Incidental Mutation 'IGL02352:Cdk5rap3'
| ID |
289543 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdk5rap3
|
| Ensembl Gene |
ENSMUSG00000018669 |
| Gene Name |
CDK5 regulatory subunit associated protein 3 |
| Synonyms |
HSF-27, MST016, OK/SW-cl.114, 1810007E24Rik, C53, IC53 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96798252-96807322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96807003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 9
(I9N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103152]
[ENSMUST00000127048]
[ENSMUST00000130774]
[ENSMUST00000134732]
[ENSMUST00000147573]
[ENSMUST00000153305]
[ENSMUST00000144731]
[ENSMUST00000156315]
|
| AlphaFold |
Q99LM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103152
AA Change: I9N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: I9N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
4 |
500 |
3.7e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127048
|
| SMART Domains |
Protein: ENSMUSP00000114849
Gene: ENSMUSG00000018669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
145 |
1.4e-80 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130767
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130774
|
| SMART Domains |
Protein: ENSMUSP00000114661
Gene: ENSMUSG00000018669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
80 |
1.6e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134436
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134732
AA Change: I9N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669
AA Change: I9N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
107 |
4.7e-59 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000147573
AA Change: I9N
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153305
AA Change: I9N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669
AA Change: I9N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
115 |
4.2e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149033
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144731
|
| SMART Domains |
Protein: ENSMUSP00000114724
Gene: ENSMUSG00000018669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
124 |
9.8e-70 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156315
|
| SMART Domains |
Protein: ENSMUSP00000123113
Gene: ENSMUSG00000018669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
140 |
2.2e-79 |
PFAM |
|
| 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 protein that has been reported to function in signaling pathways governing transcriptional regulation and cell cycle progression. It may play a role in tumorigenesis and metastasis. A pseudogene of this gene is located on the long arm of chromosome 20. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
A |
C |
12: 72,941,829 (GRCm39) |
|
probably null |
Het |
| Abca5 |
T |
A |
11: 110,166,156 (GRCm39) |
N1540I |
probably benign |
Het |
| Adamtsl5 |
T |
A |
10: 80,179,562 (GRCm39) |
|
probably null |
Het |
| Aldh2 |
T |
C |
5: 121,713,960 (GRCm39) |
E128G |
probably null |
Het |
| Anln |
A |
G |
9: 22,279,708 (GRCm39) |
V494A |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,715,288 (GRCm39) |
L50* |
probably null |
Het |
| Atp13a3 |
A |
G |
16: 30,169,902 (GRCm39) |
I392T |
probably damaging |
Het |
| C1qtnf5 |
A |
G |
9: 44,019,631 (GRCm39) |
E85G |
possibly damaging |
Het |
| Cacna1s |
A |
T |
1: 136,020,990 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
G |
A |
1: 54,311,680 (GRCm39) |
R222H |
probably benign |
Het |
| Cmip |
A |
T |
8: 118,137,994 (GRCm39) |
|
probably benign |
Het |
| Cyp21a1 |
A |
G |
17: 35,023,196 (GRCm39) |
Y60H |
probably damaging |
Het |
| Cyp2d11 |
A |
G |
15: 82,278,121 (GRCm39) |
W10R |
possibly damaging |
Het |
| Dock10 |
A |
G |
1: 80,483,378 (GRCm39) |
Y2076H |
probably damaging |
Het |
| Dpcd |
G |
T |
19: 45,565,493 (GRCm39) |
