Mutagenetix > Incidental Mutation

Incidental Mutation 'R4822:Sh2b3'

472632

Institutional Source

Beutler Lab

Gene Symbol

Sh2b3

Ensembl Gene

ENSMUSG00000042594

Gene Name

SH2B adaptor protein 3

Synonyms

Lnk

MMRRC Submission

042438-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.532) question?

Stock #

R4822 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

121953551-121975709 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 121966618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040308] [ENSMUST00000086310] [ENSMUST00000118580] [ENSMUST00000122426] [ENSMUST00000136960] [ENSMUST00000137682] [ENSMUST00000197892]

AlphaFold

O09039

Predicted Effect

silent
Transcript: ENSMUST00000040308

SMART Domains

Protein: ENSMUSP00000041611
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	23	76	1.1e-20	PFAM
low complexity region	114	128	N/A	INTRINSIC
PH	168	281	1.2e-2	SMART
SH2	334	419	3.53e-19	SMART
low complexity region	512	525	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000086310

SMART Domains

Protein: ENSMUSP00000083490
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	22	77	2e-22	PFAM
low complexity region	114	128	N/A	INTRINSIC
PH	168	281	1.2e-2	SMART
SH2	334	419	3.53e-19	SMART
low complexity region	512	525	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000118580

SMART Domains

Protein: ENSMUSP00000113808
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	22	77	4.1e-23	PFAM
low complexity region	114	128	N/A	INTRINSIC
PH	168	281	1.2e-2	SMART
SH2	324	409	3.53e-19	SMART
low complexity region	502	515	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000122426

SMART Domains

Protein: ENSMUSP00000113926
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	22	77	2e-22	PFAM
low complexity region	114	128	N/A	INTRINSIC
PH	168	281	1.2e-2	SMART
SH2	334	419	3.53e-19	SMART
low complexity region	512	525	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000136960

SMART Domains

Protein: ENSMUSP00000119086
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	22	77	2.4e-23	PFAM
low complexity region	114	128	N/A	INTRINSIC
PH	168	281	1.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137682

SMART Domains

Protein: ENSMUSP00000118523
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	22	77	2e-23	PFAM
low complexity region	114	128	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000197892

SMART Domains

Protein: ENSMUSP00000142666
Gene: ENSMUSG00000042594

Domain	Start	End	E-Value	Type
low complexity region	12	21	N/A	INTRINSIC
Pfam:Phe_ZIP	22	77	6.3e-20	PFAM
low complexity region	114	128	N/A	INTRINSIC
Blast:PH	168	250	3e-53	BLAST
PDB:1V5M\|A	171	250	1e-12	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000198161
AA Change: R62L

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (101/103)

MGI Phenotype

FUNCTION: This gene encodes a member of the SH2B family of adapter proteins that play an important role in T cell receptor signaling. This gene is preferentially expressed in hematopoietic stem cells, hematopoietic progenitors, pre and immature B cells, as well as megakaryocytes and mastocytes. In hematopoietic stem cells, the encoded protein is a key regulator of self-renewal, proliferation and apoptosis. Mice lacking the encoded protein exhibit pre and immature B cell expansion in spleen and the bone marrow. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe perturbations in hematopoiesis, splenomegaly, and abnormal lymphoid and myeloid homeostasis. Mice homozygous for a different knock-out allele display altered mobility of hematopoietic stem/progenitor cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	C	T	14: 70,393,907 (GRCm39)	V243I	probably benign	Het
Acadvl	C	T	11: 69,902,010 (GRCm39)	G485S	probably benign	Het
Acap3	T	A	4: 155,986,908 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,023,356 (GRCm39)	I250M	probably damaging	Het
Amacr	T	A	15: 10,983,496 (GRCm39)	I102N	probably damaging	Het
Apob	A	G	12: 8,065,741 (GRCm39)	T4237A	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bicd1	A	T	6: 149,420,752 (GRCm39)		probably benign	Het
Caskin2	T	A	11: 115,698,125 (GRCm39)	E49V	probably damaging	Het
Cemip	T	A	7: 83,622,449 (GRCm39)	I577F	probably benign	Het
Chrnb1	T	C	11: 69,686,501 (GRCm39)	S40G	possibly damaging	Het
Ctif	C	T	18: 75,654,632 (GRCm39)	C298Y	probably benign	Het
Cul9	A	C	17: 46,840,977 (GRCm39)	H764Q	probably benign	Het
Cwf19l2	T	A	9: 3,458,839 (GRCm39)	C763S	probably damaging	Het
Dhx57	A	T	17: 80,549,596 (GRCm39)		probably null	Het
Dnaaf10	T	A	11: 17,177,165 (GRCm39)	N174K	probably damaging	Het
Dnhd1	G	A	7: 105,353,171 (GRCm39)	D2775N	probably benign	Het
Enpp1	A	T	10: 24,537,833 (GRCm39)	M384K	possibly damaging	Het
Fat2	T	C	11: 55,202,144 (GRCm39)	N310S	probably benign	Het
Fbxw7	A	T	3: 84,874,814 (GRCm39)	Y232F	possibly damaging	Het
Fcamr	T	A	1: 130,740,423 (GRCm39)	S281T	possibly damaging	Het
Gm10762	C	T	2: 128,809,106 (GRCm39)	W81*	probably null	Het
Gm5592	A	G	7: 40,805,314 (GRCm39)		probably benign	Het
Gm5745	T	C	9: 73,082,980 (GRCm39)		noncoding transcript	Het
Gm6185	G	C	1: 161,040,824 (GRCm39)		noncoding transcript	Het
Hid1	T	A	11: 115,246,125 (GRCm39)	N382Y	probably damaging	Het
Hoxa10	A	T	6: 52,209,569 (GRCm39)	F68I	probably damaging	Het
Ift88	T	A	14: 57,679,326 (GRCm39)		probably null	Het
Ighg2b	A	T	12: 113,270,011 (GRCm39)	*336R	probably null	Het
Ighv7-2	A	C	12: 113,875,892 (GRCm39)	L37R	probably damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnn3	G	C	3: 89,574,596 (GRCm39)	V703L	possibly damaging	Het
Kiz	C	A	2: 146,732,989 (GRCm39)	S388R	probably damaging	Het
Klhl20	G	A	1: 160,921,333 (GRCm39)	Q41*	probably null	Het
Krt31	T	C	11: 99,938,610 (GRCm39)	I328V	possibly damaging	Het
Lama4	A	T	10: 38,909,049 (GRCm39)	I330L	probably benign	Het
Lipo2	A	T	19: 33,723,151 (GRCm39)	S213T	probably benign	Het
Lrsam1	A	T	2: 32,816,804 (GRCm39)	I723N	probably damaging	Het
Man2b2	G	A	5: 36,972,865 (GRCm39)	R550W	probably damaging	Het
Map4k5	A	T	12: 69,888,758 (GRCm39)	L224*	probably null	Het
Mast3	A	G	8: 71,233,010 (GRCm39)	S1101P	probably damaging	Het
Mertk	A	G	2: 128,643,225 (GRCm39)	S875G	probably benign	Het
Mmel1	A	G	4: 154,972,354 (GRCm39)	M302V	probably benign	Het
Mrgpra3	T	A	7: 47,239,716 (GRCm39)	H70L	possibly damaging	Het
Myh3	T	A	11: 66,979,836 (GRCm39)	S592T	probably benign	Het
Nbeal2	T	C	9: 110,465,383 (GRCm39)	I451V	possibly damaging	Het
Nup155	T	A	15: 8,158,010 (GRCm39)	V489D	possibly damaging	Het
Obscn	T	A	11: 58,913,159 (GRCm39)	T6300S	probably benign	Het
Oprm1	A	G	10: 6,779,036 (GRCm39)	I146V	probably damaging	Het
Or1ad1	T	A	11: 50,875,910 (GRCm39)	C127*	probably null	Het
Or1j4	A	G	2: 36,740,888 (GRCm39)	M277V	probably benign	Het
Or4k44	G	T	2: 111,367,797 (GRCm39)	T279K	probably damaging	Het
Or5ae1	A	C	7: 84,565,634 (GRCm39)	I216L	possibly damaging	Het
Otub1	A	T	19: 7,181,794 (GRCm39)	D27E	probably damaging	Het
Pik3ca	T	C	3: 32,492,131 (GRCm39)	V243A	probably benign	Het
Pla2g12b	G	A	10: 59,252,336 (GRCm39)		probably null	Het
Plekha8	A	G	6: 54,601,546 (GRCm39)	D321G	probably damaging	Het
Pprc1	T	C	19: 46,059,795 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rbms3	C	T	9: 116,773,441 (GRCm39)		probably benign	Het
Rictor	T	A	15: 6,821,161 (GRCm39)	V1495D	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,507 (GRCm39)		noncoding transcript	Het
Ryr3	A	T	2: 112,483,090 (GRCm39)	I4219N	probably damaging	Het
Sbf2	G	A	7: 109,977,146 (GRCm39)		probably benign	Het
Scn10a	C	T	9: 119,467,738 (GRCm39)	A801T	probably damaging	Het
Scn9a	T	A	2: 66,314,093 (GRCm39)	Y1866F	possibly damaging	Het
Sec1	A	C	7: 45,328,727 (GRCm39)	Y107D	probably damaging	Het
Sema6d	C	T	2: 124,504,214 (GRCm39)	T619M	possibly damaging	Het
Slc2a4	A	G	11: 69,837,413 (GRCm39)	V44A	probably damaging	Het
Slc5a12	T	C	2: 110,452,085 (GRCm39)	I326T	possibly damaging	Het
Smarca5	T	C	8: 81,435,309 (GRCm39)		probably null	Het
Smarcd2	A	G	11: 106,157,357 (GRCm39)		probably null	Het
Snrpa1	A	T	7: 65,719,321 (GRCm39)		probably benign	Het
Sptbn5	T	G	2: 119,898,449 (GRCm39)	K470Q	probably benign	Het
Stard9	T	G	2: 120,526,422 (GRCm39)	V893G	possibly damaging	Het
Stx8	T	G	11: 67,864,099 (GRCm39)	V53G	possibly damaging	Het
Sv2c	A	T	13: 96,122,457 (GRCm39)	W440R	probably damaging	Het
Tcstv2a	A	T	13: 120,725,686 (GRCm39)	T117S	probably damaging	Het
Tmem181a	A	T	17: 6,330,940 (GRCm39)	I67F	probably benign	Het
Tmprss7	C	T	16: 45,483,679 (GRCm39)	C565Y	probably damaging	Het
Trafd1	A	T	5: 121,516,561 (GRCm39)	L109H	probably damaging	Het
Trpv4	A	G	5: 114,768,083 (GRCm39)	I422T	possibly damaging	Het
Usp24	T	A	4: 106,273,244 (GRCm39)	Y2210N	probably damaging	Het
Vmn1r236	A	T	17: 21,507,202 (GRCm39)	N107Y	probably damaging	Het
Vmn2r13	A	T	5: 109,321,938 (GRCm39)	I253K	probably damaging	Het
Vmn2r2	T	A	3: 64,041,960 (GRCm39)	I252F	probably damaging	Het
Vsig8	A	G	1: 172,387,205 (GRCm39)	D27G	probably damaging	Het
Wiz	A	T	17: 32,575,411 (GRCm39)	Y908*	probably null	Het
Wnk1	A	T	6: 119,939,399 (GRCm39)	S1113T	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfp691	G	T	4: 119,027,764 (GRCm39)	T156K	probably damaging	Het
Zfp791	A	T	8: 85,837,035 (GRCm39)	D276E	probably benign	Het

Other mutations in Sh2b3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02283:Sh2b3	APN	5	121,956,718 (GRCm39)	missense	probably benign	0.09
IGL02328:Sh2b3	APN	5	121,955,922 (GRCm39)	missense	probably benign	0.00
PIT4449001:Sh2b3	UTSW	5	121,966,742 (GRCm39)	missense	possibly damaging	0.95
R0164:Sh2b3	UTSW	5	121,967,100 (GRCm39)	missense	probably damaging	0.97
R0164:Sh2b3	UTSW	5	121,967,100 (GRCm39)	missense	probably damaging	0.97
R2898:Sh2b3	UTSW	5	121,967,111 (GRCm39)	start codon destroyed	probably null	0.93
R4374:Sh2b3	UTSW	5	121,966,549 (GRCm39)	unclassified	probably benign
R4688:Sh2b3	UTSW	5	121,956,697 (GRCm39)	missense	probably benign	0.23
R5743:Sh2b3	UTSW	5	121,966,520 (GRCm39)	missense	probably damaging	1.00
R5888:Sh2b3	UTSW	5	121,967,084 (GRCm39)	missense	possibly damaging	0.73
R6130:Sh2b3	UTSW	5	121,953,626 (GRCm39)	splice site	probably null
R6167:Sh2b3	UTSW	5	121,966,418 (GRCm39)	splice site	probably null
R6413:Sh2b3	UTSW	5	121,966,986 (GRCm39)	missense	probably damaging	1.00
R7499:Sh2b3	UTSW	5	121,956,536 (GRCm39)	missense	probably damaging	0.97
R7615:Sh2b3	UTSW	5	121,956,763 (GRCm39)	missense	probably benign	0.00
R7672:Sh2b3	UTSW	5	121,956,822 (GRCm39)	critical splice donor site	probably null
R9748:Sh2b3	UTSW	5	121,955,874 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-04-14