Mutagenetix > Incidental Mutation

Incidental Mutation 'R8353:Sh2b1'

645611

Institutional Source

Beutler Lab

Gene Symbol

Sh2b1

Ensembl Gene

ENSMUSG00000030733

Gene Name

SH2B adaptor protein 1

Synonyms

Irip, SH2-Bb, SH2-B, Sh2bpsm1

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R8353 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

126466994-126475424 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

TGGGGACCAGCTCAGCCACGGGGACCAGCTC to TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC at 126467570 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032974] [ENSMUST00000032978] [ENSMUST00000205340] [ENSMUST00000205440] [ENSMUST00000205497] [ENSMUST00000205733] [ENSMUST00000205889] [ENSMUST00000206664]

AlphaFold

Q91ZM2

Predicted Effect

probably benign
Transcript: ENSMUST00000032974

SMART Domains

Protein: ENSMUSP00000032974
Gene: ENSMUSG00000030730

Domain	Start	End	E-Value	Type
Cation_ATPase_N	3	77	4.39e-16	SMART
Pfam:E1-E2_ATPase	92	340	1.5e-66	PFAM
Pfam:Hydrolase	345	715	7.5e-20	PFAM
Pfam:HAD	348	712	1.2e-18	PFAM
Pfam:Cation_ATPase	418	528	3.2e-23	PFAM
Pfam:Hydrolase_3	683	747	2.3e-7	PFAM
Pfam:Cation_ATPase_C	784	987	4.8e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032978

SMART Domains

Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733

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

Predicted Effect

probably benign
Transcript: ENSMUST00000205440

Predicted Effect

probably benign
Transcript: ENSMUST00000205497

Predicted Effect

probably benign
Transcript: ENSMUST00000205733

Predicted Effect

probably benign
Transcript: ENSMUST00000205889

Predicted Effect

probably benign
Transcript: ENSMUST00000206664

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	A	T	5: 90,566,501	R123S	possibly damaging	Het
8030462N17Rik	T	C	18: 77,673,908	E236G	probably damaging	Het
9630041A04Rik	G	T	9: 101,938,685	C23F	possibly damaging	Het
Adam29	T	C	8: 55,873,161	H86R	possibly damaging	Het
Alas1	C	T	9: 106,236,522	R508Q	possibly damaging	Het
Bmp3	G	A	5: 98,855,423		probably null	Het
Bud13	A	G	9: 46,288,201	T287A	probably benign	Het
C3	T	C	17: 57,212,643	E1203G	probably benign	Het
Carmil2	A	C	8: 105,690,211	Q476P	probably damaging	Het
Ccdc187	T	A	2: 26,276,446	T707S	probably damaging	Het
Cfap43	A	T	19: 47,746,647	V1435E	probably damaging	Het
Chrm3	A	T	13: 9,877,231	*590K	probably null	Het
Commd1	C	T	11: 22,978,503		probably benign	Het
Creb3l1	A	T	2: 91,990,929	Y314*	probably null	Het
Ctc1	T	A	11: 69,022,449	S90R	probably benign	Het
Dixdc1	T	C	9: 50,684,886	Q413R	probably benign	Het
Dlg5	T	C	14: 24,158,145	T998A	probably benign	Het
Fam89b	A	G	19: 5,728,875	S99P	possibly damaging	Het
Fbxo30	A	G	10: 11,290,735	I400M	probably benign	Het
Gad1	A	T	2: 70,600,713	M567L	probably benign	Het
Gemin5	T	C	11: 58,125,239	S1314G	probably benign	Het
Gm2035	C	T	12: 87,919,553	S102N	probably benign	Het
Gm9195	T	G	14: 72,440,761	I2323L	probably benign	Het
Gria1	T	A	11: 57,243,051	F585L	probably damaging	Het
Hbs1l	A	T	10: 21,309,279	H200L	probably benign	Het
Igsf5	A	G	16: 96,421,796	Q360R	probably benign	Het
Il31ra	A	T	13: 112,524,183	V624E	probably damaging	Het
Iqsec3	T	C	6: 121,387,820	R837G	probably damaging	Het
Lpl	A	G	8: 68,895,781	I221V	probably damaging	Het
Mink1	T	A	11: 70,610,328	D887E	possibly damaging	Het
Mmp10	T	G	9: 7,508,202	F443C	probably damaging	Het
Mmrn1	T	A	6: 60,988,377	Y1131N	probably damaging	Het
Mrc2	T	A	11: 105,332,311	V460E	probably damaging	Het
Nicn1	T	A	9: 108,293,373	F57Y	probably damaging	Het
Nlrp4b	A	G	7: 10,715,601	Y577C	probably damaging	Het
Nrap	T	C	19: 56,323,920	T1535A	probably damaging	Het
Opa1	G	A	16: 29,620,868	R755H	probably damaging	Het
Phldb2	A	G	16: 45,825,022	S354P	probably benign	Het
Phykpl	T	C	11: 51,598,294	S316P	probably damaging	Het
Pnpla1	T	A	17: 28,858,899	D11E	probably benign	Het
Pold2	A	G	11: 5,875,104	F98L	probably damaging	Het
Prph	G	A	15: 99,056,776	R241Q	probably benign	Het
Rcl1	T	C	19: 29,115,759	I58T	possibly damaging	Het
Rps6ka2	A	G	17: 7,246,752	N117D	probably benign	Het
Sars	G	A	3: 108,428,713	S331L	probably benign	Het
Scfd1	A	C	12: 51,412,591	K312Q	possibly damaging	Het
Senp5	A	G	16: 31,989,348	C363R	probably benign	Het
Senp7	A	G	16: 56,188,328	I1024V	probably damaging	Het
Sptbn4	A	G	7: 27,404,238	L1191P	probably damaging	Het
Ssfa2	T	C	2: 79,644,785	S363P	probably benign	Het
Stk40	A	G	4: 126,128,973	E180G	probably damaging	Het
Stxbp5	A	T	10: 9,809,048	V536E	probably benign	Het
Tex15	G	T	8: 33,576,871	E2110*	probably null	Het
Thbs4	G	A	13: 92,790,817	P55S	probably benign	Het
Tmem115	T	C	9: 107,534,798	V107A	probably benign	Het
Tnfaip6	A	C	2: 52,055,867	I242L	probably benign	Het
Trabd	G	T	15: 89,085,413	A270S	possibly damaging	Het
Trim30d	T	A	7: 104,487,740	I86F	probably damaging	Het
Trpc7	A	G	13: 56,822,559	V404A	probably benign	Het
Vmn1r61	A	G	7: 5,610,887	Y143H	probably benign	Het
Vmn2r18	T	A	5: 151,561,908	D707V	probably damaging	Het
Vnn3	G	A	10: 23,869,545	R464H	probably benign	Het
Wdr27	T	C	17: 14,892,489	T652A	probably benign	Het
Wdr78	A	G	4: 103,059,916	I577T	possibly damaging	Het
Yeats2	C	T	16: 20,222,887	R1176*	probably null	Het

Other mutations in Sh2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02096:Sh2b1	APN	7	126469293	missense	probably damaging	0.99
IGL02320:Sh2b1	APN	7	126469169	missense	probably benign	0.02
IGL02589:Sh2b1	APN	7	126469268	missense	probably benign	0.19
IGL02668:Sh2b1	APN	7	126472474	missense	possibly damaging	0.62
IGL03189:Sh2b1	APN	7	126468530	missense	possibly damaging	0.61
R0130:Sh2b1	UTSW	7	126471448	missense	possibly damaging	0.95
R0532:Sh2b1	UTSW	7	126472272	missense	probably benign	0.00
R2081:Sh2b1	UTSW	7	126472690	missense	possibly damaging	0.62
R2109:Sh2b1	UTSW	7	126472364	missense	possibly damaging	0.74
R2409:Sh2b1	UTSW	7	126471479	missense	probably damaging	1.00
R2566:Sh2b1	UTSW	7	126468926	missense	probably damaging	0.99
R3752:Sh2b1	UTSW	7	126468787	missense	probably damaging	1.00
R4675:Sh2b1	UTSW	7	126471446	missense	possibly damaging	0.79
R4970:Sh2b1	UTSW	7	126468803	missense	probably damaging	1.00
R5102:Sh2b1	UTSW	7	126471236	missense	probably benign
R5912:Sh2b1	UTSW	7	126471470	missense	probably damaging	1.00
R7368:Sh2b1	UTSW	7	126468513	missense	possibly damaging	0.59
R7694:Sh2b1	UTSW	7	126467757	missense	probably benign	0.03
R7801:Sh2b1	UTSW	7	126471292	missense	probably benign	0.15
R8005:Sh2b1	UTSW	7	126469307	missense	possibly damaging	0.82
R8356:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R8453:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R8456:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R8456:Sh2b1	UTSW	7	126467600	nonsense	probably null
R8683:Sh2b1	UTSW	7	126467571	utr 3 prime	probably benign
R8906:Sh2b1	UTSW	7	126471120	critical splice donor site	probably null
R8921:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R8922:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9000:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9000:Sh2b1	UTSW	7	126467571	utr 3 prime	probably benign
R9269:Sh2b1	UTSW	7	126469182	missense	probably damaging	0.99
R9284:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9285:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9286:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9287:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9398:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9398:Sh2b1	UTSW	7	126467574	utr 3 prime	probably benign
R9398:Sh2b1	UTSW	7	126467584	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126467572	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126467578	utr 3 prime	probably benign
R9399:Sh2b1	UTSW	7	126467590	utr 3 prime	probably benign
R9403:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9403:Sh2b1	UTSW	7	126467573	nonsense	probably null
R9403:Sh2b1	UTSW	7	126467575	utr 3 prime	probably benign
R9404:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9404:Sh2b1	UTSW	7	126467599	utr 3 prime	probably benign
R9467:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9467:Sh2b1	UTSW	7	126467582	nonsense	probably null
R9482:Sh2b1	UTSW	7	126467596	utr 3 prime	probably benign
R9495:Sh2b1	UTSW	7	126467572	utr 3 prime	probably benign
R9507:Sh2b1	UTSW	7	126467588	utr 3 prime	probably benign
R9514:Sh2b1	UTSW	7	126467578	utr 3 prime	probably benign
R9514:Sh2b1	UTSW	7	126467593	utr 3 prime	probably benign
R9514:Sh2b1	UTSW	7	126467598	utr 3 prime	probably benign
R9624:Sh2b1	UTSW	7	126467570	utr 3 prime	probably benign
R9624:Sh2b1	UTSW	7	126467572	utr 3 prime	probably benign
R9624:Sh2b1	UTSW	7	126467578	utr 3 prime	probably benign
Z1176:Sh2b1	UTSW	7	126467731	missense	probably benign	0.23
Z1177:Sh2b1	UTSW	7	126471123	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAGGTATCTCACACAAATGAG -3'
(R):5'- TCCACAAGCAATGTCTTCTCAC -3'

Sequencing Primer
(F):5'- CAGGTATCTCACACAAATGAGTACTG -3'
(R):5'- ACAAGCAATGTCTTCTCACCATTC -3'

Posted On

2020-09-02