Incidental Mutation 'R1282:Fastkd3'
| ID |
151070 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd3
|
| Ensembl Gene |
ENSMUSG00000021532 |
| Gene Name |
FAST kinase domains 3 |
| Synonyms |
2310010B21Rik |
| MMRRC Submission |
039348-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R1282 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
68730353-68740457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 68732676 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 332
(N332K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045827]
[ENSMUST00000051784]
[ENSMUST00000220973]
[ENSMUST00000221259]
[ENSMUST00000223319]
[ENSMUST00000222660]
[ENSMUST00000222107]
[ENSMUST00000222631]
[ENSMUST00000223187]
[ENSMUST00000223398]
[ENSMUST00000223101]
|
| AlphaFold |
Q8BSN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045827
|
| SMART Domains |
Protein: ENSMUSP00000039810
Gene: ENSMUSG00000034617
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Flavodoxin_5
|
5 |
126 |
2.7e-9 |
PFAM |
|
Pfam:Flavodoxin_1
|
6 |
142 |
4.3e-32 |
PFAM |
|
Pfam:FAD_binding_1
|
267 |
490 |
2.6e-51 |
PFAM |
|
Pfam:NAD_binding_1
|
540 |
660 |
5.4e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051784
AA Change: N332K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
AA Change: N332K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
Pfam:FAST_1
|
410 |
478 |
2.9e-22 |
PFAM |
|
Pfam:FAST_2
|
491 |
581 |
3.1e-28 |
PFAM |
|
RAP
|
594 |
651 |
7.58e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220973
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221259
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221800
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222068
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223319
AA Change: N332K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222660
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222631
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223187
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223101
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a small family of Fas-activated serine/threonine kinase domain (FASTKD) containing proteins that share an amino terminal mitochondrial targeting domain and multiple carboxy terminal FAST domains as well as a putative RNA-binding RAP domain. The members of this family are ubiquitously expressed and are generally most abundant in mitochondria-enriched tissues such as heart, skeletal muscle and brown-adipose tissue. Some members of this protein family may play a role in apoptosis. The protein encoded by this gene interacts with components of the mitochondrial respiratory and translation networks. A pseudogene of this gene is also present on chromosome 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
| Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
| Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
| Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
| Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
| H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
| Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
| Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
| Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
| Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
| Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
| Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
| Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
| Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
| Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
| Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
| Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
| Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
probably benign |
Het |
|
| Other mutations in Fastkd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Fastkd3
|
APN |
13 |
68,732,647 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01839:Fastkd3
|
APN |
13 |
68,732,971 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02268:Fastkd3
|
APN |
13 |
68,731,796 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03412:Fastkd3
|
APN |
13 |
68,731,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0681:Fastkd3
|
UTSW |
13 |
68,740,047 (GRCm39) |
splice site |
probably benign |
|
|
R1987:Fastkd3
|
UTSW |
13 |
68,733,360 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3081:Fastkd3
|
UTSW |
13 |
68,732,987 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4153:Fastkd3
|
UTSW |
13 |
68,738,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5339:Fastkd3
|
UTSW |
13 |
68,738,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5384:Fastkd3
|
UTSW |
13 |
68,732,704 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6034:Fastkd3
|
UTSW |
13 |
68,731,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6034:Fastkd3
|
UTSW |
13 |
68,731,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6109:Fastkd3
|
UTSW |
13 |
68,738,337 (GRCm39) |
nonsense |
probably null |
|
|
R6123:Fastkd3
|
UTSW |
13 |
68,738,337 (GRCm39) |
nonsense |
probably null |
|
|
R6124:Fastkd3
|
UTSW |
13 |
68,738,337 (GRCm39) |
nonsense |
probably null |
|
|
R6299:Fastkd3
|
UTSW |
13 |
68,735,855 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6388:Fastkd3
|
UTSW |
13 |
68,738,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6561:Fastkd3
|
UTSW |
13 |
68,732,149 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7214:Fastkd3
|
UTSW |
13 |
68,737,499 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7446:Fastkd3
|
UTSW |
13 |
68,740,079 (GRCm39) |
missense |
unknown |
|
|
R8897:Fastkd3
|
UTSW |
13 |
68,732,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Fastkd3
|
UTSW |
13 |
68,731,835 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8932:Fastkd3
|
UTSW |
13 |
68,731,835 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9051:Fastkd3
|
UTSW |
13 |
68,733,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Fastkd3
|
UTSW |
13 |
68,735,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCAAGGTGCGAGTTGTGAGAC -3'
(R):5'- ACTGGCAAACAACGATCTCTGAGAC -3'
Sequencing Primer
(F):5'- TTTGCTCCAGAGGAGATCAC -3'
(R):5'- CGATCTCTGAGACTACGTCGAAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation