Mutagenetix > Incidental Mutation

Incidental Mutation 'R5281:She'

402768

Institutional Source

Beutler Lab

Gene Symbol

She

Ensembl Gene

ENSMUSG00000046280

Gene Name

src homology 2 domain-containing transforming protein E

Synonyms

MMRRC Submission

042866-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5281 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

89738677-89766141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89756888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 314 (D314G)

Ref Sequence

ENSEMBL: ENSMUSP00000059658 (fasta)

Gene Model

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

AlphaFold

Q8BSD5

Predicted Effect

probably benign
Transcript: ENSMUST00000050401
AA Change: D314G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059658
Gene: ENSMUSG00000046280
AA Change: D314G

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	A	G	7: 82,178,142 (GRCm39)	H535R	probably damaging	Het
Aff4	A	G	11: 53,263,115 (GRCm39)	E45G	probably damaging	Het
Ano10	A	G	9: 122,090,552 (GRCm39)	S254P	probably damaging	Het
Arhgap21	T	A	2: 20,854,127 (GRCm39)	E1745V	probably damaging	Het
Atp10b	T	C	11: 43,145,163 (GRCm39)	L1302P	probably damaging	Het
Btn2a2	A	G	13: 23,663,002 (GRCm39)	V316A	probably damaging	Het
C2cd4c	G	A	10: 79,448,878 (GRCm39)	P90S	probably benign	Het
Cant1	A	T	11: 118,299,696 (GRCm39)	W255R	probably damaging	Het
Cenpe	A	C	3: 134,935,911 (GRCm39)	K449Q	possibly damaging	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Dmbt1	T	C	7: 130,684,349 (GRCm39)	V615A	probably damaging	Het
Dnajc5b	T	C	3: 19,664,724 (GRCm39)	V174A	probably benign	Het
Dst	C	A	1: 34,296,863 (GRCm39)	H5751N	probably benign	Het
Eif2d	A	G	1: 131,101,080 (GRCm39)	E562G	probably damaging	Het
Epha10	A	T	4: 124,807,781 (GRCm39)		probably benign	Het
Epha4	C	T	1: 77,351,504 (GRCm39)	G917D	probably benign	Het
Fap	C	T	2: 62,363,305 (GRCm39)		probably null	Het
Fsd2	T	C	7: 81,202,733 (GRCm39)	E282G	probably benign	Het
Gls	A	T	1: 52,230,316 (GRCm39)	M136K	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gusb	T	C	5: 130,027,367 (GRCm39)	T313A	probably benign	Het
Ints7	T	C	1: 191,347,883 (GRCm39)	Y752H	possibly damaging	Het
Krt17	G	A	11: 100,151,527 (GRCm39)	Q89*	probably null	Het
Mfsd4b4	T	C	10: 39,768,467 (GRCm39)	I209V	probably benign	Het
Nr0b2	A	G	4: 133,283,335 (GRCm39)	I191V	probably benign	Het
Or51af1	T	C	7: 103,141,180 (GRCm39)	I302V	probably benign	Het
Pcdhb21	T	C	18: 37,646,988 (GRCm39)	M39T	probably benign	Het
Pds5b	T	G	5: 150,670,073 (GRCm39)	Y354D	probably benign	Het
Shpk	T	C	11: 73,105,946 (GRCm39)	M266T	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slfn4	T	G	11: 83,078,025 (GRCm39)	V271G	probably damaging	Het
Slitrk6	C	T	14: 110,987,805 (GRCm39)	R634H	probably damaging	Het
Trrap	T	C	5: 144,750,313 (GRCm39)	F1555L	probably benign	Het
Vldlr	A	C	19: 27,221,631 (GRCm39)	E665D	probably benign	Het
Whrn	T	C	4: 63,336,664 (GRCm39)	T633A	probably benign	Het
Xylt2	A	G	11: 94,559,616 (GRCm39)	V342A	probably benign	Het
Zfp800	A	T	6: 28,243,165 (GRCm39)	V600E	probably benign	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
R1952:She	UTSW	3	89,756,792 (GRCm39)	missense	possibly damaging	0.63
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
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'- AAAGATCCCCTGGTGAAGGC -3'
(R):5'- GGCTACTCAATGGATAGAGCCAG -3'

Sequencing Primer
(F):5'- AGGCCCTCCAGTTGCTTGATG -3'
(R):5'- AAGGCCACAGATTCAGGCGTC -3'

Posted On

2016-07-22