Incidental Mutation 'IGL03208:Fastkd2'
| ID |
413195 |
| 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 # |
IGL03208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
63769758-63792544 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63778365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 413
(E413K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027103]
|
| AlphaFold |
Q922E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027103
AA Change: E413K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
AA Change: E413K
| 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 |
noncoding transcript
Transcript: ENSMUST00000128621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131478
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
T |
C |
4: 40,186,424 (GRCm39) |
V612A |
possibly damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,337 (GRCm39) |
T195S |
probably damaging |
Het |
| Cluh |
C |
A |
11: 74,560,332 (GRCm39) |
|
probably null |
Het |
| Cntn3 |
T |
C |
6: 102,164,060 (GRCm39) |
Y882C |
probably damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,813,833 (GRCm39) |
K645N |
probably benign |
Het |
| Entpd6 |
T |
A |
2: 150,610,838 (GRCm39) |
Y385N |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,431,452 (GRCm39) |
Y484C |
probably damaging |
Het |
| Exo1 |
G |
A |
1: 175,723,811 (GRCm39) |
A386T |
probably benign |
Het |
| Fam149b |
T |
C |
14: 20,401,370 (GRCm39) |
|
probably benign |
Het |
| Fbxl3 |
A |
T |
14: 103,320,376 (GRCm39) |
L405* |
probably null |
Het |
| Gpr75 |
A |
T |
11: 30,842,699 (GRCm39) |
I535F |
probably damaging |
Het |
| Irf2 |
A |
C |
8: 47,260,340 (GRCm39) |
I53L |
probably damaging |
Het |
| Lca5l |
T |
C |
16: 95,980,046 (GRCm39) |
E28G |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,853,974 (GRCm39) |
|
probably benign |
Het |
| Or10z1 |
A |
G |
1: 174,077,959 (GRCm39) |
F178S |
probably damaging |
Het |
| Or52n4b |
T |
C |
7: 108,144,326 (GRCm39) |
V196A |
probably benign |
Het |
| Plekhm1 |
T |
C |
11: 103,267,596 (GRCm39) |
K792E |
probably benign |
Het |
| Ppp1r14c |
A |
T |
10: 3,373,531 (GRCm39) |
D114V |
probably damaging |
Het |
| Rnf20 |
G |
T |
4: 49,645,706 (GRCm39) |
|
probably benign |
Het |
| Srgap1 |
G |
A |
10: 121,628,171 (GRCm39) |
P934S |
possibly damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,383,053 (GRCm39) |
E243G |
probably damaging |
Het |
| Tecta |
A |
G |
9: 42,248,396 (GRCm39) |
|
probably benign |
Het |
| Tshr |
T |
C |
12: 91,500,716 (GRCm39) |
L147P |
probably damaging |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,025 (GRCm39) |
S96R |
possibly 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 |
|
|
IGL01890:Fastkd2
|
APN |
1 |
63,771,320 (GRCm39) |
missense |
probably benign |
0.06 |
|
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation