Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02276:Gm10337'

287325

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10337

Ensembl Gene

ENSMUSG00000071586

Gene Name

predicted gene 10337

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL02276

Quality Score

Status

Chromosome

Chromosomal Location

102412157-102412321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102412169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 324 (V324A)

Ref Sequence

ENSEMBL: ENSMUSP00000127629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023812] [ENSMUST00000077037] [ENSMUST00000078404] [ENSMUST00000096145] [ENSMUST00000108838] [ENSMUST00000165174] [ENSMUST00000169377] [ENSMUST00000171565] [ENSMUST00000229618] [ENSMUST00000169162] [ENSMUST00000229854] [ENSMUST00000169367]

AlphaFold

F7DEP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023812
AA Change: V324A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023812
Gene: ENSMUSG00000023050
AA Change: V324A

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077037

SMART Domains

Protein: ENSMUSP00000076294
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	283	353	5.19e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078404

SMART Domains

Protein: ENSMUSP00000077509
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	270	340	5.19e-15	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096145
AA Change: T5A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093859
Gene: ENSMUSG00000071586
AA Change: T5A

Domain	Start	End	E-Value	Type
low complexity region	29	37	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108838

SMART Domains

Protein: ENSMUSP00000104466
Gene: ENSMUSG00000056851

Domain	Start	End	E-Value	Type
KH	12	80	5.96e-15	SMART
KH	96	167	2.48e-12	SMART
KH	252	322	5.19e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164343

Predicted Effect

probably benign
Transcript: ENSMUST00000165174

Predicted Effect

probably damaging
Transcript: ENSMUST00000169377
AA Change: V324A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000133209
Gene: ENSMUSG00000023050
AA Change: V324A

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	159	397	1.2e-58	PFAM
Pfam:Pkinase_Tyr	160	397	3.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000171565
AA Change: V324A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127629
Gene: ENSMUSG00000023050
AA Change: V324A

Domain	Start	End	E-Value	Type
low complexity region	54	75	N/A	INTRINSIC
Pfam:Pkinase	158	397	3.3e-59	PFAM
Pfam:Pkinase_Tyr	159	397	2.7e-62	PFAM
coiled coil region	447	501	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	599	617	N/A	INTRINSIC
low complexity region	640	663	N/A	INTRINSIC
low complexity region	664	678	N/A	INTRINSIC
low complexity region	691	727	N/A	INTRINSIC
low complexity region	751	764	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229618

Predicted Effect

probably benign
Transcript: ENSMUST00000169162

Predicted Effect

probably benign
Transcript: ENSMUST00000229854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229822

Predicted Effect

probably benign
Transcript: ENSMUST00000169367

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	T	C	1: 165,386,697 (GRCm39)	V1140A	probably damaging	Het
Ccdc88b	A	G	19: 6,833,475 (GRCm39)		probably null	Het
Cep135	A	G	5: 76,782,093 (GRCm39)	N904S	probably benign	Het
Dnajc12	G	A	10: 63,244,037 (GRCm39)	R109Q	probably damaging	Het
Dpp4	A	G	2: 62,187,295 (GRCm39)		probably benign	Het
Duox2	A	T	2: 122,124,566 (GRCm39)	N380K	probably benign	Het
Dusp11	A	T	6: 85,935,599 (GRCm39)	D91E	probably damaging	Het
Fkbp15	C	A	4: 62,254,703 (GRCm39)	E266*	probably null	Het
Grik3	A	T	4: 125,517,295 (GRCm39)	D46V	possibly damaging	Het
Hdac9	G	A	12: 34,481,925 (GRCm39)	T181I	probably damaging	Het
Iigp1c	A	T	18: 60,379,151 (GRCm39)	I229F	probably damaging	Het
Large1	T	A	8: 73,544,721 (GRCm39)	M686L	probably benign	Het
Lca5	C	A	9: 83,280,638 (GRCm39)	L387F	possibly damaging	Het
Mtmr9	A	T	14: 63,767,725 (GRCm39)	W295R	probably damaging	Het
Or2h15	A	G	17: 38,441,484 (GRCm39)	S200P	probably damaging	Het
Or5ac15	A	C	16: 58,940,378 (GRCm39)	D18E	probably benign	Het
Phf20l1	T	A	15: 66,487,259 (GRCm39)		probably null	Het
Plce1	A	G	19: 38,513,201 (GRCm39)	S167G	probably benign	Het
Plekha6	C	A	1: 133,221,599 (GRCm39)	D934E	possibly damaging	Het
Pramel17	T	C	4: 101,695,306 (GRCm39)	S2G	possibly damaging	Het
Ptpn6	A	C	6: 124,705,828 (GRCm39)	D105E	probably null	Het
Rtp1	T	C	16: 23,250,063 (GRCm39)	S143P	probably benign	Het
Rttn	A	C	18: 89,066,578 (GRCm39)	Q1208P	possibly damaging	Het
Snx27	A	T	3: 94,438,686 (GRCm39)	V183D	probably damaging	Het
Stim2	T	C	5: 54,210,712 (GRCm39)		probably benign	Het
Trak1	A	T	9: 121,280,734 (GRCm39)	E271D	probably damaging	Het
Ttn	A	T	2: 76,774,226 (GRCm39)		probably benign	Het
Vmn2r4	G	A	3: 64,313,877 (GRCm39)	T279I	possibly damaging	Het
Vmn2r73	A	T	7: 85,518,980 (GRCm39)		probably null	Het
Zfp819	G	A	7: 43,261,428 (GRCm39)	V32I	possibly damaging	Het

Other mutations in Gm10337

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5067:Gm10337	UTSW	15	102,412,306 (GRCm39)	splice site	probably null

Posted On

2015-04-16