Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Sh2d4a'

80765

Institutional Source

Beutler Lab

Gene Symbol

Sh2d4a

Ensembl Gene

ENSMUSG00000053886

Gene Name

SH2 domain containing 4A

Synonyms

SH2A, 2210402M20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68729219-68800351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 68787775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 294 (F294I)

Ref Sequence

ENSEMBL: ENSMUSP00000070825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066594]

AlphaFold

Q9D7V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000066594
AA Change: F294I

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

SMART Domains

Protein: ENSMUSP00000070825
Gene: ENSMUSG00000053886
AA Change: F294I

Domain	Start	End	E-Value	Type
low complexity region	248	266	N/A	INTRINSIC
SH2	313	396	2.5e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000212166
AA Change: F268I

Meta Mutation Damage Score

0.6425

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display normal T cell development, homeostasis, proliferation, and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	G	T	17: 84,990,705 (GRCm39)	V16L	probably benign	Het
Adamts18	A	T	8: 114,432,028 (GRCm39)		probably null	Het
Agpat4	A	T	17: 12,417,723 (GRCm39)	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,627 (GRCm39)		probably null	Het
Ankrd2	T	A	19: 42,032,292 (GRCm39)		probably null	Het
Anxa6	A	T	11: 54,885,214 (GRCm39)		probably null	Het
Bpi	A	G	2: 158,103,346 (GRCm39)	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,652,857 (GRCm39)	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,570,860 (GRCm39)	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,785,009 (GRCm39)		probably null	Het
Cars1	T	A	7: 143,124,307 (GRCm39)	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,751,618 (GRCm39)	G316V	probably damaging	Het
Cd244a	T	A	1: 171,404,801 (GRCm39)		probably null	Het
Ces1a	C	T	8: 93,749,044 (GRCm39)	D456N	probably benign	Het
Cul3	A	T	1: 80,267,835 (GRCm39)	M102K	probably damaging	Het
Dact1	A	G	12: 71,365,234 (GRCm39)	R672G	probably damaging	Het
Dapk1	T	C	13: 60,905,262 (GRCm39)	F991L	probably benign	Het
Dlg5	G	A	14: 24,185,645 (GRCm39)	P1920L	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Exosc4	A	G	15: 76,211,734 (GRCm39)	I14M	probably benign	Het
Ezr	G	A	17: 7,021,398 (GRCm39)	R180*	probably null	Het
Fcgbpl1	A	T	7: 27,839,555 (GRCm39)	Y456F	probably damaging	Het
Fyb1	A	T	15: 6,668,309 (GRCm39)	I501F	probably damaging	Het
Hdac5	G	T	11: 102,095,472 (GRCm39)	P383Q	probably benign	Het
Hmx3	A	T	7: 131,144,813 (GRCm39)	H41L	probably benign	Het
Krt36	A	G	11: 99,994,225 (GRCm39)	F284S	probably damaging	Het
L1td1	A	G	4: 98,625,862 (GRCm39)	N686D	probably damaging	Het
Lsamp	G	A	16: 41,709,327 (GRCm39)	G86S	probably benign	Het
Myh8	A	G	11: 67,196,824 (GRCm39)	E1819G	possibly damaging	Het
Myo7a	A	T	7: 97,747,463 (GRCm39)	I129N	probably damaging	Het
Nckap1	A	T	2: 80,384,593 (GRCm39)	C114S	probably benign	Het
Nphp4	T	G	4: 152,622,512 (GRCm39)	L599R	probably benign	Het
Nrcam	A	G	12: 44,596,667 (GRCm39)	I301V	probably benign	Het
Or6b2b	A	G	1: 92,419,127 (GRCm39)	S117P	possibly damaging	Het
Os9	C	T	10: 126,932,924 (GRCm39)	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,466,598 (GRCm39)		probably null	Het
Pgm2	A	T	5: 64,269,490 (GRCm39)	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,464,105 (GRCm39)	D248G	possibly damaging	Het
Rab43	A	T	6: 87,769,752 (GRCm39)	Y151*	probably null	Het
Rbm19	A	G	5: 120,264,269 (GRCm39)	E343G	probably benign	Het
Rel	A	T	11: 23,692,439 (GRCm39)	D531E	probably benign	Het
Rfx4	T	A	10: 84,704,291 (GRCm39)	V262E	probably damaging	Het
Ryr3	A	G	2: 112,672,178 (GRCm39)	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,729,271 (GRCm39)	I1102T	probably benign	Het
Sema3d	A	C	5: 12,513,183 (GRCm39)	D51A	possibly damaging	Het
Slc3a1	A	G	17: 85,367,171 (GRCm39)	T453A	probably benign	Het
Sod1	A	G	16: 90,022,071 (GRCm39)	D93G	probably benign	Het
Sptan1	A	G	2: 29,906,040 (GRCm39)	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,512,526 (GRCm39)	M1R	probably null	Het
Tbc1d7	A	T	13: 43,318,812 (GRCm39)	Y108*	probably null	Het
Ticam1	A	T	17: 56,577,226 (GRCm39)	V623D	unknown	Het
Ticam1	A	G	17: 56,578,687 (GRCm39)	L136P	probably damaging	Het
Tjap1	A	C	17: 46,569,455 (GRCm39)	W512G	possibly damaging	Het
Unc80	A	T	1: 66,549,800 (GRCm39)	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,221,040 (GRCm39)	F213I	probably damaging	Het
Xdh	A	C	17: 74,230,077 (GRCm39)	W285G	probably benign	Het
Zfp646	C	T	7: 127,482,982 (GRCm39)	Q1500*	probably null	Het

Other mutations in Sh2d4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Sh2d4a	APN	8	68,782,018 (GRCm39)	splice site	probably null
R0078:Sh2d4a	UTSW	8	68,734,973 (GRCm39)	missense	probably damaging	0.98
R0608:Sh2d4a	UTSW	8	68,799,346 (GRCm39)	missense	possibly damaging	0.92
R0701:Sh2d4a	UTSW	8	68,783,747 (GRCm39)	missense	probably damaging	1.00
R0924:Sh2d4a	UTSW	8	68,787,775 (GRCm39)	missense	probably damaging	1.00
R1690:Sh2d4a	UTSW	8	68,747,101 (GRCm39)	missense	probably benign	0.00
R1744:Sh2d4a	UTSW	8	68,783,807 (GRCm39)	missense	possibly damaging	0.93
R1864:Sh2d4a	UTSW	8	68,781,967 (GRCm39)	missense	probably benign	0.38
R2011:Sh2d4a	UTSW	8	68,799,394 (GRCm39)	missense	probably benign	0.02
R2014:Sh2d4a	UTSW	8	68,783,735 (GRCm39)	missense	probably damaging	1.00
R2172:Sh2d4a	UTSW	8	68,749,316 (GRCm39)	missense	probably benign	0.00
R4010:Sh2d4a	UTSW	8	68,787,799 (GRCm39)	missense	probably damaging	1.00
R4542:Sh2d4a	UTSW	8	68,799,394 (GRCm39)	missense	probably benign	0.01
R5522:Sh2d4a	UTSW	8	68,749,349 (GRCm39)	missense	probably benign	0.38
R6627:Sh2d4a	UTSW	8	68,746,970 (GRCm39)	missense	probably damaging	1.00
R7482:Sh2d4a	UTSW	8	68,749,328 (GRCm39)	missense	probably benign
R7807:Sh2d4a	UTSW	8	68,735,033 (GRCm39)	missense	probably benign	0.00
R7955:Sh2d4a	UTSW	8	68,781,907 (GRCm39)	missense	probably benign	0.10
R8725:Sh2d4a	UTSW	8	68,798,695 (GRCm39)	missense	probably damaging	1.00
R8727:Sh2d4a	UTSW	8	68,798,695 (GRCm39)	missense	probably damaging	1.00
R9364:Sh2d4a	UTSW	8	68,747,018 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-11-07