Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02715:Sh2d5'

304729

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh2d5

Ensembl Gene

ENSMUSG00000045349

Gene Name

SH2 domain containing 5

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02715

Quality Score

Status

Chromosome

Chromosomal Location

137977722-137988279 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 137984018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105818] [ENSMUST00000105823] [ENSMUST00000105824] [ENSMUST00000124239]

AlphaFold

Q8JZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000105818

SMART Domains

Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758

Domain	Start	End	E-Value	Type
KISc	1	151	1.46e-13	SMART
coiled coil region	208	278	N/A	INTRINSIC
low complexity region	532	545	N/A	INTRINSIC
coiled coil region	615	661	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105823

SMART Domains

Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349

Domain	Start	End	E-Value	Type
Pfam:PID	27	149	1e-6	PFAM
SH2	300	384	9.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105824

SMART Domains

Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349

Domain	Start	End	E-Value	Type
SCOP:d1ddma_	24	146	8e-18	SMART
Blast:PTB	28	146	6e-6	BLAST
SH2	300	384	9.29e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154421

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,714 (GRCm39)	I57V	probably damaging	Het
Abce1	T	A	8: 80,416,990 (GRCm39)	E340D	probably damaging	Het
Agbl2	C	T	2: 90,636,212 (GRCm39)	R583W	probably damaging	Het
Aig1	A	G	10: 13,744,360 (GRCm39)		probably null	Het
Atpsckmt	A	G	15: 31,606,149 (GRCm39)	T36A	probably benign	Het
Brd3	C	A	2: 27,344,495 (GRCm39)	A412S	possibly damaging	Het
C3	A	G	17: 57,511,158 (GRCm39)		probably benign	Het
Ccdc127	A	G	13: 74,504,893 (GRCm39)	E147G	probably benign	Het
Chrna4	A	G	2: 180,671,374 (GRCm39)		probably benign	Het
Cnn2	T	C	10: 79,829,323 (GRCm39)	L151P	probably damaging	Het
Col11a1	G	T	3: 113,923,058 (GRCm39)	M7I	probably benign	Het
Cstdc4	T	C	16: 36,008,315 (GRCm39)	I67T	possibly damaging	Het
Fastkd1	A	G	2: 69,542,469 (GRCm39)		probably null	Het
Fcho2	A	G	13: 98,932,843 (GRCm39)	M53T	probably damaging	Het
Fmnl2	T	C	2: 52,962,222 (GRCm39)	Y236H	possibly damaging	Het
G6bos	A	G	17: 35,284,537 (GRCm39)		probably null	Het
Gramd1a	C	T	7: 30,835,279 (GRCm39)	G436D	probably damaging	Het
Hivep2	A	G	10: 14,007,131 (GRCm39)	Y1243C	probably benign	Het
Lrit2	A	G	14: 36,794,505 (GRCm39)	D523G	probably benign	Het
Lrrc2	A	C	9: 110,799,182 (GRCm39)	D177A	probably damaging	Het
Lyst	T	A	13: 13,848,905 (GRCm39)		probably null	Het
Mrgpra6	A	T	7: 46,838,396 (GRCm39)		probably benign	Het
Myh6	T	C	14: 55,184,365 (GRCm39)		probably benign	Het
Myzap	C	A	9: 71,422,397 (GRCm39)	E392*	probably null	Het
Ndst3	G	A	3: 123,340,410 (GRCm39)		probably benign	Het
Nlrc5	C	A	8: 95,201,296 (GRCm39)	P130H	probably damaging	Het
Obscn	T	C	11: 58,971,137 (GRCm39)	T2526A	probably benign	Het
Or1e26	T	A	11: 73,479,947 (GRCm39)	I206F	probably benign	Het
Pcnt	C	A	10: 76,204,556 (GRCm39)		probably benign	Het
Pfpl	T	A	19: 12,407,145 (GRCm39)	C465*	probably null	Het
Pkd1l3	T	A	8: 110,353,458 (GRCm39)	C680S	probably damaging	Het
Ppp1r10	G	T	17: 36,241,604 (GRCm39)	G793V	unknown	Het
Prss27	A	T	17: 24,263,953 (GRCm39)	D213V	possibly damaging	Het
Spata31d1a	T	C	13: 59,851,549 (GRCm39)	D193G	probably benign	Het
Sptan1	T	C	2: 29,868,588 (GRCm39)	V66A	probably benign	Het
Synpr	T	C	14: 13,608,618 (GRCm38)	S133P	probably damaging	Het
Tagln3	T	C	16: 45,544,588 (GRCm39)	N28D	probably benign	Het
Tfrc	A	G	16: 32,443,189 (GRCm39)	T494A	probably benign	Het
Tmem38a	T	C	8: 73,333,512 (GRCm39)	I77T	possibly damaging	Het
Tmem42	C	A	9: 122,851,295 (GRCm39)	T86N	probably damaging	Het
Ttc8	T	A	12: 98,910,179 (GRCm39)		probably benign	Het
Tub	G	A	7: 108,628,517 (GRCm39)	V342I	probably benign	Het
Vmn2r103	A	T	17: 20,014,218 (GRCm39)	I337F	probably damaging	Het
Xkr7	A	G	2: 152,896,277 (GRCm39)	E377G	probably damaging	Het
Zfp292	C	T	4: 34,819,542 (GRCm39)	G260D	probably damaging	Het

Other mutations in Sh2d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02150:Sh2d5	APN	4	137,985,553 (GRCm39)	missense	probably benign	0.19
R0621:Sh2d5	UTSW	4	137,985,629 (GRCm39)	missense	probably benign	0.12
R0622:Sh2d5	UTSW	4	137,986,539 (GRCm39)	missense	probably damaging	0.97
R4605:Sh2d5	UTSW	4	137,984,566 (GRCm39)	nonsense	probably null
R4828:Sh2d5	UTSW	4	137,985,566 (GRCm39)	missense	probably damaging	1.00
R5372:Sh2d5	UTSW	4	137,982,010 (GRCm39)	missense	possibly damaging	0.95
R6053:Sh2d5	UTSW	4	137,982,873 (GRCm39)	missense	probably damaging	0.96
R6441:Sh2d5	UTSW	4	137,986,393 (GRCm39)	missense	possibly damaging	0.95
R7336:Sh2d5	UTSW	4	137,984,150 (GRCm39)	missense	probably benign
R7621:Sh2d5	UTSW	4	137,984,150 (GRCm39)	missense	probably benign	0.01
R7642:Sh2d5	UTSW	4	137,986,467 (GRCm39)	missense	probably benign	0.05
R7828:Sh2d5	UTSW	4	137,984,108 (GRCm39)	missense	probably benign	0.09
R9390:Sh2d5	UTSW	4	137,985,481 (GRCm39)	missense	probably benign
R9536:Sh2d5	UTSW	4	137,986,420 (GRCm39)	missense	probably benign	0.03

Posted On

2015-04-16