Incidental Mutation 'IGL02998:Shisa3'
ID |
407211 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Shisa3
|
Ensembl Gene |
ENSMUSG00000050010 |
Gene Name |
shisa family member 3 |
Synonyms |
D830007B15Rik, mShisa3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02998
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
67765226-67771330 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67765848 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 33
(D33G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138599
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087241]
[ENSMUST00000142843]
|
AlphaFold |
Q3UPR0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087241
AA Change: D33G
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000084494 Gene: ENSMUSG00000050010 AA Change: D33G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Shisa
|
25 |
202 |
6.7e-57 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000142843
AA Change: D33G
PolyPhen 2
Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000138599 Gene: ENSMUSG00000050010 AA Change: D33G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
Pfam:Shisa
|
23 |
100 |
2.6e-24 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200753
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and apparently normal with no defects in head development. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb2 |
C |
T |
4: 129,912,862 (GRCm39) |
A1329V |
probably benign |
Het |
Bhlha9 |
G |
A |
11: 76,563,570 (GRCm39) |
A66T |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,551,259 (GRCm39) |
R681W |
probably damaging |
Het |
Dst |
T |
C |
1: 34,307,356 (GRCm39) |
L1433P |
probably damaging |
Het |
Ercc6 |
A |
G |
14: 32,279,814 (GRCm39) |
I610V |
probably benign |
Het |
Fras1 |
T |
C |
5: 96,850,040 (GRCm39) |
F1859S |
possibly damaging |
Het |
Gad1 |
A |
G |
2: 70,420,163 (GRCm39) |
Y349C |
probably damaging |
Het |
Galnt1 |
T |
A |
18: 24,397,469 (GRCm39) |
I190N |
probably damaging |
Het |
Gm28042 |
G |
A |
2: 119,870,635 (GRCm39) |
V768I |
possibly damaging |
Het |
Gm8220 |
T |
C |
14: 44,525,765 (GRCm39) |
|
probably null |
Het |
Higd1a |
A |
G |
9: 121,678,690 (GRCm39) |
|
probably benign |
Het |
Itga4 |
T |
A |
2: 79,108,165 (GRCm39) |
Y206N |
possibly damaging |
Het |
Itpk1 |
A |
G |
12: 102,545,398 (GRCm39) |
V235A |
probably damaging |
Het |
Itpka |
A |
G |
2: 119,581,242 (GRCm39) |
Q425R |
possibly damaging |
Het |
Kpna6 |
T |
A |
4: 129,549,297 (GRCm39) |
I162F |
probably benign |
Het |
Msantd1 |
A |
G |
5: 35,078,768 (GRCm39) |
D101G |
probably damaging |
Het |
Ntrk3 |
T |
C |
7: 78,227,405 (GRCm39) |
I43V |
probably damaging |
Het |
Pias3 |
G |
A |
3: 96,609,495 (GRCm39) |
E271K |
probably damaging |
Het |
Pparg |
A |
G |
6: 115,440,049 (GRCm39) |
I178V |
probably benign |
Het |
Rxfp3 |
A |
T |
15: 11,037,054 (GRCm39) |
M106K |
probably damaging |
Het |
Scn3b |
G |
A |
9: 40,199,713 (GRCm39) |
V210M |
possibly damaging |
Het |
Suz12 |
T |
A |
11: 79,920,149 (GRCm39) |
W570R |
probably damaging |
Het |
Vmn2r107 |
A |
T |
17: 20,578,017 (GRCm39) |
K442M |
probably damaging |
Het |
|
Other mutations in Shisa3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01770:Shisa3
|
APN |
5 |
67,768,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R1416:Shisa3
|
UTSW |
5 |
67,768,777 (GRCm39) |
missense |
probably benign |
|
R1654:Shisa3
|
UTSW |
5 |
67,768,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R2048:Shisa3
|
UTSW |
5 |
67,768,651 (GRCm39) |
missense |
possibly damaging |
0.68 |
R2247:Shisa3
|
UTSW |
5 |
67,768,666 (GRCm39) |
missense |
probably benign |
0.35 |
R4651:Shisa3
|
UTSW |
5 |
67,765,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R6243:Shisa3
|
UTSW |
5 |
67,768,486 (GRCm39) |
missense |
probably benign |
0.04 |
R8799:Shisa3
|
UTSW |
5 |
67,768,749 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2016-08-02 |