Incidental Mutation 'R5035:Cdk5rap3'
| ID |
389512 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96798252-96807322 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 96806911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123113
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103152]
[ENSMUST00000127048]
[ENSMUST00000130774]
[ENSMUST00000134732]
[ENSMUST00000147573]
[ENSMUST00000156315]
[ENSMUST00000153305]
[ENSMUST00000144731]
|
| AlphaFold |
Q99LM2 |
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000131501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134436
|
| 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 |
unknown
Transcript: ENSMUST00000147573
AA Change: T40A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149033
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (46/47) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,903 (GRCm39) |
D122G |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
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 |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAGGTTTCAAATGGATCAGCC -3'
(R):5'- GTTGGACTCGTGGAATGAGC -3'
Sequencing Primer
(F):5'- TGCTTAACTGTCCATCTTTAACAC -3'
(R):5'- CGTGGAATGAGCGCGCG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation