Incidental Mutation 'R5745:Shoc2'
| ID |
445771 |
| Institutional Source |
Beutler Lab
|
| 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) |
| MMRRC Submission |
043198-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5745 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
53932737-54021564 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 54018323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 485
(T485K)
|
| 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: T485K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025932
Gene: ENSMUSG00000024976
AA Change: T485K
| 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: T485K
PolyPhen 2
Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000127932
Gene: ENSMUSG00000024976
AA Change: T485K
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,828 (GRCm39) |
R74W |
probably damaging |
Het |
| 4933407L21Rik |
T |
G |
1: 85,858,995 (GRCm39) |
|
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,792,320 (GRCm39) |
I212N |
possibly damaging |
Het |
| Cobll1 |
T |
C |
2: 64,928,801 (GRCm39) |
T879A |
probably damaging |
Het |
| Copb2 |
T |
C |
9: 98,456,164 (GRCm39) |
S233P |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
| Dgcr8 |
A |
T |
16: 18,098,307 (GRCm39) |
N361K |
probably benign |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,107,761 (GRCm39) |
N830K |
probably benign |
Het |
| Ephb1 |
C |
T |
9: 102,072,633 (GRCm39) |
D49N |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,443,238 (GRCm39) |
I514V |
probably benign |
Het |
| Fpr1 |
A |
G |
17: 18,097,344 (GRCm39) |
I215T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,491,565 (GRCm39) |
V3668M |
possibly damaging |
Het |
| Ighv3-4 |
T |
A |
12: 114,217,388 (GRCm39) |
I68L |
probably benign |
Het |
| Intu |
A |
G |
3: 40,647,402 (GRCm39) |
|
probably null |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Mycbp2 |
A |
C |
14: 103,393,889 (GRCm39) |
S2781A |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,172,705 (GRCm39) |
S1211T |
probably benign |
Het |
| Nrp1 |
A |
T |
8: 129,194,929 (GRCm39) |
I462F |
probably benign |
Het |
| Or10d3 |
T |
C |
9: 39,461,987 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6c5c |
T |
A |
10: 129,299,307 (GRCm39) |
I254N |
probably damaging |
Het |
| Pcsk1 |
A |
C |
13: 75,280,079 (GRCm39) |
S635R |
probably benign |
Het |
| Pms1 |
A |
T |
1: 53,246,861 (GRCm39) |
Y280* |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Sema3b |
C |
A |
9: 107,478,628 (GRCm39) |
A356S |
probably damaging |
Het |
| Slc7a7 |
G |
A |
14: 54,615,292 (GRCm39) |
S235L |
possibly damaging |
Het |
| Smcr8 |
A |
T |
11: 60,674,977 (GRCm39) |
T918S |
probably benign |
Het |
| Tafa1 |
G |
A |
6: 96,626,146 (GRCm39) |
R128Q |
probably damaging |
Het |
| Tle3 |
C |
A |
9: 61,322,133 (GRCm39) |
F719L |
probably damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,074 (GRCm39) |
I405L |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
possibly 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 |
|
|
IGL02660:Shoc2
|
APN |
19 |
53,976,452 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCCAAATGCAGTTTGTC -3'
(R):5'- GCTCGCTTTAACTGAACTGC -3'
Sequencing Primer
(F):5'- TGAACGTGAACTAGACTATCTGC -3'
(R):5'- TCGCTTTAACTGAACTGCAAAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation