Mutagenetix > Incidental Mutation

Incidental Mutation 'R5037:Shc4'

389559

Institutional Source

Beutler Lab

Gene Symbol

Shc4

Ensembl Gene

ENSMUSG00000035109

Gene Name

SHC (Src homology 2 domain containing) family, member 4

Synonyms

6230417E10Rik, 9930029B02Rik, LOC271849

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R5037 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125469367-125566068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125471647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 304 (I304T)

Ref Sequence

ENSEMBL: ENSMUSP00000106106 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042246] [ENSMUST00000089776] [ENSMUST00000110477] [ENSMUST00000110480]

AlphaFold

Q6S5L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000042246
AA Change: I590T

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

SMART Domains

Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109
AA Change: I590T

Domain	Start	End	E-Value	Type
low complexity region	57	68	N/A	INTRINSIC
PTB	187	351	1.38e-34	SMART
SH2	520	599	4.69e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089776

SMART Domains

Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	106	124	N/A	INTRINSIC
coiled coil region	228	481	N/A	INTRINSIC
low complexity region	582	593	N/A	INTRINSIC
coiled coil region	602	651	N/A	INTRINSIC
coiled coil region	692	770	N/A	INTRINSIC
low complexity region	780	793	N/A	INTRINSIC
coiled coil region	835	868	N/A	INTRINSIC
coiled coil region	954	1038	N/A	INTRINSIC
coiled coil region	1205	1277	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110477
AA Change: I304T

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

SMART Domains

Protein: ENSMUSP00000106103
Gene: ENSMUSG00000035109
AA Change: I304T

Domain	Start	End	E-Value	Type
Pfam:PID	1	62	1.7e-19	PFAM
SH2	234	313	4.69e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110480
AA Change: I304T

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

SMART Domains

Protein: ENSMUSP00000106106
Gene: ENSMUSG00000035109
AA Change: I304T

Domain	Start	End	E-Value	Type
Pfam:PID	1	62	1.7e-19	PFAM
SH2	234	313	4.69e-24	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btaf1	T	C	19: 36,980,931 (GRCm39)	V1584A	probably damaging	Het
Ccdc136	A	T	6: 29,417,122 (GRCm39)	S648C	probably damaging	Het
Ccna2	A	G	3: 36,625,152 (GRCm39)		probably benign	Het
Cdc23	C	A	18: 34,784,742 (GRCm39)	V7L	unknown	Het
Cenpf	T	C	1: 189,416,043 (GRCm39)	E94G	probably damaging	Het
Clic1	G	A	17: 35,274,235 (GRCm39)	V139I	probably benign	Het
Coasy	A	G	11: 100,975,648 (GRCm39)	E327G	probably damaging	Het
Col6a5	C	T	9: 105,805,337 (GRCm39)	E1190K	unknown	Het
Cyp2c70	A	G	19: 40,172,441 (GRCm39)	V67A	possibly damaging	Het
Dglucy	A	G	12: 100,801,500 (GRCm39)	S52G	probably benign	Het
Dync1h1	A	G	12: 110,607,341 (GRCm39)	N2644S	probably benign	Het
Eif4g2	A	T	7: 110,676,239 (GRCm39)	N347K	probably benign	Het
Epha10	T	C	4: 124,809,178 (GRCm39)		probably benign	Het
Epm2aip1	T	C	9: 111,101,218 (GRCm39)	F64L	probably benign	Het
Eri2	G	A	7: 119,384,897 (GRCm39)	L535F	probably benign	Het
Garin5b	T	G	7: 4,761,575 (GRCm39)	K379T	possibly damaging	Het
Gm17430	T	C	18: 9,726,561 (GRCm39)	E37G	probably benign	Het
Heatr5b	T	A	17: 79,131,939 (GRCm39)	Q388L	probably benign	Het
Htr1f	A	G	16: 64,746,291 (GRCm39)	W334R	probably damaging	Het
Icam4	A	T	9: 20,940,937 (GRCm39)	C717*	probably null	Het
Iqgap1	A	C	7: 80,383,848 (GRCm39)	L1072W	probably damaging	Het
Kbtbd11	G	T	8: 15,077,886 (GRCm39)	A162S	probably benign	Het
Kif13b	T	G	14: 64,996,038 (GRCm39)	Y941*	probably null	Het
Kndc1	T	C	7: 139,490,371 (GRCm39)	V291A	possibly damaging	Het
Lrrn3	A	T	12: 41,503,594 (GRCm39)	I241N	probably damaging	Het
Macf1	A	G	4: 123,349,312 (GRCm39)	S2387P	probably damaging	Het
Msh5	A	G	17: 35,251,369 (GRCm39)	L451S	possibly damaging	Het
Mthfd1	T	G	12: 76,340,914 (GRCm39)	F258V	probably damaging	Het
Ncstn	C	T	1: 171,896,193 (GRCm39)	R495H	probably damaging	Het
Or4k2	T	G	14: 50,423,745 (GRCm39)	T310P	probably benign	Het
Pkd1l3	T	A	8: 110,392,268 (GRCm39)	I1954N	probably damaging	Het
Ppox	C	A	1: 171,105,169 (GRCm39)	V340L	probably damaging	Het
Prkag1	T	C	15: 98,713,768 (GRCm39)	T21A	possibly damaging	Het
Pygo1	C	A	9: 72,852,199 (GRCm39)	H129N	probably damaging	Het
Rad9a	A	T	19: 4,247,173 (GRCm39)	C271S	probably benign	Het
Raph1	T	C	1: 60,535,381 (GRCm39)		probably null	Het
Reln	A	G	5: 22,153,510 (GRCm39)	F2265L	probably damaging	Het
Slc35f3	T	A	8: 127,116,011 (GRCm39)	L313M	probably damaging	Het
Spata31g1	T	A	4: 42,972,195 (GRCm39)	H509Q	probably benign	Het
Spef1l	A	T	7: 139,558,587 (GRCm39)	S3R	possibly damaging	Het
Sycp2l	T	A	13: 41,283,337 (GRCm39)	M191K	possibly damaging	Het
Tmem132c	C	A	5: 127,630,199 (GRCm39)	Q579K	probably benign	Het
Trbj2-5	A	G	6: 41,520,394 (GRCm39)		probably benign	Het
Ttc38	A	G	15: 85,728,741 (GRCm39)	E231G	probably benign	Het
Utp20	A	G	10: 88,611,192 (GRCm39)	V1375A	probably benign	Het
Vcan	T	A	13: 89,852,096 (GRCm39)	T955S	probably damaging	Het
Vmn1r89	T	C	7: 12,953,314 (GRCm39)	C17R	possibly damaging	Het
Wnk1	A	G	6: 119,942,696 (GRCm39)		probably benign	Het
Zfp667	T	G	7: 6,308,949 (GRCm39)	I539S	possibly damaging	Het
Zfp738	T	A	13: 67,818,320 (GRCm39)	H557L	probably damaging	Het

Other mutations in Shc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02298:Shc4	APN	2	125,491,074 (GRCm39)	missense	probably damaging	0.96
IGL03003:Shc4	APN	2	125,565,253 (GRCm39)	nonsense	probably null
R0167:Shc4	UTSW	2	125,564,933 (GRCm39)	missense	probably benign	0.00
R0784:Shc4	UTSW	2	125,499,416 (GRCm39)	missense	probably benign	0.08
R0959:Shc4	UTSW	2	125,520,607 (GRCm39)	critical splice donor site	probably null
R1099:Shc4	UTSW	2	125,564,764 (GRCm39)	missense	probably benign	0.03
R1864:Shc4	UTSW	2	125,481,287 (GRCm39)	missense	probably damaging	1.00
R2198:Shc4	UTSW	2	125,481,266 (GRCm39)	missense	possibly damaging	0.46
R3791:Shc4	UTSW	2	125,565,251 (GRCm39)	missense	probably damaging	0.97
R4324:Shc4	UTSW	2	125,520,670 (GRCm39)	missense	probably benign	0.23
R4424:Shc4	UTSW	2	125,494,442 (GRCm39)	missense	probably benign
R4611:Shc4	UTSW	2	125,497,602 (GRCm39)	missense	probably benign	0.29
R4745:Shc4	UTSW	2	125,491,197 (GRCm39)	missense	probably damaging	0.96
R5433:Shc4	UTSW	2	125,481,350 (GRCm39)	missense	probably damaging	1.00
R5754:Shc4	UTSW	2	125,512,218 (GRCm39)	missense	probably damaging	1.00
R7795:Shc4	UTSW	2	125,565,285 (GRCm39)	missense	probably damaging	0.99
R8058:Shc4	UTSW	2	125,491,154 (GRCm39)	nonsense	probably null
R8314:Shc4	UTSW	2	125,497,536 (GRCm39)	missense	possibly damaging	0.56
R8396:Shc4	UTSW	2	125,471,617 (GRCm39)	missense	probably damaging	1.00
R8785:Shc4	UTSW	2	125,491,064 (GRCm39)	critical splice donor site	probably null
R9006:Shc4	UTSW	2	125,514,394 (GRCm39)	unclassified	probably benign
R9244:Shc4	UTSW	2	125,497,589 (GRCm39)	nonsense	probably null
R9332:Shc4	UTSW	2	125,520,618 (GRCm39)	missense	probably damaging	1.00
Z1177:Shc4	UTSW	2	125,564,843 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CACTGTTCCTGGCACCAAAG -3'
(R):5'- CGCAATTGCTTACATCTTTCAGAAC -3'

Sequencing Primer
(F):5'- CTGTTCCTGGCACCAAAGGAATATG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'

Posted On

2016-06-06