Mutagenetix > Incidental Mutation

Incidental Mutation 'R7665:Cdk13'

591882

Institutional Source

Beutler Lab

Gene Symbol

Cdk13

Ensembl Gene

ENSMUSG00000041297

Gene Name

cyclin dependent kinase 13

Synonyms

2310015O17Rik, Cdc2l5

MMRRC Submission

045739-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7665 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17885309-17979960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 17947138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 540 (T540I)

Ref Sequence

ENSEMBL: ENSMUSP00000036013 (fasta)

Gene Model

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

AlphaFold

Q69ZA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042365
AA Change: T540I

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: T540I

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

probably benign
Transcript: ENSMUST00000221775

Predicted Effect

probably benign
Transcript: ENSMUST00000222800

Predicted Effect

probably benign
Transcript: ENSMUST00000223490
AA Change: T540I

PolyPhen 2 Score 0.396 (Sensitivity: 0.89; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (72/72)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	A	G	5: 115,012,384 (GRCm39)		probably null	Het
A830018L16Rik	T	C	1: 12,042,323 (GRCm39)	S448P	probably damaging	Het
Abca4	C	T	3: 121,838,139 (GRCm39)		probably benign	Het
Ackr2	A	G	9: 121,738,374 (GRCm39)	M250V	probably benign	Het
Actn4	A	G	7: 28,615,632 (GRCm39)	I147T	probably damaging	Het
Adgrv1	C	T	13: 81,647,261 (GRCm39)	S3093N	probably damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Brwd1	G	A	16: 95,842,543 (GRCm39)	T798M	probably benign	Het
Cdkn1c	A	G	7: 143,014,371 (GRCm39)	V25A	possibly damaging	Het
Col2a1	T	C	15: 97,874,581 (GRCm39)	E1420G	unknown	Het
Dbf4	G	A	5: 8,447,867 (GRCm39)	P448S	probably damaging	Het
Dnajb7	T	C	15: 81,291,620 (GRCm39)	N239S	probably benign	Het
Dnttip1	A	G	2: 164,596,061 (GRCm39)	D102G	probably damaging	Het
Dpp8	T	A	9: 64,986,000 (GRCm39)	V830D	probably damaging	Het
Eddm13	G	A	7: 6,272,891 (GRCm39)		probably null	Het
Eef1g	T	C	19: 8,945,653 (GRCm39)	V29A	probably benign	Het
Enpp2	T	A	15: 54,702,790 (GRCm39)	Y906F	probably damaging	Het
Epb41l4a	A	G	18: 34,139,069 (GRCm39)	L23P	possibly damaging	Het
Exoc1	T	A	5: 76,691,420 (GRCm39)	M248K	probably benign	Het
Fam83b	T	C	9: 76,398,157 (GRCm39)	Y982C	probably damaging	Het
Fat4	C	T	3: 38,943,327 (GRCm39)	A740V	probably benign	Het
Fsip2	T	A	2: 82,812,149 (GRCm39)	S2823T	probably benign	Het
Gckr	T	C	5: 31,454,899 (GRCm39)			Het
Gpr150	A	T	13: 76,204,093 (GRCm39)	V284E	probably damaging	Het
Grtp1	T	G	8: 13,227,103 (GRCm39)	I344L	probably benign	Het
Heatr5a	T	A	12: 52,008,313 (GRCm39)	N10I	probably damaging	Het
Herc2	C	A	7: 55,802,903 (GRCm39)	L2109I	probably damaging	Het
Hs1bp3	T	A	12: 8,367,935 (GRCm39)	D61E	probably damaging	Het
Ifit1bl1	T	A	19: 34,572,283 (GRCm39)	Y58F	probably benign	Het
Itfg1	A	G	8: 86,490,979 (GRCm39)	F317L	probably benign	Het
Itsn1	T	C	16: 91,638,491 (GRCm39)	I764T	unknown	Het
Med8	A	C	4: 118,268,853 (GRCm39)		probably null	Het
Mpeg1	C	A	19: 12,440,458 (GRCm39)	P639T	probably damaging	Het
Mtcl3	T	A	10: 29,072,393 (GRCm39)	Y562N	probably damaging	Het
Nedd9	A	G	13: 41,469,785 (GRCm39)	L456P	probably benign	Het
Neo1	A	G	9: 58,833,078 (GRCm39)	S556P	probably damaging	Het
Nphp3	T	A	9: 103,882,592 (GRCm39)		probably null	Het
Nup205	T	C	6: 35,154,555 (GRCm39)	V53A	possibly damaging	Het
Nvl	A	T	1: 180,962,509 (GRCm39)	S154T	probably benign	Het
Or10h1	G	T	17: 33,418,603 (GRCm39)	G194*	probably null	Het
Or1e31	A	T	11: 73,689,787 (GRCm39)	N265K	probably benign	Het
Or2ag2	A	T	7: 106,485,880 (GRCm39)	V48D	possibly damaging	Het
Or2h2c	A	G	17: 37,422,283 (GRCm39)	M197T	probably benign	Het
Or51ah3	A	T	7: 103,210,523 (GRCm39)	I280F	probably benign	Het
Or9k7	T	A	10: 130,047,130 (GRCm39)		probably null	Het
Parvg	T	C	15: 84,222,002 (GRCm39)	I243T	probably damaging	Het
Paxip1	T	A	5: 27,970,736 (GRCm39)	M538L	unknown	Het
Pgghg	G	T	7: 140,525,382 (GRCm39)	D428Y	probably damaging	Het
Pik3cd	C	T	4: 149,738,507 (GRCm39)	V777M	possibly damaging	Het
Plcl2	A	C	17: 50,914,185 (GRCm39)	K398T	probably benign	Het
Plxna1	A	T	6: 89,301,520 (GRCm39)		probably null	Het
Rbbp6	T	A	7: 122,589,255 (GRCm39)		probably null	Het
Rbbp6	T	C	7: 122,593,909 (GRCm39)	Y514H	possibly damaging	Het
Scin	T	A	12: 40,119,414 (GRCm39)	N538I	probably damaging	Het
Sdcbp	A	G	4: 6,385,144 (GRCm39)	D121G	probably benign	Het
Sgk1	T	C	10: 21,872,561 (GRCm39)	I311T	probably damaging	Het
Shq1	A	C	6: 100,550,717 (GRCm39)	L407W	probably damaging	Het
Sipa1	A	T	19: 5,701,699 (GRCm39)	S979T	probably benign	Het
Slc25a37	G	T	14: 69,487,028 (GRCm39)	T85K	probably benign	Het
Spag9	A	T	11: 93,904,480 (GRCm39)	Q112L	probably damaging	Het
Spg11	A	T	2: 121,896,748 (GRCm39)	V1686E	probably damaging	Het
Stap2	A	G	17: 56,304,909 (GRCm39)	V291A	probably benign	Het
Tnk2	C	T	16: 32,499,344 (GRCm39)	R886C	probably damaging	Het
Tnrc6c	T	A	11: 117,611,777 (GRCm39)	D138E	possibly damaging	Het
Unc13c	A	G	9: 73,587,756 (GRCm39)	S1426P	probably benign	Het
Vav1	G	A	17: 57,604,086 (GRCm39)	V163M	probably damaging	Het
Vmn2r67	T	A	7: 84,801,196 (GRCm39)	K247*	probably null	Het
Zc2hc1c	T	C	12: 85,343,336 (GRCm39)	V491A	possibly damaging	Het
Zfp51	A	G	17: 21,683,843 (GRCm39)	T153A	probably benign	Het
Zyx	A	G	6: 42,333,096 (GRCm39)	E374G	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
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
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'- GAGGTCACTAAAGCCACATGC -3'
(R):5'- GCTTGGCAGCTGAATTGAAC -3'

Sequencing Primer
(F):5'- GCCACATGCTGCTCCTTC -3'
(R):5'- AATAAAAAGGCACGAGCTGC -3'

Posted On

2019-11-12