Incidental Mutation 'V1662:Gask1a'
| ID |
63488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gask1a
|
| Ensembl Gene |
ENSMUSG00000038233 |
| Gene Name |
golgi associated kinase 1A |
| Synonyms |
C730027P07Rik, Fam198a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
V1662 ()
of strain
633
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
121780054-121809275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121794091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 82
(R82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043011]
[ENSMUST00000213773]
[ENSMUST00000214536]
[ENSMUST00000215990]
|
| AlphaFold |
Q3UY90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043011
AA Change: R82G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233
AA Change: R82G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
|
Pfam:FAM198
|
220 |
544 |
1.3e-150 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213773
AA Change: R82G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214536
AA Change: R82G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214808
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215990
AA Change: R82G
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
C |
5: 114,376,769 (GRCm39) |
G1951R |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,323,540 (GRCm39) |
V601M |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,540,636 (GRCm39) |
R154Q |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Het |
| Bhlha9 |
G |
T |
11: 76,563,862 (GRCm39) |
R163L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,596,283 (GRCm39) |
N1913D |
possibly damaging |
Het |
| Cd7 |
T |
C |
11: 120,927,952 (GRCm39) |
I184V |
probably benign |
Het |
| Cdk2ap1 |
T |
A |
5: 124,486,739 (GRCm39) |
I68F |
possibly damaging |
Het |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,874 (GRCm39) |
S346P |
unknown |
Het |
| Daam2 |
A |
G |
17: 49,771,629 (GRCm39) |
L839P |
possibly damaging |
Het |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| H2-T9 |
A |
G |
17: 36,439,823 (GRCm39) |
Y104H |
probably benign |
Het |
| Itgav |
C |
T |
2: 83,614,198 (GRCm39) |
R519W |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Or2y8 |
T |
C |
11: 52,036,004 (GRCm39) |
M118V |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or5m13 |
C |
A |
2: 85,748,938 (GRCm39) |
T223K |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,304,169 (GRCm39) |
G307S |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,783 (GRCm39) |
Y443F |
probably damaging |
Het |
| Rpusd4 |
C |
A |
9: 35,184,057 (GRCm39) |
S237R |
probably benign |
Het |
| Sdk2 |
A |
C |
11: 113,725,734 (GRCm39) |
W1172G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,245 (GRCm39) |
I249T |
possibly damaging |
Het |
|
| Other mutations in Gask1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Gask1a
|
APN |
9 |
121,807,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01722:Gask1a
|
APN |
9 |
121,794,149 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02733:Gask1a
|
APN |
9 |
121,794,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0514:Gask1a
|
UTSW |
9 |
121,807,418 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1344:Gask1a
|
UTSW |
9 |
121,807,452 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1868:Gask1a
|
UTSW |
9 |
121,794,493 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2279:Gask1a
|
UTSW |
9 |
121,794,668 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3237:Gask1a
|
UTSW |
9 |
121,793,935 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3753:Gask1a
|
UTSW |
9 |
121,794,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Gask1a
|
UTSW |
9 |
121,794,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5192:Gask1a
|
UTSW |
9 |
121,794,727 (GRCm39) |
missense |
probably benign |
|
|
R5196:Gask1a
|
UTSW |
9 |
121,794,727 (GRCm39) |
missense |
probably benign |
|
|
R5560:Gask1a
|
UTSW |
9 |
121,807,289 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5588:Gask1a
|
UTSW |
9 |
121,794,247 (GRCm39) |
nonsense |
probably null |
|
|
R5689:Gask1a
|
UTSW |
9 |
121,794,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7017:Gask1a
|
UTSW |
9 |
121,795,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7037:Gask1a
|
UTSW |
9 |
121,794,592 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7041:Gask1a
|
UTSW |
9 |
121,794,467 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7045:Gask1a
|
UTSW |
9 |
121,794,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7170:Gask1a
|
UTSW |
9 |
121,807,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7505:Gask1a
|
UTSW |
9 |
121,805,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7704:Gask1a
|
UTSW |
9 |
121,780,151 (GRCm39) |
start gained |
probably benign |
|
|
R7751:Gask1a
|
UTSW |
9 |
121,793,887 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9655:Gask1a
|
UTSW |
9 |
121,794,170 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9763:Gask1a
|
UTSW |
9 |
121,805,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGATGGCATTCTGCCTCTTG -3'
(R):5'- TGCCTGAAAAGATTCGTGGCTTCTC -3'
Sequencing Primer
(F):5'- AGGGCATCCAGCTTCCAC -3'
(R):5'- CTCTCTGTGAGTGGGACAAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation