Incidental Mutation 'V8831:Cdc7'
| ID |
44612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdc7
|
| Ensembl Gene |
ENSMUSG00000029283 |
| Gene Name |
cell division cycle 7 |
| Synonyms |
Cdc7l1, muCdc7, Cdc7 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
V8831 ()
of strain
710
|
| Quality Score |
209 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
107112188-107132298 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 107116776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 50
(N50K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119612
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031221]
[ENSMUST00000076467]
[ENSMUST00000117196]
[ENSMUST00000118261]
[ENSMUST00000129938]
|
| AlphaFold |
Q9Z0H0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031221
AA Change: N50K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000031221
Gene: ENSMUSG00000029283
AA Change: N50K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
52 |
212 |
1.7e-14 |
PFAM |
|
Pfam:Pkinase
|
52 |
216 |
4.4e-27 |
PFAM |
|
Pfam:Pkinase
|
351 |
559 |
1.5e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076467
AA Change: N50K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000075792
Gene: ENSMUSG00000029283
AA Change: N50K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
52 |
214 |
1.7e-14 |
PFAM |
|
Pfam:Pkinase
|
52 |
227 |
1.1e-25 |
PFAM |
|
Pfam:Pkinase
|
314 |
520 |
2.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117196
AA Change: N50K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112392
Gene: ENSMUSG00000029283
AA Change: N50K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
52 |
214 |
1e-14 |
PFAM |
|
Pfam:Pkinase
|
52 |
227 |
6.6e-26 |
PFAM |
|
Pfam:Pkinase
|
313 |
527 |
4.5e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118261
AA Change: N50K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113385
Gene: ENSMUSG00000029283
AA Change: N50K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
52 |
214 |
1.2e-14 |
PFAM |
|
Pfam:Pkinase
|
52 |
227 |
7.4e-26 |
PFAM |
|
Pfam:Pkinase
|
345 |
559 |
5.1e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129938
AA Change: N50K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000119612
Gene: ENSMUSG00000029283
AA Change: N50K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
52 |
214 |
5.4e-15 |
PFAM |
|
Pfam:Pkinase
|
52 |
227 |
3.4e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140378
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cell division cycle protein with kinase activity that is critical for the G1/S transition. The yeast homolog is also essential for initiation of DNA replication as cell division occurs. Overexpression of this gene product may be associated with neoplastic transformation for some tumors. Multiple alternatively spliced transcript variants that encode the same protein have been detected. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality between E3.5-E6.5. In conjunction with a Trp53-null allele, double homozygous mutant embryos survive up to E8.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa1 |
A |
G |
12: 87,316,697 (GRCm39) |
N107S |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,371 (GRCm39) |
I690V |
probably benign |
Het |
| Bard1 |
G |
A |
1: 71,127,376 (GRCm39) |
P78S |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,583,185 (GRCm39) |
T976I |
unknown |
Het |
| Cep85 |
C |
T |
4: 133,883,380 (GRCm39) |
E170K |
possibly damaging |
Het |
| Cpsf2 |
C |
T |
12: 101,969,400 (GRCm39) |
R757C |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,321,092 (GRCm39) |
D239E |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,458 (GRCm39) |
Y4022* |
probably null |
Het |
| Elmo3 |
A |
G |
8: 106,033,693 (GRCm39) |
N179S |
probably benign |
Het |
| H2bc11 |
G |
C |
13: 22,227,451 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,216 (GRCm39) |
Q89L |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,365 (GRCm39) |
I327T |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,287,380 (GRCm39) |
L157Q |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,059,878 (GRCm39) |
D656N |
probably benign |
Het |
| Lrrc72 |
G |
T |
12: 36,258,656 (GRCm39) |
T67K |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,455,004 (GRCm39) |
I1298S |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
G |
A |
18: 60,835,999 (GRCm39) |
A428V |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,173 (GRCm39) |
Y104H |
possibly damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,438 (GRCm39) |
T25K |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,742 (GRCm39) |
A247V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,119 (GRCm39) |
V170A |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,594,304 (GRCm39) |
|
probably null |
Het |
| Shprh |
G |
A |
10: 11,062,606 (GRCm39) |
D1238N |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,398,262 (GRCm39) |
I676F |
possibly damaging |
Het |
| Smoc1 |
A |
G |
12: 81,215,029 (GRCm39) |
D305G |
probably damaging |
Het |
| Spdef |
C |
T |
17: 27,937,051 (GRCm39) |
R184H |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,371,497 (GRCm39) |
A535T |
probably benign |
Het |
| Tcp11l1 |
C |
G |
2: 104,515,829 (GRCm39) |
V345L |
probably benign |
Het |
| Ticam1 |
TC |
T |
17: 56,576,969 (GRCm39) |
708 |
probably null |
Het |
| Ttc28 |
A |
T |
5: 111,248,578 (GRCm39) |
Y177F |
probably benign |
Het |
| Ugt2b34 |
A |
T |
5: 87,054,533 (GRCm39) |
Y83N |
probably benign |
Het |
| Vmn2r30 |
G |
A |
7: 7,337,148 (GRCm39) |
R163C |
probably benign |
Het |
| Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
probably benign |
Het |
|
| Other mutations in Cdc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00642:Cdc7
|
APN |
5 |
107,116,726 (GRCm39) |
missense |
probably benign |
|
|
IGL01671:Cdc7
|
APN |
5 |
107,131,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03373:Cdc7
|
APN |
5 |
107,120,785 (GRCm39) |
splice site |
probably benign |
|
|
R0179:Cdc7
|
UTSW |
5 |
107,112,905 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0563:Cdc7
|
UTSW |
5 |
107,120,776 (GRCm39) |
splice site |
probably benign |
|
|
R1621:Cdc7
|
UTSW |
5 |
107,112,920 (GRCm39) |
missense |
probably benign |
|
|
R1970:Cdc7
|
UTSW |
5 |
107,120,940 (GRCm39) |
splice site |
probably benign |
|
|
R2044:Cdc7
|
UTSW |
5 |
107,130,998 (GRCm39) |
missense |
probably benign |
|
|
R2993:Cdc7
|
UTSW |
5 |
107,121,764 (GRCm39) |
missense |
probably benign |
|
|
R3110:Cdc7
|
UTSW |
5 |
107,122,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3112:Cdc7
|
UTSW |
5 |
107,122,564 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4700:Cdc7
|
UTSW |
5 |
107,121,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5396:Cdc7
|
UTSW |
5 |
107,117,163 (GRCm39) |
splice site |
probably null |
|
|
R6217:Cdc7
|
UTSW |
5 |
107,120,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Cdc7
|
UTSW |
5 |
107,117,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6285:Cdc7
|
UTSW |
5 |
107,130,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6609:Cdc7
|
UTSW |
5 |
107,120,924 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7828:Cdc7
|
UTSW |
5 |
107,120,816 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8518:Cdc7
|
UTSW |
5 |
107,120,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Cdc7
|
UTSW |
5 |
107,123,405 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACCTGTCTCACCCAGCTTTA -3'
(R):5'- TGTCCTTCTTGCAACTGTGCTGT -3'
Sequencing Primer
(F):5'- gtttgtttgtttgtttgtttgttttg -3'
(R):5'- GTGCCTATGAAGCAATCAAGC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation