Incidental Mutation 'R5090:Shoc1'
| ID |
387683 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shoc1
|
| Ensembl Gene |
ENSMUSG00000038598 |
| Gene Name |
shortage in chiasmata 1 |
| Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
| MMRRC Submission |
042679-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5090 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59111108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 55
(T55A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
| AlphaFold |
A2ALV5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000107547
AA Change: T55A
|
| SMART Domains |
Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: T55A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122832
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
| Validation Efficiency |
99% (66/67) |
| Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
G |
7: 119,984,422 (GRCm39) |
S1168G |
probably damaging |
Het |
| Acsf2 |
A |
T |
11: 94,462,095 (GRCm39) |
|
probably null |
Het |
| Ankk1 |
G |
T |
9: 49,333,063 (GRCm39) |
S140R |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,960,184 (GRCm39) |
K2305N |
probably damaging |
Het |
| Asnsd1 |
C |
T |
1: 53,391,563 (GRCm39) |
|
probably benign |
Het |
| Atxn7l1 |
T |
C |
12: 33,376,077 (GRCm39) |
S51P |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,920,439 (GRCm39) |
L394P |
probably damaging |
Het |
| Cd200r1 |
T |
A |
16: 44,609,924 (GRCm39) |
S48T |
possibly damaging |
Het |
| Cemip |
T |
C |
7: 83,591,343 (GRCm39) |
E1243G |
probably damaging |
Het |
| Cep192 |
T |
A |
18: 67,993,617 (GRCm39) |
H1977Q |
possibly damaging |
Het |
| Cep250 |
T |
C |
2: 155,818,324 (GRCm39) |
L833P |
probably damaging |
Het |
| Chd9 |
C |
A |
8: 91,753,462 (GRCm39) |
Y1818* |
probably null |
Het |
| Clca3a1 |
C |
A |
3: 144,443,633 (GRCm39) |
V706L |
probably benign |
Het |
| Cntln |
T |
C |
4: 84,865,830 (GRCm39) |
V162A |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
| Cux1 |
T |
A |
5: 136,342,054 (GRCm39) |
N446I |
possibly damaging |
Het |
| Dlg1 |
G |
T |
16: 31,656,902 (GRCm39) |
G599W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,879,648 (GRCm39) |
V969I |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,033,237 (GRCm39) |
C74R |
probably damaging |
Het |
| Fads6 |
T |
A |
11: 115,187,480 (GRCm39) |
T72S |
probably benign |
Het |
| Fra10ac1 |
C |
T |
19: 38,202,873 (GRCm39) |
R110Q |
probably damaging |
Het |
| Gdf3 |
T |
A |
6: 122,586,713 (GRCm39) |
L71F |
probably benign |
Het |
| Gm6685 |
A |
G |
11: 28,289,253 (GRCm39) |
Y188H |
probably benign |
Het |
| Gm6981 |
A |
C |
9: 51,914,142 (GRCm39) |
|
noncoding transcript |
Het |
| Gnpda1 |
T |
C |
18: 38,465,146 (GRCm39) |
T157A |
probably damaging |
Het |
| Grap2 |
A |
C |
15: 80,522,683 (GRCm39) |
N70H |
possibly damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,109 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac5 |
G |
A |
11: 102,088,539 (GRCm39) |
R887C |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,857,435 (GRCm39) |
|
probably benign |
Het |
| Hmgcr |
T |
C |
13: 96,787,098 (GRCm39) |
K162E |
probably benign |
Het |
| Inpp5e |
A |
T |
2: 26,289,383 (GRCm39) |
|
probably null |
Het |
| Kifap3 |
A |
G |
1: 163,683,645 (GRCm39) |
D442G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,675,459 (GRCm39) |
T1015A |
possibly damaging |
Het |
| Lcp2 |
T |
A |
11: 34,039,725 (GRCm39) |
Y508* |
probably null |
Het |
| Map1b |
G |
T |
13: 99,566,534 (GRCm39) |
Y2062* |
probably null |
Het |
| Mipep |
A |
G |
14: 61,039,748 (GRCm39) |
D259G |
possibly damaging |
Het |
| Mmp2 |
T |
C |
8: 93,579,202 (GRCm39) |
F97S |
probably damaging |
Het |
| Mrpl18 |
A |
C |
17: 13,132,697 (GRCm39) |
M144R |
probably damaging |
Het |
| Nek9 |
A |
G |
12: 85,376,616 (GRCm39) |
|
probably null |
Het |
| Nmral1 |
A |
T |
16: 4,532,395 (GRCm39) |
Y139N |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,799,894 (GRCm39) |
C952R |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,801,404 (GRCm39) |
N204D |
probably benign |
Het |
| P2rx4 |
A |
T |
5: 122,863,118 (GRCm39) |
D197V |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,929,338 (GRCm39) |
I615N |
probably damaging |
Het |
| Parp10 |
T |
C |
15: 76,125,925 (GRCm39) |
D421G |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,101,770 (GRCm39) |
D321V |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,270,981 (GRCm39) |
I3191F |
probably damaging |
Het |
| Psmd4 |
T |
C |
3: 94,942,559 (GRCm39) |
N7S |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,361,950 (GRCm39) |
V2084A |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,843,415 (GRCm39) |
E263G |
probably benign |
Het |
| Rbm5 |
A |
G |
9: 107,637,511 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
C |
14: 61,442,702 (GRCm39) |
F1583L |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,357,388 (GRCm39) |
H201Q |
probably benign |
Het |
| Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
| Trim55 |
A |
G |
3: 19,725,771 (GRCm39) |
N313S |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,290 (GRCm39) |
D212E |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,814 (GRCm39) |
E3525G |
possibly damaging |
Het |
| Zfp236 |
T |
C |
18: 82,637,006 (GRCm39) |
T1379A |
probably benign |
Het |
| Zfp553 |
A |
T |
7: 126,834,659 (GRCm39) |
E71D |
probably damaging |
Het |
| Znrf1 |
T |
G |
8: 112,265,035 (GRCm39) |
F21V |
probably benign |
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 |
|
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 |
|
R8198:Shoc1
|
UTSW |
4 |
59,065,174 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8979:Shoc1
|
UTSW |
4 |
59,047,276 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTTTCCCATATTTGCAACTTT -3'
(R):5'- TGTTTGTAAGACAACTTGGTGATATTC -3'
Sequencing Primer
(F):5'- TCTTGTACAGGAGCGCTAAC -3'
(R):5'- GCTGAGATTTGAACTCAGGACCTC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation