Incidental Mutation 'IGL01890:Fastkd2'
| ID |
179236 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fastkd2
|
| Ensembl Gene |
ENSMUSG00000025962 |
| Gene Name |
FAST kinase domains 2 |
| Synonyms |
2810421I24Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01890
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
63769758-63792544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 63771320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 225
(I225M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027103]
[ENSMUST00000114094]
|
| AlphaFold |
Q922E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027103
AA Change: I225M
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: I225M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
310 |
323 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
443 |
512 |
2.3e-23 |
PFAM |
|
low complexity region
|
546 |
557 |
N/A |
INTRINSIC |
|
RAP
|
619 |
675 |
1.66e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114094
|
| SMART Domains |
Protein: ENSMUSP00000109728
Gene: ENSMUSG00000025963
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
81 |
N/A |
INTRINSIC |
|
SCOP:d1b8pa1
|
131 |
282 |
1e-16 |
SMART |
|
PDB:5MDH|B
|
131 |
457 |
3e-32 |
PDB |
|
SCOP:d7mdha2
|
290 |
454 |
7e-18 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148758
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
A |
T |
12: 80,231,642 (GRCm39) |
V265E |
probably damaging |
Het |
| Anks1b |
A |
G |
10: 90,480,389 (GRCm39) |
I865V |
probably benign |
Het |
| Car5a |
G |
A |
8: 122,650,349 (GRCm39) |
A182V |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,096,277 (GRCm39) |
V249A |
probably damaging |
Het |
| Cyb561d2 |
A |
G |
9: 107,418,722 (GRCm39) |
V34A |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,676,149 (GRCm39) |
|
probably benign |
Het |
| Entpd6 |
G |
A |
2: 150,612,612 (GRCm39) |
D445N |
possibly damaging |
Het |
| Flcn |
A |
G |
11: 59,685,996 (GRCm39) |
V424A |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gpn3 |
A |
G |
5: 122,519,328 (GRCm39) |
M176V |
probably benign |
Het |
| Igkv12-38 |
C |
T |
6: 69,920,389 (GRCm39) |
C43Y |
probably damaging |
Het |
| Oas1h |
A |
G |
5: 121,000,852 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
A |
T |
10: 80,378,845 (GRCm39) |
Y1064N |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 111,867,878 (GRCm39) |
G2R |
probably damaging |
Het |
| Slc4a9 |
G |
A |
18: 36,662,760 (GRCm39) |
A172T |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,906,146 (GRCm39) |
S727P |
probably damaging |
Het |
| Tmem131 |
A |
T |
1: 36,862,237 (GRCm39) |
|
probably benign |
Het |
| Trpm3 |
G |
T |
19: 22,689,083 (GRCm39) |
R4L |
probably damaging |
Het |
| Upf1 |
A |
T |
8: 70,786,880 (GRCm39) |
V879E |
possibly damaging |
Het |
| Vmn1r194 |
A |
T |
13: 22,428,776 (GRCm39) |
Y131F |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,737 (GRCm39) |
N491K |
probably damaging |
Het |
|
| Other mutations in Fastkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Fastkd2
|
APN |
1 |
63,776,930 (GRCm39) |
splice site |
probably benign |
|
|
IGL02698:Fastkd2
|
APN |
1 |
63,787,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02992:Fastkd2
|
APN |
1 |
63,777,083 (GRCm39) |
splice site |
probably benign |
|
|
IGL03208:Fastkd2
|
APN |
1 |
63,778,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Fastkd2
|
UTSW |
1 |
63,771,187 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0304:Fastkd2
|
UTSW |
1 |
63,791,559 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R0385:Fastkd2
|
UTSW |
1 |
63,776,970 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0486:Fastkd2
|
UTSW |
1 |
63,791,499 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1115:Fastkd2
|
UTSW |
1 |
63,787,114 (GRCm39) |
splice site |
probably benign |
|
|
R1468:Fastkd2
|
UTSW |
1 |
63,771,385 (GRCm39) |
unclassified |
probably benign |
|
|
R1579:Fastkd2
|
UTSW |
1 |
63,785,046 (GRCm39) |
missense |
probably null |
0.00 |
|
R1729:Fastkd2
|
UTSW |
1 |
63,790,459 (GRCm39) |
nonsense |
probably null |
|
|
R3937:Fastkd2
|
UTSW |
1 |
63,776,995 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4326:Fastkd2
|
UTSW |
1 |
63,791,516 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4327:Fastkd2
|
UTSW |
1 |
63,791,516 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4463:Fastkd2
|
UTSW |
1 |
63,774,968 (GRCm39) |
intron |
probably benign |
|
|
R4473:Fastkd2
|
UTSW |
1 |
63,770,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4760:Fastkd2
|
UTSW |
1 |
63,785,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5012:Fastkd2
|
UTSW |
1 |
63,789,055 (GRCm39) |
intron |
probably benign |
|
|
R5176:Fastkd2
|
UTSW |
1 |
63,770,598 (GRCm39) |
unclassified |
probably benign |
|
|
R5478:Fastkd2
|
UTSW |
1 |
63,778,345 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5619:Fastkd2
|
UTSW |
1 |
63,778,469 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6893:Fastkd2
|
UTSW |
1 |
63,770,953 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7038:Fastkd2
|
UTSW |
1 |
63,771,032 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7049:Fastkd2
|
UTSW |
1 |
63,771,009 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7510:Fastkd2
|
UTSW |
1 |
63,776,948 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7810:Fastkd2
|
UTSW |
1 |
63,770,851 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7889:Fastkd2
|
UTSW |
1 |
63,774,619 (GRCm39) |
splice site |
probably null |
|
|
R8263:Fastkd2
|
UTSW |
1 |
63,770,968 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8271:Fastkd2
|
UTSW |
1 |
63,787,183 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8321:Fastkd2
|
UTSW |
1 |
63,787,138 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8468:Fastkd2
|
UTSW |
1 |
63,770,923 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8767:Fastkd2
|
UTSW |
1 |
63,775,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Fastkd2
|
UTSW |
1 |
63,773,996 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Fastkd2
|
UTSW |
1 |
63,773,995 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation