Incidental Mutation 'R7434:Gask1b'
| ID |
576617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gask1b
|
| Ensembl Gene |
ENSMUSG00000027955 |
| Gene Name |
golgi associated kinase 1B |
| Synonyms |
Ened, 2210419I08Rik, Fam198b, 1110032E23Rik |
| MMRRC Submission |
045511-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R7434 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
79791840-79853587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79848669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 472
(F472I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029567]
[ENSMUST00000118853]
[ENSMUST00000145992]
|
| AlphaFold |
Q3UPI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029567
AA Change: F472I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: F472I
| 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: F472I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: F472I
| 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: ENSMUST00000145992
|
| SMART Domains |
Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM198
|
1 |
51 |
5.4e-27 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
T |
C |
4: 86,344,115 (GRCm39) |
V1731A |
probably damaging |
Het |
| Bcat2 |
A |
G |
7: 45,225,429 (GRCm39) |
|
probably null |
Het |
| Bcl6 |
T |
G |
16: 23,788,798 (GRCm39) |
E523D |
possibly damaging |
Het |
| Cdcp3 |
C |
T |
7: 130,881,212 (GRCm39) |
S1828F |
unknown |
Het |
| Col4a2 |
T |
A |
8: 11,471,250 (GRCm39) |
N503K |
probably damaging |
Het |
| Cyb5r1 |
G |
A |
1: 134,335,576 (GRCm39) |
C166Y |
probably benign |
Het |
| Cyp2w1 |
T |
C |
5: 139,342,775 (GRCm39) |
V490A |
possibly damaging |
Het |
| Erich6b |
A |
G |
14: 75,901,024 (GRCm39) |
I113V |
probably benign |
Het |
| Fabp12 |
C |
T |
3: 10,312,738 (GRCm39) |
V95I |
probably benign |
Het |
| Gpr3 |
T |
C |
4: 132,938,448 (GRCm39) |
M75V |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,682 (GRCm39) |
S1073A |
probably benign |
Het |
| Hoxc9 |
A |
G |
15: 102,892,414 (GRCm39) |
K209R |
probably damaging |
Het |
| Irgm2 |
T |
G |
11: 58,110,291 (GRCm39) |
V6G |
probably benign |
Het |
| Jakmip2 |
A |
G |
18: 43,690,444 (GRCm39) |
V627A |
possibly damaging |
Het |
| Kansl1l |
C |
G |
1: 66,801,262 (GRCm39) |
S568T |
probably damaging |
Het |
| Lims1 |
A |
G |
10: 58,230,301 (GRCm39) |
T21A |
probably benign |
Het |
| Lpar2 |
G |
T |
8: 70,279,165 (GRCm39) |
A320S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,073,400 (GRCm39) |
N235S |
probably damaging |
Het |
| Ly6g2 |
T |
C |
15: 75,088,567 (GRCm39) |
F12L |
probably benign |
Het |
| Meis1 |
A |
T |
11: 18,835,542 (GRCm39) |
S359T |
unknown |
Het |
| Mtor |
C |
T |
4: 148,549,416 (GRCm39) |
T600I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,149,910 (GRCm39) |
S144P |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,274,025 (GRCm39) |
E205G |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,643,049 (GRCm39) |
I329T |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,587,633 (GRCm39) |
I1031T |
probably damaging |
Het |
| Nyap1 |
A |
G |
5: 137,734,530 (GRCm39) |
S168P |
probably damaging |
Het |
| Or56a4 |
A |
G |
7: 104,806,106 (GRCm39) |
V261A |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,903,515 (GRCm39) |
K73* |
probably null |
Het |
| Pcdhga11 |
T |
C |
18: 37,891,005 (GRCm39) |
V671A |
probably benign |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,552,180 (GRCm39) |
D317G |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,103,389 (GRCm39) |
E1957G |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,159,414 (GRCm39) |
S3097P |
unknown |
Het |
| Tas2r113 |
C |
T |
6: 132,870,272 (GRCm39) |
T100I |
probably benign |
Het |
| Tnni1 |
A |
G |
1: 135,735,260 (GRCm39) |
D57G |
|
Het |
| Trim29 |
G |
A |
9: 43,246,428 (GRCm39) |
V575I |
probably damaging |
Het |
| Trpv3 |
G |
A |
11: 73,179,087 (GRCm39) |
V499M |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,693,161 (GRCm39) |
M1748I |
probably benign |
Het |
| Upk1a |
A |
T |
7: 30,306,617 (GRCm39) |
M99K |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,276,207 (GRCm39) |
L515* |
probably null |
Het |
| Vmn1r103 |
T |
C |
7: 20,244,435 (GRCm39) |
K9E |
probably damaging |
Het |
| Vwde |
A |
G |
6: 13,187,639 (GRCm39) |
V616A |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,600,564 (GRCm39) |
S397R |
possibly damaging |
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 |
|
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 |
|
|
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'- GAAGTGTCTGCTTGTCAGTGAC -3'
(R):5'- ATGTGACACATGTATAGCCCTCAAG -3'
Sequencing Primer
(F):5'- TCTAGGTCTCATTTGATAGTGTGAC -3'
(R):5'- AATACTCTAGCCCCGTGT -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation