Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02950:Sh2d6'

364928

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh2d6

Ensembl Gene

ENSMUSG00000052631

Gene Name

SH2 domain containing 6

Synonyms

4933424C13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL02950

Quality Score

Status

Chromosome

Chromosomal Location

72490624-72498690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72492285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 260 (V260A)

Ref Sequence

ENSEMBL: ENSMUSP00000124673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089687] [ENSMUST00000159877] [ENSMUST00000162561]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000089687
AA Change: V233A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631
AA Change: V233A

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
SH2	184	276	3.15e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159577

Predicted Effect

probably damaging
Transcript: ENSMUST00000159877
AA Change: V187A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631
AA Change: V187A

Domain	Start	End	E-Value	Type
low complexity region	117	130	N/A	INTRINSIC
SH2	138	230	3.15e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160123

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160761

Predicted Effect

probably damaging
Transcript: ENSMUST00000162561
AA Change: V260A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631
AA Change: V260A

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	190	203	N/A	INTRINSIC
SH2	211	303	3.15e-16	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,814,406 (GRCm39)	S1129C	possibly damaging	Het
Afm	A	T	5: 90,679,466 (GRCm39)	D320V	probably damaging	Het
Ap5m1	C	T	14: 49,311,392 (GRCm39)	T154I	probably benign	Het
Bcl11b	G	A	12: 107,956,065 (GRCm39)	T28I	probably benign	Het
Bhlhe40	G	T	6: 108,641,503 (GRCm39)	C149F	probably damaging	Het
Bmper	A	T	9: 23,310,790 (GRCm39)	D408V	probably damaging	Het
C1rl	G	A	6: 124,485,820 (GRCm39)	C397Y	probably damaging	Het
C2cd4c	A	G	10: 79,448,665 (GRCm39)	S161P	probably damaging	Het
Cemip2	A	T	19: 21,819,564 (GRCm39)	K1118N	probably benign	Het
Cep290	T	C	10: 100,376,191 (GRCm39)		probably benign	Het
Cp	T	C	3: 20,042,165 (GRCm39)	Y978H	probably damaging	Het
Csf2ra	T	C	19: 61,215,607 (GRCm39)	D37G	probably benign	Het
Ddx24	A	G	12: 103,383,801 (GRCm39)	V596A	probably damaging	Het
Dnmt3l	A	G	10: 77,886,785 (GRCm39)	S82G	probably benign	Het
Dock1	A	G	7: 134,331,753 (GRCm39)	Y46C	probably damaging	Het
Eno2	A	T	6: 124,740,081 (GRCm39)	D318E	probably damaging	Het
Gm43738	A	C	3: 88,996,355 (GRCm39)	L120R	probably damaging	Het
Hgsnat	C	A	8: 26,461,729 (GRCm39)	C29F	probably damaging	Het
Hltf	T	A	3: 20,130,736 (GRCm39)	V318D	probably benign	Het
Kcnh8	A	G	17: 53,263,795 (GRCm39)	H764R	probably benign	Het
Kcnq3	A	G	15: 65,892,142 (GRCm39)	F411S	probably benign	Het
Lpcat4	C	A	2: 112,074,387 (GRCm39)	N287K	possibly damaging	Het
Ltbp4	A	C	7: 27,006,143 (GRCm39)	F1512V	probably damaging	Het
Mctp1	A	T	13: 77,172,929 (GRCm39)	L868F	probably damaging	Het
Mdn1	T	C	4: 32,713,360 (GRCm39)		probably benign	Het
Or5g23	A	T	2: 85,438,501 (GRCm39)	L251Q	possibly damaging	Het
Otub2	A	G	12: 103,369,632 (GRCm39)	D237G	probably damaging	Het
Pax3	A	G	1: 78,079,997 (GRCm39)	V463A	probably benign	Het
Podn	T	C	4: 107,875,048 (GRCm39)	K573R	possibly damaging	Het
Ppp5c	A	C	7: 16,740,835 (GRCm39)	S378A	probably benign	Het
Pramel29	A	G	4: 143,939,531 (GRCm39)	V2A	probably benign	Het
Prl2a1	T	A	13: 27,988,914 (GRCm39)	L13Q	probably damaging	Het
Ptgir	A	G	7: 16,641,526 (GRCm39)	T70A	probably damaging	Het
Ralyl	C	A	3: 14,104,781 (GRCm39)	N15K	probably damaging	Het
Rbck1	C	T	2: 152,172,997 (GRCm39)	R17Q	possibly damaging	Het
Ryr1	A	G	7: 28,796,884 (GRCm39)	Y973H	probably damaging	Het
Spen	G	A	4: 141,196,819 (GRCm39)	P3559S	probably damaging	Het
Tbcd	T	A	11: 121,494,535 (GRCm39)	V1032D	probably damaging	Het
Trav12-1	T	A	14: 53,776,024 (GRCm39)	V59E	probably damaging	Het
Unc93a	T	A	17: 13,344,455 (GRCm39)	Q29L	probably damaging	Het
Zzef1	A	G	11: 72,808,525 (GRCm39)		probably benign	Het

Other mutations in Sh2d6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Sh2d6	APN	6	72,496,812 (GRCm39)	missense	probably benign
IGL01386:Sh2d6	APN	6	72,495,945 (GRCm39)	missense	probably benign	0.04
IGL02058:Sh2d6	APN	6	72,490,961 (GRCm39)	nonsense	probably null
IGL02963:Sh2d6	APN	6	72,494,584 (GRCm39)	missense	probably benign	0.01
R1981:Sh2d6	UTSW	6	72,494,527 (GRCm39)	splice site	probably benign
R2304:Sh2d6	UTSW	6	72,497,542 (GRCm39)	missense	probably damaging	1.00
R4520:Sh2d6	UTSW	6	72,495,936 (GRCm39)	missense	possibly damaging	0.48
R4793:Sh2d6	UTSW	6	72,494,581 (GRCm39)	missense	probably benign
R5079:Sh2d6	UTSW	6	72,496,833 (GRCm39)	missense	probably benign	0.02
R7424:Sh2d6	UTSW	6	72,494,147 (GRCm39)	missense	probably benign	0.05
R9045:Sh2d6	UTSW	6	72,492,604 (GRCm39)	missense	probably benign	0.22
R9246:Sh2d6	UTSW	6	72,497,594 (GRCm39)	nonsense	probably null
RF013:Sh2d6	UTSW	6	72,493,371 (GRCm39)	critical splice donor site	probably null

Posted On

2015-12-18