Incidental Mutation 'R8198:Shoc1'
ID |
635528 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
067621-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R8198 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59065174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 814
(I814V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: I814V
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: I814V
Domain | Start | End | E-Value | Type |
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
low complexity region
|
543 |
560 |
N/A |
INTRINSIC |
low complexity region
|
908 |
917 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1201 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024B05Rik |
T |
C |
14: 41,825,017 (GRCm39) |
*168R |
probably null |
Het |
Adgrb1 |
C |
A |
15: 74,411,094 (GRCm39) |
T330K |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,307,880 (GRCm39) |
V373A |
probably benign |
Het |
Aoah |
C |
T |
13: 21,101,290 (GRCm39) |
P270L |
probably damaging |
Het |
AU041133 |
C |
G |
10: 81,987,249 (GRCm39) |
P301A |
probably damaging |
Het |
Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
Cd2bp2 |
A |
G |
7: 126,793,576 (GRCm39) |
S204P |
possibly damaging |
Het |
Clca4b |
C |
A |
3: 144,638,167 (GRCm39) |
G32C |
probably damaging |
Het |
Clcn2 |
A |
G |
16: 20,525,946 (GRCm39) |
V808A |
probably damaging |
Het |
Clec4d |
T |
C |
6: 123,244,965 (GRCm39) |
C82R |
probably damaging |
Het |
Dennd1c |
T |
C |
17: 57,373,460 (GRCm39) |
D671G |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,825,145 (GRCm39) |
R691* |
probably null |
Het |
Fcnb |
C |
T |
2: 27,968,330 (GRCm39) |
S209N |
possibly damaging |
Het |
Gm4922 |
T |
C |
10: 18,659,340 (GRCm39) |
T461A |
probably benign |
Het |
Gm9964 |
A |
G |
11: 79,187,405 (GRCm39) |
V14A |
unknown |
Het |
Gnb3 |
T |
C |
6: 124,814,000 (GRCm39) |
Y196C |
probably benign |
Het |
H4c2 |
C |
G |
13: 23,941,283 (GRCm39) |
Q94E |
possibly damaging |
Het |
Hps1 |
C |
T |
19: 42,755,659 (GRCm39) |
R189Q |
probably benign |
Het |
Iars2 |
G |
A |
1: 185,029,703 (GRCm39) |
T638I |
probably benign |
Het |
Itpripl2 |
A |
G |
7: 118,089,819 (GRCm39) |
S247P |
probably damaging |
Het |
Leng8 |
C |
A |
7: 4,147,170 (GRCm39) |
R523S |
possibly damaging |
Het |
Lhfpl3 |
T |
A |
5: 23,478,333 (GRCm39) |
V72D |
probably benign |
Het |
Lmntd2 |
A |
T |
7: 140,791,134 (GRCm39) |
M426K |
possibly damaging |
Het |
Lsg1 |
A |
T |
16: 30,383,594 (GRCm39) |
V542E |
probably benign |
Het |
Mphosph6 |
C |
T |
8: 118,519,449 (GRCm39) |
V108I |
probably benign |
Het |
Mta2 |
A |
G |
19: 8,925,145 (GRCm39) |
T338A |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,580,664 (GRCm39) |
N98S |
probably benign |
Het |
Or52h7 |
T |
A |
7: 104,214,140 (GRCm39) |
D237E |
probably benign |
Het |
Or7a36 |
C |
A |
10: 78,820,443 (GRCm39) |
T273K |
probably benign |
Het |
Or7a42 |
T |
A |
10: 78,791,558 (GRCm39) |
V173E |
probably damaging |
Het |
Pgr |
T |
C |
9: 8,958,411 (GRCm39) |
V806A |
possibly damaging |
Het |
Rad54b |
T |
C |
4: 11,612,440 (GRCm39) |
|
probably null |
Het |
Sdad1 |
A |
T |
5: 92,439,811 (GRCm39) |
C405S |
probably damaging |
Het |
Semp2l2a |
T |
A |
8: 13,887,056 (GRCm39) |
Y345F |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,744,829 (GRCm39) |
I3108V |
probably benign |
Het |
Spink5 |
A |
T |
18: 44,125,947 (GRCm39) |
I409F |
probably benign |
Het |
Syt13 |
C |
A |
2: 92,783,899 (GRCm39) |
L390M |
probably damaging |
Het |
Taf5 |
T |
A |
19: 47,064,212 (GRCm39) |
V385E |
probably damaging |
Het |
Tdrd9 |
T |
A |
12: 112,006,863 (GRCm39) |
V909E |
probably damaging |
Het |
Tex9 |
G |
A |
9: 72,387,940 (GRCm39) |
|
probably benign |
Het |
Timm10b |
G |
T |
7: 105,327,537 (GRCm39) |
E61* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,646,352 (GRCm39) |
F72I |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,219,880 (GRCm39) |
C2206R |
probably benign |
Het |
Uba52rt |
C |
A |
4: 3,973,346 (GRCm39) |
R72L |
probably benign |
Het |
Unc45b |
GC |
G |
11: 82,816,814 (GRCm39) |
|
probably null |
Het |
Unc93b1 |
T |
C |
19: 3,991,910 (GRCm39) |
S215P |
possibly damaging |
Het |
Usp48 |
C |
T |
4: 137,348,470 (GRCm39) |
|
probably benign |
Het |
Vmn1r81 |
A |
G |
7: 11,993,882 (GRCm39) |
V242A |
possibly damaging |
Het |
Zgrf1 |
T |
A |
3: 127,389,673 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Shoc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Shoc1
|
APN |
4 |
59,086,961 (GRCm39) |
missense |
probably benign |
|
IGL00574:Shoc1
|
APN |
4 |
59,094,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01333:Shoc1
|
APN |
4 |
59,047,870 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02282:Shoc1
|
APN |
4 |
59,111,114 (GRCm39) |
missense |
unknown |
|
IGL02418:Shoc1
|
APN |
4 |
59,049,075 (GRCm39) |
splice site |
probably benign |
|
IGL02621:Shoc1
|
APN |
4 |
59,062,668 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03028:Shoc1
|
APN |
4 |
59,094,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03112:Shoc1
|
APN |
4 |
59,049,355 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03137:Shoc1
|
APN |
4 |
59,094,162 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03220:Shoc1
|
APN |
4 |
59,082,378 (GRCm39) |
nonsense |
probably null |
|
IGL03386:Shoc1
|
APN |
4 |
59,069,315 (GRCm39) |
missense |
possibly damaging |
0.66 |
1mM(1):Shoc1
|
UTSW |
4 |
59,048,024 (GRCm39) |
nonsense |
probably null |
|
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0194:Shoc1
|
UTSW |
4 |
59,066,534 (GRCm39) |
splice site |
probably benign |
|
R0366:Shoc1
|
UTSW |
4 |
59,099,410 (GRCm39) |
missense |
probably benign |
0.09 |
R0680:Shoc1
|
UTSW |
4 |
59,043,967 (GRCm39) |
missense |
probably benign |
0.00 |
R1419:Shoc1
|
UTSW |
4 |
59,064,457 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1599:Shoc1
|
UTSW |
4 |
59,072,349 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1699:Shoc1
|
UTSW |
4 |
59,113,926 (GRCm39) |
missense |
unknown |
|
R1799:Shoc1
|
UTSW |
4 |
59,099,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1832:Shoc1
|
UTSW |
4 |
59,066,441 (GRCm39) |
missense |
probably benign |
0.05 |
R1870:Shoc1
|
UTSW |
4 |
59,054,142 (GRCm39) |
splice site |
probably benign |
|
R2076:Shoc1
|
UTSW |
4 |
59,082,410 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2170:Shoc1
|
UTSW |
4 |
59,069,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2873:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R3026:Shoc1
|
UTSW |
4 |
59,062,656 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3079:Shoc1
|
UTSW |
4 |
59,047,848 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3853:Shoc1
|
UTSW |
4 |
59,047,390 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3914:Shoc1
|
UTSW |
4 |
59,094,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4006:Shoc1
|
UTSW |
4 |
59,076,500 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4364:Shoc1
|
UTSW |
4 |
59,082,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4387:Shoc1
|
UTSW |
4 |
59,060,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4454:Shoc1
|
UTSW |
4 |
59,092,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4811:Shoc1
|
UTSW |
4 |
59,082,404 (GRCm39) |
missense |
probably benign |
0.19 |
R4853:Shoc1
|
UTSW |
4 |
59,072,345 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4899:Shoc1
|
UTSW |
4 |
59,062,640 (GRCm39) |
missense |
probably damaging |
0.97 |
R5090:Shoc1
|
UTSW |
4 |
59,111,108 (GRCm39) |
missense |
unknown |
|
R5169:Shoc1
|
UTSW |
4 |
59,059,618 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5297:Shoc1
|
UTSW |
4 |
59,047,543 (GRCm39) |
missense |
probably benign |
|
R5400:Shoc1
|
UTSW |
4 |
59,082,432 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5419:Shoc1
|
UTSW |
4 |
59,049,017 (GRCm39) |
missense |
probably benign |
0.04 |
R5668:Shoc1
|
UTSW |
4 |
59,047,399 (GRCm39) |
missense |
probably benign |
|
R5770:Shoc1
|
UTSW |
4 |
59,092,466 (GRCm39) |
missense |
probably benign |
0.00 |
R5783:Shoc1
|
UTSW |
4 |
59,076,239 (GRCm39) |
nonsense |
probably null |
|
R5929:Shoc1
|
UTSW |
4 |
59,092,497 (GRCm39) |
nonsense |
probably null |
|
R6209:Shoc1
|
UTSW |
4 |
59,043,869 (GRCm39) |
makesense |
probably null |
|
R6230:Shoc1
|
UTSW |
4 |
59,099,345 (GRCm39) |
missense |
probably benign |
|
R6233:Shoc1
|
UTSW |
4 |
59,076,245 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6351:Shoc1
|
UTSW |
4 |
59,069,317 (GRCm39) |
missense |
probably benign |
0.00 |
R6785:Shoc1
|
UTSW |
4 |
59,049,066 (GRCm39) |
missense |
probably benign |
0.01 |
R6884:Shoc1
|
UTSW |
4 |
59,059,652 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7355:Shoc1
|
UTSW |
4 |
59,076,155 (GRCm39) |
missense |
probably benign |
|
R7423:Shoc1
|
UTSW |
4 |
59,076,264 (GRCm39) |
missense |
probably benign |
0.27 |
R7484:Shoc1
|
UTSW |
4 |
59,062,286 (GRCm39) |
missense |
probably damaging |
0.97 |
R7560:Shoc1
|
UTSW |
4 |
59,076,140 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7999:Shoc1
|
UTSW |
4 |
59,094,162 (GRCm39) |
missense |
probably benign |
0.27 |
R8979:Shoc1
|
UTSW |
4 |
59,047,276 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- ATTTGAGCAACTGGAGAATCAAACC -3'
(R):5'- TGATCACTGTGGCAAAACTGTGG -3'
Sequencing Primer
(F):5'- CAATAGAGAAACTGCACTGAGTC -3'
(R):5'- AATTATCCAGCTGGGGCAC -3'
|
Posted On |
2020-07-13 |