Incidental Mutation 'IGL02660:Shoc2'
| ID |
302519 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shoc2
|
| Ensembl Gene |
ENSMUSG00000024976 |
| Gene Name |
Shoc2, leucine rich repeat scaffold protein |
| Synonyms |
Sur-8, soc-2 (suppressor of clear) homolog (C. elegans) |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02660
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53932737-54021564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53976452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 114
(I114T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025932]
[ENSMUST00000169861]
|
| AlphaFold |
O88520 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025932
AA Change: I114T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: I114T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
60 |
N/A |
INTRINSIC |
|
LRR
|
122 |
144 |
1.33e-1 |
SMART |
|
LRR
|
145 |
167 |
6.05e0 |
SMART |
|
LRR
|
168 |
190 |
4.7e0 |
SMART |
|
LRR
|
191 |
213 |
7.57e0 |
SMART |
|
LRR
|
214 |
235 |
3.55e1 |
SMART |
|
LRR_TYP
|
237 |
260 |
1.1e-2 |
SMART |
|
low complexity region
|
266 |
278 |
N/A |
INTRINSIC |
|
LRR
|
283 |
306 |
1.62e0 |
SMART |
|
LRR
|
307 |
329 |
3.97e0 |
SMART |
|
LRR
|
330 |
353 |
1.12e2 |
SMART |
|
LRR
|
354 |
377 |
1.22e2 |
SMART |
|
LRR
|
401 |
423 |
8.73e1 |
SMART |
|
LRR
|
424 |
446 |
4.34e-1 |
SMART |
|
LRR
|
447 |
469 |
4.65e-1 |
SMART |
|
LRR
|
470 |
492 |
8.09e-1 |
SMART |
|
LRR
|
493 |
514 |
2.82e0 |
SMART |
|
LRR
|
516 |
540 |
5.89e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169861
AA Change: I114T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: I114T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
60 |
N/A |
INTRINSIC |
|
LRR
|
122 |
144 |
1.33e-1 |
SMART |
|
LRR
|
145 |
167 |
6.05e0 |
SMART |
|
LRR
|
168 |
190 |
4.7e0 |
SMART |
|
LRR
|
191 |
213 |
7.57e0 |
SMART |
|
LRR
|
214 |
235 |
3.55e1 |
SMART |
|
LRR_TYP
|
237 |
260 |
1.1e-2 |
SMART |
|
low complexity region
|
266 |
278 |
N/A |
INTRINSIC |
|
LRR
|
283 |
306 |
1.62e0 |
SMART |
|
LRR
|
307 |
329 |
3.97e0 |
SMART |
|
LRR
|
330 |
353 |
1.12e2 |
SMART |
|
LRR
|
354 |
377 |
1.22e2 |
SMART |
|
LRR
|
401 |
423 |
8.73e1 |
SMART |
|
LRR
|
424 |
446 |
4.34e-1 |
SMART |
|
LRR
|
447 |
469 |
4.65e-1 |
SMART |
|
LRR
|
470 |
492 |
8.09e-1 |
SMART |
|
LRR
|
493 |
514 |
2.82e0 |
SMART |
|
LRR
|
516 |
540 |
5.89e1 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]
PHENOTYPE: Shoc2 is essential for embryonic development, as germline deletion results in early embryonic lethality. Endothelial cell-specific deletion causes defects in cardiac development, and results in late embryonic/early fetal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
A |
G |
15: 12,810,853 (GRCm39) |
L341P |
probably damaging |
Het |
| Abcd3 |
A |
C |
3: 121,577,669 (GRCm39) |
N206K |
probably damaging |
Het |
| Adamtsl1 |
A |
G |
4: 86,150,847 (GRCm39) |
D335G |
probably damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,823,816 (GRCm39) |
M150K |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,115,446 (GRCm39) |
D680G |
probably benign |
Het |
| Asxl3 |
T |
A |
18: 22,657,402 (GRCm39) |
V1804D |
probably damaging |
Het |
| Bace2 |
T |
C |
16: 97,216,340 (GRCm39) |
V311A |
probably damaging |
Het |
| C2cd4c |
T |
A |
10: 79,449,136 (GRCm39) |
T4S |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,090,389 (GRCm39) |
Y456C |
probably damaging |
Het |
| Cbr1 |
A |
G |
16: 93,406,712 (GRCm39) |
S143G |
probably benign |
Het |
| Ccdc191 |
A |
G |
16: 43,780,462 (GRCm39) |
T815A |
probably benign |
Het |
| Cenpf |
T |
A |
1: 189,386,979 (GRCm39) |
Q1767L |
probably damaging |
Het |
| Col6a5 |
A |
C |
9: 105,814,085 (GRCm39) |
N642K |
unknown |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Ephb1 |
A |
T |
9: 101,918,291 (GRCm39) |
I406N |
possibly damaging |
Het |
| F13a1 |
A |
G |
13: 37,127,868 (GRCm39) |
V370A |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,201,257 (GRCm39) |
H401L |
probably damaging |
Het |
| Gp6 |
T |
G |
7: 4,387,997 (GRCm39) |
R157S |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,122,833 (GRCm39) |
T514I |
probably benign |
Het |
| H2ac1 |
T |
C |
13: 24,118,608 (GRCm39) |
V55A |
probably damaging |
Het |
| Mok |
A |
G |
12: 110,794,499 (GRCm39) |
I63T |
probably damaging |
Het |
| Otop1 |
T |
C |
5: 38,445,349 (GRCm39) |
V169A |
probably damaging |
Het |
| Pdzph1 |
T |
A |
17: 59,187,642 (GRCm39) |
T1193S |
probably damaging |
Het |
| Plekha7 |
A |
G |
7: 115,756,809 (GRCm39) |
|
probably benign |
Het |
| Plekhm1 |
A |
T |
11: 103,264,920 (GRCm39) |
|
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,435,787 (GRCm39) |
Y587H |
probably damaging |
Het |
| Scaf1 |
C |
A |
7: 44,661,542 (GRCm39) |
|
probably benign |
Het |
| Sema3f |
A |
T |
9: 107,561,183 (GRCm39) |
F601Y |
probably benign |
Het |
| Skint10 |
T |
A |
4: 112,622,227 (GRCm39) |
|
probably benign |
Het |
| Slc18b1 |
T |
C |
10: 23,686,850 (GRCm39) |
|
probably benign |
Het |
| Slco5a1 |
A |
G |
1: 13,059,860 (GRCm39) |
L287P |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Syncrip |
G |
T |
9: 88,338,457 (GRCm39) |
R536S |
probably benign |
Het |
| Trim5 |
C |
A |
7: 103,915,425 (GRCm39) |
R296L |
probably damaging |
Het |
| Vmn2r60 |
G |
T |
7: 41,791,720 (GRCm39) |
E548* |
probably null |
Het |
| Wdr26 |
A |
T |
1: 181,026,463 (GRCm39) |
W251R |
probably damaging |
Het |
|
| Other mutations in Shoc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02498:Shoc2
|
APN |
19 |
54,016,207 (GRCm39) |
nonsense |
probably null |
|
|
IGL02880:Shoc2
|
APN |
19 |
54,019,525 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03024:Shoc2
|
APN |
19 |
53,991,458 (GRCm39) |
missense |
probably benign |
|
|
R1480:Shoc2
|
UTSW |
19 |
53,976,202 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4400:Shoc2
|
UTSW |
19 |
54,019,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4468:Shoc2
|
UTSW |
19 |
54,014,845 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4765:Shoc2
|
UTSW |
19 |
53,976,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5309:Shoc2
|
UTSW |
19 |
53,976,164 (GRCm39) |
missense |
probably benign |
|
|
R5408:Shoc2
|
UTSW |
19 |
53,976,556 (GRCm39) |
missense |
probably benign |
|
|
R5745:Shoc2
|
UTSW |
19 |
54,018,323 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5991:Shoc2
|
UTSW |
19 |
53,991,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6891:Shoc2
|
UTSW |
19 |
53,976,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7493:Shoc2
|
UTSW |
19 |
53,976,467 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8444:Shoc2
|
UTSW |
19 |
53,976,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Shoc2
|
UTSW |
19 |
53,976,310 (GRCm39) |
missense |
probably benign |
|
|
R9213:Shoc2
|
UTSW |
19 |
54,016,231 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Posted On |
2015-04-16 |
Incidental Mutation