Mutagenetix > Incidental Mutation

Incidental Mutation 'R4675:Sh2b1'

349493

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

041930-MU

Accession Numbers

Essential gene?

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

Stock #

R4675 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126066166-126074596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126070618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 361 (A361V)

Ref Sequence

ENSEMBL: ENSMUSP00000146121 (fasta)

Gene Model

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

AlphaFold

Q91ZM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032978
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: A361V

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

possibly damaging
Transcript: ENSMUST00000205340
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205440
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205497
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205733
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205889
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206515

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206664
AA Change: A361V

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000206643

Meta Mutation Damage Score

0.1395

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (89/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	A	17: 36,203,820 (GRCm39)	K291N	probably damaging	Het
Adgra1	A	G	7: 139,456,102 (GRCm39)	T577A	probably damaging	Het
Akip1	T	A	7: 109,308,188 (GRCm39)	I152N	possibly damaging	Het
Armc9	A	G	1: 86,130,240 (GRCm39)	Y8C	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Atp2a3	A	T	11: 72,872,623 (GRCm39)	T724S	probably damaging	Het
Bmp1	C	A	14: 70,730,284 (GRCm39)	R416L	probably damaging	Het
Bmt2	G	T	6: 13,663,300 (GRCm39)	A66E	probably benign	Het
Bscl2	A	T	19: 8,825,523 (GRCm39)	D403V	possibly damaging	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Cdhr18	A	T	14: 13,856,724 (GRCm38)	D462E	probably benign	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Cntnap4	A	G	8: 113,512,468 (GRCm39)	Y610C	probably damaging	Het
Col11a2	T	C	17: 34,283,267 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,651,497 (GRCm39)		probably null	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Dgkz	T	A	2: 91,768,691 (GRCm39)	K697*	probably null	Het
Dnah7b	T	A	1: 46,256,317 (GRCm39)	D1873E	possibly damaging	Het
Dst	G	A	1: 34,314,784 (GRCm39)	E6472K	possibly damaging	Het
Duox2	T	C	2: 122,111,414 (GRCm39)	D1428G	probably damaging	Het
Elmod2	T	C	8: 84,043,537 (GRCm39)	N210S	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
F13b	A	G	1: 139,429,542 (GRCm39)	Y20C	unknown	Het
Fbn2	T	A	18: 58,173,265 (GRCm39)	N2051I	possibly damaging	Het
Gabrg2	G	A	11: 41,859,650 (GRCm39)	H201Y	probably damaging	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gjd4	A	G	18: 9,280,578 (GRCm39)	S167P	probably damaging	Het
Heatr5a	T	C	12: 51,924,130 (GRCm39)	N2028D	probably benign	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Herc1	T	C	9: 66,298,740 (GRCm39)	S625P	probably damaging	Het
Ighv1-55	T	C	12: 115,172,175 (GRCm39)		probably benign	Het
Ighv5-8	G	A	12: 113,618,777 (GRCm39)	S64N	probably benign	Het
Itga1	G	T	13: 115,138,227 (GRCm39)		probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Ksr1	G	A	11: 78,965,186 (GRCm39)	P118S	possibly damaging	Het
Lat2	T	C	5: 134,634,911 (GRCm39)	N100S	probably damaging	Het
Lrit3	T	A	3: 129,582,121 (GRCm39)	D501V	probably damaging	Het
Lrrfip1	T	A	1: 91,031,042 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Med21	T	A	6: 146,551,691 (GRCm39)	L114H	probably damaging	Het
Mfap4	A	T	11: 61,376,336 (GRCm39)		probably benign	Het
Mpdz	G	A	4: 81,302,049 (GRCm39)	R233W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Neto2	T	G	8: 86,396,333 (GRCm39)	H104P	probably damaging	Het
Nr1h2	T	C	7: 44,201,979 (GRCm39)	T36A	possibly damaging	Het
Nudt16l2	T	C	9: 105,021,647 (GRCm39)	D133G	probably benign	Het
Or13a20	A	T	7: 140,232,074 (GRCm39)	M61L	probably damaging	Het
Or4a79	T	C	2: 89,551,838 (GRCm39)	I206V	probably benign	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or51g2	A	G	7: 102,623,013 (GRCm39)	M62T	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5p52	A	G	7: 107,502,567 (GRCm39)	I214M	probably damaging	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Or8b4	T	C	9: 37,830,882 (GRCm39)	*310R	probably null	Het
Pcbp3	A	G	10: 76,606,869 (GRCm39)	L241S	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Podxl	G	A	6: 31,503,579 (GRCm39)	T254M	possibly damaging	Het
Prr27	A	C	5: 87,991,100 (GRCm39)	E237D	possibly damaging	Het
Rdh16	G	T	10: 127,637,316 (GRCm39)	V84F	probably damaging	Het
Rnf26	A	T	9: 44,023,428 (GRCm39)	D273E	probably benign	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rpl3l	A	G	17: 24,952,584 (GRCm39)	K239E	probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Ryk	A	G	9: 102,768,415 (GRCm39)	D352G	possibly damaging	Het
Setd1b	T	A	5: 123,299,061 (GRCm39)		probably benign	Het
Slc35f3	A	T	8: 127,047,935 (GRCm39)	K92*	probably null	Het
Slc39a10	A	G	1: 46,857,144 (GRCm39)		probably benign	Het
Slc47a1	G	A	11: 61,253,857 (GRCm39)	T194I	probably benign	Het
Slc6a3	C	A	13: 73,692,936 (GRCm39)	N185K	probably damaging	Het
Stag1	T	C	9: 100,730,758 (GRCm39)	V391A	probably damaging	Het
Syne2	A	C	12: 75,996,075 (GRCm39)	N2206T	probably damaging	Het
Tbc1d23	C	A	16: 57,003,325 (GRCm39)	R481I	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tfam	A	G	10: 71,069,225 (GRCm39)	S166P	probably benign	Het
Tmem63a	A	G	1: 180,784,056 (GRCm39)	H212R	probably benign	Het
Txndc11	T	A	16: 10,902,745 (GRCm39)	Q634L	possibly damaging	Het
Usp31	T	C	7: 121,306,548 (GRCm39)		probably benign	Het
Vmn1r204	A	T	13: 22,740,962 (GRCm39)	M198L	probably damaging	Het
Vmn2r17	A	T	5: 109,575,049 (GRCm39)	T119S	probably benign	Het
Vsig1	A	G	X: 139,833,861 (GRCm39)	D227G	probably damaging	Het
Zfhx2	G	A	14: 55,304,678 (GRCm39)	P1102L	probably benign	Het
Zfp715	T	C	7: 42,949,444 (GRCm39)	Q172R	probably benign	Het
Zfp872	A	G	9: 22,108,701 (GRCm39)	D53G	probably damaging	Het
Zswim8	G	A	14: 20,764,681 (GRCm39)	D684N	probably benign	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
R4970:Sh2b1	UTSW	7	126,067,975 (GRCm39)	missense	probably damaging	1.00
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'- CCAGGCTGTCTGTGTTATCC -3'
(R):5'- CAGCAGCAGGATGAGTATATGTC -3'

Sequencing Primer
(F):5'- CCTTTGTGAAGAAGGAGGTCCC -3'
(R):5'- CAGGATGAGTATATGTCGGGGGC -3'

Posted On

2015-10-08