Incidental Mutation 'R6698:Gask1b'
ID |
528642 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gask1b
|
Ensembl Gene |
ENSMUSG00000027955 |
Gene Name |
golgi associated kinase 1B |
Synonyms |
Ened, 2210419I08Rik, Fam198b, 1110032E23Rik |
MMRRC Submission |
044816-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R6698 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
79791840-79853587 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 79843902 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 10
(I10V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120603
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029567]
[ENSMUST00000118853]
[ENSMUST00000145992]
|
AlphaFold |
Q3UPI1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029567
AA Change: I374V
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000029567 Gene: ENSMUSG00000027955 AA Change: I374V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
Pfam:FAM198
|
202 |
516 |
9.1e-156 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000118853
AA Change: I374V
PolyPhen 2
Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114093 Gene: ENSMUSG00000027955 AA Change: I374V
Domain | Start | End | E-Value | Type |
transmembrane domain
|
37 |
56 |
N/A |
INTRINSIC |
Pfam:FAM198
|
202 |
516 |
1.1e-155 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145992
AA Change: I10V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000120603 Gene: ENSMUSG00000027955 AA Change: I10V
Domain | Start | End | E-Value | Type |
Pfam:FAM198
|
1 |
51 |
5.4e-27 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
All alleles(2) : Targeted(2)
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Brca2 |
T |
C |
5: 150,455,859 (GRCm39) |
V200A |
probably damaging |
Het |
Camk2g |
T |
A |
14: 20,792,776 (GRCm39) |
K393* |
probably null |
Het |
Catsperb |
T |
A |
12: 101,475,466 (GRCm39) |
F337I |
probably damaging |
Het |
Cdk17 |
T |
C |
10: 93,064,540 (GRCm39) |
Y270H |
probably damaging |
Het |
Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
Col6a5 |
T |
A |
9: 105,811,374 (GRCm39) |
N715I |
unknown |
Het |
Fancg |
A |
G |
4: 43,007,034 (GRCm39) |
S248P |
probably benign |
Het |
Flvcr1 |
T |
C |
1: 190,757,929 (GRCm39) |
Y79C |
probably damaging |
Het |
Gabrp |
A |
G |
11: 33,507,017 (GRCm39) |
S198P |
probably damaging |
Het |
Glp1r |
A |
G |
17: 31,155,375 (GRCm39) |
Y454C |
probably damaging |
Het |
Gpr158 |
A |
C |
2: 21,831,921 (GRCm39) |
D1007A |
probably damaging |
Het |
Gsdmc3 |
A |
G |
15: 63,732,120 (GRCm39) |
F302S |
possibly damaging |
Het |
Gsdmc4 |
T |
A |
15: 63,765,613 (GRCm39) |
D312V |
probably benign |
Het |
Itga5 |
T |
C |
15: 103,259,808 (GRCm39) |
Y663C |
probably benign |
Het |
Kif1b |
A |
T |
4: 149,359,413 (GRCm39) |
M108K |
probably damaging |
Het |
Klf11 |
T |
G |
12: 24,703,618 (GRCm39) |
S18A |
probably damaging |
Het |
Lmtk2 |
T |
C |
5: 144,111,737 (GRCm39) |
V819A |
probably benign |
Het |
Lrba |
A |
G |
3: 86,211,732 (GRCm39) |
M451V |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,192,958 (GRCm39) |
D488G |
probably damaging |
Het |
Mark4 |
T |
C |
7: 19,163,362 (GRCm39) |
N589S |
probably benign |
Het |
Mis12 |
T |
C |
11: 70,916,012 (GRCm39) |
F15S |
probably damaging |
Het |
Nif3l1 |
A |
G |
1: 58,489,648 (GRCm39) |
D179G |
probably benign |
Het |
Nlrx1 |
A |
G |
9: 44,177,104 (GRCm39) |
W3R |
probably damaging |
Het |
Nup210l |
G |
A |
3: 90,089,815 (GRCm39) |
S1194N |
possibly damaging |
Het |
Or13m2-ps1 |
A |
T |
6: 42,778,136 (GRCm39) |
T154S |
probably benign |
Het |
Or5d20-ps1 |
A |
G |
2: 87,931,561 (GRCm39) |
F257L |
unknown |
Het |
Pnkd |
T |
A |
1: 74,389,836 (GRCm39) |
L320Q |
probably damaging |
Het |
Prkn |
A |
G |
17: 11,286,183 (GRCm39) |
|
probably null |
Het |
Rcc2 |
G |
A |
4: 140,429,586 (GRCm39) |
C40Y |
probably benign |
Homo |
Rilpl2 |
C |
T |
5: 124,607,843 (GRCm39) |
E126K |
probably damaging |
Het |
Rpn2 |
T |
C |
2: 157,139,330 (GRCm39) |
I208T |
possibly damaging |
Het |
Skint4 |
G |
T |
4: 111,977,096 (GRCm39) |
C170F |
probably damaging |
Het |
Synj1 |
C |
G |
16: 90,757,340 (GRCm39) |
V877L |
probably damaging |
Het |
Tcp11 |
A |
T |
17: 28,290,804 (GRCm39) |
I106N |
possibly damaging |
Het |
Tg |
A |
G |
15: 66,711,211 (GRCm39) |
Y991C |
probably damaging |
Het |
Trib3 |
A |
G |
2: 152,180,339 (GRCm39) |
S285P |
probably damaging |
Het |
Wdr49 |
A |
T |
3: 75,336,673 (GRCm39) |
W345R |
probably benign |
Het |
Wnt5a |
A |
G |
14: 28,240,420 (GRCm39) |
Y190C |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,244,040 (GRCm39) |
E955G |
probably benign |
Het |
|
Other mutations in Gask1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02952:Gask1b
|
APN |
3 |
79,793,646 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGGGCTTTGAACTACGGAC -3'
(R):5'- TCGGATGCCTTCTAACAACTTAAAG -3'
Sequencing Primer
(F):5'- ACGGACTTATTCTAGCAGCTG -3'
(R):5'- CACAGAAGTTTGGTCCTC -3'
|
Posted On |
2018-07-24 |