Mutagenetix > Incidental Mutation

Incidental Mutation 'R2109:Sh2b1'

232373

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

040113-MU

Accession Numbers

Essential gene?

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

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126066166-126074596 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 126071536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 216 (D216E)

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: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000032978
Gene: ENSMUSG00000030733
AA Change: D216E

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: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205440
AA Change: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205497
AA Change: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205733
AA Change: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205889
AA Change: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206515

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206664
AA Change: D216E

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000206643

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	G	T	7: 43,900,435 (GRCm39)	R113S	probably benign	Het
Ackr2	A	T	9: 121,738,026 (GRCm39)	I134F	probably damaging	Het
Actr3b	T	A	5: 26,036,709 (GRCm39)	I174N	possibly damaging	Het
Akap9	T	A	5: 4,094,847 (GRCm39)	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,890,768 (GRCm39)	R986L	possibly damaging	Het
Brap	G	T	5: 121,801,422 (GRCm39)	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,598,578 (GRCm39)	H65Y	probably damaging	Het
C1s2	T	C	6: 124,612,004 (GRCm39)	T121A	probably damaging	Het
Capn1	T	A	19: 6,064,388 (GRCm39)	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,869,650 (GRCm39)	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,816,865 (GRCm39)	S195F	probably damaging	Het
Cenpf	T	C	1: 189,411,264 (GRCm39)	K307E	probably damaging	Het
Chodl	A	C	16: 78,738,251 (GRCm39)	N73T	possibly damaging	Het
Cimip2c	G	A	5: 30,637,851 (GRCm39)	G66E	probably damaging	Het
Crnn	A	T	3: 93,055,747 (GRCm39)	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,290,110 (GRCm39)	D221G	probably damaging	Het
Dipk2a	A	T	9: 94,406,498 (GRCm39)	I303N	probably damaging	Het
Dmxl2	A	G	9: 54,301,097 (GRCm39)	V2338A	probably benign	Het
Dnah9	G	T	11: 65,928,411 (GRCm39)	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,725,346 (GRCm39)	I486V	probably benign	Het
E2f8	A	G	7: 48,524,855 (GRCm39)	S265P	probably damaging	Het
Eif1b	A	G	9: 120,323,296 (GRCm39)	D52G	probably benign	Het
Etl4	A	T	2: 20,790,153 (GRCm39)	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,223,059 (GRCm39)		probably benign	Het
Fbxl6	C	A	15: 76,421,173 (GRCm39)	V297F	probably damaging	Het
Fgr	T	A	4: 132,725,786 (GRCm39)	N398K	probably benign	Het
G3bp1	A	G	11: 55,379,986 (GRCm39)	R107G	probably damaging	Het
Gp2	A	T	7: 119,052,155 (GRCm39)	N186K	probably benign	Het
Hbs1l	T	A	10: 21,217,831 (GRCm39)	L249*	probably null	Het
Hmgcs2	T	A	3: 98,204,337 (GRCm39)	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,880,254 (GRCm39)	H96Q	probably benign	Het
Ibtk	C	T	9: 85,588,603 (GRCm39)	V1078I	probably benign	Het
Ltn1	T	C	16: 87,212,530 (GRCm39)	D677G	probably benign	Het
Lyst	C	T	13: 13,887,405 (GRCm39)	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,459,402 (GRCm39)	F199S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mki67	G	A	7: 135,299,592 (GRCm39)	T1814I	probably damaging	Het
Msantd5l	T	A	11: 51,145,264 (GRCm39)	I108F	possibly damaging	Het
Mttp	A	T	3: 137,800,763 (GRCm39)	F766I	probably benign	Het
Nbl1	T	A	4: 138,810,915 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,618,802 (GRCm39)	L118Q	probably damaging	Het
Nopchap1	C	T	10: 83,201,656 (GRCm39)	S143L	probably damaging	Het
Oog3	A	T	4: 143,886,082 (GRCm39)	L172H	probably damaging	Het
Or2y11	T	G	11: 49,443,260 (GRCm39)	S229A	probably damaging	Het
Osbpl1a	T	G	18: 12,892,457 (GRCm39)	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,243,709 (GRCm39)	F921L	possibly damaging	Het
Plch2	T	C	4: 155,069,054 (GRCm39)	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,369,942 (GRCm39)	T18A	possibly damaging	Het
Pogz	T	A	3: 94,786,276 (GRCm39)	S955T	probably benign	Het
Pot1b	A	T	17: 55,960,413 (GRCm39)	I639N	probably benign	Het
Prkdc	T	C	16: 15,505,254 (GRCm39)	I852T	probably benign	Het
Prps1l1	A	G	12: 35,035,521 (GRCm39)	K212R	probably benign	Het
Ptpn5	A	G	7: 46,735,807 (GRCm39)	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,822,973 (GRCm39)	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,880 (GRCm39)	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	T	A	11: 119,333,489 (GRCm39)	Y2899*	probably null	Het
Rttn	C	T	18: 89,004,197 (GRCm39)	T397I	possibly damaging	Het
Sacs	G	T	14: 61,410,902 (GRCm39)		probably null	Het
Sbf2	G	T	7: 110,060,419 (GRCm39)	Q182K	probably damaging	Het
Sec14l5	C	T	16: 4,984,968 (GRCm39)	R105*	probably null	Het
Sh3gl3	A	G	7: 81,920,008 (GRCm39)	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,015,619 (GRCm39)	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,072,381 (GRCm39)	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987 (GRCm39)	I888L	probably benign	Het
Smoc1	C	T	12: 81,197,450 (GRCm39)	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,666,630 (GRCm39)	G93R	probably benign	Het
Sox30	T	G	11: 45,882,595 (GRCm39)	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030 (GRCm39)	V116A	possibly damaging	Het
Synj2	A	G	17: 6,063,966 (GRCm39)	D330G	probably benign	Het
Tenm3	A	C	8: 48,796,384 (GRCm39)	S202A	possibly damaging	Het
Tg	C	T	15: 66,601,443 (GRCm39)	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,414,527 (GRCm39)	E361G	probably damaging	Het
Tnk1	A	T	11: 69,746,009 (GRCm39)	D305E	probably damaging	Het
Tpp1	A	G	7: 105,399,177 (GRCm39)	L133P	probably damaging	Het
Trappc1	T	A	11: 69,215,243 (GRCm39)	M41K	probably damaging	Het
Tsen54	A	G	11: 115,706,549 (GRCm39)	D9G	probably damaging	Het
Ttn	T	A	2: 76,804,598 (GRCm39)	I225F	probably damaging	Het
Ube4b	T	C	4: 149,457,298 (GRCm39)	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379 (GRCm39)	V425A	probably damaging	Het
Wbp2	A	T	11: 115,971,445 (GRCm39)	Y153*	probably null	Het
Xrn1	A	G	9: 95,861,273 (GRCm39)	S478G	probably benign	Het
Zfp354c	T	C	11: 50,707,969 (GRCm39)	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496 (GRCm39)	M154T	probably benign	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	Het
Zfp763	G	T	17: 33,238,752 (GRCm39)	A131E	probably benign	Het
Zfp931	A	T	2: 177,711,651 (GRCm39)	V32E	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
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
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	126,066,765 (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'- GCAGTAAGCGACACTTTTGCC -3'
(R):5'- TTCAGTCAGAGGCTCTGTTCG -3'

Sequencing Primer
(F):5'- GTAAGCGACACTTTTGCCACTGAG -3'
(R):5'- GCTCTGTTCGAGGCATCCTG -3'

Posted On

2014-09-18