Mutagenetix > Incidental Mutation

Incidental Mutation 'R4542:Sh2d4a'

333582

Institutional Source

Beutler Lab

Gene Symbol

Sh2d4a

Ensembl Gene

ENSMUSG00000053886

Gene Name

SH2 domain containing 4A

Synonyms

SH2A, 2210402M20Rik

MMRRC Submission

041593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4542 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68729219-68800351 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 68799394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 421 (Q421R)

Ref Sequence

ENSEMBL: ENSMUSP00000070825 (fasta)

Gene Model

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

AlphaFold

Q9D7V1

Predicted Effect

probably benign
Transcript: ENSMUST00000066594
AA Change: Q421R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000070825
Gene: ENSMUSG00000053886
AA Change: Q421R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212166

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,875 (GRCm39)	L833Q	probably damaging	Het
Adcy6	C	G	15: 98,496,869 (GRCm39)	V469L	possibly damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bean1	T	A	8: 104,937,591 (GRCm39)	F57I	probably damaging	Het
Brinp1	T	C	4: 68,680,329 (GRCm39)	I734V	probably benign	Het
Cab39l	C	A	14: 59,734,351 (GRCm39)	D23E	probably benign	Het
Cfap54	T	C	10: 92,860,991 (GRCm39)	T839A	probably benign	Het
Clgn	A	G	8: 84,146,838 (GRCm39)	E297G	probably damaging	Het
Crip1	A	G	12: 113,117,109 (GRCm39)	Y108C	probably damaging	Het
Cxcr2	A	G	1: 74,197,688 (GRCm39)	S61G	probably benign	Het
Dph5	T	C	3: 115,722,274 (GRCm39)	S251P	probably damaging	Het
E2f7	T	A	10: 110,602,984 (GRCm39)	V333E	probably damaging	Het
Eif4g3	A	G	4: 137,930,728 (GRCm39)	D918G	probably damaging	Het
Epn1	A	G	7: 5,096,980 (GRCm39)	E254G	possibly damaging	Het
Fat1	T	C	8: 45,494,931 (GRCm39)	C4065R	probably damaging	Het
Gja1	T	C	10: 56,264,148 (GRCm39)	F169S	probably damaging	Het
Kmt2b	A	G	7: 30,279,684 (GRCm39)	I1384T	probably damaging	Het
Ltbp2	A	T	12: 84,878,593 (GRCm39)	L302*	probably null	Het
Nalcn	T	C	14: 123,558,889 (GRCm39)		silent	Het
Nlrp1b	A	C	11: 71,119,151 (GRCm39)	L48W	probably damaging	Het
Nlrp4c	G	A	7: 6,103,826 (GRCm39)	W920*	probably null	Het
Nr2f1	C	T	13: 78,337,940 (GRCm39)	G235D	probably damaging	Het
Nt5dc2	T	A	14: 30,860,095 (GRCm39)	D374E	probably benign	Het
Or2d3	GAACAACAACAA	GAACAACAA	7: 106,490,567 (GRCm39)		probably benign	Het
Or51e2	T	C	7: 102,391,850 (GRCm39)	D120G	probably damaging	Het
Or5ak23	T	C	2: 85,244,287 (GRCm39)	D312G	probably benign	Het
Pikfyve	T	C	1: 65,283,589 (GRCm39)	I742T	probably damaging	Het
Rftn1	A	G	17: 50,362,259 (GRCm39)		probably null	Het
Rfx1	G	A	8: 84,816,866 (GRCm39)	G466S	probably damaging	Het
Scn11a	A	T	9: 119,584,200 (GRCm39)	S1472T	probably damaging	Het
Slc25a10	G	A	11: 120,388,807 (GRCm39)		probably null	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Spen	T	C	4: 141,204,097 (GRCm39)	Y1510C	unknown	Het
Ssu72	A	G	4: 155,817,934 (GRCm39)	Q163R	probably benign	Het
Stau1	A	G	2: 166,795,181 (GRCm39)	Y223H	probably damaging	Het
Syne3	A	T	12: 104,935,503 (GRCm39)	S92T	probably benign	Het
Ulbp1	T	C	10: 7,406,570 (GRCm39)	D45G	probably damaging	Het
Ulk4	G	A	9: 121,092,704 (GRCm39)	R178*	probably null	Het
Vmn1r67	A	G	7: 10,181,357 (GRCm39)	Y207C	probably damaging	Het
Vmn2r59	T	C	7: 41,695,497 (GRCm39)	D305G	possibly damaging	Het
Zbtb18	A	G	1: 177,276,232 (GRCm39)	K522E	probably damaging	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
R0930: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
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

PCR Primer
(F):5'- GGTATGCATAAACCCAGGGTAG -3'
(R):5'- AGGATGTTGCAAATGTGGGTAC -3'

Sequencing Primer
(F):5'- CCCAGGGTAGAGGAGTGATCTC -3'
(R):5'- CCTTTTCCTTTCAGAATGAGGATGAG -3'

Posted On

2015-08-18