Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02210:Phc3'

284681

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phc3

Ensembl Gene

ENSMUSG00000037652

Gene Name

polyhomeotic 3

Synonyms

HPH3, EDR3, E030046K01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02210

Quality Score

Status

Chromosome

Chromosomal Location

30899371-30969415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30936709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 420 (V420A)

Ref Sequence

ENSEMBL: ENSMUSP00000096767 (fasta)

Gene Model

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

AlphaFold

Q8CHP6

Predicted Effect

probably benign
Transcript: ENSMUST00000046624
AA Change: V453A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037862
Gene: ENSMUSG00000037652
AA Change: V453A

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 benign
Transcript: ENSMUST00000064718

SMART Domains

Protein: ENSMUSP00000065617
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	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: V420A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096767
Gene: ENSMUSG00000037652
AA Change: V420A

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 benign
Transcript: ENSMUST00000108255
AA Change: V408A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: V408A

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 benign
Transcript: ENSMUST00000129817
AA Change: V441A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: V441A

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 benign
Transcript: ENSMUST00000168645
AA Change: V441A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: V441A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177992
AA Change: V408A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: V408A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,687,371	F215S	probably damaging	Het
Acvr2a	A	T	2: 48,898,526	H422L	probably damaging	Het
Adcy6	T	C	15: 98,594,971	Y908C	possibly damaging	Het
Alyref	A	C	11: 120,597,673	S110A	possibly damaging	Het
Ankrd1	T	C	19: 36,118,314	D86G	probably damaging	Het
Anpep	T	A	7: 79,826,904	Y29F	probably benign	Het
Appl1	T	C	14: 26,925,952		probably benign	Het
Arrdc5	T	C	17: 56,300,026	D73G	probably damaging	Het
Atp12a	T	A	14: 56,371,744	Y142*	probably null	Het
Clec4a3	T	A	6: 122,954,108	I52N	probably damaging	Het
Cmya5	G	A	13: 93,092,734	P1949S	probably benign	Het
Crybb2	T	A	5: 113,058,387	Q194L	probably damaging	Het
Dmxl2	A	C	9: 54,404,049	L1796R	probably damaging	Het
Ecm1	A	G	3: 95,735,977	F337S	probably damaging	Het
F5	T	C	1: 164,190,141	S596P	probably benign	Het
Fat4	A	G	3: 38,891,853	T1632A	probably benign	Het
Gm5070	T	G	3: 95,410,625		noncoding transcript	Het
Hps5	T	C	7: 46,786,570	Y184C	probably benign	Het
Letmd1	T	C	15: 100,469,247		probably null	Het
Lipo5	A	T	19: 33,467,877	N97K	unknown	Het
Mis18bp1	A	T	12: 65,136,831	Y922*	probably null	Het
Mob3c	C	A	4: 115,833,755	H181N	probably damaging	Het
Muc4	A	T	16: 32,752,254	T711S	probably benign	Het
Nav3	T	C	10: 109,766,990	T1233A	probably benign	Het
Olfr1120	T	A	2: 87,358,003	D186E	probably damaging	Het
Olfr361	G	T	2: 37,085,619	T43N	possibly damaging	Het
Pcnt	T	C	10: 76,389,219	E1817G	possibly damaging	Het
Pdzd3	T	G	9: 44,248,317	T461P	probably benign	Het
Plekhn1	A	T	4: 156,223,649	C316S	probably damaging	Het
Ppp1cb	T	A	5: 32,483,474		probably benign	Het
Slc29a4	T	C	5: 142,718,779	Y359H	probably damaging	Het
Sspo	T	C	6: 48,500,492	I4982T	probably damaging	Het
Sstr4	T	A	2: 148,396,309	L280Q	probably damaging	Het
Stap1	G	A	5: 86,078,061		probably null	Het
Szt2	A	G	4: 118,389,823	V865A	possibly damaging	Het
Tmem246	A	G	4: 49,586,686	Y161H	probably benign	Het
Tnr	T	A	1: 159,852,101	V215D	probably benign	Het
Trpm1	T	C	7: 64,210,865	L288P	probably damaging	Het
Ttll5	T	A	12: 85,912,545		probably benign	Het
Usp8	T	C	2: 126,718,056		probably benign	Het
Uxs1	T	C	1: 43,750,286	Y403C	possibly damaging	Het
Wnk2	T	C	13: 49,090,869	E497G	probably damaging	Het
Xdh	T	C	17: 73,943,895	K21E	probably benign	Het

Other mutations in Phc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:Phc3	APN	3	30936475	missense	probably damaging	0.98
IGL00985:Phc3	APN	3	30914197	missense	probably benign	0.13
IGL01340:Phc3	APN	3	30929884	missense	possibly damaging	0.85
IGL01450:Phc3	APN	3	30914504	missense	probably damaging	1.00
IGL01546:Phc3	APN	3	30961739	missense	probably damaging	1.00
IGL01918:Phc3	APN	3	30914416	critical splice donor site	probably null
IGL02178:Phc3	APN	3	30929863	missense	possibly damaging	0.47
IGL02330:Phc3	APN	3	30936381	missense	probably damaging	1.00
IGL02516:Phc3	APN	3	30948793	missense	probably damaging	1.00
IGL03030:Phc3	APN	3	30936853	missense	probably damaging	1.00
See_saw	UTSW	3	30937049	nonsense	probably null
R1228:Phc3	UTSW	3	30922255	missense	possibly damaging	0.71
R1239:Phc3	UTSW	3	30914130	missense	probably damaging	1.00
R1319:Phc3	UTSW	3	30929869	missense	probably damaging	0.97
R1521:Phc3	UTSW	3	30936575	missense	possibly damaging	0.89
R1772:Phc3	UTSW	3	30961820	missense	probably damaging	1.00
R1793:Phc3	UTSW	3	30948716	missense	probably damaging	1.00
R1879:Phc3	UTSW	3	30914458	missense	probably damaging	1.00
R2171:Phc3	UTSW	3	30950929	missense	probably damaging	1.00
R2419:Phc3	UTSW	3	30950878	missense	probably damaging	0.99
R2863:Phc3	UTSW	3	30914128	missense	probably damaging	0.99
R2864:Phc3	UTSW	3	30914128	missense	probably damaging	0.99
R3700:Phc3	UTSW	3	30914128	missense	probably damaging	1.00
R3980:Phc3	UTSW	3	30936931	missense	probably damaging	0.99
R4222:Phc3	UTSW	3	30936819	missense	probably damaging	1.00
R4223:Phc3	UTSW	3	30936819	missense	probably damaging	1.00
R4584:Phc3	UTSW	3	30965882	missense	possibly damaging	0.46
R4928:Phc3	UTSW	3	30950919	missense	probably damaging	1.00
R5100:Phc3	UTSW	3	30922199	missense	possibly damaging	0.71
R5340:Phc3	UTSW	3	30907467	missense	probably damaging	1.00
R5656:Phc3	UTSW	3	30965866	missense	probably damaging	0.98
R5840:Phc3	UTSW	3	30936583	missense	possibly damaging	0.95
R6022:Phc3	UTSW	3	30930025	missense	probably damaging	1.00
R6061:Phc3	UTSW	3	30914529	missense	probably damaging	1.00
R6177:Phc3	UTSW	3	30942565	missense	probably damaging	1.00
R6188:Phc3	UTSW	3	30937049	nonsense	probably null
R6866:Phc3	UTSW	3	30914531	nonsense	probably null
R6870:Phc3	UTSW	3	30936761	missense	probably damaging	1.00
R7155:Phc3	UTSW	3	30914197	missense	probably benign	0.01
R7603:Phc3	UTSW	3	30907452	missense	probably damaging	0.97
R7874:Phc3	UTSW	3	30936714	missense	probably benign	0.00
R8422:Phc3	UTSW	3	30929890	nonsense	probably null
R8877:Phc3	UTSW	3	30914122	missense	probably damaging	1.00
R8972:Phc3	UTSW	3	30961777	missense	possibly damaging	0.95
R9003:Phc3	UTSW	3	30965858	missense	possibly damaging	0.86
R9042:Phc3	UTSW	3	30929767	missense	unknown
R9155:Phc3	UTSW	3	30914542	missense	probably benign	0.01
R9168:Phc3	UTSW	3	30907395	missense	probably benign
X0025:Phc3	UTSW	3	30965886	missense	probably damaging	0.96
Z1176:Phc3	UTSW	3	30936597	missense	probably benign

Posted On

2015-04-16