Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01608:Shc1'

91868

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shc1

Ensembl Gene

ENSMUSG00000042626

Gene Name

src homology 2 domain-containing transforming protein C1

Synonyms

ShcA, p66shc, p66

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL01608

Quality Score

Status

Chromosome

Chromosomal Location

89418443-89430027 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 89424849 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 204 (Q204K)

Ref Sequence

ENSEMBL: ENSMUSP00000140336 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039110] [ENSMUST00000094378] [ENSMUST00000107417] [ENSMUST00000125036] [ENSMUST00000128238] [ENSMUST00000137793] [ENSMUST00000154791] [ENSMUST00000191485]

AlphaFold

P98083

Predicted Effect

probably damaging
Transcript: ENSMUST00000039110
AA Change: Q204K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035361
Gene: ENSMUSG00000042626
AA Change: Q204K

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
PTB	47	211	2.15e-31	SMART
SH2	372	451	1.71e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094378
AA Change: Q314K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000091940
Gene: ENSMUSG00000042626
AA Change: Q314K

Domain	Start	End	E-Value	Type
low complexity region	16	55	N/A	INTRINSIC
low complexity region	85	98	N/A	INTRINSIC
low complexity region	116	127	N/A	INTRINSIC
PTB	157	321	2.15e-31	SMART
SH2	482	561	1.71e-26	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107417
AA Change: Q159K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103040
Gene: ENSMUSG00000042626
AA Change: Q159K

Domain	Start	End	E-Value	Type
PTB	2	166	2.15e-31	SMART
SH2	327	406	1.71e-26	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125036
AA Change: Q148K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115509
Gene: ENSMUSG00000042626
AA Change: Q148K

Domain	Start	End	E-Value	Type
PTB	1	155	1.5e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128238
AA Change: Q186K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119293
Gene: ENSMUSG00000042626
AA Change: Q186K

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:PID	52	144	7.7e-19	PFAM
Pfam:PID	134	190	7.8e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137793
AA Change: Q204K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117190
Gene: ENSMUSG00000042626
AA Change: Q204K

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
PTB	47	211	2.15e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146306

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153334

Predicted Effect

probably benign
Transcript: ENSMUST00000154791

SMART Domains

Protein: ENSMUSP00000123635
Gene: ENSMUSG00000042626

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:PID	52	100	5.7e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000191485
AA Change: Q204K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140336
Gene: ENSMUSG00000042626
AA Change: Q204K

