Incidental Mutation 'R5012:Fastkd2'
| ID |
390560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fastkd2
|
| Ensembl Gene |
ENSMUSG00000025962 |
| Gene Name |
FAST kinase domains 2 |
| Synonyms |
2810421I24Rik |
| MMRRC Submission |
042603-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5012 (G1)
|
| Quality Score |
166 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
63769758-63792544 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 63789055 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
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 90.9%
|
| Validation Efficiency |
98% (45/46) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
A |
19: 3,767,217 (GRCm39) |
T268K |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Acsl1 |
A |
G |
8: 46,974,468 (GRCm39) |
S314G |
probably benign |
Het |
| Aftph |
G |
A |
11: 20,648,264 (GRCm39) |
|
probably benign |
Het |
| Ankrd34c |
T |
G |
9: 89,611,709 (GRCm39) |
I211L |
probably benign |
Het |
| Anks1b |
A |
G |
10: 90,194,999 (GRCm39) |
T560A |
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,403 (GRCm39) |
S1247R |
possibly damaging |
Het |
| Elf1 |
T |
A |
14: 79,808,174 (GRCm39) |
Y172N |
probably damaging |
Het |
| Emx1 |
C |
T |
6: 85,180,955 (GRCm39) |
P224L |
probably benign |
Het |
| Fbxw27 |
C |
A |
9: 109,602,271 (GRCm39) |
C234F |
probably benign |
Het |
| Grn |
C |
A |
11: 102,321,380 (GRCm39) |
|
probably benign |
Het |
| Igkv6-23 |
C |
A |
6: 70,237,529 (GRCm39) |
A71S |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,226,143 (GRCm39) |
L2510P |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,898,802 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
C |
A |
5: 25,504,710 (GRCm39) |
G122* |
probably null |
Het |
| Lamtor2 |
C |
T |
3: 88,460,163 (GRCm39) |
R3H |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,670,618 (GRCm39) |
T321S |
probably damaging |
Het |
| Mau2 |
A |
G |
8: 70,484,107 (GRCm39) |
|
probably null |
Het |
| Mcm7 |
A |
T |
5: 138,167,609 (GRCm39) |
|
probably null |
Het |
| Mitd1 |
A |
T |
1: 37,924,374 (GRCm39) |
C59S |
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,216,570 (GRCm39) |
L2636P |
possibly damaging |
Het |
| Paip1 |
A |
G |
13: 119,584,338 (GRCm39) |
M233V |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,029 (GRCm39) |
T453N |
possibly damaging |
Het |
| Plcb1 |
A |
G |
2: 135,175,320 (GRCm39) |
N545S |
probably null |
Het |
| Prl8a9 |
A |
T |
13: 27,746,594 (GRCm39) |
|
probably null |
Het |
| Psmc2 |
A |
G |
5: 22,007,563 (GRCm39) |
T308A |
probably benign |
Het |
| Rassf2 |
C |
A |
2: 131,851,610 (GRCm39) |
R44L |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,609,944 (GRCm39) |
M968K |
probably benign |
Het |
| Septin4 |
T |
A |
11: 87,475,230 (GRCm39) |
S146T |
possibly damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,137,127 (GRCm39) |
I260T |
probably benign |
Het |
| Steap2 |
G |
C |
5: 5,727,784 (GRCm39) |
L184V |
possibly damaging |
Het |
| Ttll5 |
G |
A |
12: 85,973,618 (GRCm39) |
E776K |
possibly damaging |
Het |
| Vipr1 |
A |
T |
9: 121,487,111 (GRCm39) |
|
probably null |
Het |
| Yars2 |
T |
C |
16: 16,121,448 (GRCm39) |
S201P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,864 (GRCm39) |
I194K |
probably benign |
Het |
| Zfp988 |
A |
G |
4: 147,416,060 (GRCm39) |
I165V |
probably benign |
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 |
|
R1115:Fastkd2
|
UTSW |
1 |
63,787,114 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
PCR Primer
(F):5'- GGATACTAACAGGACCCAAGTATTTTC -3'
(R):5'- GATGCCTCAAGTTTATGGTCAC -3'
Sequencing Primer
(F):5'- CAGGACCCAAGTATTTTCATTTTCTG -3'
(R):5'- GCTGAAGTTTACACTGCATCGACAG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation