C	T	7: 45,937,493 (GRCm39)	S1734F	possibly damaging	Het
Ralb	A	T	1: 119,399,450 (GRCm39)	C203S	probably damaging	Het
Rita1	C	T	5: 120,747,858 (GRCm39)	A147T	probably damaging	Het
Sf3b4	A	T	3: 96,080,376 (GRCm39)	T42S	possibly damaging	Het
Sgsm2	T	C	11: 74,749,493 (GRCm39)	T584A	probably benign	Het
Slco5a1	T	C	1: 13,009,284 (GRCm39)	K397R	probably damaging	Het
Trim30c	A	G	7: 104,032,165 (GRCm39)	Y299H	possibly damaging	Het
Trip6	T	C	5: 137,311,620 (GRCm39)	D119G	probably benign	Het
Uap1	A	T	1: 169,977,896 (GRCm39)	I385N	possibly damaging	Het
Vmn1r123	T	A	7: 20,896,969 (GRCm39)	I287N	probably damaging	Het
Vwce	T	C	19: 10,624,165 (GRCm39)	L352P	possibly damaging	Het
Xrn1	T	A	9: 95,855,401 (GRCm39)	Y260*	probably null	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het

Other mutations in Phc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Phc3	APN	3	30,990,624 (GRCm39)	missense	probably damaging	0.98
IGL00985:Phc3	APN	3	30,968,346 (GRCm39)	missense	probably benign	0.13
IGL01340:Phc3	APN	3	30,984,033 (GRCm39)	missense	possibly damaging	0.85
IGL01450:Phc3	APN	3	30,968,653 (GRCm39)	missense	probably damaging	1.00
IGL01546:Phc3	APN	3	31,015,888 (GRCm39)	missense	probably damaging	1.00
IGL01918:Phc3	APN	3	30,968,565 (GRCm39)	critical splice donor site	probably null
IGL02178:Phc3	APN	3	30,984,012 (GRCm39)	missense	possibly damaging	0.47
IGL02210:Phc3	APN	3	30,990,858 (GRCm39)	missense	probably damaging	0.99
IGL02516:Phc3	APN	3	31,002,942 (GRCm39)	missense	probably damaging	1.00
IGL03030:Phc3	APN	3	30,991,002 (GRCm39)	missense	probably damaging	1.00
See_saw	UTSW	3	30,991,198 (GRCm39)	nonsense	probably null
R1228:Phc3	UTSW	3	30,976,404 (GRCm39)	missense	possibly damaging	0.71
R1239:Phc3	UTSW	3	30,968,279 (GRCm39)	missense	probably damaging	1.00
R1319:Phc3	UTSW	3	30,984,018 (GRCm39)	missense	probably damaging	0.97
R1521:Phc3	UTSW	3	30,990,724 (GRCm39)	missense	possibly damaging	0.89
R1772:Phc3	UTSW	3	31,015,969 (GRCm39)	missense	probably damaging	1.00
R1793:Phc3	UTSW	3	31,002,865 (GRCm39)	missense	probably damaging	1.00
R1879:Phc3	UTSW	3	30,968,607 (GRCm39)	missense	probably damaging	1.00
R2171:Phc3	UTSW	3	31,005,078 (GRCm39)	missense	probably damaging	1.00
R2419:Phc3	UTSW	3	31,005,027 (GRCm39)	missense	probably damaging	0.99
R2863:Phc3	UTSW	3	30,968,277 (GRCm39)	missense	probably damaging	0.99
R2864:Phc3	UTSW	3	30,968,277 (GRCm39)	missense	probably damaging	0.99
R3700:Phc3	UTSW	3	30,968,277 (GRCm39)	missense	probably damaging	1.00
R3980:Phc3	UTSW	3	30,991,080 (GRCm39)	missense	probably damaging	0.99
R4222:Phc3	UTSW	3	30,990,968 (GRCm39)	missense	probably damaging	1.00
R4223:Phc3	UTSW	3	30,990,968 (GRCm39)	missense	probably damaging	1.00
R4584:Phc3	UTSW	3	31,020,031 (GRCm39)	missense	possibly damaging	0.46
R4928:Phc3	UTSW	3	31,005,068 (GRCm39)	missense	probably damaging	1.00
R5100:Phc3	UTSW	3	30,976,348 (GRCm39)	missense	possibly damaging	0.71
R5340:Phc3	UTSW	3	30,961,616 (GRCm39)	missense	probably damaging	1.00
R5656:Phc3	UTSW	3	31,020,015 (GRCm39)	missense	probably damaging	0.98
R5840:Phc3	UTSW	3	30,990,732 (GRCm39)	missense	possibly damaging	0.95
R6022:Phc3	UTSW	3	30,984,174 (GRCm39)	missense	probably damaging	1.00
R6061:Phc3	UTSW	3	30,968,678 (GRCm39)	missense	probably damaging	1.00
R6177:Phc3	UTSW	3	30,996,714 (GRCm39)	missense	probably damaging	1.00
R6188:Phc3	UTSW	3	30,991,198 (GRCm39)	nonsense	probably null
R6866:Phc3	UTSW	3	30,968,680 (GRCm39)	nonsense	probably null
R6870:Phc3	UTSW	3	30,990,910 (GRCm39)	missense	probably damaging	1.00
R7155:Phc3	UTSW	3	30,968,346 (GRCm39)	missense	probably benign	0.01
R7603:Phc3	UTSW	3	30,961,601 (GRCm39)	missense	probably damaging	0.97
R7874:Phc3	UTSW	3	30,990,863 (GRCm39)	missense	probably benign	0.00
R8422:Phc3	UTSW	3	30,984,039 (GRCm39)	nonsense	probably null
R8877:Phc3	UTSW	3	30,968,271 (GRCm39)	missense	probably damaging	1.00
R8972:Phc3	UTSW	3	31,015,926 (GRCm39)	missense	possibly damaging	0.95
R9003:Phc3	UTSW	3	31,020,007 (GRCm39)	missense	possibly damaging	0.86
R9042:Phc3	UTSW	3	30,983,916 (GRCm39)	missense	unknown
R9155:Phc3	UTSW	3	30,968,691 (GRCm39)	missense	probably benign	0.01
R9168:Phc3	UTSW	3	30,961,544 (GRCm39)	missense	probably benign
X0025:Phc3	UTSW	3	31,020,035 (GRCm39)	missense	probably damaging	0.96
Z1176:Phc3	UTSW	3	30,990,746 (GRCm39)	missense	probably benign

Posted On

2015-04-16