Mutagenetix > Incidental Mutation

Incidental Mutation 'R6198:Shc1'

503021

Institutional Source

Beutler Lab

Gene Symbol

Shc1

Ensembl Gene

ENSMUSG00000042626

Gene Name

src homology 2 domain-containing transforming protein C1

Synonyms

ShcA, p66shc, p66

MMRRC Submission

044338-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.969) question?

Stock #

R6198 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89325858-89337336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89329414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 86 (K86R)

Ref Sequence

ENSEMBL: ENSMUSP00000091940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029679] [ENSMUST00000039110] [ENSMUST00000094378] [ENSMUST00000107417] [ENSMUST00000107422] [ENSMUST00000125036] [ENSMUST00000128238] [ENSMUST00000137793] [ENSMUST00000191485] [ENSMUST00000154791] [ENSMUST00000183484]

AlphaFold

P98083

Predicted Effect

probably benign
Transcript: ENSMUST00000029679

SMART Domains

Protein: ENSMUSP00000029679
Gene: ENSMUSG00000028044

Domain	Start	End	E-Value	Type
CKS	5	74	4.1e-48	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000039110

SMART Domains

Protein: ENSMUSP00000035361
Gene: ENSMUSG00000042626

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 benign
Transcript: ENSMUST00000094378
AA Change: K86R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000091940
Gene: ENSMUSG00000042626
AA Change: K86R

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 benign
Transcript: ENSMUST00000107417

SMART Domains

Protein: ENSMUSP00000103040
Gene: ENSMUSG00000042626

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107422

SMART Domains

Protein: ENSMUSP00000103045
Gene: ENSMUSG00000028044

Domain	Start	End	E-Value	Type
CKS	1	52	3.88e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125036

SMART Domains

Protein: ENSMUSP00000115509
Gene: ENSMUSG00000042626

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

noncoding transcript
Transcript: ENSMUST00000153334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146306

Predicted Effect

probably benign
Transcript: ENSMUST00000137793

SMART Domains

Protein: ENSMUSP00000117190
Gene: ENSMUSG00000042626

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191485

SMART Domains

Protein: ENSMUSP00000140336
Gene: ENSMUSG00000042626

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 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 benign
Transcript: ENSMUST00000183484

SMART Domains

Protein: ENSMUSP00000138900
Gene: ENSMUSG00000028044

Domain	Start	End	E-Value	Type
Pfam:CKS	5	36	2.4e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,210,499 (GRCm39)		probably null	Het
2610318N02Rik	A	G	16: 16,936,233 (GRCm39)	S164P	probably damaging	Het
Acsbg3	A	G	17: 57,189,679 (GRCm39)	S265G	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adam19	A	C	11: 46,012,329 (GRCm39)	N275T	probably damaging	Het
Adgrg7	T	A	16: 56,597,556 (GRCm39)	T84S	possibly damaging	Het
Asl	C	T	5: 130,047,757 (GRCm39)	V70I	probably benign	Het
Atp2c1	A	G	9: 105,398,271 (GRCm39)	S26P	probably benign	Het
Bcas3	A	T	11: 85,400,261 (GRCm39)	D410V	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ccdc15	A	C	9: 37,225,581 (GRCm39)		probably null	Het
Cfh	A	G	1: 140,033,178 (GRCm39)	S789P	probably damaging	Het
Cltc	T	C	11: 86,611,188 (GRCm39)	N561S	probably benign	Het
Cnst	A	G	1: 179,420,430 (GRCm39)	Q187R	probably damaging	Het
Csmd3	T	C	15: 48,177,273 (GRCm39)	T422A	probably benign	Het
Cyp2c55	A	T	19: 38,995,565 (GRCm39)	R26*	probably null	Het
Dgkb	A	T	12: 38,223,822 (GRCm39)	M414L	probably benign	Het
Dgkd	A	G	1: 87,851,930 (GRCm39)	D444G	probably damaging	Het
Dipk1b	A	G	2: 26,525,710 (GRCm39)	K215E	probably damaging	Het
Dnmt3c	T	C	2: 153,561,929 (GRCm39)	V544A	noncoding transcript	Het
Dus3l	A	T	17: 57,074,858 (GRCm39)	T327S	possibly damaging	Het
Elf2	A	T	3: 51,184,670 (GRCm39)	L5Q	probably damaging	Het
Fxyd6	A	G	9: 45,301,968 (GRCm39)	Y30C	probably damaging	Het
Gcc2	A	T	10: 58,128,412 (GRCm39)	T1375S	probably benign	Het
Git2	A	T	5: 114,883,556 (GRCm39)	Y393*	probably null	Het
Gm14403	AAACCCTA	AA	2: 177,201,448 (GRCm39)		probably benign	Het
Golgb1	T	C	16: 36,713,757 (GRCm39)	L246P	probably damaging	Het
Grp	G	T	18: 66,013,057 (GRCm39)	Q74H	possibly damaging	Het
Ifi203	A	T	1: 173,751,648 (GRCm39)	M391K	probably damaging	Het
Itih2	A	G	2: 10,103,352 (GRCm39)	Y712H	probably benign	Het
Kdm5a	T	A	6: 120,415,958 (GRCm39)	V1626E	probably benign	Het
Klhl40	A	G	9: 121,607,833 (GRCm39)	Y331C	probably damaging	Het
Kprp	T	A	3: 92,731,994 (GRCm39)	Y352F	probably damaging	Het
Lama2	G	T	10: 27,064,018 (GRCm39)	H1286Q	probably damaging	Het
Lgi4	T	A	7: 30,768,547 (GRCm39)		probably null	Het
Lrrc47	A	T	4: 154,100,129 (GRCm39)	N235I	probably damaging	Het
Lrrc74b	T	A	16: 17,366,650 (GRCm39)	I308F	probably damaging	Het
Map7d1	T	A	4: 126,135,636 (GRCm39)	K135M	probably damaging	Het
Marchf5	A	G	19: 37,188,140 (GRCm39)	R36G	probably damaging	Het
Mtx3	C	A	13: 92,989,359 (GRCm39)	P299Q	probably benign	Het
Muc21	T	A	17: 35,931,808 (GRCm39)		probably benign	Het
Ncapd2	C	A	6: 125,156,286 (GRCm39)	E500*	probably null	Het
Nckap5l	T	C	15: 99,323,869 (GRCm39)	K878R	probably damaging	Het
Nphs1	T	C	7: 30,167,340 (GRCm39)	I756T	probably damaging	Het
Olfm4	T	G	14: 80,237,813 (GRCm39)	S17A	probably benign	Het
Or1j15	A	G	2: 36,458,963 (GRCm39)	M118V	probably damaging	Het
Or4b1	A	T	2: 89,979,782 (GRCm39)	D189E	probably damaging	Het
Pak1ip1	G	T	13: 41,154,886 (GRCm39)	Q27H	probably benign	Het
Piezo2	A	T	18: 63,290,281 (GRCm39)	C159*	probably null	Het
Pkn2	G	T	3: 142,516,165 (GRCm39)	T538K	probably benign	Het
Ppp3cc	A	T	14: 70,485,060 (GRCm39)	M198K	probably benign	Het
Rrm1	T	G	7: 102,095,936 (GRCm39)		probably null	Het
Setd3	T	C	12: 108,131,427 (GRCm39)	K7E	possibly damaging	Het
Slc16a7	T	C	10: 125,064,084 (GRCm39)	T418A	probably benign	Het
Spocd1	C	T	4: 129,849,208 (GRCm39)	P676S	probably damaging	Het
Spp1	A	G	5: 104,587,374 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,252,269 (GRCm39)	Y2462H	probably damaging	Het
Tiam2	T	C	17: 3,464,396 (GRCm39)	S42P	probably benign	Het
Tmem63b	C	T	17: 45,972,442 (GRCm39)	V722I	probably benign	Het
Ubqln1	A	G	13: 58,344,404 (GRCm39)	S130P	probably benign	Het
Usp34	G	T	11: 23,434,127 (GRCm39)	L3215F	probably damaging	Het
Uvssa	A	G	5: 33,566,854 (GRCm39)	Y517C	probably damaging	Het
Vps13d	A	T	4: 144,875,560 (GRCm39)	F1649Y	probably benign	Het
Zfp236	A	G	18: 82,675,278 (GRCm39)	S405P	probably damaging	Het
Zfp9	T	C	6: 118,454,282 (GRCm39)	M1V	probably null	Het
Zfp946	A	T	17: 22,673,896 (GRCm39)	S217C	probably damaging	Het
Zfp970	T	A	2: 177,167,253 (GRCm39)	C276S	probably damaging	Het
Zswim5	T	A	4: 116,735,204 (GRCm39)	F183Y	probably benign	Het

Other mutations in Shc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Shc1	APN	3	89,331,536 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AACCCACTTCGGAATGAGTC -3'
(R):5'- GCTTATTGACAAAGCTCCCGTG -3'

Sequencing Primer
(F):5'- CGGAATGAGTCTCTGTCATCGC -3'
(R):5'- TATTGACAAAGCTCCCGTGTCTGG -3'

Posted On

2018-02-27