Incidental Mutation 'R6278:Cdk5rap3'
| ID |
507788 |
| 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 |
044448-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6278 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96798252-96807322 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96802729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 207
(Y207C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103152]
[ENSMUST00000127048]
[ENSMUST00000130774]
[ENSMUST00000134732]
[ENSMUST00000144731]
[ENSMUST00000147573]
[ENSMUST00000153305]
[ENSMUST00000156315]
|
| AlphaFold |
Q99LM2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103152
AA Change: Y207C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099441
Gene: ENSMUSG00000018669
AA Change: Y207C
| 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 |
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 |
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 |
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 |
|
| Meta Mutation Damage Score |
0.9727 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (49/49) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
C |
7: 119,373,072 (GRCm39) |
S192P |
probably damaging |
Het |
| Amy1 |
T |
A |
3: 113,355,339 (GRCm39) |
Y348F |
probably damaging |
Het |
| Brpf3 |
C |
A |
17: 29,040,258 (GRCm39) |
P893H |
probably benign |
Het |
| Cage1 |
T |
C |
13: 38,200,395 (GRCm39) |
T702A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,734,060 (GRCm39) |
|
probably benign |
Het |
| Cenpc1 |
T |
C |
5: 86,183,394 (GRCm39) |
K465R |
probably damaging |
Het |
| Cldn14 |
A |
C |
16: 93,716,486 (GRCm39) |
L120R |
possibly damaging |
Het |
| Cyp2c69 |
A |
T |
19: 39,831,507 (GRCm39) |
C435* |
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,323,046 (GRCm39) |
E1446V |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 118,017,116 (GRCm39) |
D208V |
probably damaging |
Het |
| Eif4g3 |
G |
T |
4: 137,915,394 (GRCm39) |
G1430V |
possibly damaging |
Het |
| Eif5 |
T |
A |
12: 111,509,227 (GRCm39) |
D284E |
probably benign |
Het |
| Fam47e |
T |
C |
5: 92,710,376 (GRCm39) |
L125P |
probably damaging |
Het |
| Far1 |
A |
G |
7: 113,167,344 (GRCm39) |
I476M |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,819,242 (GRCm39) |
I4992L |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,698 (GRCm39) |
N1028K |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,004,941 (GRCm39) |
K615E |
probably damaging |
Het |
| Gykl1 |
G |
T |
18: 52,828,280 (GRCm39) |
S496I |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,573,170 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
A |
13: 114,982,424 (GRCm39) |
H1027L |
probably benign |
Het |
| Kif24 |
A |
T |
4: 41,423,498 (GRCm39) |
V251E |
probably damaging |
Het |
| Nupr1 |
T |
C |
7: 126,224,518 (GRCm39) |
Y30C |
probably damaging |
Het |
| Or5b119 |
T |
A |
19: 13,457,119 (GRCm39) |
M148L |
probably benign |
Het |
| Or5g29 |
A |
G |
2: 85,421,342 (GRCm39) |
I153V |
probably benign |
Het |
| Or5w14 |
A |
T |
2: 87,541,815 (GRCm39) |
L145* |
probably null |
Het |
| Or8g26 |
T |
A |
9: 39,095,594 (GRCm39) |
I40N |
probably damaging |
Het |
| P2ry1 |
T |
A |
3: 60,911,215 (GRCm39) |
I118N |
possibly damaging |
Het |
| Pcdh1 |
C |
T |
18: 38,332,263 (GRCm39) |
V247M |
probably benign |
Het |
| Pdia5 |
A |
G |
16: 35,250,293 (GRCm39) |
V222A |
possibly damaging |
Het |
| Plce1 |
G |
A |
19: 38,713,495 (GRCm39) |
|
probably null |
Het |
| Ppm1m |
T |
C |
9: 106,074,427 (GRCm39) |
R239G |
probably damaging |
Het |
| Pramel30 |
C |
T |
4: 144,056,837 (GRCm39) |
P7S |
probably damaging |
Het |
| Prkcz |
A |
T |
4: 155,352,652 (GRCm39) |
F492I |
probably damaging |
Het |
| Rpl6 |
T |
C |
5: 121,346,912 (GRCm39) |
I269T |
possibly damaging |
Het |
| Scoc |
T |
C |
8: 84,184,965 (GRCm39) |
S2G |
unknown |
Het |
| Spesp1 |
A |
T |
9: 62,179,921 (GRCm39) |
M329K |
probably benign |
Het |
| Ston2 |
T |
C |
12: 91,615,104 (GRCm39) |
K435E |
probably damaging |
Het |
| Synj2 |
A |
T |
17: 6,026,149 (GRCm39) |
L69F |
probably damaging |
Het |
| Tigd5 |
T |
C |
15: 75,781,842 (GRCm39) |
I68T |
probably damaging |
Het |
| Tmcc2 |
A |
T |
1: 132,286,720 (GRCm39) |
M577K |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,849,798 (GRCm39) |
I263N |
possibly damaging |
Het |
| Trip13 |
T |
C |
13: 74,061,439 (GRCm39) |
E408G |
probably benign |
Het |
| Txnl4b |
T |
C |
8: 110,295,735 (GRCm39) |
|
probably null |
Het |
| Ube2o |
T |
C |
11: 116,430,369 (GRCm39) |
E1123G |
probably damaging |
Het |
| Vmn1r123 |
A |
G |
7: 20,896,774 (GRCm39) |
H222R |
possibly damaging |
Het |
| Vmn2r73 |
G |
T |
7: 85,522,140 (GRCm39) |
H66Q |
probably benign |
Het |
| Zc3h13 |
T |
A |
14: 75,567,863 (GRCm39) |
V1052D |
probably benign |
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 |
|
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 |
|
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'- TTCAACAGAGCATGGTCACGG -3'
(R):5'- TCTCAGTTGGATTGTGCCCG -3'
Sequencing Primer
(F):5'- ATGGTCACGGAGCCTCTCTTG -3'
(R):5'- CACCTTCCTACAGTCTTTGAATG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation