Mutagenetix > Incidental Mutation

Incidental Mutation 'R5152:Cdk13'

395464

Institutional Source

Beutler Lab

Gene Symbol

Cdk13

Ensembl Gene

ENSMUSG00000041297

Gene Name

cyclin dependent kinase 13

Synonyms

2310015O17Rik, Cdc2l5

MMRRC Submission

042734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5152 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17885309-17979960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17893110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1358 (A1358S)

Ref Sequence

ENSEMBL: ENSMUSP00000036013 (fasta)

Gene Model

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

AlphaFold

Q69ZA1

Predicted Effect

probably benign
Transcript: ENSMUST00000042365
AA Change: A1358S

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: A1358S

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

unknown
Transcript: ENSMUST00000222800
AA Change: A684S

Predicted Effect

probably benign
Transcript: ENSMUST00000223490
AA Change: A1298S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.4%

Validation Efficiency

99% (83/84)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,139,846 (GRCm39)	S1503P	probably benign	Het
Actn3	C	A	19: 4,913,572 (GRCm39)	V620F	probably damaging	Het
Adamtsl3	A	G	7: 82,223,752 (GRCm39)	K252E	probably benign	Het
Adgrg1	A	G	8: 95,736,373 (GRCm39)	Y509C	probably damaging	Het
Arhgef2	G	A	3: 88,536,875 (GRCm39)		probably null	Het
Bod1l	T	C	5: 41,973,886 (GRCm39)	E2476G	probably benign	Het
Capn3	T	C	2: 120,331,811 (GRCm39)		probably benign	Het
Catsperz	T	C	19: 6,900,705 (GRCm39)	T147A	probably benign	Het
Cc2d1b	C	A	4: 108,483,283 (GRCm39)	A289E	probably benign	Het
Ccdc170	A	C	10: 4,511,107 (GRCm39)	H722P	probably damaging	Het
Cntn6	T	A	6: 104,546,074 (GRCm39)		probably benign	Het
Coch	A	G	12: 51,642,225 (GRCm39)	N66D	probably benign	Het
Col12a1	A	G	9: 79,564,030 (GRCm39)	S1732P	probably damaging	Het
Copa	T	A	1: 171,945,628 (GRCm39)	V917E	probably benign	Het
Csmd2	C	A	4: 128,445,828 (GRCm39)	N3299K	probably benign	Het
Cyp2c67	A	T	19: 39,627,132 (GRCm39)	F233I	probably benign	Het
D630039A03Rik	T	A	4: 57,910,434 (GRCm39)	H126L	probably damaging	Het
Ddx46	T	C	13: 55,806,843 (GRCm39)	L492P	probably damaging	Het
Dpysl3	C	T	18: 43,571,145 (GRCm39)	G43D	probably benign	Het
Enpp5	C	T	17: 44,392,024 (GRCm39)	P151L	probably damaging	Het
Exoc3l4	T	C	12: 111,397,327 (GRCm39)		probably benign	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Flg2	C	A	3: 93,122,284 (GRCm39)	P1485T	unknown	Het
Fmo5	A	G	3: 97,549,078 (GRCm39)	Y242C	probably benign	Het
Fsip2	C	A	2: 82,808,916 (GRCm39)	T1745N	probably benign	Het
Gata4	T	A	14: 63,478,570 (GRCm39)	N10Y	probably damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm4787	A	C	12: 81,425,451 (GRCm39)	S236A	probably benign	Het
Golga7	A	C	8: 23,735,965 (GRCm39)	S94A	probably benign	Het
Gpbp1	A	G	13: 111,589,815 (GRCm39)		probably benign	Het
Grm1	A	G	10: 10,955,619 (GRCm39)	Y222H	probably benign	Het
Gstcd	A	G	3: 132,790,717 (GRCm39)	Y17H	possibly damaging	Het
