Incidental Mutation 'R4326:Fastkd2'
ID |
324346 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fastkd2
|
Ensembl Gene |
ENSMUSG00000025962 |
Gene Name |
FAST kinase domains 2 |
Synonyms |
2810421I24Rik |
MMRRC Submission |
041096-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4326 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
63769758-63792544 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 63791516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 675
(K675E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027102]
[ENSMUST00000027103]
|
AlphaFold |
Q922E6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027102
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027103
AA Change: K675E
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000027103 Gene: ENSMUSG00000025962 AA Change: K675E
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
|
Meta Mutation Damage Score |
0.3333 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
98% (57/58) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
A |
G |
3: 121,555,119 (GRCm39) |
V616A |
probably benign |
Het |
Abhd17a |
A |
G |
10: 80,419,884 (GRCm39) |
S241P |
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
Armc3 |
A |
G |
2: 19,305,284 (GRCm39) |
K681E |
probably damaging |
Het |
Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
Atxn1 |
T |
C |
13: 46,119,443 (GRCm39) |
|
probably benign |
Het |
C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
Capn13 |
C |
A |
17: 73,638,103 (GRCm39) |
K433N |
probably benign |
Het |
Ccdc113 |
G |
A |
8: 96,283,896 (GRCm39) |
M323I |
probably benign |
Het |
Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,971,066 (GRCm39) |
V2707M |
probably benign |
Het |
Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
Gid4 |
G |
A |
11: 60,308,662 (GRCm39) |
V61M |
possibly damaging |
Het |
Glt28d2 |
G |
A |
3: 85,779,393 (GRCm39) |
Q27* |
probably null |
Het |
Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
Isx |
A |
G |
8: 75,600,284 (GRCm39) |
I6V |
probably benign |
Het |
Itsn1 |
A |
G |
16: 91,650,743 (GRCm39) |
|
probably benign |
Het |
Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
Krt80 |
C |
T |
15: 101,250,189 (GRCm39) |
V19M |
possibly damaging |
Het |
Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,137,510 (GRCm39) |
E504D |
possibly damaging |
Het |
Lpcat4 |
G |
A |
2: 112,076,737 (GRCm39) |
E454K |
probably benign |
Het |
Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
Noxo1 |
G |
A |
17: 24,917,937 (GRCm39) |
R81H |
probably benign |
Het |
Or10ab4 |
T |
C |
7: 107,654,362 (GRCm39) |
Y58H |
probably damaging |
Het |
Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
Pak1ip1 |
A |
G |
13: 41,158,232 (GRCm39) |
D35G |
possibly damaging |
Het |
Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
Ppp2r2d |
T |
A |
7: 138,470,214 (GRCm39) |
V25D |
probably damaging |
Het |
Prdm15 |
G |
T |
16: 97,607,715 (GRCm39) |
N709K |
probably damaging |
Het |
Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
Rrs1 |
G |
T |
1: 9,616,566 (GRCm39) |
R273L |
possibly damaging |
Het |
Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
Spen |
T |
G |
4: 141,204,683 (GRCm39) |
N1315H |
unknown |
Het |
Ssrp1 |
A |
G |
2: 84,870,561 (GRCm39) |
|
probably benign |
Het |
St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
Syne2 |
C |
A |
12: 75,999,516 (GRCm39) |
A2304E |
probably damaging |
Het |
Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
Wdr90 |
G |
T |
17: 26,072,705 (GRCm39) |
R884S |
probably benign |
Het |
Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
probably benign |
Het |
Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
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 |
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 |
R5012:Fastkd2
|
UTSW |
1 |
63,789,055 (GRCm39) |
intron |
probably benign |
|
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'- TCAGAATATGAACATGTGCATGGTG -3'
(R):5'- GGCTCTTCTGAAGTGTTTCCAG -3'
Sequencing Primer
(F):5'- GAACATGTGCATGGTGATATTTAATC -3'
(R):5'- GTGTTTCCAGTGTGTTCCAAAATACC -3'
|
Posted On |
2015-06-24 |