Incidental Mutation 'R4153:Fastkd3'
| ID |
315004 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd3
|
| Ensembl Gene |
ENSMUSG00000021532 |
| Gene Name |
FAST kinase domains 3 |
| Synonyms |
2310010B21Rik |
| MMRRC Submission |
040997-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R4153 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
68730353-68740457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68738257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 602
(F602S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051784]
[ENSMUST00000223319]
|
| AlphaFold |
Q8BSN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051784
AA Change: F602S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
AA Change: F602S
| 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 |
noncoding transcript
Transcript: ENSMUST00000221006
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000221640
AA Change: F5S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222068
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223128
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223319
|
| Meta Mutation Damage Score |
0.9603 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
| 4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
| Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
| Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
| Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
| Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
| Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or56a3b |
A |
T |
7: 104,771,516 (GRCm39) |
H284L |
probably damaging |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,445,766 (GRCm39) |
V126I |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
| Rbpj |
T |
A |
5: 53,806,789 (GRCm39) |
H230Q |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
| Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Tubd1 |
G |
A |
11: 86,440,296 (GRCm39) |
G107S |
probably damaging |
Het |
| Ugt1a6a |
A |
G |
1: 88,066,193 (GRCm39) |
|
probably null |
Het |
| Uty |
A |
G |
Y: 1,158,327 (GRCm39) |
V572A |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
probably null |
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 |
|
|
R1282:Fastkd3
|
UTSW |
13 |
68,732,676 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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 |
|
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'- CGAGTGAAAATAAATGCTGAACCTATC -3'
(R):5'- TTCCAGTAAAGTCTTCAGAGTTGG -3'
Sequencing Primer
(F):5'- GAACCTATCAGTTTGGGAAAAATCC -3'
(R):5'- AAAGTCTTCAGAGTTGGACTGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation