Mutagenetix > Incidental Mutation

Incidental Mutation 'R4970:Sh2b1'

384378

Institutional Source

Beutler Lab

Gene Symbol

Sh2b1

Ensembl Gene

ENSMUSG00000030733

Gene Name

SH2B adaptor protein 1

Synonyms

SH2-Bb, Sh2bpsm1, Irip, SH2-B

MMRRC Submission

042565-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R4970 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126066166-126074596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126067975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 560 (R560W)

Ref Sequence

ENSEMBL: ENSMUSP00000146282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000205889] [ENSMUST00000206664] [ENSMUST00000206643]

AlphaFold

Q91ZM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000032978
AA Change: R560W

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

SMART Domains

Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: R560W

Domain	Start	End	E-Value	Type
Pfam:Phe_ZIP	25	81	4.6e-25	PFAM
low complexity region	83	99	N/A	INTRINSIC
low complexity region	133	151	N/A	INTRINSIC
low complexity region	156	168	N/A	INTRINSIC
low complexity region	195	205	N/A	INTRINSIC
PH	247	378	4.82e-7	SMART
low complexity region	447	460	N/A	INTRINSIC
low complexity region	466	483	N/A	INTRINSIC
SH2	525	610	2.84e-23	SMART
low complexity region	668	677	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000205340
AA Change: R560W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205440
AA Change: R560W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205497
AA Change: R560W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205733
AA Change: R560W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000205889
AA Change: R560W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206515

Predicted Effect

probably benign
Transcript: ENSMUST00000206664

Predicted Effect

probably benign
Transcript: ENSMUST00000206643

Meta Mutation Damage Score

0.3019

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (114/115)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]
PHENOTYPE: Homozygous null mice are infertile. Female mice have small, anovulatory ovaries with reduced numbers of follicles and male mice exhibit small testes and sperm deficits. Mice homozygous for a floxed allele activated in the pancreas exhibit impaired glucose homeostasis when fed a high fat diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,222,066 (GRCm39)		noncoding transcript	Het
Aars1	A	G	8: 111,770,311 (GRCm39)	M370V	probably benign	Het
Abca2	A	G	2: 25,328,383 (GRCm39)	K846R	probably damaging	Het
Acad9	A	T	3: 36,139,674 (GRCm39)	I425F	probably damaging	Het
Adhfe1	C	A	1: 9,628,463 (GRCm39)	D278E	possibly damaging	Het
Afg3l1	G	A	8: 124,225,392 (GRCm39)	V532I	probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano7	G	A	1: 93,325,085 (GRCm39)	V546M	possibly damaging	Het
Aox1	G	A	1: 58,349,254 (GRCm39)		probably null	Het
Asah1	G	T	8: 41,813,314 (GRCm39)	S33*	probably null	Het
Astn1	C	T	1: 158,484,763 (GRCm39)	S15F	possibly damaging	Het
Bag4	A	T	8: 26,261,272 (GRCm39)	Y156*	probably null	Het
Bmpr1b	T	C	3: 141,550,948 (GRCm39)	E381G	probably damaging	Het
Btnl7-ps	A	G	17: 34,756,092 (GRCm39)		noncoding transcript	Het
Caap1	A	T	4: 94,409,297 (GRCm39)		probably null	Het
Card10	C	T	15: 78,686,580 (GRCm39)		probably null	Het
Ccp110	T	C	7: 118,321,614 (GRCm39)	V423A	possibly damaging	Het
Cdc123	A	G	2: 5,809,748 (GRCm39)	L221P	possibly damaging	Het
Cdh19	A	G	1: 110,882,354 (GRCm39)	V46A	possibly damaging	Het
Cfap57	A	G	4: 118,477,568 (GRCm39)	F12S	probably damaging	Het
Clvs1	A	G	4: 9,350,857 (GRCm39)		probably benign	Het
Dgkh	A	T	14: 78,856,077 (GRCm39)	V199E	probably damaging	Het
Dhx32	T	A	7: 133,340,384 (GRCm39)		probably benign	Het
Dpf3	G	T	12: 83,417,385 (GRCm39)	S29*	probably null	Het
Efcab7	C	A	4: 99,719,780 (GRCm39)	S87R	probably damaging	Het
Fam81a	G	A	9: 70,000,872 (GRCm39)	Q291*	probably null	Het
Fbxo41	G	T	6: 85,454,906 (GRCm39)	N667K	probably damaging	Het
Flacc1	T	C	1: 58,698,441 (GRCm39)	T326A	probably benign	Het
Gm10313	A	T	8: 46,708,462 (GRCm39)		noncoding transcript	Het
Gm28051	G	A	12: 102,686,430 (GRCm39)	Q77*	probably null	Het
Gm5535	T	A	2: 144,016,569 (GRCm39)		noncoding transcript	Het
Gtf2ird1	A	T	5: 134,431,038 (GRCm39)	D339E	probably damaging	Het
Gvin3	A	T	7: 106,199,864 (GRCm39)		noncoding transcript	Het
Igfbp7	A	G	5: 77,555,608 (GRCm39)	M85T	possibly damaging	Het
Il20ra	A	G	10: 19,634,691 (GRCm39)	T311A	possibly damaging	Het
Il24	T	C	1: 130,811,179 (GRCm39)		probably null	Het
Itch	T	C	2: 155,027,513 (GRCm39)	F379L	possibly damaging	Het
Itgad	T	A	7: 127,789,015 (GRCm39)	V488D	possibly damaging	Het
Itpr2	A	T	6: 146,135,489 (GRCm39)	M1814K	possibly damaging	Het
Kirrel3	A	G	9: 34,855,735 (GRCm39)	E92G	possibly damaging	Het
Lpin2	T	C	17: 71,538,329 (GRCm39)	V325A	probably damaging	Het
Lrba	C	T	3: 86,132,678 (GRCm39)	T28M	probably benign	Het
Lrch3	T	C	16: 32,818,883 (GRCm39)	Y661H	probably damaging	Het
Lrfn5	C	A	12: 61,886,461 (GRCm39)	S83Y	probably damaging	Het
Lrp1	A	C	10: 127,375,389 (GRCm39)	L4435R	probably benign	Het
Lrrn1	A	G	6: 107,546,305 (GRCm39)	D701G	probably benign	Het
Map4k3	A	T	17: 80,961,332 (GRCm39)	Y125N	probably benign	Het
Mau2	A	T	8: 70,480,353 (GRCm39)	H273Q	possibly damaging	Het
Med16	A	C	10: 79,742,871 (GRCm39)		probably null	Het
Mmp17	A	G	5: 129,679,229 (GRCm39)	H376R	possibly damaging	Het
Nlrp12	G	A	7: 3,289,613 (GRCm39)	H300Y	possibly damaging	Het
Nlrp3	A	T	11: 59,439,554 (GRCm39)	Y377F	probably damaging	Het
Notch2	T	C	3: 98,008,952 (GRCm39)		probably null	Het
Nudcd1	A	T	15: 44,240,039 (GRCm39)	C500*	probably null	Het
Or52z14	T	C	7: 103,253,197 (GRCm39)	I112T	probably damaging	Het
Or5d37	A	G	2: 87,923,353 (GRCm39)	V309A	probably damaging	Het
Or6b6	T	A	7: 106,570,778 (GRCm39)	M258L	probably benign	Het
Or8g23	A	T	9: 38,971,827 (GRCm39)	M45K	probably benign	Het
Or8h9	A	T	2: 86,789,698 (GRCm39)	Y35N	probably damaging	Het
Pcdhb20	T	A	18: 37,639,824 (GRCm39)	N783K	probably benign	Het
Pclo	T	A	5: 14,727,896 (GRCm39)		probably benign	Het
Pdyn	T	A	2: 129,530,021 (GRCm39)	D216V	probably damaging	Het
Phldb3	A	T	7: 24,324,110 (GRCm39)	I495F	possibly damaging	Het
Pmpca	A	T	2: 26,285,178 (GRCm39)	I468F	probably damaging	Het
Pmpcb	G	A	5: 21,961,441 (GRCm39)	R399H	probably damaging	Het
Polrmt	G	T	10: 79,572,421 (GRCm39)	H1145N	probably damaging	Het
Proser1	A	G	3: 53,371,727 (GRCm39)	D11G	probably damaging	Het
Ptprc	A	G	1: 138,022,037 (GRCm39)	S544P	probably damaging	Het
Ptprn2	G	A	12: 117,240,215 (GRCm39)	E991K	probably damaging	Het
Pwp2	A	C	10: 78,009,527 (GRCm39)	L797R	possibly damaging	Het
Rbm20	G	A	19: 53,840,100 (GRCm39)	A1030T	probably damaging	Het
Rdh7	T	C	10: 127,721,691 (GRCm39)	Y195C	probably benign	Het
Rev3l	T	A	10: 39,699,326 (GRCm39)	D1274E	probably benign	Het
Scfd2	G	T	5: 74,366,982 (GRCm39)	H639Q	probably benign	Het
Sell	T	A	1: 163,892,887 (GRCm39)	H34Q	possibly damaging	Het
Senp8	A	C	9: 59,644,504 (GRCm39)	D204E	probably benign	Het
Setd2	A	G	9: 110,377,226 (GRCm39)	D347G	probably benign	Het
Slc36a3	T	A	11: 55,039,399 (GRCm39)	K76N	probably damaging	Het
Slc6a9	A	T	4: 117,713,205 (GRCm39)	Y60F	probably damaging	Het
Slfn10-ps	C	T	11: 82,921,207 (GRCm39)		noncoding transcript	Het
Spata31d1d	G	A	13: 59,875,334 (GRCm39)	H734Y	probably benign	Het
Spmip10	G	T	18: 56,725,494 (GRCm39)	M46I	possibly damaging	Het
Spsb1	T	A	4: 149,991,612 (GRCm39)		probably benign	Het
Sptbn5	T	A	2: 119,882,258 (GRCm39)		noncoding transcript	Het
Sugp2	G	A	8: 70,712,462 (GRCm39)	V1026I	possibly damaging	Het
Syt14	T	A	1: 192,613,285 (GRCm39)		probably benign	Het
Sytl1	G	A	4: 132,982,893 (GRCm39)	Q373*	probably null	Het
Trim38	T	A	13: 23,975,312 (GRCm39)	L417Q	probably damaging	Het
Ttll1	T	C	15: 83,380,597 (GRCm39)	H256R	probably damaging	Het
Ttyh2	A	T	11: 114,587,583 (GRCm39)	T195S	probably benign	Het
Unc119b	A	G	5: 115,263,553 (GRCm39)	L217P	probably damaging	Het
Usp6nl	A	G	2: 6,425,714 (GRCm39)	K152E	probably benign	Het
Vcam1	T	C	3: 115,910,941 (GRCm39)	R486G	probably benign	Het
Vmn1r225	G	A	17: 20,722,831 (GRCm39)	G91S	possibly damaging	Het
Vmn2r1	A	C	3: 63,997,544 (GRCm39)	Q400P	possibly damaging	Het
Vmn2r87	A	T	10: 130,314,422 (GRCm39)	L388Q	probably damaging	Het
Wnk1	A	T	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp239	A	G	6: 117,847,478 (GRCm39)		probably benign	Het
Zfp688	T	C	7: 127,018,327 (GRCm39)	Y266C	probably damaging	Het
Zfp850	A	T	7: 27,689,658 (GRCm39)	C183*	probably null	Het
Zscan29	T	C	2: 120,999,676 (GRCm39)		probably null	Het

Other mutations in Sh2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02096:Sh2b1	APN	7	126,068,465 (GRCm39)	missense	probably damaging	0.99
IGL02320:Sh2b1	APN	7	126,068,341 (GRCm39)	missense	probably benign	0.02
IGL02589:Sh2b1	APN	7	126,068,440 (GRCm39)	missense	probably benign	0.19
IGL02668:Sh2b1	APN	7	126,071,646 (GRCm39)	missense	possibly damaging	0.62
IGL03189:Sh2b1	APN	7	126,067,702 (GRCm39)	missense	possibly damaging	0.61
R0130:Sh2b1	UTSW	7	126,070,620 (GRCm39)	missense	possibly damaging	0.95
R0532:Sh2b1	UTSW	7	126,071,444 (GRCm39)	missense	probably benign	0.00
R2081:Sh2b1	UTSW	7	126,071,862 (GRCm39)	missense	possibly damaging	0.62
R2109:Sh2b1	UTSW	7	126,071,536 (GRCm39)	missense	possibly damaging	0.74
R2409:Sh2b1	UTSW	7	126,070,651 (GRCm39)	missense	probably damaging	1.00
R2566:Sh2b1	UTSW	7	126,068,098 (GRCm39)	missense	probably damaging	0.99
R3752:Sh2b1	UTSW	7	126,067,959 (GRCm39)	missense	probably damaging	1.00
R4675:Sh2b1	UTSW	7	126,070,618 (GRCm39)	missense	possibly damaging	0.79
R5102:Sh2b1	UTSW	7	126,070,408 (GRCm39)	missense	probably benign
R5912:Sh2b1	UTSW	7	126,070,642 (GRCm39)	missense	probably damaging	1.00
R7368:Sh2b1	UTSW	7	126,067,685 (GRCm39)	missense	possibly damaging	0.59
R7694:Sh2b1	UTSW	7	126,066,929 (GRCm39)	missense	probably benign	0.03
R7801:Sh2b1	UTSW	7	126,070,464 (GRCm39)	missense	probably benign	0.15
R8005:Sh2b1	UTSW	7	126,068,479 (GRCm39)	missense	possibly damaging	0.82
R8353:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R8356:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R8453:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R8456:Sh2b1	UTSW	7	126,066,772 (GRCm39)	nonsense	probably null
R8456:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R8683:Sh2b1	UTSW	7	126,066,743 (GRCm39)	utr 3 prime	probably benign
R8906:Sh2b1	UTSW	7	126,070,292 (GRCm39)	critical splice donor site	probably null
R8921:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R8922:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9000:Sh2b1	UTSW	7	126,066,743 (GRCm39)	utr 3 prime	probably benign
R9000:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9269:Sh2b1	UTSW	7	126,068,354 (GRCm39)	missense	probably damaging	0.99
R9284:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9285:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9286:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9287:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9398:Sh2b1	UTSW	7	126,066,756 (GRCm39)	utr 3 prime	probably benign
R9398:Sh2b1	UTSW	7	126,066,746 (GRCm39)	utr 3 prime	probably benign
R9398:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126,066,750 (GRCm39)	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126,066,744 (GRCm39)	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126,066,762 (GRCm39)	utr 3 prime	probably benign
R9403:Sh2b1	UTSW	7	126,066,747 (GRCm39)	utr 3 prime	probably benign
R9403:Sh2b1	UTSW	7	126,066,745 (GRCm39)	nonsense	probably null
R9403:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9404:Sh2b1	UTSW	7	126,066,771 (GRCm39)	utr 3 prime	probably benign
R9404:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9467:Sh2b1	UTSW	7	126,066,754 (GRCm39)	nonsense	probably null
R9467:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
R9482:Sh2b1	UTSW	7	126,066,768 (GRCm39)	utr 3 prime	probably benign
R9495:Sh2b1	UTSW	7	126,066,744 (GRCm39)	utr 3 prime	probably benign
R9507:Sh2b1	UTSW	7	126,066,760 (GRCm39)	utr 3 prime	probably benign
R9514:Sh2b1	UTSW	7	126,066,765 (GRCm39)	utr 3 prime	probably benign
R9514:Sh2b1	UTSW	7	126,066,750 (GRCm39)	utr 3 prime	probably benign
R9514:Sh2b1	UTSW	7	126,066,770 (GRCm39)	utr 3 prime	probably benign
R9624:Sh2b1	UTSW	7	126,066,750 (GRCm39)	utr 3 prime	probably benign
R9624:Sh2b1	UTSW	7	126,066,744 (GRCm39)	utr 3 prime	probably benign
R9624:Sh2b1	UTSW	7	126,066,742 (GRCm39)	utr 3 prime	probably benign
Z1176:Sh2b1	UTSW	7	126,066,903 (GRCm39)	missense	probably benign	0.23
Z1177:Sh2b1	UTSW	7	126,070,295 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTAGTGACAAGCGCAGGTG -3'
(R):5'- TGTCTCAAGGGGAAAACTGG -3'

Sequencing Primer
(F):5'- CAAGCGCAGGTGCTGAG -3'
(R):5'- TAGGGAGAGGCCTCTGACAC -3'

Posted On

2016-04-27