Incidental Mutation 'R5297:Shoc1'
| ID |
405461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shoc1
|
| Ensembl Gene |
ENSMUSG00000038598 |
| Gene Name |
shortage in chiasmata 1 |
| Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
| MMRRC Submission |
042880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5297 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59043753-59138983 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59047543 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1359
(W1359R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
| AlphaFold |
A2ALV5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: W1359R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: W1359R
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,587,458 (GRCm38) |
A135S |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,566,698 (GRCm38) |
K307R |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,381,846 (GRCm38) |
E653G |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,121,888 (GRCm38) |
Y273H |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,568,199 (GRCm38) |
R70C |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,591,127 (GRCm38) |
V250M |
possibly damaging |
Het |
| Cacna1c |
T |
G |
6: 118,742,361 (GRCm38) |
D215A |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,822,345 (GRCm38) |
N132Y |
probably damaging |
Het |
| Casp6 |
T |
C |
3: 129,910,555 (GRCm38) |
F97L |
possibly damaging |
Het |
| Ckap2l |
T |
C |
2: 129,285,370 (GRCm38) |
N296S |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 106,074,867 (GRCm38) |
K611E |
probably benign |
Het |
| Copa |
A |
G |
1: 172,113,108 (GRCm38) |
H696R |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,312,204 (GRCm38) |
N283K |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,378,738 (GRCm38) |
V869I |
probably benign |
Het |
| Efemp1 |
G |
T |
11: 28,867,868 (GRCm38) |
G116C |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,460,553 (GRCm38) |
E373G |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 78,086,279 (GRCm38) |
T318A |
probably benign |
Het |
| Gipr |
A |
G |
7: 19,157,544 (GRCm38) |
W403R |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,377,830 (GRCm38) |
T518S |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,875,616 (GRCm38) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,492,758 (GRCm38) |
S393G |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,856,641 (GRCm38) |
L171P |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,738,134 (GRCm38) |
I221T |
probably benign |
Het |
| Itgb2 |
A |
G |
10: 77,564,667 (GRCm38) |
I705V |
probably damaging |
Het |
| Map4k4 |
G |
T |
1: 39,962,217 (GRCm38) |
V55F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 84,913,318 (GRCm38) |
|
probably null |
Het |
| Mitf |
G |
T |
6: 97,994,430 (GRCm38) |
G186V |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,512,290 (GRCm38) |
D100N |
probably benign |
Het |
| Nrcam |
T |
C |
12: 44,544,784 (GRCm38) |
F204L |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,410,218 (GRCm38) |
L218P |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,391,200 (GRCm38) |
M44V |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,395,654 (GRCm38) |
|
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,486,389 (GRCm38) |
V145E |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,927,437 (GRCm38) |
S69P |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,545,404 (GRCm38) |
N291I |
probably damaging |
Het |
| Or5as1 |
T |
C |
2: 87,150,449 (GRCm38) |
I71V |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,676,249 (GRCm38) |
|
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,450,053 (GRCm38) |
Y631N |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,941,151 (GRCm38) |
D106E |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,172,517 (GRCm38) |
D462G |
probably benign |
Het |
| Rnf19a |
A |
G |
15: 36,247,778 (GRCm38) |
S427P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,469,034 (GRCm38) |
Y1376F |
possibly damaging |
Het |
| Spem1 |
A |
G |
11: 69,820,927 (GRCm38) |
Y304H |
probably damaging |
Het |
| Stk38l |
C |
A |
6: 146,775,655 (GRCm38) |
Y450* |
probably null |
Het |
| Stx19 |
A |
G |
16: 62,821,974 (GRCm38) |
E51G |
probably damaging |
Het |
| Ttc41 |
C |
G |
10: 86,776,579 (GRCm38) |
Q1239E |
probably benign |
Het |
| Tuba3a |
C |
T |
6: 125,281,340 (GRCm38) |
R229H |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,876,089 (GRCm38) |
V264D |
probably damaging |
Het |
| V1rd19 |
T |
C |
7: 24,003,289 (GRCm38) |
V60A |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,494,819 (GRCm38) |
V40G |
probably damaging |
Het |
| Vmn1r160 |
C |
T |
7: 22,871,290 (GRCm38) |
Q23* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,191,939 (GRCm38) |
I57V |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,061,873 (GRCm38) |
F802L |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 42,260,222 (GRCm38) |
D57G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,878,131 (GRCm38) |
N260S |
probably damaging |
Het |
| Xirp1 |
C |
A |
9: 120,019,602 (GRCm38) |
A72S |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,929,077 (GRCm38) |
V190A |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 26,979,205 (GRCm38) |
P299L |
probably damaging |
Het |
|
| Other mutations in Shoc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Shoc1
|
APN |
4 |
59,086,961 (GRCm38) |
missense |
probably benign |
|
|
IGL00574:Shoc1
|
APN |
4 |
59,094,201 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01333:Shoc1
|
APN |
4 |
59,047,870 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL02282:Shoc1
|
APN |
4 |
59,111,114 (GRCm38) |
missense |
unknown |
|
|
IGL02418:Shoc1
|
APN |
4 |
59,049,075 (GRCm38) |
splice site |
probably benign |
|
|
IGL02621:Shoc1
|
APN |
4 |
59,062,668 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03028:Shoc1
|
APN |
4 |
59,094,274 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL03112:Shoc1
|
APN |
4 |
59,049,355 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL03137:Shoc1
|
APN |
4 |
59,094,162 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL03220:Shoc1
|
APN |
4 |
59,082,378 (GRCm38) |
nonsense |
probably null |
|
|
IGL03386:Shoc1
|
APN |
4 |
59,069,315 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
1mM(1):Shoc1
|
UTSW |
4 |
59,048,024 (GRCm38) |
nonsense |
probably null |
|
|
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0194:Shoc1
|
UTSW |
4 |
59,066,534 (GRCm38) |
splice site |
probably benign |
|
|
R0366:Shoc1
|
UTSW |
4 |
59,099,410 (GRCm38) |
missense |
probably benign |
0.09 |
|
R0680:Shoc1
|
UTSW |
4 |
59,043,967 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1419:Shoc1
|
UTSW |
4 |
59,064,457 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R1599:Shoc1
|
UTSW |
4 |
59,072,349 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R1699:Shoc1
|
UTSW |
4 |
59,113,926 (GRCm38) |
missense |
unknown |
|
|
R1799:Shoc1
|
UTSW |
4 |
59,099,383 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1832:Shoc1
|
UTSW |
4 |
59,066,441 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1870:Shoc1
|
UTSW |
4 |
59,054,142 (GRCm38) |
splice site |
probably benign |
|
|
R2076:Shoc1
|
UTSW |
4 |
59,082,410 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R2170:Shoc1
|
UTSW |
4 |
59,069,215 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2873:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R3026:Shoc1
|
UTSW |
4 |
59,062,656 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R3079:Shoc1
|
UTSW |
4 |
59,047,848 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R3853:Shoc1
|
UTSW |
4 |
59,047,390 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R3914:Shoc1
|
UTSW |
4 |
59,094,201 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4006:Shoc1
|
UTSW |
4 |
59,076,500 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R4364:Shoc1
|
UTSW |
4 |
59,082,294 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4387:Shoc1
|
UTSW |
4 |
59,060,915 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4454:Shoc1
|
UTSW |
4 |
59,092,383 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4811:Shoc1
|
UTSW |
4 |
59,082,404 (GRCm38) |
missense |
probably benign |
0.19 |
|
R4853:Shoc1
|
UTSW |
4 |
59,072,345 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R4899:Shoc1
|
UTSW |
4 |
59,062,640 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5090:Shoc1
|
UTSW |
4 |
59,111,108 (GRCm38) |
missense |
unknown |
|
|
R5169:Shoc1
|
UTSW |
4 |
59,059,618 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R5400:Shoc1
|
UTSW |
4 |
59,082,432 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R5419:Shoc1
|
UTSW |
4 |
59,049,017 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5668:Shoc1
|
UTSW |
4 |
59,047,399 (GRCm38) |
missense |
probably benign |
|
|
R5770:Shoc1
|
UTSW |
4 |
59,092,466 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5783:Shoc1
|
UTSW |
4 |
59,076,239 (GRCm38) |
nonsense |
probably null |
|
|
R5929:Shoc1
|
UTSW |
4 |
59,092,497 (GRCm38) |
nonsense |
probably null |
|
|
R6209:Shoc1
|
UTSW |
4 |
59,043,869 (GRCm38) |
makesense |
probably null |
|
|
R6230:Shoc1
|
UTSW |
4 |
59,099,345 (GRCm38) |
missense |
probably benign |
|
|
R6233:Shoc1
|
UTSW |
4 |
59,076,245 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6351:Shoc1
|
UTSW |
4 |
59,069,317 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6785:Shoc1
|
UTSW |
4 |
59,049,066 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6884:Shoc1
|
UTSW |
4 |
59,059,652 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7355:Shoc1
|
UTSW |
4 |
59,076,155 (GRCm38) |
missense |
probably benign |
|
|
R7423:Shoc1
|
UTSW |
4 |
59,076,264 (GRCm38) |
missense |
probably benign |
0.27 |
|
R7484:Shoc1
|
UTSW |
4 |
59,062,286 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7560:Shoc1
|
UTSW |
4 |
59,076,140 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R7999:Shoc1
|
UTSW |
4 |
59,094,162 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8198:Shoc1
|
UTSW |
4 |
59,065,174 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8979:Shoc1
|
UTSW |
4 |
59,047,276 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
|
| Posted On |
2016-07-22 |
Incidental Mutation