Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:Phc3'

408414

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 #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

30953520-31023564 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30991002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 405 (V405A)

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: V405A

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

SMART Domains

Protein: ENSMUSP00000037862
Gene: ENSMUSG00000037652
AA Change: V405A

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: V405A

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

SMART Domains

Protein: ENSMUSP00000065617
Gene: ENSMUSG00000037652
AA Change: V405A

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: V372A

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

SMART Domains

Protein: ENSMUSP00000096767
Gene: ENSMUSG00000037652
AA Change: V372A

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: V360A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103890
Gene: ENSMUSG00000037652
AA Change: V360A

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: V393A

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

SMART Domains

Protein: ENSMUSP00000114916
Gene: ENSMUSG00000037652
AA Change: V393A

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: V360A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136820
Gene: ENSMUSG00000037652
AA Change: V360A

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: V393A

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

SMART Domains

Protein: ENSMUSP00000130142
Gene: ENSMUSG00000037652
AA Change: V393A

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
F12	A	G	13: 55,569,332 (GRCm39)		probably benign	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	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
IGL02330:Phc3	APN	3	30,990,530 (GRCm39)	missense	probably damaging	1.00
IGL02516:Phc3	APN	3	31,002,942 (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

2016-08-02