Mutagenetix > Incidental Mutation

Incidental Mutation 'R5719:Cdk13'

451372

Institutional Source

Beutler Lab

Gene Symbol

Cdk13

Ensembl Gene

ENSMUSG00000041297

Gene Name

cyclin dependent kinase 13

Synonyms

2310015O17Rik, Cdc2l5

MMRRC Submission

043339-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5719 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17885309-17979960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17894240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1129 (I1129T)

Ref Sequence

ENSEMBL: ENSMUSP00000036013 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042365] [ENSMUST00000222800] [ENSMUST00000223490]

AlphaFold

Q69ZA1

Predicted Effect

probably damaging
Transcript: ENSMUST00000042365
AA Change: I1129T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: I1129T

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 benign
Transcript: ENSMUST00000222800

Predicted Effect

probably benign
Transcript: ENSMUST00000223490

Meta Mutation Damage Score

0.1007

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (79/81)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130051J06Rik	C	T	15: 95,688,641 (GRCm39)		probably benign	Het
A630001G21Rik	T	A	1: 85,651,106 (GRCm39)	R110W	probably benign	Het
Abca4	T	C	3: 121,928,915 (GRCm39)		probably null	Het
Abcc3	T	C	11: 94,241,894 (GRCm39)	N1379S	probably damaging	Het
Actrt3	A	C	3: 30,652,276 (GRCm39)	F273V	probably benign	Het
Adam22	T	C	5: 8,417,217 (GRCm39)	D75G	probably benign	Het
Ash1l	C	A	3: 88,961,805 (GRCm39)	D2392E	possibly damaging	Het
Ash1l	T	C	3: 88,965,933 (GRCm39)	I2445T	probably damaging	Het
Bltp2	T	A	11: 78,164,071 (GRCm39)	H1137Q	probably damaging	Het
Cacna2d2	A	G	9: 107,401,851 (GRCm39)	I762V	probably benign	Het
Ccdc127	T	A	13: 74,505,187 (GRCm39)		probably benign	Het
Ccdc91	C	G	6: 147,477,001 (GRCm39)	L230V	unknown	Het
Cnot1	C	T	8: 96,470,924 (GRCm39)	R1308H	possibly damaging	Het
Crhr2	T	C	6: 55,080,207 (GRCm39)	H144R	probably damaging	Het
Dnmt1	T	C	9: 20,823,891 (GRCm39)	N993S	possibly damaging	Het
Eif4g1	T	A	16: 20,507,761 (GRCm39)	V1182D	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fam234a	T	A	17: 26,433,627 (GRCm39)	Q399L	possibly damaging	Het
Fyb1	A	T	15: 6,610,350 (GRCm39)	K308*	probably null	Het
Gfral	C	T	9: 76,104,328 (GRCm39)	R228Q	probably benign	Het
Gm10309	A	T	17: 86,806,421 (GRCm39)		probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm5501	G	A	18: 9,917,417 (GRCm39)		noncoding transcript	Het
Gm6309	A	T	5: 146,104,992 (GRCm39)	V307D	probably benign	Het
Gm9871	T	A	6: 101,773,148 (GRCm39)		noncoding transcript	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Herc3	T	A	6: 58,871,528 (GRCm39)	V70E	possibly damaging	Het
Hes7	A	G	11: 69,012,415 (GRCm39)	E41G	probably damaging	Het
Ifi27l2b	T	C	12: 103,422,046 (GRCm39)	D106G	unknown	Het
Igfbp6	A	T	15: 102,056,616 (GRCm39)	Y184F	probably damaging	Het
Isyna1	A	G	8: 71,047,352 (GRCm39)	Y25C	probably damaging	Het
Kcng3	G	T	17: 83,938,563 (GRCm39)	T162K	possibly damaging	Het
Krt36	T	C	11: 99,994,987 (GRCm39)	D195G	possibly damaging	Het
Lrwd1	A	T	5: 136,161,093 (GRCm39)		probably null	Het
Lsg1	C	T	16: 30,380,593 (GRCm39)	A615T	probably benign	Het
Myo5a	A	T	9: 75,059,213 (GRCm39)	E480D	probably damaging	Het
Myrf	T	A	19: 10,194,087 (GRCm39)	D690V	probably damaging	Het
N4bp1	T	C	8: 87,578,312 (GRCm39)	I684M	probably damaging	Het
Nlrc3	C	T	16: 3,781,589 (GRCm39)	A607T	probably damaging	Het
Nuak1	A	T	10: 84,245,584 (GRCm39)	I87N	probably damaging	Het
Odad2	G	T	18: 7,211,496 (GRCm39)	Q793K	probably benign	Het
Or5p66	T	G	7: 107,885,599 (GRCm39)	T245P	probably damaging	Het
Or5w11	T	C	2: 87,459,475 (GRCm39)		probably null	Het
Or8b4	A	T	9: 37,830,647 (GRCm39)	E236D	probably damaging	Het
Osbpl9	T	A	4: 108,919,763 (GRCm39)	R689*	probably null	Het
Ppargc1b	T	A	18: 61,440,639 (GRCm39)	M744L	probably benign	Het
Prss40	A	T	1: 34,591,598 (GRCm39)		probably benign	Het
Ptprd	T	A	4: 75,972,839 (GRCm39)		probably null	Het
Rft1	T	C	14: 30,385,183 (GRCm39)		probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rnaset2a	T	C	17: 8,350,879 (GRCm39)	Y167C	probably damaging	Het
Schip1	T	C	3: 68,315,560 (GRCm39)		probably benign	Het
Scn5a	A	C	9: 119,359,118 (GRCm39)	L643R	possibly damaging	Het
Shroom3	T	A	5: 93,090,877 (GRCm39)	M1128K	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc14a2	A	G	18: 78,252,257 (GRCm39)	L18P	probably benign	Het
Slc22a3	C	T	17: 12,642,691 (GRCm39)	V509M	probably damaging	Het
Slc7a5	A	C	8: 122,610,381 (GRCm39)	F478V	probably benign	Het
Smc1b	T	A	15: 84,980,859 (GRCm39)	N803I	probably benign	Het
Snf8	T	A	11: 95,932,551 (GRCm39)	N115K	probably damaging	Het
Stox2	T	A	8: 47,866,172 (GRCm39)	K57*	probably null	Het
Tmem248	T	A	5: 130,258,429 (GRCm39)	F41I	probably damaging	Het
Tmprss7	T	C	16: 45,506,793 (GRCm39)	S90G	probably damaging	Het
Top3b	T	C	16: 16,703,700 (GRCm39)	V285A	probably damaging	Het
Tsen15	T	C	1: 152,247,534 (GRCm39)	T153A	probably damaging	Het
Usp34	T	G	11: 23,304,846 (GRCm39)	S360A	probably benign	Het
Wdr24	T	C	17: 26,047,314 (GRCm39)		probably null	Het
Zbtb2	G	A	10: 4,319,456 (GRCm39)	T190I	probably benign	Het
Zranb3	T	C	1: 127,891,613 (GRCm39)	S788G	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
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
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
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'- GTCAAGAGGACTGCAAATGCAC -3'
(R):5'- ACAGTGAGTAGACTGAAGTGCTC -3'

Sequencing Primer
(F):5'- AAGACTCCTGTTGTGGTG -3'
(R):5'- GTGAGTAGACTGAAGTGCTCATTCAC -3'

Posted On

2017-01-03