Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02058:Sh2d6'

185299

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 #

IGL02058

Quality Score

Status

Chromosome

Chromosomal Location

72490624-72498690 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 72490961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 307 (G307*)

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 null
Transcript: ENSMUST00000089687
AA Change: G280*

SMART Domains

Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631
AA Change: G280*

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 null
Transcript: ENSMUST00000159877
AA Change: G234*

SMART Domains

Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631
AA Change: G234*

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 null
Transcript: ENSMUST00000162561
AA Change: G307*

SMART Domains

Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631
AA Change: G307*

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	A	2: 69,073,842 (GRCm39)	A1228S	probably damaging	Het
Adamts12	G	A	15: 11,215,696 (GRCm39)	R239K	probably benign	Het
Akap6	A	G	12: 53,187,338 (GRCm39)	D1584G	probably damaging	Het
Asns	A	G	6: 7,685,184 (GRCm39)	C158R	probably damaging	Het
Atr	T	C	9: 95,753,540 (GRCm39)	L714P	probably damaging	Het
Ccdc126	G	T	6: 49,311,134 (GRCm39)	E47D	probably benign	Het
Cemip	T	C	7: 83,646,500 (GRCm39)	S183G	probably damaging	Het
Cntn3	A	G	6: 102,176,321 (GRCm39)		probably benign	Het
Cyp11b2	G	T	15: 74,725,038 (GRCm39)	N270K	probably benign	Het
Ephx2	A	G	14: 66,341,173 (GRCm39)		probably null	Het
Fcho2	G	A	13: 98,867,414 (GRCm39)	T683I	probably damaging	Het
Grm7	G	A	6: 111,335,278 (GRCm39)	C563Y	probably damaging	Het
Hmcn1	T	C	1: 150,579,932 (GRCm39)	N1935S	probably benign	Het
Hus1b	A	G	13: 31,130,900 (GRCm39)	L253S	probably benign	Het
Kmt5b	T	C	19: 3,843,181 (GRCm39)	Y93H	probably damaging	Het
Krt73	A	T	15: 101,710,456 (GRCm39)	S93T	probably benign	Het
Lrp8	T	C	4: 107,727,306 (GRCm39)	V917A	probably benign	Het
Map2k6	C	T	11: 110,383,409 (GRCm39)	T106M	probably damaging	Het
Ncor1	A	G	11: 62,235,463 (GRCm39)	S664P	probably damaging	Het
Nmt1	C	T	11: 102,943,116 (GRCm39)	T157I	probably benign	Het
Nup160	T	C	2: 90,560,051 (GRCm39)	S1259P	probably damaging	Het
Pak1	C	T	7: 97,560,322 (GRCm39)	A523V	probably damaging	Het
Parpbp	A	C	10: 87,979,898 (GRCm39)	S19R	probably benign	Het
Pdzd2	G	T	15: 12,376,382 (GRCm39)	T1251N	possibly damaging	Het
Phaf1	T	A	8: 105,966,341 (GRCm39)	I105N	probably damaging	Het
Pitpnm3	A	T	11: 72,010,965 (GRCm39)	N22K	probably benign	Het
Pkn1	G	T	8: 84,407,854 (GRCm39)	C418*	probably null	Het
Pkn2	A	G	3: 142,509,424 (GRCm39)	F723L	probably damaging	Het
Pkp4	C	T	2: 59,142,073 (GRCm39)	R459*	probably null	Het
Prex1	A	C	2: 166,427,103 (GRCm39)	S871A	probably benign	Het
Ptprz1	A	G	6: 23,002,502 (GRCm39)	T1531A	probably benign	Het
Rad1	C	A	15: 10,493,361 (GRCm39)	Q263K	probably benign	Het
Slc52a3	T	A	2: 151,847,811 (GRCm39)	N306K	probably damaging	Het
Spock3	A	T	8: 63,698,232 (GRCm39)	R195*	probably null	Het
Stil	A	G	4: 114,871,359 (GRCm39)	S310G	probably benign	Het
Wbp1l	T	A	19: 46,640,959 (GRCm39)	C80*	probably null	Het
Wnt2b	A	G	3: 104,854,408 (GRCm39)	V350A	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
IGL02950:Sh2d6	APN	6	72,492,285 (GRCm39)	missense	probably damaging	1.00
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

2014-05-07