Incidental Mutation 'R3031:Cdc37'
ID |
264727 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdc37
|
Ensembl Gene |
ENSMUSG00000019471 |
Gene Name |
cell division cycle 37 |
Synonyms |
p50Cdc37 |
MMRRC Submission |
040547-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.947)
|
Stock # |
R3031 (G1)
|
Quality Score |
123 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21050727-21061230 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 21054487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 46
(E46G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019615]
[ENSMUST00000215296]
|
AlphaFold |
Q61081 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019615
AA Change: E46G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000019615 Gene: ENSMUSG00000019471 AA Change: E46G
Domain | Start | End | E-Value | Type |
CDC37_N
|
1 |
128 |
1.07e-69 |
SMART |
CDC37_M
|
121 |
283 |
4.37e-84 |
SMART |
CDC37_C
|
287 |
379 |
1.25e-43 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215296
AA Change: E46G
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215866
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to Cdc 37, a cell division cycle control protein of Sacchromyces cerevisiae. This protein is a molecular chaperone with specific function in cell signal transduction. It has been shown to form complex with Hsp90 and a variety of protein kinases including CDK4, CDK6, SRC, RAF-1, MOK, as well as eIF2 alpha kinases. It is thought to play a critical role in directing Hsp90 to its target kinases. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
Other mutations in Cdc37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01943:Cdc37
|
APN |
9 |
21,054,409 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02448:Cdc37
|
APN |
9 |
21,051,147 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02547:Cdc37
|
APN |
9 |
21,051,262 (GRCm39) |
unclassified |
probably benign |
|
R0137:Cdc37
|
UTSW |
9 |
21,053,426 (GRCm39) |
missense |
possibly damaging |
0.74 |
R0195:Cdc37
|
UTSW |
9 |
21,053,576 (GRCm39) |
missense |
probably benign |
0.01 |
R0523:Cdc37
|
UTSW |
9 |
21,054,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R0611:Cdc37
|
UTSW |
9 |
21,053,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R0629:Cdc37
|
UTSW |
9 |
21,052,064 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0755:Cdc37
|
UTSW |
9 |
21,051,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R1512:Cdc37
|
UTSW |
9 |
21,053,712 (GRCm39) |
splice site |
probably benign |
|
R2127:Cdc37
|
UTSW |
9 |
21,061,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Cdc37
|
UTSW |
9 |
21,053,829 (GRCm39) |
nonsense |
probably null |
|
R2239:Cdc37
|
UTSW |
9 |
21,053,829 (GRCm39) |
nonsense |
probably null |
|
R5068:Cdc37
|
UTSW |
9 |
21,061,099 (GRCm39) |
missense |
probably damaging |
0.98 |
R5169:Cdc37
|
UTSW |
9 |
21,052,413 (GRCm39) |
missense |
probably benign |
0.00 |
R5308:Cdc37
|
UTSW |
9 |
21,052,060 (GRCm39) |
missense |
probably benign |
0.00 |
R5333:Cdc37
|
UTSW |
9 |
21,054,457 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5595:Cdc37
|
UTSW |
9 |
21,054,509 (GRCm39) |
missense |
probably damaging |
1.00 |
R7040:Cdc37
|
UTSW |
9 |
21,053,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R7819:Cdc37
|
UTSW |
9 |
21,052,260 (GRCm39) |
missense |
probably damaging |
0.97 |
R8066:Cdc37
|
UTSW |
9 |
21,054,437 (GRCm39) |
missense |
probably benign |
0.01 |
R8500:Cdc37
|
UTSW |
9 |
21,052,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- CCACATTCCAGGGCATGTTC -3'
(R):5'- CATAGACATGTGGCAGCAGG -3'
Sequencing Primer
(F):5'- TGCGCATGTCTTCCAGC -3'
(R):5'- CTGTGTGCTCTGTAGTCAG -3'
|
Posted On |
2015-02-05 |