Incidental Mutation 'R0366:Shoc1'
ID |
36401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
038572-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R0366 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59099410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 94
(M94R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: M94R
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: M94R
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
G |
T |
17: 46,635,724 (GRCm39) |
S93* |
probably null |
Het |
Ackr2 |
T |
C |
9: 121,738,426 (GRCm39) |
L267P |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,099,001 (GRCm39) |
L169* |
probably null |
Het |
Ankrd12 |
T |
A |
17: 66,291,501 (GRCm39) |
S1311C |
possibly damaging |
Het |
Arid2 |
T |
A |
15: 96,259,601 (GRCm39) |
|
probably benign |
Het |
Atp9b |
A |
T |
18: 80,805,317 (GRCm39) |
V747E |
probably damaging |
Het |
Best1 |
T |
C |
19: 9,969,417 (GRCm39) |
|
probably null |
Het |
Brwd1 |
C |
A |
16: 95,839,164 (GRCm39) |
E836* |
probably null |
Het |
Cachd1 |
A |
G |
4: 100,851,934 (GRCm39) |
S1177G |
possibly damaging |
Het |
Cacna1e |
C |
T |
1: 154,291,884 (GRCm39) |
E1766K |
probably benign |
Het |
Cckar |
A |
G |
5: 53,857,507 (GRCm39) |
I301T |
probably benign |
Het |
Cdc27 |
T |
G |
11: 104,396,474 (GRCm39) |
T816P |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,102,537 (GRCm39) |
Q708H |
probably damaging |
Het |
Cep250 |
C |
A |
2: 155,830,321 (GRCm39) |
D1301E |
probably benign |
Het |
D430041D05Rik |
G |
A |
2: 104,085,685 (GRCm39) |
H955Y |
probably damaging |
Het |
Dcdc2a |
T |
A |
13: 25,240,417 (GRCm39) |
V55E |
probably damaging |
Het |
Efcab12 |
A |
G |
6: 115,800,209 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
G |
5: 110,849,537 (GRCm39) |
V1428A |
unknown |
Het |
Erbb3 |
T |
C |
10: 128,408,439 (GRCm39) |
E825G |
possibly damaging |
Het |
Evl |
A |
T |
12: 108,652,307 (GRCm39) |
|
probably null |
Het |
Fuca2 |
G |
A |
10: 13,381,507 (GRCm39) |
R140H |
probably benign |
Het |
Gm5581 |
T |
C |
6: 131,143,410 (GRCm39) |
|
noncoding transcript |
Het |
Gm7052 |
T |
C |
17: 22,259,498 (GRCm39) |
|
probably benign |
Het |
Gpd1 |
T |
G |
15: 99,617,151 (GRCm39) |
I119S |
probably damaging |
Het |
Gzmc |
A |
T |
14: 56,470,193 (GRCm39) |
Y101* |
probably null |
Het |
Hmcn2 |
G |
T |
2: 31,314,218 (GRCm39) |
A3588S |
possibly damaging |
Het |
Ikbkb |
A |
G |
8: 23,185,276 (GRCm39) |
|
probably benign |
Het |
Itgax |
G |
T |
7: 127,748,261 (GRCm39) |
|
probably benign |
Het |
Kif24 |
C |
A |
4: 41,428,717 (GRCm39) |
S81I |
possibly damaging |
Het |
Lct |
G |
A |
1: 128,214,199 (GRCm39) |
P1858S |
probably benign |
Het |
Map2k1 |
C |
A |
9: 64,100,984 (GRCm39) |
|
probably null |
Het |
Mdga1 |
A |
G |
17: 30,076,682 (GRCm39) |
V30A |
possibly damaging |
Het |
Meiosin |
T |
A |
7: 18,840,964 (GRCm39) |
I57F |
probably damaging |
Het |
Mtcl1 |
G |
A |
17: 66,645,124 (GRCm39) |
P1441L |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,963,739 (GRCm39) |
F596Y |
possibly damaging |
Het |
Notch4 |
A |
T |
17: 34,800,473 (GRCm39) |
|
probably benign |
Het |
Or2l5 |
A |
G |
16: 19,333,598 (GRCm39) |
S263P |
probably benign |
Het |
Or4c12 |
A |
C |
2: 89,774,162 (GRCm39) |
V99G |
possibly damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,840 (GRCm39) |
M256T |
possibly damaging |
Het |
Or8b44 |
T |
A |
9: 38,410,450 (GRCm39) |
C162S |
possibly damaging |
Het |
Or8k25 |
A |
G |
2: 86,244,369 (GRCm39) |
V9A |
possibly damaging |
Het |
Pbld2 |
A |
G |
10: 62,889,736 (GRCm39) |
|
probably benign |
Het |
Phip |
T |
C |
9: 82,808,460 (GRCm39) |
Y505C |
probably damaging |
Het |
Plcb2 |
A |
G |
2: 118,554,928 (GRCm39) |
F58L |
probably benign |
Het |
Plcd1 |
T |
A |
9: 118,910,204 (GRCm39) |
I72F |
probably damaging |
Het |
Ppp5c |
A |
T |
7: 16,756,508 (GRCm39) |
Y63* |
probably null |
Het |
Prdm4 |
T |
C |
10: 85,743,868 (GRCm39) |
D129G |
probably damaging |
Het |
Prkcq |
C |
A |
2: 11,251,649 (GRCm39) |
|
probably benign |
Het |
Rab5b |
C |
T |
10: 128,518,772 (GRCm39) |
R120Q |
probably benign |
Het |
Rab7b |
T |
A |
1: 131,626,242 (GRCm39) |
V90D |
probably damaging |
Het |
Ripk3 |
T |
C |
14: 56,024,292 (GRCm39) |
T193A |
probably damaging |
Het |
Rnf167 |
C |
T |
11: 70,540,143 (GRCm39) |
R88* |
probably null |
Het |
Robo1 |
A |
G |
16: 72,539,133 (GRCm39) |
T59A |
possibly damaging |
Het |
Scd2 |
G |
A |
19: 44,289,685 (GRCm39) |
V227I |
probably benign |
Het |
Scg3 |
T |
A |
9: 75,582,620 (GRCm39) |
|
probably benign |
Het |
Sec31a |
A |
T |
5: 100,530,625 (GRCm39) |
L677H |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Setd7 |
T |
C |
3: 51,457,741 (GRCm39) |
T29A |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,272,854 (GRCm39) |
Y942C |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,599,470 (GRCm39) |
Y1027F |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,882,764 (GRCm39) |
|
probably null |
Het |
Tdrd12 |
T |
C |
7: 35,208,227 (GRCm39) |
Q249R |
probably benign |
Het |
Tmem171 |
T |
A |
13: 98,828,736 (GRCm39) |
D138V |
possibly damaging |
Het |
Ttll10 |
G |
A |
4: 156,119,612 (GRCm39) |
R596W |
probably damaging |
Het |
Usp53 |
G |
T |
3: 122,742,850 (GRCm39) |
N695K |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,800,581 (GRCm39) |
L587* |
probably null |
Het |
Zglp1 |
C |
T |
9: 20,974,675 (GRCm39) |
C171Y |
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 |
|
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 |
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'- TGCTGGAACACACCAGGATCAAATC -3'
(R):5'- AGGCCCATTATCCACAGCTCAGTAG -3'
Sequencing Primer
(F):5'- GCAAAAGCTCACAGACATGAAG -3'
(R):5'- CAGCTCAGTAGGAAAAAAAAAACC -3'
|
Posted On |
2013-05-09 |