Mutagenetix > Incidental Mutation

Incidental Mutation 'R0532:Sh2b1'

49248

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

038724-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

R0532 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

126066166-126074596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126071444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 247 (I247T)

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

probably benign
Transcript: ENSMUST00000032978
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: I247T

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 benign
Transcript: ENSMUST00000205340
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000205440
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000205497
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000205733
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000205889
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206515

Predicted Effect

probably benign
Transcript: ENSMUST00000206664
AA Change: I247T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000206643

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

100% (90/90)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	A	T	18: 6,638,618 (GRCm39)	E339V	possibly damaging	Het
9230009I02Rik	A	T	11: 50,982,405 (GRCm39)		noncoding transcript	Het
9230112D13Rik	A	T	14: 34,234,054 (GRCm39)	I79K	unknown	Het
Adam25	C	T	8: 41,208,987 (GRCm39)	T751I	probably benign	Het
Adgrv1	C	A	13: 81,727,015 (GRCm39)	V446L	probably damaging	Het
Afap1	C	A	5: 36,125,944 (GRCm39)	A313D	possibly damaging	Het
Akap6	A	G	12: 52,934,766 (GRCm39)	T753A	probably benign	Het
Aldh16a1	G	T	7: 44,792,262 (GRCm39)	T730N	probably damaging	Het
Amfr	A	T	8: 94,725,736 (GRCm39)	M215K	probably damaging	Het
Apob	A	G	12: 8,066,188 (GRCm39)	R4386G	possibly damaging	Het
Arhgap45	A	T	10: 79,857,917 (GRCm39)	M217L	possibly damaging	Het
Baiap2l2	C	T	15: 79,168,276 (GRCm39)	E49K	possibly damaging	Het
Baz1a	C	T	12: 54,981,605 (GRCm39)	E350K	possibly damaging	Het
Bbx	A	T	16: 50,086,647 (GRCm39)	V83D	probably damaging	Het
Btaf1	T	C	19: 36,928,586 (GRCm39)		probably benign	Het
Cacna2d1	G	A	5: 16,567,271 (GRCm39)	E942K	probably benign	Het
Cad	T	C	5: 31,219,531 (GRCm39)		probably benign	Het
Ccdc96	A	G	5: 36,643,710 (GRCm39)	K572R	probably benign	Het
Cdc5l	G	A	17: 45,726,610 (GRCm39)	R321W	probably damaging	Het
Cep164	G	A	9: 45,721,124 (GRCm39)	R93*	probably null	Het
Cir1	A	G	2: 73,140,799 (GRCm39)		probably null	Het
Crocc	A	G	4: 140,757,558 (GRCm39)	S912P	possibly damaging	Het
Cwf19l2	T	C	9: 3,431,057 (GRCm39)	L463P	probably benign	Het
Cyp3a59	C	T	5: 146,033,463 (GRCm39)	Q200*	probably null	Het
Cyp4b1	G	T	4: 115,484,073 (GRCm39)	P303T	probably damaging	Het
Dcbld1	C	A	10: 52,193,173 (GRCm39)	T306K	probably benign	Het
Dgat2	A	G	7: 98,818,988 (GRCm39)	V56A	possibly damaging	Het
Dnajc16	A	C	4: 141,516,320 (GRCm39)	L16R	probably damaging	Het
Dnmt1	A	C	9: 20,829,852 (GRCm39)		probably benign	Het
Dus3l	A	G	17: 57,076,308 (GRCm39)	I528V	probably damaging	Het
Egflam	T	C	15: 7,263,718 (GRCm39)	D744G	probably benign	Het
Epb41	A	C	4: 131,706,106 (GRCm39)		probably benign	Het
Eri2	C	T	7: 119,385,206 (GRCm39)	V432I	probably benign	Het
Esyt2	A	G	12: 116,320,818 (GRCm39)		probably benign	Het
Extl3	A	T	14: 65,315,122 (GRCm39)	M20K	probably benign	Het
Fam32a	A	G	8: 72,976,063 (GRCm39)	Y103C	probably damaging	Het
Fat4	T	C	3: 39,035,870 (GRCm39)	V3174A	probably benign	Het
Fbxo40	T	A	16: 36,789,984 (GRCm39)	E375D	possibly damaging	Het
Frrs1	A	G	3: 116,676,813 (GRCm39)	T182A	probably benign	Het
Fry	A	G	5: 150,357,172 (GRCm39)		probably benign	Het
Fry	T	C	5: 150,402,226 (GRCm39)		probably benign	Het
Fsip2	A	G	2: 82,808,129 (GRCm39)	I1483V	probably benign	Het
Glra3	T	A	8: 56,578,111 (GRCm39)	D389E	probably benign	Het
Gpr3	A	T	4: 132,937,796 (GRCm39)	I292N	probably damaging	Het
Grina	T	C	15: 76,133,045 (GRCm39)	M230T	probably damaging	Het
Igkv11-125	G	A	6: 67,890,603 (GRCm39)	W16*	probably null	Het
Il18r1	T	C	1: 40,514,061 (GRCm39)	V89A	probably damaging	Het
Ino80	T	C	2: 119,212,464 (GRCm39)	E1286G	possibly damaging	Het
Iqch	G	A	9: 63,415,514 (GRCm39)		probably benign	Het
Itpr2	G	T	6: 146,013,898 (GRCm39)	Q2666K	probably damaging	Het
Kcnh3	A	G	15: 99,130,844 (GRCm39)	D487G	probably damaging	Het
Kdm1a	A	G	4: 136,288,377 (GRCm39)	L402P	probably damaging	Het
Klhl10	T	G	11: 100,337,937 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,405,617 (GRCm39)	T428A	possibly damaging	Het
Mapk3	G	A	7: 126,362,558 (GRCm39)		probably benign	Het
Med13l	T	A	5: 118,897,188 (GRCm39)	S2089T	possibly damaging	Het
Mex3c	G	A	18: 73,723,124 (GRCm39)	D406N	possibly damaging	Het
Mki67	G	A	7: 135,299,893 (GRCm39)	R1714*	probably null	Het
Mmp9	C	A	2: 164,791,740 (GRCm39)	S211*	probably null	Het
Nat8f2	G	T	6: 85,844,784 (GRCm39)	Q193K	probably benign	Het
Omt2a	C	A	9: 78,220,187 (GRCm39)	A71S	possibly damaging	Het
Or10ak11	T	G	4: 118,686,897 (GRCm39)	T247P	probably damaging	Het
Or5ac22	T	C	16: 59,134,964 (GRCm39)	K269E	probably benign	Het
Pdgfra	G	A	5: 75,331,434 (GRCm39)	V315I	probably benign	Het
Pdgfrb	A	G	18: 61,216,337 (GRCm39)	D1065G	probably damaging	Het
Pfas	A	T	11: 68,893,455 (GRCm39)		probably benign	Het
Pramel5	T	C	4: 143,999,310 (GRCm39)	E259G	probably benign	Het
Prpf6	A	G	2: 181,264,004 (GRCm39)	Y222C	possibly damaging	Het
Rbck1	C	A	2: 152,166,250 (GRCm39)	Q229H	probably damaging	Het
Rdm1	T	A	11: 101,526,661 (GRCm39)	C278S	probably benign	Het
Sall1	T	C	8: 89,759,819 (GRCm39)	D95G	probably benign	Het
Scn1a	T	A	2: 66,148,167 (GRCm39)	D1126V	probably damaging	Het
Scn4a	C	T	11: 106,221,226 (GRCm39)	G811D	probably benign	Het
Shprh	C	A	10: 11,038,556 (GRCm39)	T437K	possibly damaging	Het
Slc13a4	A	T	6: 35,264,339 (GRCm39)		probably null	Het
Slc16a1	C	A	3: 104,560,734 (GRCm39)	Y346*	probably null	Het
Slc25a38	G	T	9: 119,949,772 (GRCm39)	A163S	probably damaging	Het
Slc6a12	G	A	6: 121,333,877 (GRCm39)	V238I	probably damaging	Het
Slc8b1	C	A	5: 120,657,736 (GRCm39)	D66E	probably damaging	Het
Snapin	A	G	3: 90,396,893 (GRCm39)	L106P	probably damaging	Het
Tas2r122	G	A	6: 132,688,791 (GRCm39)	S34F	possibly damaging	Het
Tiam2	A	G	17: 3,471,921 (GRCm39)	K521R	probably damaging	Het
Tmem81	C	G	1: 132,435,567 (GRCm39)	I124M	probably damaging	Het
Ttc3	T	C	16: 94,188,189 (GRCm39)		probably benign	Het
Uba1y	T	C	Y: 820,911 (GRCm39)	F31L	probably benign	Het
Ucp3	A	G	7: 100,131,186 (GRCm39)		probably benign	Het
Vcan	T	C	13: 89,851,891 (GRCm39)	E1023G	probably damaging	Het
Vmn2r45	A	G	7: 8,474,820 (GRCm39)	I736T	probably damaging	Het
Vps36	T	C	8: 22,708,261 (GRCm39)	F342L	probably benign	Het
Zc3hc1	A	G	6: 30,374,929 (GRCm39)		probably benign	Het
Zmym4	G	A	4: 126,792,194 (GRCm39)	Q596*	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
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
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	126,066,770 (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
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'- GGTGGTACAAAGAACTCCAAGCGAC -3'
(R):5'- TTCTCGATCTTCTGAGGACCTGGC -3'

Sequencing Primer
(F):5'- GAACTCCAAGCGACTTCCTC -3'
(R):5'- AGGCTCTGTTCGAGGCATC -3'

Posted On

2013-06-12