Incidental Mutation 'R2332:Cdk13'
| ID |
246479 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdk13
|
| Ensembl Gene |
ENSMUSG00000041297 |
| Gene Name |
cyclin dependent kinase 13 |
| Synonyms |
2310015O17Rik, Cdc2l5 |
| MMRRC Submission |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
17885309-17979960 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 17893280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 627
(L627P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042365]
[ENSMUST00000222800]
[ENSMUST00000223490]
|
| AlphaFold |
Q69ZA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042365
AA Change: L1301P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: L1301P
| 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: ENSMUST00000222359
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222800
AA Change: L627P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000223490
AA Change: L1241P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4544 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pacsin1 |
A |
G |
17: 27,923,885 (GRCm39) |
E93G |
possibly damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
probably damaging |
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 |
|
IGL02602:Cdk13
|
APN |
13 |
17,901,745 (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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCAGAGACTGAATATCTGAGTTTCC -3'
(R):5'- TTGGAGCTGACACCAGAACC -3'
Sequencing Primer
(F):5'- GAAACTACGTGCTTCCAATGGTGC -3'
(R):5'- CAGACCGGCCTCGAATTCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation