Incidental Mutation 'IGL03028:Shoc1'
ID |
408306 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
IGL03028
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 59094274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 150
(I150S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107547
AA Change: I150S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: I150S
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: ENSMUST00000120981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122832
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acat1 |
A |
C |
9: 53,506,062 (GRCm39) |
V86G |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,174,194 (GRCm39) |
W115R |
probably benign |
Het |
Ahr |
G |
A |
12: 35,554,709 (GRCm39) |
A470V |
probably benign |
Het |
Aoah |
A |
T |
13: 21,000,752 (GRCm39) |
Q62L |
possibly damaging |
Het |
Arhgef12 |
A |
T |
9: 42,937,524 (GRCm39) |
D100E |
possibly damaging |
Het |
Asic1 |
A |
G |
15: 99,570,038 (GRCm39) |
N120D |
probably benign |
Het |
Atp2b2 |
A |
G |
6: 113,736,103 (GRCm39) |
L988P |
probably damaging |
Het |
Atxn2 |
T |
A |
5: 121,948,972 (GRCm39) |
H789Q |
probably damaging |
Het |
Clk1 |
G |
T |
1: 58,460,261 (GRCm39) |
S123* |
probably null |
Het |
Col10a1 |
C |
T |
10: 34,271,012 (GRCm39) |
A328V |
probably benign |
Het |
Col26a1 |
G |
T |
5: 136,771,972 (GRCm39) |
D415E |
possibly damaging |
Het |
Ctla2a |
A |
G |
13: 61,083,273 (GRCm39) |
|
probably benign |
Het |
Cwf19l2 |
A |
G |
9: 3,430,622 (GRCm39) |
E318G |
probably benign |
Het |
Dnajc16 |
C |
T |
4: 141,495,043 (GRCm39) |
W523* |
probably null |
Het |
Ehhadh |
T |
C |
16: 21,581,144 (GRCm39) |
E616G |
probably damaging |
Het |
F5 |
A |
T |
1: 164,020,569 (GRCm39) |
K1015* |
probably null |
Het |
Fam78a |
A |
G |
2: 31,972,894 (GRCm39) |
W9R |
possibly damaging |
Het |
Frs2 |
A |
T |
10: 116,909,838 (GRCm39) |
M508K |
possibly damaging |
Het |
Gm3164 |
A |
T |
14: 4,440,111 (GRCm38) |
M200L |
probably benign |
Het |
Gm44511 |
T |
C |
6: 128,757,358 (GRCm39) |
S179G |
probably damaging |
Het |
Gpr25 |
G |
A |
1: 136,188,550 (GRCm39) |
S21L |
probably benign |
Het |
Hsdl2 |
A |
G |
4: 59,594,471 (GRCm39) |
D34G |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,799,215 (GRCm39) |
|
probably null |
Het |
Kl |
A |
G |
5: 150,915,015 (GRCm39) |
Y914C |
probably damaging |
Het |
Map3k3 |
T |
G |
11: 106,001,577 (GRCm39) |
V45G |
probably damaging |
Het |
Mppe1 |
A |
C |
18: 67,360,755 (GRCm39) |
C261W |
probably damaging |
Het |
Nin |
T |
C |
12: 70,082,044 (GRCm39) |
T1640A |
probably benign |
Het |
Or51a8 |
T |
A |
7: 102,550,036 (GRCm39) |
I154N |
possibly damaging |
Het |
Or51ac3 |
A |
G |
7: 103,213,796 (GRCm39) |
|
probably null |
Het |
Or5c1 |
C |
T |
2: 37,221,968 (GRCm39) |
L70F |
probably damaging |
Het |
Or5p59 |
T |
A |
7: 107,703,380 (GRCm39) |
M288K |
probably damaging |
Het |
Or7g26 |
A |
T |
9: 19,230,664 (GRCm39) |
Y284F |
probably damaging |
Het |
Oxr1 |
A |
G |
15: 41,680,559 (GRCm39) |
N166D |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,054,442 (GRCm39) |
|
probably benign |
Het |
Pgd |
A |
G |
4: 149,246,084 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
C |
T |
13: 6,624,429 (GRCm39) |
H831Y |
probably benign |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Rad51 |
A |
C |
2: 118,946,795 (GRCm39) |
M1L |
possibly damaging |
Het |
Recql5 |
G |
T |
11: 115,785,257 (GRCm39) |
S746R |
possibly damaging |
Het |
Rhbdl3 |
C |
T |
11: 80,214,287 (GRCm39) |
Q133* |
probably null |
Het |
Rpp40 |
A |
T |
13: 36,088,494 (GRCm39) |
L59Q |
probably damaging |
Het |
Rtca |
C |
A |
3: 116,286,741 (GRCm39) |
|
probably benign |
Het |
Rtkn |
C |
T |
6: 83,124,853 (GRCm39) |
Q108* |
probably null |
Het |
Sirt6 |
C |
T |
10: 81,463,375 (GRCm39) |
|
probably benign |
Het |
Slc9a4 |
G |
A |
1: 40,649,537 (GRCm39) |
V517M |
probably benign |
Het |
Smarca2 |
G |
T |
19: 26,655,712 (GRCm39) |
|
probably benign |
Het |
Snx33 |
A |
T |
9: 56,833,735 (GRCm39) |
D111E |
probably benign |
Het |
Tgfb1 |
T |
C |
7: 25,403,621 (GRCm39) |
I311T |
probably damaging |
Het |
Tgfb2 |
C |
T |
1: 186,362,806 (GRCm39) |
|
probably null |
Het |
Tmem232 |
T |
C |
17: 65,563,384 (GRCm39) |
T670A |
probably benign |
Het |
Tnfsf4 |
T |
C |
1: 161,223,213 (GRCm39) |
F21L |
possibly damaging |
Het |
Ubr5 |
T |
C |
15: 38,047,837 (GRCm39) |
T47A |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,139,785 (GRCm39) |
V2515A |
possibly damaging |
Het |
Utp6 |
T |
C |
11: 79,844,450 (GRCm39) |
K192E |
probably damaging |
Het |
Vmn2r102 |
T |
C |
17: 19,914,328 (GRCm39) |
F631S |
possibly damaging |
Het |
Zfp516 |
A |
C |
18: 82,974,038 (GRCm39) |
I79L |
possibly damaging |
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 |
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 |
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 |
|
Posted On |
2016-08-02 |