Incidental Mutation 'IGL03029:Shisa6'
ID |
408340 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Shisa6
|
Ensembl Gene |
ENSMUSG00000053930 |
Gene Name |
shisa family member 6 |
Synonyms |
Gm879, CKAMP52, LOC380702 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03029
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
66102551-66416790 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66108839 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 346
(E346V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071025
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066679]
|
AlphaFold |
Q3UH99 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066679
AA Change: E346V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000071025 Gene: ENSMUSG00000053930 AA Change: E346V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
low complexity region
|
80 |
93 |
N/A |
INTRINSIC |
Pfam:Shisa
|
97 |
294 |
6.3e-43 |
PFAM |
low complexity region
|
378 |
389 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000123454
AA Change: E321V
|
SMART Domains |
Protein: ENSMUSP00000120862 Gene: ENSMUSG00000053930 AA Change: E321V
Domain | Start | End | E-Value | Type |
low complexity region
|
24 |
37 |
N/A |
INTRINSIC |
Pfam:Shisa
|
41 |
227 |
2.4e-43 |
PFAM |
low complexity region
|
354 |
365 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144922
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acy1 |
T |
A |
9: 106,312,314 (GRCm39) |
D213V |
probably damaging |
Het |
Akap6 |
T |
C |
12: 52,933,195 (GRCm39) |
L229P |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,669,304 (GRCm39) |
|
probably null |
Het |
Arfgap3 |
C |
T |
15: 83,206,851 (GRCm39) |
E246K |
probably damaging |
Het |
Cadps |
G |
T |
14: 12,376,675 (GRCm38) |
T1274K |
probably damaging |
Het |
Cd46 |
T |
C |
1: 194,768,451 (GRCm39) |
T89A |
probably benign |
Het |
Cylc1 |
A |
C |
X: 110,156,944 (GRCm39) |
|
probably benign |
Het |
Dach2 |
T |
A |
X: 112,724,833 (GRCm39) |
L492* |
probably null |
Het |
Dlc1 |
T |
C |
8: 37,038,416 (GRCm39) |
|
probably null |
Het |
Fanci |
T |
C |
7: 79,093,747 (GRCm39) |
V1033A |
probably benign |
Het |
Fat4 |
T |
C |
3: 39,036,740 (GRCm39) |
I3464T |
possibly damaging |
Het |
Fus |
A |
G |
7: 127,584,712 (GRCm39) |
|
probably benign |
Het |
Garin5b |
G |
T |
7: 4,760,839 (GRCm39) |
N624K |
possibly damaging |
Het |
Hectd3 |
G |
T |
4: 116,854,162 (GRCm39) |
E271* |
probably null |
Het |
Herc2 |
T |
C |
7: 55,818,715 (GRCm39) |
L2802P |
probably damaging |
Het |
Hk2 |
G |
A |
6: 82,715,314 (GRCm39) |
R407C |
probably damaging |
Het |
Josd2 |
T |
C |
7: 44,120,601 (GRCm39) |
S71P |
probably damaging |
Het |
Kif20b |
A |
G |
19: 34,928,313 (GRCm39) |
T1152A |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,762,469 (GRCm39) |
V1229I |
probably benign |
Het |
Nup188 |
T |
C |
2: 30,212,592 (GRCm39) |
|
probably benign |
Het |
Or1i2 |
T |
A |
10: 78,447,792 (GRCm39) |
I228F |
probably benign |
Het |
Pank1 |
T |
A |
19: 34,798,535 (GRCm39) |
I476F |
probably damaging |
Het |
Pdcd6 |
A |
G |
13: 74,457,899 (GRCm39) |
Y91H |
probably damaging |
Het |
Pik3r3 |
T |
G |
4: 116,156,998 (GRCm39) |
V393G |
probably damaging |
Het |
Poglut3 |
T |
C |
9: 53,295,588 (GRCm39) |
|
probably null |
Het |
Prx |
C |
T |
7: 27,207,486 (GRCm39) |
R48* |
probably null |
Het |
Rbm5 |
A |
G |
9: 107,631,652 (GRCm39) |
S222P |
possibly damaging |
Het |
Rev3l |
T |
A |
10: 39,704,482 (GRCm39) |
I302N |
probably benign |
Het |
Rnf139 |
T |
C |
15: 58,770,967 (GRCm39) |
F331L |
probably damaging |
Het |
Shisa4 |
G |
T |
1: 135,300,914 (GRCm39) |
Q119K |
probably damaging |
Het |
Slc6a3 |
A |
T |
13: 73,686,816 (GRCm39) |
E61V |
probably damaging |
Het |
Slc9a7 |
T |
A |
X: 20,157,608 (GRCm39) |
M106L |
probably benign |
Het |
Srek1 |
A |
G |
13: 103,900,468 (GRCm39) |
|
probably benign |
Het |
Strc |
G |
A |
2: 121,194,525 (GRCm39) |
L1788F |
possibly damaging |
Het |
Styk1 |
T |
C |
6: 131,277,523 (GRCm39) |
S284G |
probably benign |
Het |
Top2a |
T |
A |
11: 98,909,625 (GRCm39) |
T158S |
probably benign |
Het |
Vangl1 |
C |
T |
3: 102,091,400 (GRCm39) |
V229M |
probably damaging |
Het |
Vsig1 |
A |
G |
X: 139,827,261 (GRCm39) |
T137A |
possibly damaging |
Het |
|
Other mutations in Shisa6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01538:Shisa6
|
APN |
11 |
66,108,654 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01620:Shisa6
|
APN |
11 |
66,108,705 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02702:Shisa6
|
APN |
11 |
66,110,788 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02810:Shisa6
|
APN |
11 |
66,115,774 (GRCm39) |
missense |
possibly damaging |
0.64 |
R0363:Shisa6
|
UTSW |
11 |
66,416,153 (GRCm39) |
missense |
probably benign |
0.17 |
R1220:Shisa6
|
UTSW |
11 |
66,110,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R1264:Shisa6
|
UTSW |
11 |
66,265,975 (GRCm39) |
splice site |
probably benign |
|
R2495:Shisa6
|
UTSW |
11 |
66,108,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R3962:Shisa6
|
UTSW |
11 |
66,108,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R4449:Shisa6
|
UTSW |
11 |
66,416,244 (GRCm39) |
missense |
probably benign |
0.18 |
R5872:Shisa6
|
UTSW |
11 |
66,108,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6059:Shisa6
|
UTSW |
11 |
66,115,800 (GRCm39) |
missense |
probably damaging |
0.98 |
R6172:Shisa6
|
UTSW |
11 |
66,108,832 (GRCm39) |
missense |
probably benign |
0.28 |
R6849:Shisa6
|
UTSW |
11 |
66,416,327 (GRCm39) |
missense |
probably benign |
0.01 |
R6903:Shisa6
|
UTSW |
11 |
66,265,982 (GRCm39) |
splice site |
probably null |
|
R7282:Shisa6
|
UTSW |
11 |
66,393,480 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7450:Shisa6
|
UTSW |
11 |
66,108,832 (GRCm39) |
missense |
probably benign |
0.28 |
R7985:Shisa6
|
UTSW |
11 |
66,265,990 (GRCm39) |
missense |
|
|
R8449:Shisa6
|
UTSW |
11 |
66,416,556 (GRCm39) |
missense |
probably benign |
0.01 |
R9129:Shisa6
|
UTSW |
11 |
66,110,853 (GRCm39) |
missense |
probably benign |
0.37 |
RF008:Shisa6
|
UTSW |
11 |
66,416,749 (GRCm39) |
unclassified |
probably benign |
|
Z1176:Shisa6
|
UTSW |
11 |
66,266,053 (GRCm39) |
missense |
|
|
Z1187:Shisa6
|
UTSW |
11 |
66,416,533 (GRCm39) |
small insertion |
probably benign |
|
Z1187:Shisa6
|
UTSW |
11 |
66,416,524 (GRCm39) |
small insertion |
probably benign |
|
Z1188:Shisa6
|
UTSW |
11 |
66,416,519 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Shisa6
|
UTSW |
11 |
66,416,535 (GRCm39) |
small insertion |
probably benign |
|
Z1190:Shisa6
|
UTSW |
11 |
66,416,519 (GRCm39) |
small insertion |
probably benign |
|
Z1191:Shisa6
|
UTSW |
11 |
66,416,517 (GRCm39) |
small insertion |
probably benign |
|
|
Posted On |
2016-08-02 |