Incidental Mutation 'R4324:Shc4'
ID |
323945 |
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 |
MMRRC Submission |
041095-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R4324 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
125469367-125566068 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 125520670 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 260
(M260L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043146
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042246]
[ENSMUST00000164756]
|
AlphaFold |
Q6S5L9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042246
AA Change: M260L
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043146 Gene: ENSMUSG00000035109 AA Change: M260L
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: ENSMUST00000164756
|
SMART Domains |
Protein: ENSMUSP00000129413 Gene: ENSMUSG00000091337
Domain | Start | End | E-Value | Type |
low complexity region
|
31 |
58 |
N/A |
INTRINSIC |
low complexity region
|
66 |
85 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
Alg9 |
T |
G |
9: 50,716,643 (GRCm39) |
H22Q |
probably damaging |
Het |
Aqp6 |
G |
A |
15: 99,499,291 (GRCm39) |
M1I |
probably null |
Het |
Arhgef10 |
T |
A |
8: 14,990,335 (GRCm39) |
I270N |
possibly damaging |
Het |
Asb13 |
G |
T |
13: 3,695,012 (GRCm39) |
R160L |
possibly damaging |
Het |
Atg10 |
T |
A |
13: 91,189,085 (GRCm39) |
D75V |
probably damaging |
Het |
Atxn7l2 |
A |
T |
3: 108,113,148 (GRCm39) |
D218E |
probably damaging |
Het |
Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,555,460 (GRCm39) |
I760M |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 5,086,532 (GRCm39) |
K263* |
probably null |
Het |
Cdk5rap2 |
A |
T |
4: 70,271,851 (GRCm39) |
I287N |
probably damaging |
Het |
Cdkn2aip |
A |
T |
8: 48,165,208 (GRCm39) |
S168R |
probably benign |
Het |
Dnah17 |
C |
T |
11: 117,985,039 (GRCm39) |
V1555M |
probably benign |
Het |
Dsel |
T |
C |
1: 111,789,123 (GRCm39) |
T471A |
probably damaging |
Het |
Dzank1 |
T |
C |
2: 144,330,618 (GRCm39) |
E478G |
possibly damaging |
Het |
Enc1 |
T |
C |
13: 97,382,405 (GRCm39) |
F305S |
probably benign |
Het |
Epn1 |
T |
A |
7: 5,100,210 (GRCm39) |
M441K |
probably benign |
Het |
Fbxw24 |
C |
T |
9: 109,434,013 (GRCm39) |
|
probably null |
Het |
Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
H2-K2 |
C |
T |
17: 34,219,014 (GRCm39) |
V30M |
possibly damaging |
Het |
Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,450,182 (GRCm39) |
M505L |
probably benign |
Het |
Man2a1 |
A |
G |
17: 64,973,788 (GRCm39) |
I355V |
probably benign |
Het |
Or5p53 |
C |
T |
7: 107,532,900 (GRCm39) |
P58S |
probably damaging |
Het |
Pcbp3 |
G |
A |
10: 76,599,177 (GRCm39) |
R109* |
probably null |
Het |
Pcgf1 |
T |
C |
6: 83,056,938 (GRCm39) |
|
probably null |
Het |
Plekhm2 |
A |
T |
4: 141,359,168 (GRCm39) |
V533E |
possibly damaging |
Het |
Prss3 |
T |
G |
6: 41,350,779 (GRCm39) |
D237A |
probably benign |
Het |
Rnf125 |
G |
A |
18: 21,110,817 (GRCm39) |
R25K |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Spag6l |
T |
C |
16: 16,605,099 (GRCm39) |
Y151C |
probably benign |
Het |
Stac3 |
C |
T |
10: 127,339,118 (GRCm39) |
P76S |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,169 (GRCm39) |
I255V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,738,923 (GRCm39) |
E3872G |
probably benign |
Het |
Uqcrfs1 |
A |
G |
13: 30,725,141 (GRCm39) |
V133A |
probably benign |
Het |
Vmn2r52 |
T |
A |
7: 9,904,940 (GRCm39) |
T300S |
possibly damaging |
Het |
Wipi1 |
A |
T |
11: 109,494,662 (GRCm39) |
I57N |
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 |
R3791:Shc4
|
UTSW |
2 |
125,565,251 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- CATCAATGTTGGGAAATTTGCC -3'
(R):5'- ATGCGCTTCCATCTCCACAG -3'
Sequencing Primer
(F):5'- CAATGTTGGGAAATTTGCCCTTTTTG -3'
(R):5'- AAGGACCAAGCTTTGATCAAGTC -3'
|
Posted On |
2015-06-24 |