Incidental Mutation 'R6034:Fastkd3'
ID |
480575 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fastkd3
|
Ensembl Gene |
ENSMUSG00000021532 |
Gene Name |
FAST kinase domains 3 |
Synonyms |
2310010B21Rik |
MMRRC Submission |
044206-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R6034 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
68730353-68740457 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 68731729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 17
(W17R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152573
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045827]
[ENSMUST00000051784]
[ENSMUST00000220973]
[ENSMUST00000221259]
[ENSMUST00000222660]
[ENSMUST00000222631]
[ENSMUST00000223319]
[ENSMUST00000223187]
[ENSMUST00000223101]
[ENSMUST00000222107]
[ENSMUST00000223398]
|
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 |
probably benign
Transcript: ENSMUST00000051784
AA Change: W17R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061737 Gene: ENSMUSG00000021532 AA Change: W17R
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 |
probably benign
Transcript: ENSMUST00000222660
AA Change: W17R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000222631
AA Change: W17R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223319
AA Change: W17R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223187
AA Change: W17R
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223101
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222068
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222107
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223398
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222685
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.4%
- 20x: 87.0%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef4 |
G |
T |
1: 34,760,984 (GRCm39) |
G80V |
unknown |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Atad2 |
A |
T |
15: 57,971,959 (GRCm39) |
L306Q |
probably damaging |
Het |
Atp2b4 |
T |
A |
1: 133,659,645 (GRCm39) |
|
probably null |
Het |
Atp6v1c2 |
C |
A |
12: 17,357,501 (GRCm39) |
G95V |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,922,278 (GRCm39) |
V2192E |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,542,091 (GRCm39) |
E597G |
probably benign |
Het |
Ccdc40 |
A |
G |
11: 119,133,898 (GRCm39) |
M556V |
possibly damaging |
Het |
Ccin |
G |
A |
4: 43,985,354 (GRCm39) |
R587K |
probably benign |
Het |
Cdipt |
T |
G |
7: 126,577,497 (GRCm39) |
V81G |
probably damaging |
Het |
Cert1 |
A |
C |
13: 96,746,308 (GRCm39) |
I236L |
probably benign |
Het |
Cfh |
T |
C |
1: 140,090,869 (GRCm39) |
K40E |
probably damaging |
Het |
Cps1 |
T |
A |
1: 67,196,872 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
T |
1: 46,496,418 (GRCm39) |
D101V |
probably benign |
Het |
H1f4 |
A |
G |
13: 23,806,296 (GRCm39) |
L62P |
probably damaging |
Het |
H2-Ob |
T |
C |
17: 34,460,192 (GRCm39) |
V30A |
probably damaging |
Het |
Hmgxb3 |
T |
A |
18: 61,265,594 (GRCm39) |
H1128L |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,711 (GRCm39) |
I255N |
probably damaging |
Het |
Imp4 |
A |
G |
1: 34,482,537 (GRCm39) |
D91G |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,944,666 (GRCm39) |
D462E |
possibly damaging |
Het |
Kcnip4 |
G |
T |
5: 48,548,283 (GRCm39) |
R241S |
possibly damaging |
Het |
Lilra5 |
T |
C |
7: 4,245,133 (GRCm39) |
L259P |
probably benign |
Het |
Lipf |
T |
C |
19: 33,942,289 (GRCm39) |
I73T |
probably benign |
Het |
Lsm7 |
T |
C |
10: 80,688,742 (GRCm39) |
|
probably null |
Het |
Luzp2 |
T |
A |
7: 54,816,972 (GRCm39) |
L141M |
probably damaging |
Het |
Malrd1 |
T |
A |
2: 15,850,137 (GRCm39) |
V1252E |
possibly damaging |
Het |
Map10 |
T |
C |
8: 126,399,205 (GRCm39) |
L866P |
probably damaging |
Het |
Mink1 |
AAGCAGCAGCAGCAGCAGCAGCAG |
AAGCAGCAGCAGCAGCAGCAG |
11: 70,497,866 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
C |
11: 101,952,460 (GRCm39) |
I355V |
possibly damaging |
Het |
Mtrf1l |
T |
A |
10: 5,773,834 (GRCm39) |
|
probably benign |
Het |
Myo5c |
A |
T |
9: 75,163,187 (GRCm39) |
T339S |
probably benign |
Het |
Naa15 |
A |
G |
3: 51,350,242 (GRCm39) |
D163G |
probably damaging |
Het |
Oosp2 |
A |
G |
19: 11,628,879 (GRCm39) |
F74S |
probably damaging |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or4f7 |
T |
A |
2: 111,644,702 (GRCm39) |
Y123F |
probably damaging |
Het |
Pard3 |
C |
G |
8: 127,791,077 (GRCm39) |
|
probably benign |
Het |
Pcdha1 |
T |
A |
18: 37,063,651 (GRCm39) |
I105N |
probably damaging |
Het |
Pcdhgb8 |
A |
G |
18: 37,895,601 (GRCm39) |
T224A |
possibly damaging |
Het |
Phf12 |
A |
G |
11: 77,908,895 (GRCm39) |
N325S |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,201,750 (GRCm39) |
|
probably null |
Het |
Raet1e |
A |
G |
10: 22,057,990 (GRCm39) |
*252W |
probably null |
Het |
Sap130 |
T |
C |
18: 31,822,459 (GRCm39) |
V655A |
possibly damaging |
Het |
Sec16b |
A |
T |
1: 157,380,509 (GRCm39) |
K360I |
probably damaging |
Het |
Sec23ip |
C |
T |
7: 128,351,927 (GRCm39) |
T101I |
possibly damaging |
Het |
Selenoo |
A |
G |
15: 88,983,546 (GRCm39) |
K529R |
probably benign |
Het |
Slc22a15 |
A |
G |
3: 101,770,235 (GRCm39) |
F451L |
possibly damaging |
Het |
St6gal2 |
T |
A |
17: 55,789,982 (GRCm39) |
S339T |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,018,965 (GRCm39) |
|
probably null |
Het |
Synm |
A |
G |
7: 67,384,653 (GRCm39) |
V561A |
probably damaging |
Het |
Tc2n |
A |
T |
12: 101,617,460 (GRCm39) |
|
probably null |
Het |
Ugt2b36 |
T |
A |
5: 87,229,377 (GRCm39) |
D236V |
probably damaging |
Het |
Vmn1r65 |
A |
G |
7: 6,011,868 (GRCm39) |
L122P |
probably damaging |
Het |
Zc3h14 |
T |
C |
12: 98,737,632 (GRCm39) |
S40P |
probably benign |
Het |
Zc3hav1l |
C |
A |
6: 38,272,215 (GRCm39) |
G185C |
probably damaging |
Het |
Zfp563 |
G |
A |
17: 33,323,935 (GRCm39) |
A177T |
probably damaging |
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 |
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 |
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 |
|
Posted On |
2017-06-26 |