Incidental Mutation 'R6353:Gask1b'
| ID |
512284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gask1b
|
| Ensembl Gene |
ENSMUSG00000027955 |
| Gene Name |
golgi associated kinase 1B |
| Synonyms |
Ened, 2210419I08Rik, Fam198b, 1110032E23Rik |
| MMRRC Submission |
044505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R6353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
79791840-79853587 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79848647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 464
(R464S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114093
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029567]
[ENSMUST00000118853]
[ENSMUST00000145992]
|
| AlphaFold |
Q3UPI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029567
AA Change: R464S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: R464S
| 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: R464S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: R464S
| 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: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
| Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
| Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
| Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
| Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
| Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
| Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
| Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGAAGTGTCTGCTTGTCAG -3'
(R):5'- TGACACATGTATAGCCCTCAAGG -3'
Sequencing Primer
(F):5'- GACTTATGAGATTAAGGAAGGC -3'
(R):5'- GCAGAAAGCCATTTGTCATTCATTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation