Incidental Mutation 'IGL03278:Cdk5rap1'
| ID |
415495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdk5rap1
|
| Ensembl Gene |
ENSMUSG00000027487 |
| Gene Name |
CDK5 regulatory subunit associated protein 1 |
| Synonyms |
2310066P17Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.366)
|
| Stock # |
IGL03278
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
154177300-154214930 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154212622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 79
(S79T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105353
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028990]
[ENSMUST00000109730]
[ENSMUST00000109731]
|
| AlphaFold |
Q8BTW8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028990
AA Change: S79T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000028990
Gene: ENSMUSG00000027487
AA Change: S79T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0004
|
100 |
203 |
3.2e-31 |
PFAM |
|
Elp3
|
247 |
486 |
4.83e-52 |
SMART |
|
Pfam:TRAM
|
500 |
574 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109730
AA Change: S79T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105352
Gene: ENSMUSG00000027487
AA Change: S79T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0004
|
100 |
181 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109731
AA Change: S79T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000105353
Gene: ENSMUSG00000027487
AA Change: S79T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0004
|
100 |
203 |
1.1e-31 |
PFAM |
|
Elp3
|
247 |
486 |
4.83e-52 |
SMART |
|
Pfam:TRAM
|
500 |
574 |
1e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137918
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148289
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150308
|
| 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 regulator of cyclin-dependent kinase 5 activity. This protein has also been reported to modify RNA by adding a methylthio-group and may thus have a dual function as an RNA methylthiotransferase and as an inhibitor of cyclin-dependent kinase 5 activity. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a null allele show deficient mitochondrial tRNA modification, reduced mitochondrial protein synthesis, defects in oxidative phosphorylation, high susceptibility to stress-induced mitochondrial remodeling, and accelerated myopathy and cardiac dysfunction under stressed conditions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,205,599 (GRCm39) |
|
probably benign |
Het |
| Acss2 |
A |
G |
2: 155,403,921 (GRCm39) |
D676G |
possibly damaging |
Het |
| Antxr1 |
A |
G |
6: 87,181,439 (GRCm39) |
|
probably benign |
Het |
| Ccdc134 |
C |
T |
15: 82,015,682 (GRCm39) |
A54V |
possibly damaging |
Het |
| Ccdc40 |
A |
T |
11: 119,133,336 (GRCm39) |
I465F |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,586,651 (GRCm39) |
E1790G |
probably benign |
Het |
| Cops8 |
C |
A |
1: 90,532,087 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,536,124 (GRCm39) |
T2640A |
probably benign |
Het |
| F2 |
G |
A |
2: 91,465,527 (GRCm39) |
A86V |
probably benign |
Het |
| Fhip1b |
C |
A |
7: 105,034,331 (GRCm39) |
M433I |
possibly damaging |
Het |
| Gabrb1 |
T |
G |
5: 72,026,939 (GRCm39) |
D113E |
probably damaging |
Het |
| Git2 |
C |
A |
5: 114,883,640 (GRCm39) |
|
probably benign |
Het |
| Git2 |
A |
T |
5: 114,883,641 (GRCm39) |
|
probably null |
Het |
| Gm4847 |
A |
T |
1: 166,462,605 (GRCm39) |
I295N |
probably benign |
Het |
| H2-M10.6 |
C |
A |
17: 37,124,715 (GRCm39) |
H211N |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,793,270 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,934,882 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,093,381 (GRCm39) |
E634G |
possibly damaging |
Het |
| Nanog |
A |
G |
6: 122,688,704 (GRCm39) |
Y95C |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nfe2l1 |
C |
A |
11: 96,713,018 (GRCm39) |
R55L |
probably benign |
Het |
| Or1f19 |
C |
T |
16: 3,410,971 (GRCm39) |
A237V |
possibly damaging |
Het |
| Pkmyt1 |
A |
G |
17: 23,953,221 (GRCm39) |
E259G |
probably damaging |
Het |
| Pld4 |
A |
G |
12: 112,733,165 (GRCm39) |
N247S |
probably damaging |
Het |
| Prdm4 |
A |
T |
10: 85,743,622 (GRCm39) |
M211K |
probably damaging |
Het |
| Rab37 |
A |
C |
11: 115,050,517 (GRCm39) |
I121L |
possibly damaging |
Het |
| Rabl6 |
T |
C |
2: 25,473,834 (GRCm39) |
|
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,122,059 (GRCm39) |
V154E |
probably benign |
Het |
| Slc38a9 |
T |
G |
13: 112,826,052 (GRCm39) |
|
probably benign |
Het |
| Sptlc3 |
G |
A |
2: 139,431,579 (GRCm39) |
G367D |
probably damaging |
Het |
| Stk24 |
T |
C |
14: 121,540,182 (GRCm39) |
K139R |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,335,298 (GRCm39) |
|
probably null |
Het |
| Tap1 |
A |
T |
17: 34,410,457 (GRCm39) |
K378M |
probably damaging |
Het |
| Tfr2 |
A |
T |
5: 137,569,298 (GRCm39) |
R10* |
probably null |
Het |
| Trim38 |
A |
G |
13: 23,974,979 (GRCm39) |
D306G |
possibly damaging |
Het |
| Ttc6 |
A |
T |
12: 57,668,812 (GRCm39) |
K418I |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,581,313 (GRCm39) |
L3731Q |
probably damaging |
Het |
| Vmn2r89 |
A |
T |
14: 51,692,557 (GRCm39) |
Y120F |
probably damaging |
Het |
| Vps35 |
A |
T |
8: 86,021,590 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cdk5rap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01778:Cdk5rap1
|
APN |
2 |
154,207,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02162:Cdk5rap1
|
APN |
2 |
154,177,489 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02626:Cdk5rap1
|
APN |
2 |
154,207,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1052:Cdk5rap1
|
UTSW |
2 |
154,202,519 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1333:Cdk5rap1
|
UTSW |
2 |
154,202,574 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1552:Cdk5rap1
|
UTSW |
2 |
154,212,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1553:Cdk5rap1
|
UTSW |
2 |
154,194,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Cdk5rap1
|
UTSW |
2 |
154,195,166 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3946:Cdk5rap1
|
UTSW |
2 |
154,190,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4126:Cdk5rap1
|
UTSW |
2 |
154,210,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Cdk5rap1
|
UTSW |
2 |
154,203,755 (GRCm39) |
makesense |
probably null |
|
|
R4865:Cdk5rap1
|
UTSW |
2 |
154,212,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4866:Cdk5rap1
|
UTSW |
2 |
154,212,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4867:Cdk5rap1
|
UTSW |
2 |
154,212,876 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4946:Cdk5rap1
|
UTSW |
2 |
154,210,794 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5087:Cdk5rap1
|
UTSW |
2 |
154,184,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5319:Cdk5rap1
|
UTSW |
2 |
154,177,489 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5383:Cdk5rap1
|
UTSW |
2 |
154,192,755 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5582:Cdk5rap1
|
UTSW |
2 |
154,187,894 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5780:Cdk5rap1
|
UTSW |
2 |
154,187,788 (GRCm39) |
frame shift |
probably null |
|
|
R6262:Cdk5rap1
|
UTSW |
2 |
154,212,606 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6274:Cdk5rap1
|
UTSW |
2 |
154,210,161 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7263:Cdk5rap1
|
UTSW |
2 |
154,202,652 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7388:Cdk5rap1
|
UTSW |
2 |
154,202,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Cdk5rap1
|
UTSW |
2 |
154,196,036 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8424:Cdk5rap1
|
UTSW |
2 |
154,187,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Cdk5rap1
|
UTSW |
2 |
154,195,148 (GRCm39) |
nonsense |
probably null |
|
|
R9295:Cdk5rap1
|
UTSW |
2 |
154,194,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9413:Cdk5rap1
|
UTSW |
2 |
154,207,880 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9453:Cdk5rap1
|
UTSW |
2 |
154,190,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Cdk5rap1
|
UTSW |
2 |
154,192,756 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2016-08-02 |
Incidental Mutation