Incidental Mutation 'IGL03411:Fastkd1'
| ID |
421790 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fastkd1
|
| Ensembl Gene |
ENSMUSG00000027086 |
| Gene Name |
FAST kinase domains 1 |
| Synonyms |
5330408N05Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL03411
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
69517159-69543860 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 69537703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 293
(V293G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073152]
[ENSMUST00000102706]
|
| AlphaFold |
Q6DI86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073152
AA Change: V293G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000072896
Gene: ENSMUSG00000027086
AA Change: V293G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
560 |
628 |
6.6e-25 |
PFAM |
|
Pfam:FAST_2
|
645 |
730 |
6.4e-26 |
PFAM |
|
RAP
|
763 |
822 |
4.38e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102706
AA Change: V293G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000099767
Gene: ENSMUSG00000027086
AA Change: V293G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
179 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
324 |
N/A |
INTRINSIC |
|
low complexity region
|
385 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
530 |
600 |
2.2e-26 |
PFAM |
|
Pfam:FAST_2
|
614 |
701 |
4.4e-31 |
PFAM |
|
RAP
|
734 |
793 |
4.38e-25 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129260
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140776
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,218,310 (GRCm39) |
I305T |
probably damaging |
Het |
| Adamts18 |
G |
A |
8: 114,490,929 (GRCm39) |
Q513* |
probably null |
Het |
| Adamts6 |
A |
G |
13: 104,450,842 (GRCm39) |
I342V |
possibly damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,582 (GRCm39) |
T216A |
possibly damaging |
Het |
| Coro1b |
A |
G |
19: 4,200,225 (GRCm39) |
|
probably benign |
Het |
| Cyp4a10 |
G |
A |
4: 115,382,890 (GRCm39) |
|
probably null |
Het |
| Cyp4x1 |
T |
A |
4: 114,965,982 (GRCm39) |
Q448L |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,430,916 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
C |
A |
5: 76,690,042 (GRCm39) |
A194D |
probably damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,264 (GRCm39) |
L312P |
probably damaging |
Het |
| Hhla1 |
A |
G |
15: 65,802,078 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
A |
T |
2: 31,236,649 (GRCm39) |
E397D |
possibly damaging |
Het |
| Lig1 |
C |
T |
7: 13,030,694 (GRCm39) |
R449C |
probably damaging |
Het |
| Mdc1 |
A |
G |
17: 36,164,018 (GRCm39) |
T1189A |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,575,436 (GRCm39) |
M1397I |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,980,330 (GRCm39) |
E1484G |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,182,890 (GRCm39) |
I1019V |
probably benign |
Het |
| Nid1 |
T |
C |
13: 13,612,474 (GRCm39) |
L63P |
probably damaging |
Het |
| Ogfod3 |
A |
T |
11: 121,068,630 (GRCm39) |
*316R |
probably null |
Het |
| Or6z7 |
T |
C |
7: 6,483,435 (GRCm39) |
K240R |
probably benign |
Het |
| Pdpk1 |
A |
T |
17: 24,320,618 (GRCm39) |
V193E |
probably damaging |
Het |
| Phf3 |
G |
T |
1: 30,843,482 (GRCm39) |
P1826T |
probably damaging |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,847 (GRCm39) |
I51V |
probably benign |
Het |
| Prpf4b |
C |
T |
13: 35,079,342 (GRCm39) |
L739F |
probably damaging |
Het |
| Rcbtb1 |
T |
A |
14: 59,447,419 (GRCm39) |
M1K |
probably null |
Het |
| Rin2 |
A |
G |
2: 145,702,864 (GRCm39) |
E520G |
probably damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Shpk |
A |
G |
11: 73,105,861 (GRCm39) |
T238A |
probably benign |
Het |
| Tmem132d |
A |
T |
5: 128,061,347 (GRCm39) |
Y418* |
probably null |
Het |
| Tpte |
T |
C |
8: 22,815,553 (GRCm39) |
V212A |
possibly damaging |
Het |
| Trim55 |
A |
T |
3: 19,713,354 (GRCm39) |
Y135F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,598,456 (GRCm39) |
A19486T |
probably damaging |
Het |
| Vmn2r59 |
A |
T |
7: 41,708,340 (GRCm39) |
N22K |
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,577,368 (GRCm39) |
D390G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,806,634 (GRCm39) |
E527G |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,875,894 (GRCm39) |
E1538K |
probably damaging |
Het |
| Zfp64 |
T |
C |
2: 168,793,462 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
A |
G |
8: 79,803,116 (GRCm39) |
S563G |
probably damaging |
Het |
|
| Other mutations in Fastkd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Fastkd1
|
APN |
2 |
69,537,893 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL00702:Fastkd1
|
APN |
2 |
69,538,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00960:Fastkd1
|
APN |
2 |
69,524,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL01154:Fastkd1
|
APN |
2 |
69,520,404 (GRCm39) |
splice site |
probably null |
|
|
IGL01463:Fastkd1
|
APN |
2 |
69,520,405 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01913:Fastkd1
|
APN |
2 |
69,538,845 (GRCm39) |
splice site |
probably benign |
|
|
IGL01977:Fastkd1
|
APN |
2 |
69,524,932 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02408:Fastkd1
|
APN |
2 |
69,532,945 (GRCm39) |
missense |
probably benign |
|
|
IGL02715:Fastkd1
|
APN |
2 |
69,542,469 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4519001:Fastkd1
|
UTSW |
2 |
69,520,501 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0541:Fastkd1
|
UTSW |
2 |
69,532,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0612:Fastkd1
|
UTSW |
2 |
69,542,727 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1170:Fastkd1
|
UTSW |
2 |
69,538,993 (GRCm39) |
splice site |
probably benign |
|
|
R1499:Fastkd1
|
UTSW |
2 |
69,538,982 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1586:Fastkd1
|
UTSW |
2 |
69,542,492 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1698:Fastkd1
|
UTSW |
2 |
69,532,813 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2172:Fastkd1
|
UTSW |
2 |
69,530,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2240:Fastkd1
|
UTSW |
2 |
69,527,297 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2327:Fastkd1
|
UTSW |
2 |
69,535,872 (GRCm39) |
nonsense |
probably null |
|
|
R2897:Fastkd1
|
UTSW |
2 |
69,532,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4120:Fastkd1
|
UTSW |
2 |
69,537,654 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4544:Fastkd1
|
UTSW |
2 |
69,542,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Fastkd1
|
UTSW |
2 |
69,542,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Fastkd1
|
UTSW |
2 |
69,521,651 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4993:Fastkd1
|
UTSW |
2 |
69,533,084 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5284:Fastkd1
|
UTSW |
2 |
69,542,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5668:Fastkd1
|
UTSW |
2 |
69,537,725 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6869:Fastkd1
|
UTSW |
2 |
69,533,104 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6870:Fastkd1
|
UTSW |
2 |
69,538,958 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7062:Fastkd1
|
UTSW |
2 |
69,534,666 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7576:Fastkd1
|
UTSW |
2 |
69,524,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Fastkd1
|
UTSW |
2 |
69,527,184 (GRCm39) |
splice site |
probably null |
|
|
R7971:Fastkd1
|
UTSW |
2 |
69,537,703 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8336:Fastkd1
|
UTSW |
2 |
69,542,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8403:Fastkd1
|
UTSW |
2 |
69,517,425 (GRCm39) |
nonsense |
probably null |
|
|
R8422:Fastkd1
|
UTSW |
2 |
69,532,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Fastkd1
|
UTSW |
2 |
69,532,715 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation