Incidental Mutation 'IGL02602:Cdk13'
| ID |
300130 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cdk13
|
| Ensembl Gene |
ENSMUSG00000041297 |
| Gene Name |
cyclin dependent kinase 13 |
| Synonyms |
2310015O17Rik, Cdc2l5 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02602
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
17885309-17979960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17901745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 997
(F997L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042365]
[ENSMUST00000222800]
[ENSMUST00000223490]
|
| AlphaFold |
Q69ZA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042365
AA Change: F997L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: F997L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
86 |
N/A |
INTRINSIC |
|
low complexity region
|
93 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
187 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
490 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
553 |
599 |
6.15e-5 |
PROSPERO |
|
low complexity region
|
607 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
631 |
641 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
661 |
N/A |
INTRINSIC |
|
S_TKc
|
705 |
998 |
7.25e-94 |
SMART |
|
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1190 |
1236 |
6.15e-5 |
PROSPERO |
|
low complexity region
|
1248 |
1273 |
N/A |
INTRINSIC |
|
low complexity region
|
1299 |
1311 |
N/A |
INTRINSIC |
|
low complexity region
|
1355 |
1360 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222359
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000222800
AA Change: F383L
PolyPhen 2
Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223490
AA Change: F997L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
|
| 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 a member of the cyclin-dependent serine/threonine protein kinase family. Members of this family are well known for their essential roles as master switches in cell cycle control. The exact function of this protein has not yet been determined, but it may play a role in mRNA processing and may be involved in regulation of hematopoiesis. Alternatively spliced transcript variants have been described.[provided by RefSeq, Dec 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf2 |
A |
G |
11: 94,461,291 (GRCm39) |
|
probably benign |
Het |
| Arhgap20 |
A |
T |
9: 51,737,143 (GRCm39) |
I148F |
probably damaging |
Het |
| Arhgef10 |
C |
T |
8: 14,980,198 (GRCm39) |
A146V |
probably benign |
Het |
| Cep162 |
G |
A |
9: 87,128,206 (GRCm39) |
H170Y |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,399,515 (GRCm39) |
F220L |
probably damaging |
Het |
| Clock |
C |
A |
5: 76,402,273 (GRCm39) |
G129V |
probably null |
Het |
| Clock |
C |
T |
5: 76,402,274 (GRCm39) |
G129R |
probably damaging |
Het |
| Cybrd1 |
T |
C |
2: 70,948,492 (GRCm39) |
L10P |
probably damaging |
Het |
| Cyp7a1 |
A |
G |
4: 6,272,871 (GRCm39) |
I114T |
possibly damaging |
Het |
| Epha7 |
T |
A |
4: 28,871,877 (GRCm39) |
V402D |
possibly damaging |
Het |
| Fam228a |
G |
A |
12: 4,782,808 (GRCm39) |
T95I |
probably benign |
Het |
| Gm7589 |
C |
T |
9: 59,053,441 (GRCm39) |
|
noncoding transcript |
Het |
| Klf4 |
C |
A |
4: 55,530,595 (GRCm39) |
R172L |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,248,956 (GRCm39) |
S7190P |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,762,365 (GRCm39) |
T1119A |
possibly damaging |
Het |
| Nmur2 |
T |
A |
11: 55,917,889 (GRCm39) |
T367S |
probably benign |
Het |
| Ogfr |
A |
G |
2: 180,237,230 (GRCm39) |
D605G |
possibly damaging |
Het |
| Or4f61 |
A |
G |
2: 111,922,906 (GRCm39) |
F47L |
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,399,849 (GRCm39) |
N600I |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,421,327 (GRCm39) |
S3032P |
probably damaging |
Het |
| Ppp2r5e |
A |
G |
12: 75,540,213 (GRCm39) |
L144P |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,569,397 (GRCm39) |
|
probably benign |
Het |
| Scarb2 |
A |
G |
5: 92,596,415 (GRCm39) |
Y410H |
probably benign |
Het |
| Slc12a1 |
A |
G |
2: 124,996,162 (GRCm39) |
Y105C |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stt3b |
A |
T |
9: 115,105,846 (GRCm39) |
S210T |
probably damaging |
Het |
| Sulf2 |
T |
C |
2: 165,923,220 (GRCm39) |
H635R |
probably benign |
Het |
| Tmem167 |
C |
A |
13: 90,252,499 (GRCm39) |
R52S |
probably damaging |
Het |
| Tsga13 |
G |
A |
6: 30,879,212 (GRCm39) |
T167I |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,865,063 (GRCm39) |
R271G |
possibly damaging |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,635 (GRCm39) |
K40E |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,313,901 (GRCm39) |
N277Y |
probably benign |
Het |
|
| Other mutations in Cdk13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Cdk13
|
APN |
13 |
17,895,683 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL00800:Cdk13
|
APN |
13 |
17,902,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Cdk13
|
APN |
13 |
17,947,112 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02447:Cdk13
|
APN |
13 |
17,947,001 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02494:Cdk13
|
APN |
13 |
17,913,710 (GRCm39) |
nonsense |
probably null |
|
|
IGL02542:Cdk13
|
APN |
13 |
17,902,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Vortex
|
UTSW |
13 |
17,913,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Whirlpool
|
UTSW |
13 |
17,946,988 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0115:Cdk13
|
UTSW |
13 |
17,894,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0421:Cdk13
|
UTSW |
13 |
17,937,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0481:Cdk13
|
UTSW |
13 |
17,894,079 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0681:Cdk13
|
UTSW |
13 |
17,895,882 (GRCm39) |
splice site |
probably benign |
|
|
R1432:Cdk13
|
UTSW |
13 |
17,893,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Cdk13
|
UTSW |
13 |
17,913,748 (GRCm39) |
nonsense |
probably null |
|
|
R2221:Cdk13
|
UTSW |
13 |
17,894,120 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2332:Cdk13
|
UTSW |
13 |
17,893,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2389:Cdk13
|
UTSW |
13 |
17,926,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4546:Cdk13
|
UTSW |
13 |
17,941,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4753:Cdk13
|
UTSW |
13 |
17,937,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Cdk13
|
UTSW |
13 |
17,895,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4856:Cdk13
|
UTSW |
13 |
17,894,319 (GRCm39) |
missense |
probably benign |
|
|
R4861:Cdk13
|
UTSW |
13 |
17,941,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4861:Cdk13
|
UTSW |
13 |
17,941,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Cdk13
|
UTSW |
13 |
17,894,319 (GRCm39) |
missense |
probably benign |
|
|
R4909:Cdk13
|
UTSW |
13 |
17,946,988 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5152:Cdk13
|
UTSW |
13 |
17,893,110 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5308:Cdk13
|
UTSW |
13 |
17,946,898 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5350:Cdk13
|
UTSW |
13 |
17,978,515 (GRCm39) |
unclassified |
probably benign |
|
|
R5412:Cdk13
|
UTSW |
13 |
17,941,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Cdk13
|
UTSW |
13 |
17,978,147 (GRCm39) |
unclassified |
probably benign |
|
|
R5719:Cdk13
|
UTSW |
13 |
17,894,240 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6052:Cdk13
|
UTSW |
13 |
17,895,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6349:Cdk13
|
UTSW |
13 |
17,926,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6415:Cdk13
|
UTSW |
13 |
17,913,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Cdk13
|
UTSW |
13 |
17,947,138 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7666:Cdk13
|
UTSW |
13 |
17,947,161 (GRCm39) |
start gained |
probably benign |
|
|
R7764:Cdk13
|
UTSW |
13 |
17,895,890 (GRCm39) |
splice site |
probably null |
|
|
R8100:Cdk13
|
UTSW |
13 |
17,978,101 (GRCm39) |
missense |
unknown |
|
|
R9089:Cdk13
|
UTSW |
13 |
17,978,444 (GRCm39) |
missense |
unknown |
|
|
R9224:Cdk13
|
UTSW |
13 |
17,941,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9476:Cdk13
|
UTSW |
13 |
17,902,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9510:Cdk13
|
UTSW |
13 |
17,902,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Cdk13
|
UTSW |
13 |
17,926,440 (GRCm39) |
missense |
|
|
|
R9685:Cdk13
|
UTSW |
13 |
17,978,542 (GRCm39) |
missense |
unknown |
|
|
RF009:Cdk13
|
UTSW |
13 |
17,978,329 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation