Mutagenetix > Incidental Mutation

Incidental Mutation 'R8780:She'

670194

Institutional Source

Beutler Lab

Gene Symbol

She

Ensembl Gene

ENSMUSG00000046280

Gene Name

src homology 2 domain-containing transforming protein E

Synonyms

MMRRC Submission

068604-MU

Accession Numbers

Essential gene?

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

Stock #

R8780 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89738677-89766141 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89739256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 149 (I149N)

Ref Sequence

ENSEMBL: ENSMUSP00000059658 (fasta)

Gene Model

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

AlphaFold

Q8BSD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000050401
AA Change: I149N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059658
Gene: ENSMUSG00000046280
AA Change: I149N

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	A	G	11: 105,888,364 (GRCm39)	D358G	probably damaging	Het
Actmap	T	C	7: 26,900,503 (GRCm39)	S161P	probably benign	Het
Adgrd1	G	A	5: 129,174,138 (GRCm39)		probably benign	Het
Aff4	C	A	11: 53,271,444 (GRCm39)	T327K	probably damaging	Het
Ajap1	A	G	4: 153,470,961 (GRCm39)	V282A	probably damaging	Het
Arrb1	A	G	7: 99,240,568 (GRCm39)	D194G	probably benign	Het
Atp1a3	T	C	7: 24,680,979 (GRCm39)	N836S	probably damaging	Het
C1ql3	A	G	2: 13,015,567 (GRCm39)	V31A	probably benign	Het
Cc2d2a	A	G	5: 43,896,692 (GRCm39)	T1530A	probably damaging	Het
Cenpc1	A	T	5: 86,164,209 (GRCm39)	I804K	probably damaging	Het
Chmp2b	G	A	16: 65,359,422 (GRCm39)		probably benign	Het
Chrm5	T	A	2: 112,310,453 (GRCm39)	E221V	possibly damaging	Het
Col22a1	A	T	15: 71,878,796 (GRCm39)	H120Q	probably damaging	Het
Esp16	C	T	17: 39,850,729 (GRCm39)	A36V	probably damaging	Het
Fn1	A	T	1: 71,682,308 (GRCm39)	S283T	probably benign	Het
Hipk3	A	G	2: 104,264,179 (GRCm39)	L773S	probably damaging	Het
Lcor	C	T	19: 41,573,698 (GRCm39)	R818W	probably damaging	Het
Morn3	A	G	5: 123,175,825 (GRCm39)	W188R	probably damaging	Het
Msantd2	T	G	9: 37,434,798 (GRCm39)	L547R	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Obi1	A	T	14: 104,717,082 (GRCm39)	C430*	probably null	Het
Or4a15	A	T	2: 89,193,652 (GRCm39)	N40K	probably damaging	Het
Or7e166	T	C	9: 19,624,653 (GRCm39)	F177L	possibly damaging	Het
Pcdhga5	G	A	18: 37,828,826 (GRCm39)	V425I	probably benign	Het
Pdxk	T	A	10: 78,283,786 (GRCm39)	Y136F	probably benign	Het
Prr14	T	C	7: 127,075,410 (GRCm39)	F503L	probably benign	Het
Prss54	T	C	8: 96,286,057 (GRCm39)	I339V	probably benign	Het
Repin1	T	C	6: 48,574,073 (GRCm39)	I334T	probably damaging	Het
Runx3	A	G	4: 134,882,720 (GRCm39)	D152G	probably damaging	Het
Stra6	A	G	9: 58,042,254 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,449 (GRCm39)	T907A	probably benign	Het
Syvn1	A	G	19: 6,100,393 (GRCm39)	D288G	probably damaging	Het
Tacc1	T	C	8: 25,672,077 (GRCm39)	S384G	probably benign	Het
Tmc8	ACTTCCT	ACT	11: 117,681,558 (GRCm39)		probably null	Het
Trhr	T	C	15: 44,061,149 (GRCm39)	I223T	possibly damaging	Het
Vmn2r45	A	G	7: 8,484,371 (GRCm39)	I478T	possibly damaging	Het
Zbtb3	G	T	19: 8,781,173 (GRCm39)	R262M	possibly damaging	Het
Zfp516	T	C	18: 83,006,080 (GRCm39)	S995P	probably benign	Het
Zfp985	A	G	4: 147,668,412 (GRCm39)	I427V	possibly damaging	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
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
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'- CTTACTCTGAAGACCGCGTC -3'
(R):5'- TAGAGATGCTGTGTTCTTACCG -3'

Sequencing Primer
(F):5'- CGCGCAAGAACTCGGAGAC -3'
(R):5'- CGTGTCTTGCTGTCTCATTATCTTGG -3'

Posted On

2021-04-30