Mutagenetix > Incidental Mutation

Incidental Mutation 'R3791:Shc4'

272517

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 #

R3791 (G1)

Quality Score

137

Status

Not validated

Chromosome

Chromosomal Location

125469367-125566068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125565251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 16 (V16E)

Ref Sequence

ENSEMBL: ENSMUSP00000043146 (fasta)

Gene Model

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

AlphaFold

Q6S5L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000042246
AA Change: V16E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109
AA Change: V16E

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

noncoding transcript
Transcript: ENSMUST00000157002

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	AGGTGGTGGTGGTGGTGGTGGTGG	AGGTGGTGGTGGTGGTGGTGG	6: 132,603,479 (GRCm39)		probably benign	Het
A930009A15Rik	A	T	10: 115,414,194 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,741,221 (GRCm39)	Y81C	probably damaging	Het
Alx3	A	T	3: 107,508,022 (GRCm39)	Y177F	probably damaging	Het
C6	A	G	15: 4,764,717 (GRCm39)	T138A	probably benign	Het
Cacna2d3	T	C	14: 28,905,538 (GRCm39)	M410V	probably benign	Het
Ccn4	A	G	15: 66,791,137 (GRCm39)	Y313C	probably damaging	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Cnrip1	C	T	11: 17,004,845 (GRCm39)		probably benign	Het
Col6a5	A	C	9: 105,741,868 (GRCm39)	D2350E	probably damaging	Het
Cyp4a12b	A	G	4: 115,292,167 (GRCm39)	I407V	probably benign	Het
Gpx4	A	G	10: 79,892,023 (GRCm39)	I245V	probably benign	Het
H2-K2	A	G	17: 34,218,499 (GRCm39)	I139T	probably benign	Het
Hmgcl	A	G	4: 135,687,298 (GRCm39)	K191R	probably benign	Het
Hpdl	A	G	4: 116,677,729 (GRCm39)	V244A	possibly damaging	Het
Hpse	A	G	5: 100,840,104 (GRCm39)	S338P	probably damaging	Het
Ifi203	T	C	1: 173,762,646 (GRCm39)	K162R	possibly damaging	Het
Kit	A	G	5: 75,799,810 (GRCm39)	N514S	probably damaging	Het
Kmt2d	G	A	15: 98,742,030 (GRCm39)		probably benign	Het
Limd1	T	A	9: 123,309,439 (GRCm39)	S379R	possibly damaging	Het
Llph	A	G	10: 120,064,060 (GRCm39)	K59E	probably benign	Het
Lrrc7	T	A	3: 157,869,593 (GRCm39)	M709L	probably benign	Het
Muc5ac	A	G	7: 141,352,238 (GRCm39)	S665G	probably benign	Het
Ncapd3	C	T	9: 26,963,931 (GRCm39)	H524Y	probably benign	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Or51s1	T	C	7: 102,558,239 (GRCm39)	D269G	probably benign	Het
Phtf2	T	C	5: 20,987,296 (GRCm39)	E400G	probably damaging	Het
Pkd1l3	T	C	8: 110,362,949 (GRCm39)	V1080A	probably damaging	Het
Plch1	A	T	3: 63,606,944 (GRCm39)	H1007Q	probably benign	Het
Prr5	T	C	15: 84,565,417 (GRCm39)	S3P	probably damaging	Het
Qtrt1	G	A	9: 21,330,636 (GRCm39)	D279N	probably damaging	Het
Rundc1	G	A	11: 101,325,027 (GRCm39)	A578T	probably damaging	Het
Sik3	A	T	9: 46,106,120 (GRCm39)	L329F	possibly damaging	Het
Slc36a3	A	G	11: 55,015,982 (GRCm39)	S391P	possibly damaging	Het
Smad1	C	A	8: 80,066,399 (GRCm39)	R426L	probably damaging	Het
Tent4b	G	A	8: 88,969,957 (GRCm39)	E210K	probably damaging	Het
Thrap3	A	T	4: 126,061,293 (GRCm39)	N820K	possibly damaging	Het
Tnrc6b	T	C	15: 80,807,841 (GRCm39)	S1598P	probably damaging	Het
Ttn	T	C	2: 76,545,168 (GRCm39)	I32645V	probably damaging	Het
Zfp266	A	C	9: 20,410,777 (GRCm39)	Y467D	probably damaging	Het
Zfp526	T	A	7: 24,925,628 (GRCm39)	M629K	probably damaging	Het
Zfp788	A	T	7: 41,299,152 (GRCm39)	H596L	probably damaging	Het
Zhx3	A	G	2: 160,622,368 (GRCm39)	W600R	possibly 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
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
R5037:Shc4	UTSW	2	125,471,647 (GRCm39)	missense	probably damaging	1.00
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'- CCATACGGGGAATCAAGGTG -3'
(R):5'- ACTGTCATCCTTGAGCAGTC -3'

Sequencing Primer
(F):5'- ATCAAGGTGCACAGCGC -3'
(R):5'- ATCCTTGAGCAGTCTCGGAC -3'

Posted On

2015-03-25