Mutagenetix > Incidental Mutation

Incidental Mutation 'R7104:Shc3'

551071

Institutional Source

Beutler Lab

Gene Symbol

Shc3

Ensembl Gene

ENSMUSG00000021448

Gene Name

src homology 2 domain-containing transforming protein C3

Synonyms

ShcC, Rai, N-Shc

MMRRC Submission

045196-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7104 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51585077-51723523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51585241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 458 (V458D)

Ref Sequence

ENSEMBL: ENSMUSP00000021898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021898] [ENSMUST00000223543]

AlphaFold

Q61120

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021898
AA Change: V458D

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000021898
Gene: ENSMUSG00000021448
AA Change: V458D

Domain	Start	End	E-Value	Type
PTB	30	194	5.36e-41	SMART
SH2	377	456	6.38e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223543

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl2	A	G	2: 90,627,891 (GRCm39)	E232G	probably damaging	Het
Atf7	A	G	15: 102,442,670 (GRCm39)	S480P	probably benign	Het
Cdk14	A	G	5: 5,245,325 (GRCm39)	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,267,393 (GRCm39)	F358L	probably benign	Het
Cplane1	T	C	15: 8,223,928 (GRCm39)	L897P	possibly damaging	Het
Cytip	A	G	2: 58,049,986 (GRCm39)	S28P	probably benign	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,171,159 (GRCm39)	C480S	probably damaging	Het
Drc7	A	G	8: 95,785,711 (GRCm39)	D189G	probably damaging	Het
Engase	G	A	11: 118,372,121 (GRCm39)	V138M	probably damaging	Het
Esyt3	C	A	9: 99,220,840 (GRCm39)	R121L	probably damaging	Het
Frem1	T	G	4: 82,858,918 (GRCm39)	I1516L	probably benign	Het
Gatad2b	T	A	3: 90,258,724 (GRCm39)	I249N	probably damaging	Het
Grk6	T	C	13: 55,602,219 (GRCm39)	S383P	probably benign	Het
Hectd1	C	T	12: 51,874,134 (GRCm39)		probably null	Het
Hipk2	A	G	6: 38,795,579 (GRCm39)	L230P	probably damaging	Het
Hivep1	A	T	13: 42,310,814 (GRCm39)	Q1018L	probably benign	Het
Itgad	T	C	7: 127,797,550 (GRCm39)	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,702,335 (GRCm39)	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,618,031 (GRCm39)	A486D	possibly damaging	Het
Krt1c	T	C	15: 101,723,522 (GRCm39)	T318A	probably benign	Het
Ndrg1	A	G	15: 66,818,377 (GRCm39)	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nos1	T	A	5: 118,085,496 (GRCm39)	C1275S	probably damaging	Het
Or14a256	T	C	7: 86,264,900 (GRCm39)	S318G	probably null	Het
Or4a69	A	G	2: 89,313,458 (GRCm39)	V7A	possibly damaging	Het
Or5an9	T	C	19: 12,187,242 (GRCm39)	I104T	possibly damaging	Het
Or5d39	T	C	2: 87,979,716 (GRCm39)	T216A	possibly damaging	Het
Or5j3	T	A	2: 86,128,564 (GRCm39)	S135T	probably benign	Het
Or8b12b	A	T	9: 37,684,437 (GRCm39)	N161Y	possibly damaging	Het
Pip4k2b	T	C	11: 97,623,542 (GRCm39)	M67V	possibly damaging	Het
Polq	C	A	16: 36,909,715 (GRCm39)	Y2366*	probably null	Het
Prg3	T	C	2: 84,819,097 (GRCm39)	S8P	probably benign	Het
Prl7c1	A	T	13: 27,962,952 (GRCm39)	L17*	probably null	Het
Prl8a8	A	T	13: 27,695,479 (GRCm39)	S51R	probably damaging	Het
Pttg1	G	C	11: 43,311,976 (GRCm39)	P160A	probably benign	Het
Rbfox1	C	A	16: 7,170,867 (GRCm39)	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,492,988 (GRCm39)	M126L	probably benign	Het
Secisbp2	A	T	13: 51,810,943 (GRCm39)	K202*	probably null	Het
Sema6c	A	G	3: 95,076,156 (GRCm39)	H236R	possibly damaging	Het
Septin12	A	G	16: 4,809,857 (GRCm39)	L181P	probably damaging	Het
Tecta	A	G	9: 42,278,239 (GRCm39)	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,429 (GRCm39)	N998K		Het
Tmem131l	A	T	3: 83,826,766 (GRCm39)	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,647,887 (GRCm39)	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,615,540 (GRCm39)	E348G	probably benign	Het
Unc5c	T	C	3: 141,439,665 (GRCm39)	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,219,045 (GRCm39)	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,577,959 (GRCm39)	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,262,376 (GRCm39)	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,651,253 (GRCm39)	D189G		Het
Vwc2l	C	A	1: 70,768,252 (GRCm39)	C105*	probably null	Het
Wdr72	T	A	9: 74,055,597 (GRCm39)	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,467,549 (GRCm39)	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,672,269 (GRCm39)	H273Y	probably benign	Het
Zwilch	A	G	9: 64,068,658 (GRCm39)	S203P	probably damaging	Het

Other mutations in Shc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Shc3	APN	13	51,615,379 (GRCm39)	missense	probably damaging	0.98
IGL00914:Shc3	APN	13	51,634,263 (GRCm39)	splice site	probably benign
IGL01417:Shc3	APN	13	51,585,200 (GRCm39)	missense	probably benign	0.10
IGL01536:Shc3	APN	13	51,670,595 (GRCm39)	missense	probably damaging	1.00
Massless	UTSW	13	51,597,009 (GRCm39)	missense	possibly damaging	0.92
Singularity	UTSW	13	51,596,856 (GRCm39)	splice site	probably null
R0499:Shc3	UTSW	13	51,634,264 (GRCm39)	splice site	probably benign
R0941:Shc3	UTSW	13	51,634,242 (GRCm39)	missense	probably benign
R1652:Shc3	UTSW	13	51,626,875 (GRCm39)	missense	probably damaging	0.99
R1739:Shc3	UTSW	13	51,636,952 (GRCm39)	missense	probably damaging	0.97
R1750:Shc3	UTSW	13	51,603,328 (GRCm39)	missense	probably damaging	1.00
R1817:Shc3	UTSW	13	51,626,888 (GRCm39)	missense	possibly damaging	0.93
R1848:Shc3	UTSW	13	51,615,424 (GRCm39)	missense	probably damaging	1.00
R1991:Shc3	UTSW	13	51,596,872 (GRCm39)	missense	probably benign	0.01
R2103:Shc3	UTSW	13	51,596,872 (GRCm39)	missense	probably benign	0.01
R4426:Shc3	UTSW	13	51,634,130 (GRCm39)	splice site	probably null
R4434:Shc3	UTSW	13	51,603,302 (GRCm39)	missense	probably benign	0.00
R4823:Shc3	UTSW	13	51,605,606 (GRCm39)	missense	probably benign
R4933:Shc3	UTSW	13	51,596,805 (GRCm39)	missense	probably benign	0.03
R4998:Shc3	UTSW	13	51,596,856 (GRCm39)	splice site	probably null
R5153:Shc3	UTSW	13	51,615,413 (GRCm39)	missense	probably damaging	1.00
R5200:Shc3	UTSW	13	51,670,601 (GRCm39)	missense	probably damaging	1.00
R5659:Shc3	UTSW	13	51,670,630 (GRCm39)	missense	probably damaging	1.00
R6035:Shc3	UTSW	13	51,615,468 (GRCm39)	missense	probably damaging	1.00
R6035:Shc3	UTSW	13	51,615,468 (GRCm39)	missense	probably damaging	1.00
R6346:Shc3	UTSW	13	51,605,651 (GRCm39)	missense	possibly damaging	0.93
R6434:Shc3	UTSW	13	51,603,326 (GRCm39)	missense	probably damaging	1.00
R6457:Shc3	UTSW	13	51,636,915 (GRCm39)	splice site	probably null
R6580:Shc3	UTSW	13	51,596,809 (GRCm39)	missense	probably benign
R6597:Shc3	UTSW	13	51,597,009 (GRCm39)	missense	possibly damaging	0.92
R6906:Shc3	UTSW	13	51,620,595 (GRCm39)	missense	probably damaging	0.97
R7003:Shc3	UTSW	13	51,620,588 (GRCm39)	missense	probably benign	0.14
R7420:Shc3	UTSW	13	51,585,271 (GRCm39)	missense	probably benign	0.02
R7476:Shc3	UTSW	13	51,602,042 (GRCm39)	missense	probably benign
R8312:Shc3	UTSW	13	51,596,754 (GRCm39)	missense	probably damaging	1.00
R8774:Shc3	UTSW	13	51,615,475 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Shc3	UTSW	13	51,615,475 (GRCm39)	missense	probably damaging	1.00
R8850:Shc3	UTSW	13	51,634,248 (GRCm39)	missense	probably benign	0.04
Z1177:Shc3	UTSW	13	51,596,964 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCATGTCTGAATCGTGTGAAC -3'
(R):5'- CCTTTCTGGACCAAGTCAGATG -3'

Sequencing Primer
(F):5'- TTGAACTTGAAGGAAACCTCCCTGG -3'
(R):5'- CTGGACCAAGTCAGATGTTCTAG -3'

Posted On

2019-05-15