Incidental Mutation 'IGL03412:Fastkd3'
| ID |
421839 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fastkd3
|
| Ensembl Gene |
ENSMUSG00000021532 |
| Gene Name |
FAST kinase domains 3 |
| Synonyms |
2310010B21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
IGL03412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
68730353-68740457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68731840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 54
(R54G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152635
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045827]
[ENSMUST00000051784]
[ENSMUST00000220973]
[ENSMUST00000221259]
[ENSMUST00000222660]
[ENSMUST00000223187]
[ENSMUST00000223319]
[ENSMUST00000222631]
[ENSMUST00000223398]
[ENSMUST00000222107]
[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 |
probably benign
Transcript: ENSMUST00000051784
AA Change: R54G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000061737
Gene: ENSMUSG00000021532
AA Change: R54G
| 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 |
probably benign
Transcript: ENSMUST00000222660
AA Change: R54G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223187
AA Change: R54G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223319
AA Change: R54G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222631
AA Change: R54G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223398
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222685
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222107
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223101
|
| 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 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
A |
T |
12: 113,455,390 (GRCm39) |
R736* |
probably null |
Het |
| Agpat2 |
T |
C |
2: 26,483,673 (GRCm39) |
T255A |
probably benign |
Het |
| Akap3 |
G |
A |
6: 126,841,688 (GRCm39) |
M102I |
probably benign |
Het |
| Cd300lb |
C |
A |
11: 114,819,206 (GRCm39) |
R5M |
probably damaging |
Het |
| Chrna5 |
A |
T |
9: 54,911,719 (GRCm39) |
D69V |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,249,508 (GRCm39) |
|
probably null |
Het |
| Dnajb12 |
A |
T |
10: 59,725,895 (GRCm39) |
H60L |
probably benign |
Het |
| Dnal1 |
T |
A |
12: 84,182,441 (GRCm39) |
M1K |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,180,101 (GRCm39) |
V655M |
possibly damaging |
Het |
| Fbln2 |
G |
A |
6: 91,248,763 (GRCm39) |
D1143N |
probably damaging |
Het |
| Flii |
C |
T |
11: 60,613,466 (GRCm39) |
V174M |
probably damaging |
Het |
| Gtf2h4 |
T |
C |
17: 35,979,375 (GRCm39) |
I388M |
probably damaging |
Het |
| Il20rb |
A |
G |
9: 100,357,049 (GRCm39) |
V27A |
probably benign |
Het |
| Kidins220 |
T |
C |
12: 25,049,344 (GRCm39) |
S320P |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,359,396 (GRCm39) |
S114G |
probably benign |
Het |
| Lama3 |
T |
C |
18: 12,552,239 (GRCm39) |
V397A |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,016,746 (GRCm39) |
V356D |
probably damaging |
Het |
| Mcpt9 |
T |
G |
14: 56,265,484 (GRCm39) |
T72P |
probably damaging |
Het |
| Mmd |
T |
C |
11: 90,148,429 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
G |
A |
15: 4,973,854 (GRCm39) |
R1124Q |
probably benign |
Het |
| Mvp |
T |
C |
7: 126,592,735 (GRCm39) |
D392G |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,398,927 (GRCm39) |
|
probably null |
Het |
| Myh2 |
A |
G |
11: 67,080,395 (GRCm39) |
H1203R |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,281,726 (GRCm39) |
C816* |
probably null |
Het |
| Or4a70 |
T |
A |
2: 89,324,555 (GRCm39) |
I34F |
probably benign |
Het |
| Or5an6 |
A |
T |
19: 12,371,743 (GRCm39) |
T39S |
probably damaging |
Het |
| Pcdh12 |
C |
T |
18: 38,416,568 (GRCm39) |
V186M |
probably benign |
Het |
| Pik3c2a |
C |
T |
7: 116,017,074 (GRCm39) |
E228K |
probably benign |
Het |
| Plcz1 |
A |
C |
6: 139,961,823 (GRCm39) |
Y243D |
probably damaging |
Het |
| Rspo3 |
T |
A |
10: 29,411,270 (GRCm39) |
I19F |
possibly damaging |
Het |
| Slc2a12 |
T |
C |
10: 22,540,868 (GRCm39) |
L241P |
probably damaging |
Het |
| Slc4a10 |
G |
A |
2: 62,080,887 (GRCm39) |
|
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,525,120 (GRCm39) |
T209S |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,203,848 (GRCm39) |
D549G |
probably damaging |
Het |
| Srsf12 |
G |
A |
4: 33,230,929 (GRCm39) |
R141Q |
probably damaging |
Het |
| Stab1 |
T |
G |
14: 30,876,364 (GRCm39) |
E908D |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,494,074 (GRCm39) |
M634L |
probably benign |
Het |
| Tex21 |
A |
G |
12: 76,291,780 (GRCm39) |
|
probably null |
Het |
| Tsc2 |
C |
A |
17: 24,816,042 (GRCm39) |
R1715L |
probably damaging |
Het |
| Ttll4 |
A |
G |
1: 74,726,480 (GRCm39) |
I693V |
probably benign |
Het |
| Vmn1r5 |
A |
T |
6: 56,962,918 (GRCm39) |
M198L |
possibly damaging |
Het |
| Vmn1r50 |
T |
C |
6: 90,085,007 (GRCm39) |
Y251H |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,862 (GRCm39) |
I651T |
probably benign |
Het |
| Wdr3 |
G |
T |
3: 100,059,293 (GRCm39) |
T342K |
probably benign |
Het |
| Zbtb44 |
A |
G |
9: 30,964,763 (GRCm39) |
T58A |
probably benign |
Het |
| Zeb2 |
A |
G |
2: 44,892,720 (GRCm39) |
|
probably benign |
Het |
| Zmym2 |
C |
T |
14: 57,197,176 (GRCm39) |
Q1315* |
probably null |
Het |
| Zmym6 |
T |
C |
4: 126,986,731 (GRCm39) |
I137T |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation