Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02150:Sh2d5'

281946

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 #

IGL02150

Quality Score

Status

Chromosome

Chromosomal Location

137977722-137988279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137985553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 334 (D334N)

Ref Sequence

ENSEMBL: ENSMUSP00000101450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030539] [ENSMUST00000105818] [ENSMUST00000105821] [ENSMUST00000105823] [ENSMUST00000105824] [ENSMUST00000124239]

AlphaFold

Q8JZW5

Predicted Effect

probably benign
Transcript: ENSMUST00000030539

SMART Domains

Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758

Domain	Start	End	E-Value	Type
KISc	3	343	4.57e-178	SMART
coiled coil region	400	470	N/A	INTRINSIC
low complexity region	723	736	N/A	INTRINSIC
coiled coil region	806	852	N/A	INTRINSIC
low complexity region	983	1000	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000105820

Predicted Effect

probably benign
Transcript: ENSMUST00000105821

SMART Domains

Protein: ENSMUSP00000101447
Gene: ENSMUSG00000028758

Domain	Start	End	E-Value	Type
KISc	3	343	4.57e-178	SMART
low complexity region	486	499	N/A	INTRINSIC
coiled coil region	569	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105823
AA Change: D334N

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349
AA Change: D334N

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
AA Change: D334N

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349
AA Change: D334N

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: ENSMUST00000154421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139033

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	C	T	9: 65,420,001 (GRCm39)	G92S	probably damaging	Het
Arid1a	A	T	4: 133,414,568 (GRCm39)	M1221K	unknown	Het
Arl10	G	A	13: 54,726,662 (GRCm39)	V147M	probably damaging	Het
Bbs4	T	C	9: 59,243,651 (GRCm39)	N152S	probably benign	Het
Cacna2d2	T	G	9: 107,404,515 (GRCm39)		probably benign	Het
Capn9	A	G	8: 125,340,582 (GRCm39)	E582G	probably benign	Het
Cct2	A	T	10: 116,898,004 (GRCm39)	L61Q	probably damaging	Het
Clip4	A	G	17: 72,106,071 (GRCm39)	I85V	probably damaging	Het
Daam2	A	T	17: 49,797,332 (GRCm39)	L151Q	possibly damaging	Het
Dlst	T	A	12: 85,177,807 (GRCm39)	I400N	possibly damaging	Het
Dock7	A	T	4: 98,968,089 (GRCm39)		probably benign	Het
Dynlrb2	A	G	8: 117,242,449 (GRCm39)	N93S	probably benign	Het
Efl1	A	G	7: 82,335,899 (GRCm39)	T407A	probably benign	Het
Emilin1	A	G	5: 31,077,517 (GRCm39)	D891G	possibly damaging	Het
Enpp4	A	C	17: 44,413,049 (GRCm39)	S162A	probably benign	Het
Epas1	A	G	17: 87,112,717 (GRCm39)	D105G	probably damaging	Het
Fcgbpl1	T	A	7: 27,846,204 (GRCm39)	Y965*	probably null	Het
Gcn1	T	A	5: 115,747,927 (GRCm39)	I1778N	probably damaging	Het
Gm14496	A	C	2: 181,633,140 (GRCm39)	D41A	probably damaging	Het
Gm7008	T	A	12: 40,273,257 (GRCm39)		probably benign	Het
Hcfc2	G	A	10: 82,545,852 (GRCm39)	S246N	probably damaging	Het
Hectd1	T	C	12: 51,815,974 (GRCm39)	N1366S	probably damaging	Het
Lgmn	T	C	12: 102,361,986 (GRCm39)	R372G	possibly damaging	Het
Map2k7	A	G	8: 4,293,818 (GRCm39)	M153V	possibly damaging	Het
Megf8	T	A	7: 25,045,842 (GRCm39)		probably null	Het
Mgat4c	A	C	10: 102,224,983 (GRCm39)	E399A	probably benign	Het
Myorg	A	G	4: 41,499,183 (GRCm39)	V149A	possibly damaging	Het
Nfat5	C	T	8: 108,094,584 (GRCm39)	Q942*	probably null	Het
Notch4	A	G	17: 34,803,587 (GRCm39)	E1502G	probably damaging	Het
Optn	A	C	2: 5,037,963 (GRCm39)	I410M	probably damaging	Het
Or6b9	G	T	7: 106,555,763 (GRCm39)	P127T	probably damaging	Het
Or8c17	A	T	9: 38,180,564 (GRCm39)	I252L	possibly damaging	Het
Ppp1ca	G	A	19: 4,244,698 (GRCm39)		probably benign	Het
Pramel5	C	A	4: 143,999,771 (GRCm39)	L105F	possibly damaging	Het
Rad54b	T	A	4: 11,610,502 (GRCm39)	N706K	probably damaging	Het
Rgs11	A	T	17: 26,421,968 (GRCm39)	T6S	probably benign	Het
Sbf1	T	C	15: 89,179,683 (GRCm39)	H1308R	probably benign	Het
Scart2	G	A	7: 139,877,772 (GRCm39)	G918D	possibly damaging	Het
Sec31a	T	C	5: 100,533,984 (GRCm39)		probably benign	Het
Skint5	T	A	4: 113,742,988 (GRCm39)	I360F	unknown	Het
Slc12a1	G	A	2: 125,026,735 (GRCm39)	D457N	probably damaging	Het
Slco2a1	C	T	9: 102,962,017 (GRCm39)	A563V	probably damaging	Het
Snrnp35	G	A	5: 124,628,471 (GRCm39)	A95T	probably damaging	Het
Snx25	C	A	8: 46,569,318 (GRCm39)	R193L	possibly damaging	Het
Stxbp5	T	G	10: 9,638,565 (GRCm39)	Q1078P	probably damaging	Het
Tmc2	A	T	2: 130,082,073 (GRCm39)	I419F	probably damaging	Het
Tmem87a	A	T	2: 120,190,557 (GRCm39)	W525R	probably damaging	Het
Trhde	A	T	10: 114,428,013 (GRCm39)	S428T	probably damaging	Het
Trp73	G	A	4: 154,165,943 (GRCm39)	A42V	possibly damaging	Het
Ttn	T	C	2: 76,679,316 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,598,846 (GRCm39)	V19356M	probably damaging	Het
Vmn1r170	T	A	7: 23,306,465 (GRCm39)	L289*	probably null	Het
Vwa5b2	A	T	16: 20,423,576 (GRCm39)	Q1163L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	Het
Wdr70	T	G	15: 8,112,030 (GRCm39)	K71T	possibly damaging	Het
Zbtb41	T	C	1: 139,368,186 (GRCm39)	S625P	possibly damaging	Het
Zfp518b	A	G	5: 38,830,686 (GRCm39)	S440P	probably damaging	Het
Zfp518b	A	G	5: 38,831,132 (GRCm39)	V291A	probably damaging	Het
Zmym2	G	A	14: 57,148,526 (GRCm39)		probably benign	Het

Other mutations in Sh2d5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02715:Sh2d5	APN	4	137,984,018 (GRCm39)	splice site	probably benign
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