Mutagenetix > Incidental Mutation

Incidental Mutation 'R1952:She'

217360

Institutional Source

Beutler Lab

Gene Symbol

She

Ensembl Gene

ENSMUSG00000046280

Gene Name

src homology 2 domain-containing transforming protein E

Synonyms

MMRRC Submission

039966-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R1952 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89738677-89766141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89756792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 282 (K282R)

Ref Sequence

ENSEMBL: ENSMUSP00000059658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050401]

AlphaFold

Q8BSD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050401
AA Change: K282R

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059658
Gene: ENSMUSG00000046280
AA Change: K282R

Domain	Start	End	E-Value	Type
low complexity region	50	62	N/A	INTRINSIC
low complexity region	167	184	N/A	INTRINSIC
SH2	391	475	6.63e-24	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,110,293 (GRCm39)	V6A	possibly damaging	Het
Accsl	G	T	2: 93,689,778 (GRCm39)	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,735,119 (GRCm39)		probably null	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,338,566 (GRCm39)	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,409,329 (GRCm39)	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,654,789 (GRCm39)	T804A	probably damaging	Het
Capn11	A	T	17: 45,953,885 (GRCm39)	W154R	probably damaging	Het
Cd44	T	A	2: 102,683,432 (GRCm39)	T201S	probably damaging	Het
Cers4	G	A	8: 4,573,461 (GRCm39)	W319*	probably null	Het
Col27a1	T	A	4: 63,202,130 (GRCm39)		probably null	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,248,028 (GRCm39)	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474 (GRCm39)	N759S	probably damaging	Het
Fat1	T	C	8: 45,486,963 (GRCm39)	V3413A	probably benign	Het
Gls2	A	G	10: 128,045,231 (GRCm39)	H576R	probably benign	Het
Gm4884	G	A	7: 40,693,671 (GRCm39)	V547M	probably benign	Het
Hap1	A	G	11: 100,243,105 (GRCm39)	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,269,300 (GRCm39)	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150 (GRCm39)	I742V	probably benign	Het
Katnal2	G	T	18: 77,067,707 (GRCm39)	S411R	probably benign	Het
Lrp1	A	C	10: 127,403,300 (GRCm39)	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,056,368 (GRCm39)	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077 (GRCm39)	E991D	possibly damaging	Het
Mip	T	C	10: 128,061,772 (GRCm39)	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,568,048 (GRCm39)	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,696,987 (GRCm39)		probably null	Het
Myrfl	C	T	10: 116,658,716 (GRCm39)	V414I	probably benign	Het
Nbeal1	T	C	1: 60,273,999 (GRCm39)	V409A	probably damaging	Het
Nin	T	A	12: 70,077,700 (GRCm39)	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,490,464 (GRCm39)	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,523,770 (GRCm39)	V570A	probably benign	Het
Olfm3	A	T	3: 114,895,589 (GRCm39)	E157V	probably null	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8g37	T	C	9: 39,731,363 (GRCm39)	S143P	probably benign	Het
Otud7a	A	G	7: 63,300,624 (GRCm39)	D21G	probably damaging	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pcf11	A	T	7: 92,310,546 (GRCm39)	S481T	probably damaging	Het
Prkab2	T	C	3: 97,573,943 (GRCm39)	V194A	probably benign	Het
Prl3a1	G	A	13: 27,454,136 (GRCm39)	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,419,884 (GRCm39)	V246A	probably damaging	Het
Ptpn12	A	T	5: 21,203,308 (GRCm39)	V490E	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Qars1	G	A	9: 108,390,380 (GRCm39)	R427H	probably benign	Het
R3hdml	T	C	2: 163,340,216 (GRCm39)	F128L	probably benign	Het
Rapgef4	A	G	2: 72,038,471 (GRCm39)	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,164,277 (GRCm39)	R234*	probably null	Het
Rufy1	A	T	11: 50,297,233 (GRCm39)	D406E	probably benign	Het
Satb1	A	T	17: 52,047,173 (GRCm39)	L683Q	probably damaging	Het
Satb2	T	C	1: 56,938,229 (GRCm39)	T132A	probably damaging	Het
Sbspon	A	G	1: 15,930,519 (GRCm39)	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347 (GRCm39)		probably null	Het
Slc25a13	A	G	6: 6,152,482 (GRCm39)	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578 (GRCm39)	H475L	probably benign	Het
Sorl1	C	T	9: 41,957,920 (GRCm39)	V575I	probably benign	Het
Spag9	T	A	11: 93,988,184 (GRCm39)	C833S	possibly damaging	Het
Speer2	A	C	16: 69,654,052 (GRCm39)	N232K	probably damaging	Het
Syncrip	A	T	9: 88,358,927 (GRCm39)	M194K	probably damaging	Het
Sytl3	A	C	17: 6,995,732 (GRCm39)	T171P	probably damaging	Het
Taar7f	T	A	10: 23,925,747 (GRCm39)	Y114N	probably damaging	Het
Tamalin	T	C	15: 101,122,381 (GRCm39)	Y67H	probably benign	Het
Tap1	C	G	17: 34,412,481 (GRCm39)	P506R	probably damaging	Het
Tle6	T	C	10: 81,431,319 (GRCm39)	D212G	possibly damaging	Het
Trim80	G	T	11: 115,332,155 (GRCm39)	E116*	probably null	Het
Ttll4	A	G	1: 74,726,718 (GRCm39)	R745G	probably damaging	Het
Vdac2	A	T	14: 21,887,947 (GRCm39)	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,272,309 (GRCm39)	R88G	probably damaging	Het
Washc2	T	C	6: 116,232,052 (GRCm39)	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,507,647 (GRCm39)	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,893,437 (GRCm39)	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,745,739 (GRCm39)	A32V	probably benign	Het
Zfp608	T	A	18: 55,030,851 (GRCm39)	K1030*	probably null	Het
Zfp618	T	A	4: 63,050,555 (GRCm39)		probably null	Het

Other mutations in She

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:She	APN	3	89,739,373 (GRCm39)	missense	probably damaging	0.99
esmerelda	UTSW	3	89,759,795 (GRCm39)	critical splice donor site	probably null
Tesoro	UTSW	3	89,761,864 (GRCm39)	missense	possibly damaging	0.67
R0926:She	UTSW	3	89,758,901 (GRCm39)	splice site	probably benign
R1563:She	UTSW	3	89,761,921 (GRCm39)	missense	probably benign	0.00
R1564:She	UTSW	3	89,756,921 (GRCm39)	missense	possibly damaging	0.81
R1776:She	UTSW	3	89,739,345 (GRCm39)	missense	possibly damaging	0.90
R2881:She	UTSW	3	89,739,231 (GRCm39)	missense	probably benign	0.02
R4117:She	UTSW	3	89,759,679 (GRCm39)	missense	probably damaging	1.00
R4838:She	UTSW	3	89,758,946 (GRCm39)	missense	probably benign	0.05
R4960:She	UTSW	3	89,741,544 (GRCm39)	missense	possibly damaging	0.90
R5281:She	UTSW	3	89,756,888 (GRCm39)	missense	probably benign
R5491:She	UTSW	3	89,739,097 (GRCm39)	missense	probably damaging	0.99
R7422:She	UTSW	3	89,761,864 (GRCm39)	missense	possibly damaging	0.67
R7576:She	UTSW	3	89,738,919 (GRCm39)	missense	probably damaging	0.97
R8414:She	UTSW	3	89,739,174 (GRCm39)	missense	probably benign	0.11
R8780:She	UTSW	3	89,739,256 (GRCm39)	missense	probably damaging	1.00
R8871:She	UTSW	3	89,759,795 (GRCm39)	critical splice donor site	probably null
R9099:She	UTSW	3	89,739,078 (GRCm39)	missense	probably benign
Z1176:She	UTSW	3	89,759,673 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTGTCCATGACCATTTGAGG -3'
(R):5'- GTCCTGAAAGCCACACTGTG -3'

Sequencing Primer
(F):5'- CCATGACCATTTGAGGTGTTCCATG -3'
(R):5'- TCACCTGACAGGGCTCTC -3'

Posted On

2014-08-01