Hephl1	C	A	9: 14,991,481 (GRCm39)	D586Y	probably damaging	Het
Hpn	C	A	7: 30,799,261 (GRCm39)	V35L	probably damaging	Het
Il23r	T	A	6: 67,400,725 (GRCm39)	N535I	probably damaging	Het
Inpp4a	T	C	1: 37,397,616 (GRCm39)	I45T	possibly damaging	Het
Itgae	G	C	11: 73,021,821 (GRCm39)	G901R	probably damaging	Het
Kif28	T	C	1: 179,530,103 (GRCm39)	D686G	probably damaging	Het
Kit	A	G	5: 75,781,507 (GRCm39)	E312G	probably benign	Het
Lamb2	C	A	9: 108,364,937 (GRCm39)	S1230R	probably benign	Het
Lars1	A	T	18: 42,361,842 (GRCm39)	D588E	possibly damaging	Het
Lgr4	T	A	2: 109,830,948 (GRCm39)	F292I	probably damaging	Het
Lmf1	C	T	17: 25,874,493 (GRCm39)	S458L	probably damaging	Het
Lpin2	T	A	17: 71,552,154 (GRCm39)	C787S	probably damaging	Het
Ms4a4a	A	C	19: 11,365,676 (GRCm39)	I138L	probably benign	Het
Mterf1a	A	T	5: 3,940,984 (GRCm39)	F295I	probably damaging	Het
Muc4	A	T	16: 32,577,432 (GRCm39)	K241*	probably null	Het
Muc5b	T	C	7: 141,419,268 (GRCm39)	F4017S	possibly damaging	Het
Nfkbil1	T	C	17: 35,440,384 (GRCm39)		probably benign	Het
Or10d5j	T	C	9: 39,868,202 (GRCm39)	T22A	probably benign	Het
Or4x6	A	G	2: 89,949,465 (GRCm39)	L159P	probably damaging	Het
Or8g21	A	T	9: 38,906,473 (GRCm39)	V86E	possibly damaging	Het
Osgep	T	C	14: 51,155,315 (GRCm39)	D81G	probably damaging	Het
Otos	A	G	1: 92,572,116 (GRCm39)	F70S	probably damaging	Het
Pcdhb2	T	A	18: 37,429,179 (GRCm39)	V384D	probably damaging	Het
Ppp1r10	C	T	17: 36,240,144 (GRCm39)	P514S	probably damaging	Het
Pramel14	G	A	4: 143,720,830 (GRCm39)	P37L	probably damaging	Het
Prdm16	A	G	4: 154,430,559 (GRCm39)	Y309H	probably damaging	Het
Rap1gds1	A	T	3: 138,661,962 (GRCm39)	D382E	probably damaging	Het
Reln	A	G	5: 22,153,627 (GRCm39)	F2226L	probably damaging	Het
Rmi2	C	T	16: 10,657,765 (GRCm39)	T125M	probably damaging	Het
Setd1a	C	T	7: 127,383,197 (GRCm39)	T231I	probably benign	Het
Sftpa1	G	A	14: 40,856,309 (GRCm39)	G218D	probably damaging	Het
Shcbp1	A	T	8: 4,786,138 (GRCm39)	F655I	probably damaging	Het
Slc5a7	T	C	17: 54,585,861 (GRCm39)	I319V	possibly damaging	Het
Sp140l2	G	A	1: 85,239,581 (GRCm39)	P19S	probably benign	Het
Spata31d1c	C	T	13: 65,183,409 (GRCm39)	T317I	probably damaging	Het
Speg	C	T	1: 75,404,742 (GRCm39)	P2845S	possibly damaging	Het
Synpo2	A	G	3: 123,029,550 (GRCm39)		probably null	Het
Tdpoz9	T	C	3: 93,957,451 (GRCm39)		probably benign	Het
Tdrd7	T	A	4: 46,013,191 (GRCm39)	S644T	probably damaging	Het
Tmem182	T	A	1: 40,877,460 (GRCm39)	Y112N	probably damaging	Het
Usp45	T	A	4: 21,824,815 (GRCm39)	N522K	probably benign	Het
Vnn3	A	T	10: 23,740,237 (GRCm39)	Y180F	probably benign	Het
Wnk1	C	T	6: 119,979,241 (GRCm39)	R282Q	possibly damaging	Het
Xrn1	A	T	9: 95,846,118 (GRCm39)	D57V	probably benign	Het
Zfp831	T	C	2: 174,486,357 (GRCm39)	V344A	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
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'- ATGGTCCTTGTCTCCACTAAAC -3'
(R):5'- TAACTGACCCACATGCTGGAG -3'

Sequencing Primer
(F):5'- TTGTCTCCACTAAACAACATGGG -3'
(R):5'- AGTGAAGGCAGCCCTCTTACAG -3'

Posted On

2016-06-21