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
PTB	47	211	2.15e-31	SMART
SH2	372	451	1.71e-26	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygotes with a targeted mutation of the exon encoding the CH2 region show an extended life span, reduced cellular sensitivity to oxidative stress and UV irradiation, and resistance to diet-induced atherogenesis. Homozygotes lacking all three isoformsdie around E11.5 with cardiovascular defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732456N10Rik	A	G	15: 101,562,629	I66T	probably benign	Het
Abca1	A	T	4: 53,038,158	L2068Q	probably damaging	Het
Abca12	G	T	1: 71,259,442	D2340E	probably damaging	Het
Adcy5	A	G	16: 35,272,165	Y632C	probably damaging	Het
Adgrb3	A	G	1: 25,553,774	S311P	probably damaging	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
AF529169	T	C	9: 89,596,498	T832A	probably benign	Het
Atf2	G	T	2: 73,819,078	H396Q	probably damaging	Het
Atp8a1	G	A	5: 67,813,136	R74*	probably null	Het
Brpf3	T	C	17: 28,821,517	S971P	probably benign	Het
Btn1a1	T	C	13: 23,461,608	E197G	probably benign	Het
Ccdc136	C	T	6: 29,406,114	A87V	possibly damaging	Het
Celf4	A	G	18: 25,497,503	L376P	probably damaging	Het
Chrm3	G	A	13: 9,878,598	A134V	possibly damaging	Het
Col19a1	G	A	1: 24,282,545	R961C	probably damaging	Het
Cr2	A	G	1: 195,155,220	V1190A	possibly damaging	Het
Dopey1	T	A	9: 86,507,561	S515T	probably benign	Het
Eprs	T	A	1: 185,385,114		probably benign	Het
Fbn2	G	T	18: 58,053,704	Y1708*	probably null	Het
Glt1d1	A	G	5: 127,664,682	N148S	possibly damaging	Het
Gm20425	T	A	9: 103,191,094	I44F	probably damaging	Het
Gpr22	T	A	12: 31,708,780	K411*	probably null	Het
Ipo11	A	G	13: 106,834,494		probably benign	Het
Klri1	T	A	6: 129,698,167	N210I	possibly damaging	Het
Kmt2c	C	T	5: 25,354,811	V950M	probably damaging	Het
Knop1	T	C	7: 118,845,796	K315R	probably benign	Het
Lrrc32	T	A	7: 98,499,357	V448D	probably benign	Het
Met	T	C	6: 17,558,730	V1119A	probably damaging	Het
Mipep	T	A	14: 60,802,230	I236N	possibly damaging	Het
Mrpl45	A	G	11: 97,316,921	T81A	probably benign	Het
Mtbp	G	T	15: 55,557,689	E24*	probably null	Het
Muc5b	C	T	7: 141,846,437	T476I	unknown	Het
Mup6	C	T	4: 60,006,021	T163I	probably benign	Het
Myo1g	T	A	11: 6,516,780	I278F	possibly damaging	Het
Myo9a	A	T	9: 59,870,836	K1292*	probably null	Het
Nbeal1	T	A	1: 60,242,535		probably benign	Het
Nck1	C	A	9: 100,497,387	R270S	probably benign	Het
Neb	T	C	2: 52,170,536	E6035G	probably damaging	Het
Nlrp4f	A	C	13: 65,195,543	L96*	probably null	Het
Olfr1250	A	T	2: 89,656,491		probably benign	Het
Olfr141	A	C	2: 86,806,425	Y191*	probably null	Het
Olfr606	A	T	7: 103,451,804	I156F	probably benign	Het
Olfr738	A	T	14: 50,414,453	H303L	probably benign	Het
Padi2	A	G	4: 140,932,230	E282G	probably damaging	Het
Pcdhb4	A	G	18: 37,308,750	D371G	probably damaging	Het
Pcdhb8	A	G	18: 37,356,925	D552G	probably damaging	Het
Peli3	A	G	19: 4,932,827	I270T	probably damaging	Het
Phf20	A	G	2: 156,276,596	M407V	probably benign	Het
Ppm1h	C	T	10: 122,941,280	R103*	probably null	Het
Rangap1	C	T	15: 81,709,504	V457M	probably benign	Het
Scube2	A	G	7: 109,843,254	V257A	probably benign	Het
Slc6a4	T	A	11: 77,027,135	Y568N	probably damaging	Het
Srgap3	A	G	6: 112,946,478	F7L	probably benign	Het
St6galnac4	T	A	2: 32,594,086	C99S	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Supt6	A	T	11: 78,225,483	Y685N	probably damaging	Het
Traf3ip3	T	C	1: 193,187,110	T256A	probably benign	Het
Vmn1r74	A	T	7: 11,847,633	I287F	probably damaging	Het
Zmym2	C	A	14: 56,948,015	Q1035K	possibly damaging	Het
Zswim3	G	A	2: 164,821,520	R640H	probably damaging	Het

Other mutations in Shc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Shc1	APN	3	89424229	missense	probably damaging	0.99
IGL02710:Shc1	APN	3	89424610	splice site	probably null
PIT4382001:Shc1	UTSW	3	89427408	missense	probably benign	0.00
R0323:Shc1	UTSW	3	89423713	missense	probably damaging	0.98
R0445:Shc1	UTSW	3	89426537	missense	probably damaging	1.00
R0827:Shc1	UTSW	3	89426783	splice site	probably null
R0833:Shc1	UTSW	3	89422969	missense	probably damaging	1.00
R0836:Shc1	UTSW	3	89422969	missense	probably damaging	1.00
R1155:Shc1	UTSW	3	89424819	missense	probably benign	0.30
R1497:Shc1	UTSW	3	89428445	makesense	probably null
R1929:Shc1	UTSW	3	89423542	missense	probably damaging	1.00
R2271:Shc1	UTSW	3	89423542	missense	probably damaging	1.00
R4402:Shc1	UTSW	3	89426678	missense	probably benign
R4965:Shc1	UTSW	3	89426996	missense	probably damaging	0.98
R5898:Shc1	UTSW	3	89426967	nonsense	probably null
R6198:Shc1	UTSW	3	89422107	missense	probably benign
R6604:Shc1	UTSW	3	89421879	missense	probably damaging	1.00
R6673:Shc1	UTSW	3	89421962	missense	possibly damaging	0.93
R6705:Shc1	UTSW	3	89422959	nonsense	probably null
R7379:Shc1	UTSW	3	89426822	missense	probably benign	0.00
R8041:Shc1	UTSW	3	89422953	missense	probably damaging	1.00
R8284:Shc1	UTSW	3	89421908	missense	possibly damaging	0.70
R8700:Shc1	UTSW	3	89427433	missense	possibly damaging	0.92

Posted On

2013-12-09