Mutagenetix > Incidental Mutation

Incidental Mutation 'R9514:Sh2b1'

718377

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

Accession Numbers

Essential gene?

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

Stock #

R9514 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

126066166-126074596 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

AGCTCAGCCACGGGGACC to AGCTCAGCCACGGGGACCCGCTCAGCCACGGGGACC at 126066750 bp (GRCm39)

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,312,533 (GRCm39)	S4P	probably benign	Het
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Acsl6	A	G	11: 54,225,880 (GRCm39)	N307D	probably benign	Het
Atxn1	A	G	13: 45,721,433 (GRCm39)	V154A	probably benign	Het
Bltp3a	A	G	17: 28,112,414 (GRCm39)	D1201G	probably damaging	Het
Cacna2d4	T	C	6: 119,213,611 (GRCm39)	L10S	probably benign	Het
Cd33	A	T	7: 43,182,150 (GRCm39)	H98Q	probably benign	Het
Cebpz	A	T	17: 79,239,684 (GRCm39)	M579K	probably benign	Het
Cenpk	T	G	13: 104,370,682 (GRCm39)	C103G	probably benign	Het
Cep97	T	A	16: 55,726,093 (GRCm39)	Q670L	probably benign	Het
Cfap65	C	T	1: 74,945,468 (GRCm39)		probably null	Het
Cir1	A	G	2: 73,142,781 (GRCm39)	S18P	probably damaging	Het
Coprs	T	C	8: 13,935,081 (GRCm39)	Y158C	probably damaging	Het
Creld1	T	C	6: 113,469,765 (GRCm39)	F389S	probably damaging	Het
Dimt1	T	C	13: 107,093,636 (GRCm39)	I276T	possibly damaging	Het
Dok1	T	C	6: 83,009,972 (GRCm39)	K46E	probably damaging	Het
Dsp	T	A	13: 38,371,781 (GRCm39)	C911S	probably benign	Het
Egr3	A	G	14: 70,314,978 (GRCm39)	I29V	probably benign	Het
Fam186a	A	G	15: 99,844,766 (GRCm39)	S493P	unknown	Het
Fam83a	G	A	15: 57,849,765 (GRCm39)	G103D	possibly damaging	Het
Fat2	T	A	11: 55,175,808 (GRCm39)	Q1635L	probably damaging	Het
Figla	A	C	6: 85,997,689 (GRCm39)	H139P	probably benign	Het
Fryl	T	C	5: 73,262,115 (GRCm39)	K551E	probably damaging	Het
Galr2	A	G	11: 116,174,452 (GRCm39)	T361A	probably benign	Het
Gart	A	T	16: 91,427,596 (GRCm39)	S467R	probably benign	Het
Ggps1	T	C	13: 14,229,742 (GRCm39)	K45R	probably benign	Het
Ghsr	G	C	3: 27,426,630 (GRCm39)	V229L	possibly damaging	Het
H2ac21	A	G	3: 96,127,401 (GRCm39)	E57G	probably damaging	Het
Hectd2	A	T	19: 36,582,689 (GRCm39)	H473L	possibly damaging	Het
Hic2	T	C	16: 17,076,293 (GRCm39)	V374A	possibly damaging	Het
Hivep2	T	A	10: 14,005,523 (GRCm39)	I707N	probably benign	Het
Il17rc	T	C	6: 113,449,741 (GRCm39)	S116P	probably damaging	Het
Krt34	A	T	11: 99,929,226 (GRCm39)	I328N	probably damaging	Het
Krt79	G	A	15: 101,840,288 (GRCm39)	R303C	probably damaging	Het
Lama2	T	C	10: 27,100,015 (GRCm39)	E830G	probably benign	Het
Lamb2	C	T	9: 108,358,006 (GRCm39)	T149I	probably damaging	Het
Mau2	T	C	8: 70,480,153 (GRCm39)	Y318C	probably damaging	Het
Mier2	T	C	10: 79,377,496 (GRCm39)	S486G	probably benign	Het
Mllt10	A	G	2: 18,164,322 (GRCm39)	D284G	probably damaging	Het
Nbea	A	T	3: 55,937,366 (GRCm39)	S748R	probably damaging	Het
Ncoa6	A	G	2: 155,248,133 (GRCm39)	S1724P	probably benign	Het
Nipal4	T	A	11: 46,052,922 (GRCm39)		probably null	Het
Nlrc4	G	C	17: 74,753,736 (GRCm39)	L216V	probably benign	Het
Ogfr	A	G	2: 180,235,417 (GRCm39)	M164V	possibly damaging	Het
Or1o4	G	T	17: 37,591,386 (GRCm39)		probably benign	Het
Or4b12	G	A	2: 90,096,709 (GRCm39)	Q22*	probably null	Het
Pcdha12	G	T	18: 37,155,526 (GRCm39)	W748C	probably damaging	Het
Pkd1l3	T	C	8: 110,395,849 (GRCm39)	V2083A	probably damaging	Het
Plin3	C	A	17: 56,587,824 (GRCm39)	G297V	probably benign	Het
Prex1	C	T	2: 166,419,896 (GRCm39)	R1260Q	possibly damaging	Het
Prpf38b	A	G	3: 108,818,619 (GRCm39)	V47A	probably benign	Het
Ptch1	T	C	13: 63,675,071 (GRCm39)	T851A	probably benign	Het
Ptk7	T	A	17: 46,887,744 (GRCm39)	I563F	possibly damaging	Het
Ptprm	A	G	17: 67,116,466 (GRCm39)	Y938H	probably damaging	Het
R3hcc1l	G	A	19: 42,507,203 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,443,684 (GRCm39)	V89A	probably benign	Het
Slain1	T	A	14: 103,932,748 (GRCm39)	V444E	probably damaging	Het
Slc10a5	T	A	3: 10,400,532 (GRCm39)	I43F	possibly damaging	Het
Smarca2	T	C	19: 26,659,452 (GRCm39)	F914S	possibly damaging	Het
Smarca5	A	C	8: 81,428,840 (GRCm39)	L1003V	probably damaging	Het
Spata18	A	T	5: 73,829,840 (GRCm39)	I332F		Het
Spata31d1e	A	G	13: 59,890,806 (GRCm39)	V338A	probably damaging	Het
Stard9	C	G	2: 120,534,564 (GRCm39)	P3607R	probably damaging	Het
Tbx19	A	G	1: 164,966,546 (GRCm39)	S443P	unknown	Het
Tktl2	C	G	8: 66,965,840 (GRCm39)	A466G	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem129	A	G	5: 33,815,122 (GRCm39)	V17A	probably benign	Het
Tom1l2	T	C	11: 60,153,486 (GRCm39)	T164A	probably damaging	Het
Tor1aip1	T	A	1: 155,906,177 (GRCm39)	D205V	probably damaging	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Trim11	G	T	11: 58,878,477 (GRCm39)	A251S	unknown	Het
Trim33	T	C	3: 103,239,074 (GRCm39)	V684A	probably benign	Het
Triobp	C	T	15: 78,877,378 (GRCm39)	R1637C	probably damaging	Het
Trpm3	A	G	19: 22,960,040 (GRCm39)	N1225S	probably benign	Het
Usp21	T	C	1: 171,112,503 (GRCm39)	Y300C	probably damaging	Het
Usp32	T	C	11: 84,913,560 (GRCm39)	T924A	probably damaging	Het
Vmn1r198	A	T	13: 22,539,015 (GRCm39)	H167L	possibly damaging	Het
Vmn2r23	A	G	6: 123,689,672 (GRCm39)	T183A	probably benign	Het
Zc3h8	T	C	2: 128,773,223 (GRCm39)	Y213C	probably damaging	Het
Zcchc17	A	T	4: 130,232,337 (GRCm39)	D55E	probably benign	Het
Zfp408	A	T	2: 91,478,368 (GRCm39)	W26R	probably damaging	Het
Zfp937	G	T	2: 150,080,890 (GRCm39)	A307S	possibly damaging	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
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
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'- GGCAGGTATCTCACACAAATGAG -3'
(R):5'- TCCACAAGCAATGTCTTCTCAC -3'

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

Posted On

2022-07-18