Incidental Mutation 'R5400:Shoc1'
| ID |
429919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shoc1
|
| Ensembl Gene |
ENSMUSG00000038598 |
| Gene Name |
shortage in chiasmata 1 |
| Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
| MMRRC Submission |
042971-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5400 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59082432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 399
(S399P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
| AlphaFold |
A2ALV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107547
AA Change: S399P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: S399P
| 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 |
0.1492 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (64/65) |
| Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accsl |
T |
C |
2: 93,689,767 (GRCm39) |
D380G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,699,257 (GRCm39) |
L567P |
possibly damaging |
Het |
| Anks1b |
A |
T |
10: 90,348,686 (GRCm39) |
I785L |
probably damaging |
Het |
| Arpc5l |
G |
A |
2: 38,903,747 (GRCm39) |
G79S |
probably benign |
Het |
| Arvcf |
G |
T |
16: 18,217,820 (GRCm39) |
R440L |
probably benign |
Het |
| Atm |
T |
C |
9: 53,414,318 (GRCm39) |
D924G |
probably damaging |
Het |
| Atp8b1 |
A |
T |
18: 64,679,060 (GRCm39) |
|
probably null |
Het |
| Cd19 |
C |
T |
7: 126,013,624 (GRCm39) |
G55D |
probably benign |
Het |
| Cd34 |
A |
G |
1: 194,621,266 (GRCm39) |
|
probably benign |
Het |
| Cd69 |
T |
A |
6: 129,246,954 (GRCm39) |
M88L |
probably benign |
Het |
| Ces2h |
A |
G |
8: 105,745,057 (GRCm39) |
E397G |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,463,036 (GRCm39) |
F1306L |
possibly damaging |
Het |
| Dennd5b |
T |
C |
6: 148,901,514 (GRCm39) |
E1124G |
probably damaging |
Het |
| Dio1 |
A |
T |
4: 107,164,185 (GRCm39) |
M44K |
probably damaging |
Het |
| Elapor2 |
A |
T |
5: 9,529,247 (GRCm39) |
N1027Y |
probably damaging |
Het |
| En1 |
A |
G |
1: 120,531,324 (GRCm39) |
D188G |
probably damaging |
Het |
| Epha10 |
C |
T |
4: 124,807,914 (GRCm39) |
|
probably benign |
Het |
| Fam120b |
A |
T |
17: 15,623,388 (GRCm39) |
L455F |
possibly damaging |
Het |
| Flt4 |
AC |
ACC |
11: 49,541,861 (GRCm39) |
|
probably null |
Het |
| Incenp |
A |
G |
19: 9,855,039 (GRCm39) |
|
probably null |
Het |
| Kansl3 |
A |
G |
1: 36,397,230 (GRCm39) |
V86A |
possibly damaging |
Het |
| Klhl7 |
C |
G |
5: 24,331,918 (GRCm39) |
F73L |
probably damaging |
Het |
| Med28 |
T |
A |
5: 45,682,541 (GRCm39) |
V69D |
probably damaging |
Het |
| Mknk1 |
C |
A |
4: 115,721,749 (GRCm39) |
L98M |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,721,750 (GRCm39) |
L98Q |
probably damaging |
Het |
| Myo3b |
T |
A |
2: 69,935,724 (GRCm39) |
C97S |
probably damaging |
Het |
| Neto1 |
A |
G |
18: 86,414,033 (GRCm39) |
H9R |
possibly damaging |
Het |
| Omd |
A |
T |
13: 49,745,703 (GRCm39) |
E371V |
probably benign |
Het |
| Or1n2 |
A |
T |
2: 36,797,833 (GRCm39) |
I292F |
probably damaging |
Het |
| Or2w3b |
T |
C |
11: 58,623,146 (GRCm39) |
T282A |
possibly damaging |
Het |
| Or4c123 |
T |
C |
2: 89,127,257 (GRCm39) |
D119G |
probably damaging |
Het |
| Or51e2 |
G |
A |
7: 102,391,637 (GRCm39) |
T191I |
probably benign |
Het |
| Osbpl9 |
G |
T |
4: 108,919,497 (GRCm39) |
Y733* |
probably null |
Het |
| Pcdh12 |
A |
T |
18: 38,401,951 (GRCm39) |
S91R |
probably damaging |
Het |
| Pxk |
C |
A |
14: 8,136,911 (GRCm38) |
P144Q |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,620,219 (GRCm39) |
S198P |
probably damaging |
Het |
| Recql |
T |
G |
6: 142,308,073 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,184,712 (GRCm39) |
D1601G |
probably damaging |
Het |
| Scn10a |
T |
C |
9: 119,438,100 (GRCm39) |
D1922G |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,598,974 (GRCm39) |
R1185S |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,278,777 (GRCm39) |
C37* |
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc9a9 |
T |
A |
9: 94,594,954 (GRCm39) |
F155I |
probably damaging |
Het |
| Spef2 |
T |
A |
15: 9,614,367 (GRCm39) |
K1193M |
probably damaging |
Het |
| Swt1 |
T |
C |
1: 151,288,585 (GRCm39) |
T80A |
probably benign |
Het |
| Tmc1 |
A |
G |
19: 20,781,966 (GRCm39) |
I584T |
probably damaging |
Het |
| Tsc22d1 |
C |
A |
14: 76,654,494 (GRCm39) |
F324L |
probably benign |
Het |
| Usp19 |
T |
C |
9: 108,377,392 (GRCm39) |
V1236A |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,635 (GRCm39) |
N301S |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,784,945 (GRCm39) |
V476I |
probably benign |
Het |
| Zbed6 |
G |
A |
1: 133,585,879 (GRCm39) |
T486I |
probably damaging |
Het |
| Zbtb25 |
C |
A |
12: 76,396,476 (GRCm39) |
E249* |
probably null |
Het |
| Zfp54 |
C |
A |
17: 21,653,962 (GRCm39) |
T152K |
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 |
|
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 |
|
|
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'- GCTGAAACACTTTTGTAGGCAG -3'
(R):5'- TGGAGGGATTAACTTCTTGATAGTC -3'
Sequencing Primer
(F):5'- AGAAAGATCTCCAGCTTAGTCTCCTG -3'
(R):5'- GGTAAGTTGCCACACACCTGTAG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation