Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02149:Shc2'

281893

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shc2

Ensembl Gene

ENSMUSG00000020312

Gene Name

SHC (Src homology 2 domain containing) transforming protein 2

Synonyms

ShcB, Sli

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02149

Quality Score

Status

Chromosome

Chromosomal Location

79618051-79637918 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79622268 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 527 (D527G)

Ref Sequence

ENSEMBL: ENSMUSP00000020564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020564]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020564
AA Change: D527G

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

SMART Domains

Protein: ENSMUSP00000020564
Gene: ENSMUSG00000020312
AA Change: D527G

Domain	Start	End	E-Value	Type
PTB	1	154	4.43e-24	SMART
low complexity region	172	178	N/A	INTRINSIC
SH2	341	420	5.81e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163867
AA Change: D527G

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

SMART Domains

Protein: ENSMUSP00000129491
Gene: ENSMUSG00000020312
AA Change: D527G

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
low complexity region	67	85	N/A	INTRINSIC
PTB	126	289	7.41e-35	SMART
low complexity region	307	313	N/A	INTRINSIC
SH2	476	555	5.81e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168116

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display sensory nerve defects related to nociception. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam10	A	T	9: 70,703,431	H67L	probably damaging	Het
Adgrb1	C	T	15: 74,540,477	T435I	probably damaging	Het
Adgrd1	T	A	5: 129,179,261	F652Y	probably damaging	Het
Adgrl4	T	A	3: 151,500,354	F250Y	possibly damaging	Het
Aebp2	C	T	6: 140,642,284	A360V	probably benign	Het
AW551984	A	C	9: 39,592,924	M582R	probably benign	Het
B430306N03Rik	T	C	17: 48,316,992	V107A	probably benign	Het
Cage1	T	C	13: 38,022,529	N447D	probably damaging	Het
Col17a1	T	C	19: 47,668,632	D524G	probably benign	Het
Dpp6	A	T	5: 27,538,024	I218F	probably benign	Het
Ep300	T	G	15: 81,628,420		probably benign	Het
Ephb2	C	T	4: 136,693,914	C375Y	probably damaging	Het
Fastk	A	G	5: 24,444,053	V112A	probably damaging	Het
Fbxo11	T	A	17: 87,993,759	R775S	possibly damaging	Het
Fbxw20	A	G	9: 109,233,818		probably null	Het
Hamp2	G	T	7: 30,922,697	A50E	probably damaging	Het
Iltifb	C	A	10: 118,294,997		probably benign	Het
Ints1	G	A	5: 139,751,960	R2139C	probably damaging	Het
Itgae	T	A	11: 73,103,894	V24E	probably benign	Het
Jakmip3	G	A	7: 139,007,346	V60M	possibly damaging	Het
Kcnk10	A	C	12: 98,518,840		probably benign	Het
Klra1	A	T	6: 130,375,330	C150S	probably damaging	Het
Lhx9	A	T	1: 138,831,434	V376E	probably damaging	Het
Mdm1	T	A	10: 118,148,065	F199I	probably damaging	Het
Nipal3	G	T	4: 135,466,852	T290K	possibly damaging	Het
Obsl1	C	T	1: 75,503,820	E387K	probably damaging	Het
Olfr902	A	G	9: 38,449,397	H175R	probably damaging	Het
Oxct1	A	G	15: 4,091,229	Y265C	probably damaging	Het
Pccb	G	A	9: 100,985,190	H411Y	probably damaging	Het
Pkp1	A	G	1: 135,886,747	S279P	probably benign	Het
Prdm14	C	A	1: 13,125,439	G133C	probably benign	Het
Prkaa2	A	T	4: 105,040,088	N309K	probably benign	Het
Shkbp1	C	T	7: 27,342,639		probably benign	Het
Skil	T	C	3: 31,097,707	V126A	possibly damaging	Het
Slc25a36	A	T	9: 97,093,069		probably benign	Het
Slc2a13	T	C	15: 91,343,721	T423A	probably benign	Het
Spty2d1	A	G	7: 47,008,144		probably benign	Het
Stag1	A	G	9: 100,887,389	D519G	probably benign	Het
Tmprss2	G	T	16: 97,599,279		probably benign	Het
Trim66	G	T	7: 109,460,902	T759K	possibly damaging	Het
Trpc4ap	C	A	2: 155,639,547	A530S	probably damaging	Het
Ttn	A	T	2: 76,811,755	D11625E	probably damaging	Het
Ube4b	T	C	4: 149,398,684	I42M	possibly damaging	Het
Ubxn10	A	G	4: 138,721,273	S31P	probably benign	Het
Ubxn7	A	G	16: 32,375,270	Y220C	probably damaging	Het
Vmn1r234	A	G	17: 21,229,007	Y61C	probably benign	Het

Other mutations in Shc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Shc2	APN	10	79621069	missense	probably damaging	1.00
IGL01586:Shc2	APN	10	79622304	missense	probably damaging	0.99
IGL01965:Shc2	APN	10	79627189	splice site	probably benign
IGL02252:Shc2	APN	10	79626370	missense	probably benign	0.00
shrine	UTSW	10	79629917	missense	probably damaging	0.99
R0538:Shc2	UTSW	10	79630140	splice site	probably benign
R0630:Shc2	UTSW	10	79626141	splice site	probably null
R0894:Shc2	UTSW	10	79629917	missense	probably damaging	0.99
R1166:Shc2	UTSW	10	79621112	missense	probably damaging	1.00
R1339:Shc2	UTSW	10	79626416	missense	probably benign	0.00
R1465:Shc2	UTSW	10	79631302	missense	probably damaging	1.00
R1465:Shc2	UTSW	10	79631302	missense	probably damaging	1.00
R1647:Shc2	UTSW	10	79626111	missense	probably benign
R1648:Shc2	UTSW	10	79626111	missense	probably benign
R1959:Shc2	UTSW	10	79626791	splice site	probably null
R3800:Shc2	UTSW	10	79626873	missense	probably benign	0.40
R4603:Shc2	UTSW	10	79623856	missense	probably benign	0.03
R4635:Shc2	UTSW	10	79626286	missense	probably benign	0.35
R4656:Shc2	UTSW	10	79621169	missense	probably damaging	1.00
R4715:Shc2	UTSW	10	79622379	missense	probably benign	0.01
R4841:Shc2	UTSW	10	79622461	missense	probably damaging	0.98
R4842:Shc2	UTSW	10	79622461	missense	probably damaging	0.98
R5057:Shc2	UTSW	10	79623872	missense	probably benign	0.01
R5394:Shc2	UTSW	10	79630099	missense	probably damaging	1.00
R6153:Shc2	UTSW	10	79629918	missense	possibly damaging	0.90
R6160:Shc2	UTSW	10	79627019	critical splice donor site	probably null
R6178:Shc2	UTSW	10	79630120	missense	probably damaging	1.00

Posted On

2015-04-16