Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00928:Sh2d7'

28171

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh2d7

Ensembl Gene

ENSMUSG00000046460

Gene Name

SH2 domain containing 7

Synonyms

4933412E14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL00928

Quality Score

Status

Chromosome

Chromosomal Location

54441430-54452304 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54448515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 179 (T179A)

Ref Sequence

ENSEMBL: ENSMUSP00000113298 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041901] [ENSMUST00000060242] [ENSMUST00000118413]

AlphaFold

Q8BI17

Predicted Effect

probably benign
Transcript: ENSMUST00000041901

SMART Domains

Protein: ENSMUSP00000038527
Gene: ENSMUSG00000037493

Domain	Start	End	E-Value	Type
EFh	73	98	8.33e1	SMART
EFh	107	135	5.38e0	SMART
EFh	148	176	3.3e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060242
AA Change: T179A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053690
Gene: ENSMUSG00000046460
AA Change: T179A

Domain	Start	End	E-Value	Type
Blast:SH2	1	51	7e-6	BLAST
low complexity region	165	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118413
AA Change: T179A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113298
Gene: ENSMUSG00000046460
AA Change: T179A

Domain	Start	End	E-Value	Type
Blast:SH2	1	51	7e-6	BLAST
low complexity region	165	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157176

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,217,720 (GRCm39)		probably benign	Het
Ablim3	T	C	18: 61,982,477 (GRCm39)	E156G	possibly damaging	Het
Adgrb2	A	G	4: 129,886,096 (GRCm39)	T79A	probably benign	Het
Arel1	A	T	12: 84,980,936 (GRCm39)	V357E	probably damaging	Het
Asph	T	C	4: 9,594,675 (GRCm39)	I241V	probably benign	Het
B3galt2	A	G	1: 143,522,893 (GRCm39)	Y343C	probably damaging	Het
Brf1	A	G	12: 112,927,220 (GRCm39)		probably benign	Het
Col3a1	A	G	1: 45,380,018 (GRCm39)		probably benign	Het
Cps1	A	C	1: 67,162,393 (GRCm39)	T24P	probably benign	Het
Cyp3a25	A	G	5: 145,923,764 (GRCm39)	L293P	possibly damaging	Het
Engase	C	A	11: 118,373,796 (GRCm39)	R313S	possibly damaging	Het
Espn	A	G	4: 152,220,059 (GRCm39)	S28P	probably damaging	Het
Gnas	T	A	2: 174,139,746 (GRCm39)	L31*	probably null	Het
Gorasp2	A	G	2: 70,521,208 (GRCm39)	T393A	probably benign	Het
Gpc6	T	A	14: 117,163,370 (GRCm39)	V8E	possibly damaging	Het
Gtf2a1l	T	C	17: 89,001,890 (GRCm39)	S202P	probably benign	Het
Gucy1a2	T	C	9: 3,759,777 (GRCm39)	F528L	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Igsf10	T	C	3: 59,238,018 (GRCm39)	H721R	probably benign	Het
Kcnu1	T	C	8: 26,339,763 (GRCm39)	F27S	probably damaging	Het
Mprip	T	A	11: 59,635,578 (GRCm39)	W366R	probably damaging	Het
Myom1	T	C	17: 71,396,908 (GRCm39)	V954A	probably damaging	Het
Nudt13	T	C	14: 20,366,231 (GRCm39)	I303T	possibly damaging	Het
Or10s1	T	A	9: 39,986,072 (GRCm39)	H160Q	probably damaging	Het
Or2h1	A	C	17: 37,404,224 (GRCm39)	S181A	probably benign	Het
Orc4	A	G	2: 48,800,281 (GRCm39)	V289A	probably benign	Het
Pamr1	C	A	2: 102,469,686 (GRCm39)	Q411K	probably benign	Het
Pdcl	A	G	2: 37,247,386 (GRCm39)	M1T	probably null	Het
Phf20	T	C	2: 156,146,736 (GRCm39)		probably null	Het
Pla2r1	T	C	2: 60,365,424 (GRCm39)	S49G	probably damaging	Het
Ppp2r3c	A	G	12: 55,339,283 (GRCm39)		probably null	Het
Rdh14	G	A	12: 10,444,803 (GRCm39)	S218N	probably damaging	Het
Rfx4	A	G	10: 84,675,978 (GRCm39)	R16G	probably benign	Het
Scarb2	A	C	5: 92,594,203 (GRCm39)	F453C	probably damaging	Het
Spag6l	C	T	16: 16,584,877 (GRCm39)	A424T	possibly damaging	Het
Trim71	T	C	9: 114,354,083 (GRCm39)	D307G	probably benign	Het
Ufl1	A	T	4: 25,267,790 (GRCm39)	L294M	probably damaging	Het
Wdr93	C	A	7: 79,425,301 (GRCm39)	P540Q	probably damaging	Het
Wmp	T	A	X: 106,989,449 (GRCm39)	E488V	possibly damaging	Het

Other mutations in Sh2d7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01906:Sh2d7	APN	9	54,446,750 (GRCm39)	utr 5 prime	probably benign
IGL02724:Sh2d7	APN	9	54,448,105 (GRCm39)	missense	probably benign	0.13
R0482:Sh2d7	UTSW	9	54,448,321 (GRCm39)	missense	probably benign	0.00
R0669:Sh2d7	UTSW	9	54,448,633 (GRCm39)	missense	probably benign	0.00
R1187:Sh2d7	UTSW	9	54,448,471 (GRCm39)	missense	probably benign	0.40
R5809:Sh2d7	UTSW	9	54,446,860 (GRCm39)	missense	probably benign	0.01
R7286:Sh2d7	UTSW	9	54,448,186 (GRCm39)	missense	possibly damaging	0.62
R8350:Sh2d7	UTSW	9	54,448,191 (GRCm39)	missense	probably benign	0.43
R8450:Sh2d7	UTSW	9	54,448,191 (GRCm39)	missense	probably benign	0.43

Posted On

2013-04-17