Incidental Mutation 'R1115:Fastkd2'
| ID |
97102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd2
|
| Ensembl Gene |
ENSMUSG00000025962 |
| Gene Name |
FAST kinase domains 2 |
| Synonyms |
2810421I24Rik |
| MMRRC Submission |
039188-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1115 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63769758-63792544 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 63787114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027103]
|
| AlphaFold |
Q922E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027103
|
| SMART Domains |
Protein: ENSMUSP00000027103
Gene: ENSMUSG00000025962
| 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: ENSMUST00000123945
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128621
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134454
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
A |
11: 100,370,081 (GRCm39) |
V994F |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,214,741 (GRCm39) |
T182A |
probably benign |
Het |
| Bcl2l14 |
T |
C |
6: 134,409,102 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,553,511 (GRCm39) |
M1183V |
possibly damaging |
Het |
| Ccr7 |
A |
T |
11: 99,036,103 (GRCm39) |
I273K |
possibly damaging |
Het |
| Cd40 |
A |
G |
2: 164,912,681 (GRCm39) |
M211V |
possibly damaging |
Het |
| Coro2b |
T |
G |
9: 62,338,609 (GRCm39) |
E208A |
probably damaging |
Het |
| Dennd5a |
A |
C |
7: 109,517,968 (GRCm39) |
M556R |
probably damaging |
Het |
| Efcab2 |
A |
T |
1: 178,265,062 (GRCm39) |
|
probably benign |
Het |
| Fbxw8 |
A |
C |
5: 118,215,636 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
T |
C |
3: 85,629,802 (GRCm39) |
E263G |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,939,007 (GRCm39) |
D25G |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Ift52 |
A |
G |
2: 162,871,702 (GRCm39) |
K178R |
probably benign |
Het |
| Kit |
T |
C |
5: 75,810,192 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,137,859 (GRCm39) |
|
probably null |
Het |
| Mxra7 |
G |
T |
11: 116,701,696 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,453,024 (GRCm39) |
S7* |
probably null |
Het |
| Nphs1 |
C |
T |
7: 30,180,803 (GRCm39) |
|
probably benign |
Het |
| Or10h28 |
C |
T |
17: 33,487,940 (GRCm39) |
R81* |
probably null |
Het |
| Or1l8 |
C |
A |
2: 36,817,514 (GRCm39) |
G204V |
possibly damaging |
Het |
| Osgin2 |
A |
T |
4: 15,998,085 (GRCm39) |
D512E |
possibly damaging |
Het |
| Pde4b |
T |
A |
4: 102,399,352 (GRCm39) |
|
probably benign |
Het |
| Rasef |
G |
T |
4: 73,666,841 (GRCm39) |
T146K |
possibly damaging |
Het |
| Ren1 |
T |
A |
1: 133,284,256 (GRCm39) |
V207D |
probably damaging |
Het |
| S100a8 |
A |
G |
3: 90,577,180 (GRCm39) |
D59G |
probably damaging |
Het |
| Sdcbp |
G |
A |
4: 6,377,143 (GRCm39) |
|
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slamf7 |
A |
T |
1: 171,466,751 (GRCm39) |
D151E |
probably benign |
Het |
| Slco1b2 |
A |
G |
6: 141,628,980 (GRCm39) |
M561V |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Stard9 |
T |
C |
2: 120,523,331 (GRCm39) |
I662T |
probably benign |
Het |
| Vwf |
T |
A |
6: 125,632,028 (GRCm39) |
V20D |
unknown |
Het |
| Znhit6 |
G |
T |
3: 145,300,440 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-05 |
Incidental Mutation