A156S |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,263,706 (GRCm39) |
N748S |
probably benign |
Het |
| Fam227b |
A |
G |
2: 125,988,174 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,540,073 (GRCm39) |
I654N |
probably damaging |
Het |
| Hpf1 |
A |
G |
8: 61,349,836 (GRCm39) |
I155V |
probably benign |
Het |
| Hrh1 |
C |
A |
6: 114,457,404 (GRCm39) |
N228K |
probably benign |
Het |
| Igkv3-2 |
T |
C |
6: 70,675,474 (GRCm39) |
L8P |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,009,267 (GRCm39) |
F734L |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,079,370 (GRCm39) |
Y276C |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,208 (GRCm39) |
S178T |
possibly damaging |
Het |
| Marchf6 |
C |
T |
15: 31,509,905 (GRCm39) |
C28Y |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,081,931 (GRCm39) |
T356A |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,891,853 (GRCm39) |
E6893G |
probably benign |
Het |
| Or2l13 |
T |
C |
16: 19,305,927 (GRCm39) |
L113P |
probably damaging |
Het |
| Pate7 |
A |
T |
9: 35,689,180 (GRCm39) |
M1K |
probably null |
Het |
| Pgap2 |
G |
T |
7: 101,885,346 (GRCm39) |
V71F |
probably damaging |
Het |
| Prob1 |
T |
G |
18: 35,785,893 (GRCm39) |
E787A |
possibly damaging |
Het |
| Psmd2 |
C |
A |
16: 20,475,691 (GRCm39) |
D430E |
probably benign |
Het |
| Reln |
C |
A |
5: 22,244,563 (GRCm39) |
G805V |
possibly damaging |
Het |
| Serpinb9e |
A |
T |
13: 33,441,803 (GRCm39) |
|
probably benign |
Het |
| Sgsm2 |
G |
T |
11: 74,782,900 (GRCm39) |
|
probably benign |
Het |
| Slc38a9 |
A |
G |
13: 112,826,720 (GRCm39) |
I153V |
probably benign |
Het |
| Slco1b2 |
T |
A |
6: 141,631,251 (GRCm39) |
D628E |
probably damaging |
Het |
| Sult2a5 |
T |
C |
7: 13,362,727 (GRCm39) |
S145P |
probably benign |
Het |
| Sv2b |
T |
C |
7: 74,786,197 (GRCm39) |
T408A |
probably benign |
Het |
| Usp24 |
T |
C |
4: 106,261,122 (GRCm39) |
C1626R |
probably damaging |
Het |
| Wdr43 |
C |
T |
17: 71,939,043 (GRCm39) |
T217M |
possibly damaging |
Het |
| Wdr95 |
G |
A |
5: 149,504,084 (GRCm39) |
V155M |
probably damaging |
Het |
| Wsb1 |
G |
A |
11: 79,141,838 (GRCm39) |
L60F |
probably damaging |
Het |
| Wwp2 |
C |
T |
8: 108,267,278 (GRCm39) |
R297* |
probably null |
Het |
| Xkr6 |
T |
C |
14: 64,057,156 (GRCm39) |
Y356H |
unknown |
Het |
|
| Other mutations in Cdk5rap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00587:Cdk5rap3
|
APN |
11 |
96,804,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00958:Cdk5rap3
|
APN |
11 |
96,800,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00964:Cdk5rap3
|
APN |
11 |
96,800,765 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01767:Cdk5rap3
|
APN |
11 |
96,804,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02321:Cdk5rap3
|
APN |
11 |
96,804,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Cdk5rap3
|
UTSW |
11 |
96,799,579 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0894:Cdk5rap3
|
UTSW |
11 |
96,799,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1795:Cdk5rap3
|
UTSW |
11 |
96,799,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Cdk5rap3
|
UTSW |
11 |
96,806,911 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5530:Cdk5rap3
|
UTSW |
11 |
96,802,459 (GRCm39) |
nonsense |
probably null |
|
|
R5782:Cdk5rap3
|
UTSW |
11 |
96,802,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6278:Cdk5rap3
|
UTSW |
11 |
96,802,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Cdk5rap3
|
UTSW |
11 |
96,807,018 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7526:Cdk5rap3
|
UTSW |
11 |
96,800,771 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8197:Cdk5rap3
|
UTSW |
11 |
96,806,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8784:Cdk5rap3
|
UTSW |
11 |
96,803,212 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Cdk5rap3
|
UTSW |
11 |
96,803,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation