Incidental Mutation 'IGL02952:Gask1b'
| ID |
364954 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gask1b
|
| Ensembl Gene |
ENSMUSG00000027955 |
| Gene Name |
golgi associated kinase 1B |
| Synonyms |
Ened, 2210419I08Rik, Fam198b, 1110032E23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
IGL02952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79791840-79853587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79793646 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 38
(L38P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029567]
[ENSMUST00000118853]
[ENSMUST00000135021]
[ENSMUST00000145992]
|
| AlphaFold |
Q3UPI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029567
AA Change: L38P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: L38P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAM198
|
202 |
516 |
9.1e-156 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118853
AA Change: L38P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: L38P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAM198
|
202 |
516 |
1.1e-155 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135021
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145992
|
| SMART Domains |
Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM198
|
1 |
51 |
5.4e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193204
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195082
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,654,984 (GRCm39) |
D1436V |
probably damaging |
Het |
| Abca7 |
G |
T |
10: 79,843,242 (GRCm39) |
R1239L |
probably damaging |
Het |
| Acp2 |
T |
C |
2: 91,038,788 (GRCm39) |
|
probably benign |
Het |
| Adamts4 |
A |
G |
1: 171,078,917 (GRCm39) |
N179S |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,581,755 (GRCm39) |
D4763G |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,882,844 (GRCm39) |
V633A |
probably damaging |
Het |
| Cadm2 |
A |
T |
16: 66,461,338 (GRCm39) |
I342K |
probably damaging |
Het |
| Capn10 |
T |
C |
1: 92,872,896 (GRCm39) |
S541P |
probably damaging |
Het |
| Ccnf |
A |
G |
17: 24,450,299 (GRCm39) |
L462P |
possibly damaging |
Het |
| Cdc27 |
T |
C |
11: 104,408,290 (GRCm39) |
Y546C |
probably damaging |
Het |
| Cep120 |
G |
T |
18: 53,816,300 (GRCm39) |
|
probably benign |
Het |
| Cetn2 |
T |
C |
X: 71,957,808 (GRCm39) |
|
probably null |
Het |
| Cyp1a1 |
C |
T |
9: 57,609,993 (GRCm39) |
S469L |
probably benign |
Het |
| Dnah17 |
G |
A |
11: 117,979,094 (GRCm39) |
T1766I |
probably benign |
Het |
| Doc2g |
G |
A |
19: 4,056,719 (GRCm39) |
G345D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,760,902 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,414,975 (GRCm39) |
|
probably benign |
Het |
| Emilin2 |
C |
A |
17: 71,587,816 (GRCm39) |
V99F |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,624,275 (GRCm39) |
S31P |
probably benign |
Het |
| Gm3115 |
T |
C |
14: 4,084,302 (GRCm38) |
|
probably benign |
Het |
| Gm9742 |
T |
A |
13: 8,079,930 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr160 |
T |
C |
3: 30,950,443 (GRCm39) |
Y172H |
probably benign |
Het |
| Ifnk |
T |
A |
4: 35,152,495 (GRCm39) |
L141Q |
probably damaging |
Het |
| Klhl36 |
A |
G |
8: 120,597,223 (GRCm39) |
E308G |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 41,396,715 (GRCm39) |
I450M |
probably benign |
Het |
| Noxa1 |
T |
C |
2: 24,981,773 (GRCm39) |
Y110C |
probably damaging |
Het |
| Or10ad1 |
T |
C |
15: 98,105,470 (GRCm39) |
Y265C |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,628,026 (GRCm39) |
T367S |
possibly damaging |
Het |
| Polg2 |
T |
C |
11: 106,663,539 (GRCm39) |
I385V |
possibly damaging |
Het |
| Ppp1r14bl |
A |
T |
1: 23,141,071 (GRCm39) |
I81N |
probably damaging |
Het |
| Prr14l |
A |
G |
5: 32,993,014 (GRCm39) |
S17P |
unknown |
Het |
| Prss22 |
C |
A |
17: 24,215,697 (GRCm39) |
C75F |
probably damaging |
Het |
| Ptgs1 |
A |
G |
2: 36,141,253 (GRCm39) |
K567E |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,036,925 (GRCm39) |
I1141M |
probably damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,433 (GRCm39) |
K477E |
probably damaging |
Het |
| Riok1 |
A |
G |
13: 38,232,866 (GRCm39) |
Y194C |
probably damaging |
Het |
| Smr2 |
T |
A |
5: 88,236,095 (GRCm39) |
C16S |
possibly damaging |
Het |
| Stk25 |
A |
T |
1: 93,553,798 (GRCm39) |
I187N |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,186,256 (GRCm39) |
E143G |
probably damaging |
Het |
|
| Other mutations in Gask1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
P0015:Gask1b
|
UTSW |
3 |
79,843,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4362001:Gask1b
|
UTSW |
3 |
79,794,246 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1519:Gask1b
|
UTSW |
3 |
79,848,771 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1723:Gask1b
|
UTSW |
3 |
79,843,970 (GRCm39) |
missense |
probably benign |
|
|
R1782:Gask1b
|
UTSW |
3 |
79,793,838 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3040:Gask1b
|
UTSW |
3 |
79,794,432 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3840:Gask1b
|
UTSW |
3 |
79,815,897 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4841:Gask1b
|
UTSW |
3 |
79,843,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Gask1b
|
UTSW |
3 |
79,843,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Gask1b
|
UTSW |
3 |
79,843,981 (GRCm39) |
nonsense |
probably null |
|
|
R4860:Gask1b
|
UTSW |
3 |
79,843,981 (GRCm39) |
nonsense |
probably null |
|
|
R5181:Gask1b
|
UTSW |
3 |
79,793,618 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5266:Gask1b
|
UTSW |
3 |
79,843,910 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6353:Gask1b
|
UTSW |
3 |
79,848,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6698:Gask1b
|
UTSW |
3 |
79,843,902 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6856:Gask1b
|
UTSW |
3 |
79,793,448 (GRCm39) |
intron |
probably benign |
|
|
R6927:Gask1b
|
UTSW |
3 |
79,848,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Gask1b
|
UTSW |
3 |
79,793,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Gask1b
|
UTSW |
3 |
79,794,114 (GRCm39) |
nonsense |
probably null |
|
|
R7434:Gask1b
|
UTSW |
3 |
79,848,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Gask1b
|
UTSW |
3 |
79,793,915 (GRCm39) |
nonsense |
probably null |
|
|
R7780:Gask1b
|
UTSW |
3 |
79,848,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7891:Gask1b
|
UTSW |
3 |
79,793,591 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8812:Gask1b
|
UTSW |
3 |
79,816,078 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8841:Gask1b
|
UTSW |
3 |
79,794,426 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8960:Gask1b
|
UTSW |
3 |
79,794,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation