Incidental Mutation 'IGL00964:Cdk5rap3'
| ID |
28611 |
| 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 # |
IGL00964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96798252-96807322 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 96800765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103152]
[ENSMUST00000127048]
[ENSMUST00000130774]
[ENSMUST00000134732]
[ENSMUST00000144731]
[ENSMUST00000147573]
[ENSMUST00000156315]
[ENSMUST00000153305]
|
| AlphaFold |
Q99LM2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000103152
|
| SMART Domains |
Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
| 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 |
probably benign
Transcript: ENSMUST00000134732
|
| SMART Domains |
Protein: ENSMUSP00000120258
Gene: ENSMUSG00000018669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
107 |
4.7e-59 |
PFAM |
|
| 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: ENSMUST00000147573
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154289
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153305
|
| SMART Domains |
Protein: ENSMUSP00000116405
Gene: ENSMUSG00000018669
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF773
|
1 |
115 |
4.2e-71 |
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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008O03Rik |
T |
A |
7: 44,009,610 (GRCm39) |
*197C |
probably null |
Het |
| Acsl6 |
A |
G |
11: 54,216,472 (GRCm39) |
Y213C |
probably damaging |
Het |
| Agt |
T |
C |
8: 125,284,634 (GRCm39) |
|
probably benign |
Het |
| Aifm3 |
A |
G |
16: 17,318,228 (GRCm39) |
D144G |
probably damaging |
Het |
| Alad |
T |
C |
4: 62,432,330 (GRCm39) |
I32V |
probably benign |
Het |
| Astn2 |
T |
A |
4: 66,103,424 (GRCm39) |
M330L |
unknown |
Het |
| AU040320 |
T |
A |
4: 126,748,199 (GRCm39) |
C1029* |
probably null |
Het |
| Brca2 |
T |
A |
5: 150,455,775 (GRCm39) |
I172N |
probably damaging |
Het |
| Brme1 |
T |
C |
8: 84,893,343 (GRCm39) |
I170T |
probably benign |
Het |
| Dusp26 |
G |
T |
8: 31,584,136 (GRCm39) |
R81L |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,174,881 (GRCm39) |
|
probably benign |
Het |
| Ehd4 |
A |
G |
2: 119,958,163 (GRCm39) |
C141R |
probably benign |
Het |
| Ftsj3 |
G |
T |
11: 106,143,941 (GRCm39) |
A261D |
probably benign |
Het |
| Gm5431 |
G |
A |
11: 48,780,094 (GRCm39) |
T554I |
probably damaging |
Het |
| Hyls1 |
A |
G |
9: 35,473,408 (GRCm39) |
|
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,421,518 (GRCm39) |
T124S |
possibly damaging |
Het |
| Ints10 |
T |
A |
8: 69,264,638 (GRCm39) |
I457N |
probably damaging |
Het |
| Klk1b1 |
T |
G |
7: 43,620,593 (GRCm39) |
S228A |
possibly damaging |
Het |
| Lpar2 |
T |
C |
8: 70,279,162 (GRCm39) |
S319P |
probably benign |
Het |
| Lsr |
T |
C |
7: 30,671,421 (GRCm39) |
N104S |
probably damaging |
Het |
| Mybpc1 |
T |
A |
10: 88,391,604 (GRCm39) |
|
probably null |
Het |
| Nalcn |
T |
A |
14: 123,532,796 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
G |
A |
2: 144,147,599 (GRCm39) |
A217V |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,415,784 (GRCm39) |
Q447L |
probably benign |
Het |
| Pdgfra |
T |
C |
5: 75,335,726 (GRCm39) |
I453T |
probably damaging |
Het |
| Ptprd |
C |
T |
4: 75,916,793 (GRCm39) |
W1037* |
probably null |
Het |
| Rabgef1 |
T |
C |
5: 130,219,863 (GRCm39) |
S109P |
probably damaging |
Het |
| Rev3l |
T |
C |
10: 39,740,802 (GRCm39) |
I2995T |
probably benign |
Het |
| Slamf6 |
T |
A |
1: 171,745,347 (GRCm39) |
C25S |
probably null |
Het |
| Slc28a2b |
A |
T |
2: 122,347,527 (GRCm39) |
Q229H |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,248,714 (GRCm39) |
N520T |
probably damaging |
Het |
| Spr-ps1 |
C |
A |
6: 85,132,016 (GRCm39) |
|
noncoding transcript |
Het |
| Stx4a |
A |
G |
7: 127,441,898 (GRCm39) |
Q92R |
probably benign |
Het |
| Tab2 |
A |
C |
10: 7,785,837 (GRCm39) |
V638G |
probably benign |
Het |
| Trim41 |
C |
A |
11: 48,703,190 (GRCm39) |
R79S |
possibly damaging |
Het |
| Ttll5 |
A |
G |
12: 85,896,057 (GRCm39) |
Y135C |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,404,203 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
T |
A |
17: 5,762,756 (GRCm39) |
L220Q |
probably damaging |
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 |
|
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 |
|
IGL02352:Cdk5rap3
|
APN |
11 |
96,807,003 (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 |
2013-04-17 |
Incidental Mutation