Incidental Mutation 'IGL02810:Shisa6'
| ID |
360551 |
| 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 # |
IGL02810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
66102551-66416790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 66115774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 288
(T288S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071025
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066679]
|
| AlphaFold |
Q3UH99 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066679
AA Change: T288S
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071025
Gene: ENSMUSG00000053930
AA Change: T288S
| 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: T263S
|
| SMART Domains |
Protein: ENSMUSP00000120862
Gene: ENSMUSG00000053930
AA Change: T263S
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
| Atosb |
C |
A |
4: 43,034,429 (GRCm39) |
V389F |
probably damaging |
Het |
| Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
| Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
| Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
| Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
| Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
| Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,990,997 (GRCm39) |
|
probably benign |
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 |
|
IGL03029:Shisa6
|
APN |
11 |
66,108,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation