Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00990:Shc1'

27182

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

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

IGL00990

Quality Score

Status

Chromosome

Chromosomal Location

89325858-89337336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89331536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 154 (S154P)

Ref Sequence

ENSEMBL: ENSMUSP00000140336 (fasta)

Gene Model

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

AlphaFold

P98083

Predicted Effect

probably damaging
Transcript: ENSMUST00000039110
AA Change: S154P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035361
Gene: ENSMUSG00000042626
AA Change: S154P

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: S264P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091940
Gene: ENSMUSG00000042626
AA Change: S264P

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: S109P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103040
Gene: ENSMUSG00000042626
AA Change: S109P

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: S98P

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115509
Gene: ENSMUSG00000042626
AA Change: S98P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128238

SMART Domains

Protein: ENSMUSP00000119293
Gene: ENSMUSG00000042626

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: S154P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117190
Gene: ENSMUSG00000042626
AA Change: S154P

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

probably damaging
Transcript: ENSMUST00000191485
AA Change: S154P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140336
Gene: ENSMUSG00000042626
AA Change: S154P

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

possibly damaging
Transcript: ENSMUST00000154791
AA Change: S114P

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123635
Gene: ENSMUSG00000042626
AA Change: S114P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153334

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: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	C	A	15: 64,694,162 (GRCm39)	V372L	probably benign	Het
Bod1l	T	C	5: 41,986,208 (GRCm39)	D458G	probably benign	Het
Cacna1c	G	T	6: 118,590,256 (GRCm39)	H1416N	probably damaging	Het
Cacna2d1	T	C	5: 16,140,067 (GRCm39)	I19T	probably benign	Het
Cadps	T	A	14: 12,715,374 (GRCm38)	T153S	possibly damaging	Het
Cd200r1	A	T	16: 44,614,672 (GRCm39)	D317V	possibly damaging	Het
Cimap1c	T	C	9: 56,756,341 (GRCm39)	E225G	probably benign	Het
Dcaf5	C	T	12: 80,385,606 (GRCm39)	R840H	probably benign	Het
Dnhd1	A	C	7: 105,370,895 (GRCm39)	H4725P	possibly damaging	Het
Echdc3	C	A	2: 6,200,538 (GRCm39)	L149F	probably benign	Het
Efhb	T	G	17: 53,769,649 (GRCm39)	Q220P	possibly damaging	Het
Efr3b	A	T	12: 4,025,411 (GRCm39)	Y18*	probably null	Het
Eri1	T	C	8: 35,949,836 (GRCm39)	K41R	possibly damaging	Het
Eri1	C	A	8: 35,949,800 (GRCm39)	G53V	probably benign	Het
Gm10212	A	G	19: 11,546,924 (GRCm39)		noncoding transcript	Het
Gm11168	T	G	9: 3,005,124 (GRCm39)	F201C	probably damaging	Het
Gm14412	A	C	2: 177,007,479 (GRCm39)	S139A	probably benign	Het
Gm21411	C	T	4: 146,977,067 (GRCm39)	S69N	possibly damaging	Het
Gm21738	A	G	14: 19,418,885 (GRCm38)	C16R	probably benign	Het
Gm21967	T	A	13: 120,071,071 (GRCm39)		probably benign	Het
Gm4952	A	T	19: 12,600,987 (GRCm39)	D69V	probably damaging	Het
Gm5591	T	G	7: 38,219,838 (GRCm39)	K345T	probably benign	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gm9758	G	A	5: 14,963,522 (GRCm39)		probably benign	Het
Gtse1	C	A	15: 85,753,018 (GRCm39)	Q378K	possibly damaging	Het
Haus3	T	C	5: 34,323,690 (GRCm39)	K307E	probably benign	Het
Hjurp	A	G	1: 88,197,991 (GRCm39)	L96S	probably benign	Het
Ifi205	T	A	1: 173,854,899 (GRCm39)		probably benign	Het
Ighg1	A	G	12: 113,292,804 (GRCm39)	V255A	unknown	Het
Ighv14-4	T	A	12: 114,140,252 (GRCm39)	M49L	probably benign	Het
Jak1	A	C	4: 101,028,554 (GRCm39)	L508R	probably damaging	Het
Kif18a	A	G	2: 109,164,767 (GRCm39)	Q821R	probably benign	Het
Kif21b	T	C	1: 136,080,080 (GRCm39)	S539P	possibly damaging	Het
Klhdc2	T	C	12: 69,353,987 (GRCm39)	V266A	probably benign	Het
Lonp2	G	T	8: 87,368,161 (GRCm39)		probably benign	Het
Mpdz	C	T	4: 81,221,821 (GRCm39)		probably benign	Het
Mroh2a	G	T	1: 88,172,692 (GRCm39)	M823I	probably benign	Het
Mroh2a	G	A	1: 88,161,842 (GRCm39)	G309D	possibly damaging	Het
Mroh2a	G	A	1: 88,158,468 (GRCm39)	E172K	probably damaging	Het
Mtif3	C	A	5: 146,895,914 (GRCm39)	G58*	probably null	Het
Muc4	C	T	16: 32,576,179 (GRCm39)		probably benign	Het
Muc4	C	T	16: 32,575,114 (GRCm39)	P1233L	probably benign	Het
Muc4	G	T	16: 32,575,139 (GRCm39)	K1241N	probably benign	Het
Muc4	G	A	16: 32,575,140 (GRCm39)	G1242R	probably benign	Het
Muc4	T	G	16: 32,753,863 (GRCm38)	N1246K	probably benign	Het
Muc4	A	T	16: 32,753,886 (GRCm38)	E1254V	probably benign	Het
Muc4	C	T	16: 32,752,569 (GRCm38)	P816S	probably benign	Het
Muc4	A	G	16: 32,575,362 (GRCm39)	R1316G	probably benign	Het
Muc4	C	A	16: 32,575,246 (GRCm39)	T1277K	possibly damaging	Het
Muc6	C	T	7: 141,638,890 (GRCm38)	A1957T	possibly damaging	Het
Naca	T	A	10: 127,879,669 (GRCm39)		probably benign	Het
Nars2	A	T	7: 96,651,997 (GRCm39)		probably benign	Het
Or1j14	A	C	2: 36,418,005 (GRCm39)	I194L	probably benign	Het
Or52b3	G	T	7: 102,204,098 (GRCm39)	L202F	probably damaging	Het
Or5b12b	G	T	19: 12,861,265 (GRCm39)	V7L	probably benign	Het
Or6c216	T	C	10: 129,678,342 (GRCm39)	T190A	probably damaging	Het
Pcdh7	G	A	5: 57,877,806 (GRCm39)	E454K	possibly damaging	Het
Pip5kl1	C	A	2: 32,473,359 (GRCm39)	A332D	probably benign	Het
Pisd	A	T	5: 32,896,702 (GRCm39)	S280T	probably benign	Het
Pramel34	T	A	5: 93,784,336 (GRCm39)	Q376L	probably damaging	Het
Pramel5	A	G	4: 144,000,549 (GRCm39)	L9P	probably damaging	Het
Prkd3	G	T	17: 79,261,952 (GRCm39)	N787K	probably benign	Het
Prkdc	A	T	16: 15,519,979 (GRCm39)	H1139L	probably benign	Het
R3hdm1	A	G	1: 128,089,933 (GRCm39)		probably benign	Het
Rbfox2	T	C	15: 76,987,136 (GRCm39)	N206D	probably damaging	Het
Rlf	T	C	4: 121,005,536 (GRCm39)	E1258G	possibly damaging	Het
Rpl8	T	C	15: 76,789,242 (GRCm39)		probably benign	Het
Senp5	A	C	16: 31,809,092 (GRCm39)	V27G	probably benign	Het
Serpina1b	T	A	12: 103,694,525 (GRCm39)	K406N	probably damaging	Het
Sfi1	C	T	11: 3,085,671 (GRCm39)	A853T	probably damaging	Het
Sfi1	T	C	11: 3,093,689 (GRCm39)		probably benign	Het
Sfi1	G	A	11: 3,084,337 (GRCm39)	A975V	probably benign	Het
Sirpd	C	T	3: 15,397,205 (GRCm39)		probably null	Het
Skint5	A	G	4: 113,400,070 (GRCm39)		probably null	Het
Slc17a8	T	C	10: 89,412,392 (GRCm39)	D531G	probably benign	Het
Slc4a10	A	C	2: 62,117,284 (GRCm39)	T718P	probably damaging	Het
Slc7a11	C	T	3: 50,333,518 (GRCm39)	R411Q	probably damaging	Het
Slitrk3	A	G	3: 72,957,414 (GRCm39)	F453L	probably damaging	Het
Slk	A	C	19: 47,568,691 (GRCm39)	Q20P	probably damaging	Het
Smg5	T	C	3: 88,250,345 (GRCm39)		probably null	Het
Sp110	G	A	1: 85,514,002 (GRCm39)	R252C	possibly damaging	Het
Sp140	G	A	1: 85,553,854 (GRCm39)	R231K	probably benign	Het
Sp140	C	T	1: 85,553,886 (GRCm39)	R242C	possibly damaging	Het
Speer4a3	A	C	5: 26,159,222 (GRCm39)	W41G	probably benign	Het
Speer4b	G	A	5: 27,706,272 (GRCm39)	P30S	probably damaging	Het
Spef1l	A	C	7: 139,558,016 (GRCm39)	V60G	probably damaging	Het
Stim1	T	A	7: 102,075,954 (GRCm39)	H395Q	probably damaging	Het
Sult2a1	T	C	7: 13,537,961 (GRCm39)	I187M	probably benign	Het
Thap1	G	A	8: 26,652,759 (GRCm39)	D189N	probably benign	Het
Thap1	C	T	8: 26,650,910 (GRCm39)	P37L	possibly damaging	Het
Thrap3	C	T	4: 126,059,188 (GRCm39)		probably benign	Het
Tmem132d	C	T	5: 127,861,896 (GRCm39)	V742I	possibly damaging	Het
Tmprss9	A	G	10: 80,728,126 (GRCm39)	D572G	possibly damaging	Het
Tmtc1	T	G	6: 148,345,442 (GRCm39)	T86P	probably benign	Het
Trip12	A	T	1: 84,729,605 (GRCm39)	N1026K	probably damaging	Het
Ttll5	T	A	12: 85,923,363 (GRCm39)	V280E	probably damaging	Het
Ubn2	T	A	6: 38,459,540 (GRCm39)	D592E	possibly damaging	Het
Ubr1	T	G	2: 120,761,353 (GRCm39)	H608P	probably damaging	Het
Ugt1a6b	A	T	1: 88,142,900 (GRCm39)		probably null	Het
Vmn1r77	C	A	7: 11,775,695 (GRCm39)	S89Y	probably benign	Het
Vmn1r77	A	C	7: 11,775,403 (GRCm39)	I60L	probably benign	Het
Vmn2r114	G	A	17: 23,509,939 (GRCm39)	A847V	probably benign	Het
Vmn2r114	A	T	17: 23,510,212 (GRCm39)	L756Q	probably damaging	Het
Vmn2r114	G	T	17: 23,509,957 (GRCm39)	S841Y	probably benign	Het
Vmn2r115	G	A	17: 23,578,753 (GRCm39)	G742D	probably damaging	Het
Vmn2r115	C	T	17: 23,565,238 (GRCm39)	S375F	probably benign	Het
Vmn2r115	A	G	17: 23,575,934 (GRCm39)	M511V	probably benign	Het
Vmn2r115	A	G	17: 23,565,346 (GRCm39)	Q411R	probably benign	Het
Vmn2r115	C	T	17: 23,565,345 (GRCm39)	Q411*	probably null	Het
Vmn2r115	C	T	17: 23,578,371 (GRCm39)	P615S	probably damaging	Het
Vmn2r115	A	G	17: 23,565,135 (GRCm39)	N341D	probably benign	Het
Vmn2r115	G	A	17: 23,565,252 (GRCm39)	E380K	probably benign	Het
Vmn2r115	A	C	17: 23,565,313 (GRCm39)	N400T	probably damaging	Het
Vmn2r115	T	A	17: 23,578,798 (GRCm39)	L757Q	probably damaging	Het
Vmn2r115	G	T	17: 23,567,008 (GRCm39)	G507*	probably null	Het
Vmn2r115	A	T	17: 23,565,180 (GRCm39)	M356L	possibly damaging	Het
Vmn2r115	C	T	17: 23,565,150 (GRCm39)	P346S	probably benign	Het
Vmn2r115	G	T	17: 23,578,323 (GRCm39)	A599S	probably benign	Het
Vmn2r116	C	T	17: 23,606,210 (GRCm39)	S374F	probably benign	Het
Vmn2r116	C	T	17: 23,616,701 (GRCm39)	P540S	probably damaging	Het
Vmn2r117	T	G	17: 23,694,403 (GRCm39)	K481N	probably damaging	Het
Vmn2r117	C	T	17: 23,696,814 (GRCm39)	A198T	probably damaging	Het
Vmn2r117	A	C	17: 23,698,520 (GRCm39)	S18A	probably benign	Het
Vmn2r121	T	G	X: 123,037,499 (GRCm39)	K840N	probably benign	Het
Vmn2r121	C	T	X: 123,043,413 (GRCm39)	E73K	probably benign	Het
Vmn2r121	T	A	X: 123,037,480 (GRCm39)	N847Y	possibly damaging	Het
Vmn2r125	T	A	4: 156,703,521 (GRCm39)	L300M	probably benign	Het
Vmn2r125	A	T	4: 156,703,332 (GRCm39)	T237S	probably benign	Het
Vmn2r125	C	T	4: 156,703,333 (GRCm39)	T237I	probably benign	Het
Vmn2r125	C	A	4: 156,703,194 (GRCm39)	Q191K	probably benign	Het
Vmn2r125	A	C	4: 156,703,195 (GRCm39)	Q191P	probably benign	Het
Vmn2r125	T	C	4: 156,703,261 (GRCm39)	V213A	probably benign	Het
Vmn2r125	T	C	4: 156,703,678 (GRCm39)	M352T	probably benign	Het
Vmn2r129	C	A	4: 156,690,730 (GRCm39)		noncoding transcript	Het
Vmn2r129	A	T	4: 156,690,441 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	G	4: 156,690,779 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	G	4: 156,686,857 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r129	T	C	4: 156,686,558 (GRCm39)		noncoding transcript	Het
Vmn2r129	G	T	4: 156,690,755 (GRCm39)		noncoding transcript	Het
Vmn2r88	A	G	14: 51,650,582 (GRCm39)	I98M	probably benign	Het
Vmn2r88	C	T	14: 51,654,259 (GRCm39)	P539L	possibly damaging	Het
Vmn2r88	T	C	14: 51,650,713 (GRCm39)	I142T	probably benign	Het
Vmn2r88	T	C	14: 51,650,517 (GRCm39)	F77L	probably benign	Het
Vmn2r89	A	C	14: 51,693,428 (GRCm39)	Q259H	probably benign	Het
Vmn2r89	T	G	14: 51,694,950 (GRCm39)	L477V	probably benign	Het
Zfp180	C	T	7: 23,804,255 (GRCm39)	R225C	probably benign	Het
Zfp180	G	A	7: 23,803,841 (GRCm39)	C85Y	possibly damaging	Het
Zfp180	G	A	7: 23,804,420 (GRCm39)	V280M	possibly damaging	Het
Zfp982	G	A	4: 147,596,826 (GRCm39)	C61Y	probably benign	Het

Other mutations in Shc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01608:Shc1	APN	3	89,332,156 (GRCm39)	missense	probably damaging	0.96
IGL02710:Shc1	APN	3	89,331,917 (GRCm39)	splice site	probably null
PIT4382001:Shc1	UTSW	3	89,334,715 (GRCm39)	missense	probably benign	0.00
R0323:Shc1	UTSW	3	89,331,020 (GRCm39)	missense	probably damaging	0.98
R0445:Shc1	UTSW	3	89,333,844 (GRCm39)	missense	probably damaging	1.00
R0827:Shc1	UTSW	3	89,334,090 (GRCm39)	splice site	probably null
R0833:Shc1	UTSW	3	89,330,276 (GRCm39)	missense	probably damaging	1.00
R0836:Shc1	UTSW	3	89,330,276 (GRCm39)	missense	probably damaging	1.00
R1155:Shc1	UTSW	3	89,332,126 (GRCm39)	missense	probably benign	0.30
R1497:Shc1	UTSW	3	89,335,752 (GRCm39)	makesense	probably null
R1929:Shc1	UTSW	3	89,330,849 (GRCm39)	missense	probably damaging	1.00
R2271:Shc1	UTSW	3	89,330,849 (GRCm39)	missense	probably damaging	1.00
R4402:Shc1	UTSW	3	89,333,985 (GRCm39)	missense	probably benign
R4965:Shc1	UTSW	3	89,334,303 (GRCm39)	missense	probably damaging	0.98
R5898:Shc1	UTSW	3	89,334,274 (GRCm39)	nonsense	probably null
R6198:Shc1	UTSW	3	89,329,414 (GRCm39)	missense	probably benign
R6604:Shc1	UTSW	3	89,329,186 (GRCm39)	missense	probably damaging	1.00
R6673:Shc1	UTSW	3	89,329,269 (GRCm39)	missense	possibly damaging	0.93
R6705:Shc1	UTSW	3	89,330,266 (GRCm39)	nonsense	probably null
R7379:Shc1	UTSW	3	89,334,129 (GRCm39)	missense	probably benign	0.00
R8041:Shc1	UTSW	3	89,330,260 (GRCm39)	missense	probably damaging	1.00
R8284:Shc1	UTSW	3	89,329,215 (GRCm39)	missense	possibly damaging	0.70
R8700:Shc1	UTSW	3	89,334,740 (GRCm39)	missense	possibly damaging	0.92

Posted On

2013-04-17