Mutagenetix > Incidental Mutation

Incidental Mutation 'R0115:Cdk13'

20740

Institutional Source

Beutler Lab

Gene Symbol

Cdk13

Ensembl Gene

ENSMUSG00000041297

Gene Name

cyclin dependent kinase 13

Synonyms

2310015O17Rik, Cdc2l5

MMRRC Submission

038401-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0115 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

17885309-17979960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 17894079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1123 (A1123S)

Ref Sequence

ENSEMBL: ENSMUSP00000152820 (fasta)

Gene Model

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

AlphaFold

Q69ZA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042365
AA Change: A1183S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036013
Gene: ENSMUSG00000041297
AA Change: A1183S

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

possibly damaging
Transcript: ENSMUST00000222800
AA Change: A509S

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223490
AA Change: A1123S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Meta Mutation Damage Score

0.0824

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 86.0%

Validation Efficiency

98% (98/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	G	9: 114,108,452 (GRCm39)		noncoding transcript	Het
Alas1	A	T	9: 106,115,451 (GRCm39)		probably null	Het
Arf5	A	G	6: 28,426,075 (GRCm39)	Y154C	probably damaging	Het
Arhgap20	T	A	9: 51,750,272 (GRCm39)	I344N	probably damaging	Het
Arhgap30	A	C	1: 171,235,516 (GRCm39)	E630A	possibly damaging	Het
B4galt5	A	G	2: 167,151,154 (GRCm39)	L118P	probably damaging	Het
Bdp1	A	G	13: 100,177,962 (GRCm39)	I1969T	probably benign	Het
Bysl	C	T	17: 47,921,867 (GRCm39)	R77Q	probably benign	Het
Cap1	A	T	4: 122,756,868 (GRCm39)	H272Q	possibly damaging	Het
Ccdc146	T	C	5: 21,527,754 (GRCm39)	I187M	possibly damaging	Het
Ccdc192	G	A	18: 57,727,214 (GRCm39)		probably benign	Het
Cdhr18	A	G	14: 13,899,571 (GRCm38)	V117A	probably damaging	Het
Ces5a	A	T	8: 94,228,811 (GRCm39)	M473K	probably damaging	Het
Chd8	A	G	14: 52,474,663 (GRCm39)	S123P	probably benign	Het
Cwc22	G	A	2: 77,738,455 (GRCm39)	A497V	probably damaging	Het
Cwh43	T	C	5: 73,575,370 (GRCm39)	S296P	probably damaging	Het
Cyp2c50	T	A	19: 40,080,837 (GRCm39)		probably benign	Het
Dlg1	C	A	16: 31,624,508 (GRCm39)	Y399*	probably null	Het
Drosha	A	T	15: 12,846,216 (GRCm39)	E92D	probably benign	Het
Fanca	C	T	8: 123,995,278 (GRCm39)	G1408D	probably benign	Het
Frem1	T	A	4: 82,854,406 (GRCm39)	D1621V	possibly damaging	Het
Frem2	G	A	3: 53,563,629 (GRCm39)	R293C	probably damaging	Het
Fut8	T	A	12: 77,495,334 (GRCm39)	V308D	probably damaging	Het
Glipr1	A	G	10: 111,829,446 (GRCm39)	I105T	probably benign	Het
Glmn	A	T	5: 107,708,800 (GRCm39)	S385T	probably benign	Het
Gon4l	T	A	3: 88,802,989 (GRCm39)	V1200D	probably damaging	Het
Gpc1	G	A	1: 92,785,221 (GRCm39)	D387N	probably damaging	Het
Gsdmc	A	G	15: 63,675,486 (GRCm39)	Y110H	probably damaging	Het
Gucy1b1	T	A	3: 81,941,698 (GRCm39)	H586L	probably benign	Het
Gucy2e	A	G	11: 69,127,458 (GRCm39)	L5P	unknown	Het
Hectd4	A	G	5: 121,433,569 (GRCm39)		probably benign	Het
Hmcn1	T	A	1: 150,684,398 (GRCm39)	I391F	possibly damaging	Het
Hsf4	A	T	8: 105,999,336 (GRCm39)		probably null	Het
I830077J02Rik	G	A	3: 105,833,886 (GRCm39)	T90M	probably damaging	Het
Ino80	A	T	2: 119,261,497 (GRCm39)	H722Q	probably damaging	Het
Kcnma1	C	A	14: 23,364,243 (GRCm39)	R980L	probably damaging	Het
Kif1a	A	G	1: 92,974,500 (GRCm39)		probably benign	Het
Klhdc7b	A	G	15: 89,272,724 (GRCm39)	H1202R	probably benign	Het
Lig3	A	G	11: 82,684,761 (GRCm39)	D559G	probably damaging	Het
Lyst	T	C	13: 13,852,537 (GRCm39)	V2179A	probably benign	Het
Mab21l4	A	T	1: 93,087,447 (GRCm39)	S135R	possibly damaging	Het
Mansc4	A	G	6: 146,976,725 (GRCm39)	I297T	possibly damaging	Het
Marchf6	A	T	15: 31,475,958 (GRCm39)	F633I	probably benign	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Megf10	G	T	18: 57,392,874 (GRCm39)	V424L	possibly damaging	Het
Mfsd13a	C	T	19: 46,354,943 (GRCm39)	T40I	probably benign	Het
Mib2	A	G	4: 155,740,519 (GRCm39)		probably benign	Het
Mmut	C	T	17: 41,267,118 (GRCm39)	T564M	probably damaging	Het
Myh8	A	G	11: 67,197,090 (GRCm39)		probably benign	Het
Mypn	T	C	10: 63,028,159 (GRCm39)		probably benign	Het
Nf1	G	A	11: 79,359,702 (GRCm39)		probably null	Het
Notch3	T	A	17: 32,352,436 (GRCm39)	T1866S	possibly damaging	Het
Or1e30	A	G	11: 73,678,141 (GRCm39)	I126V	possibly damaging	Het
Or1o11	C	T	17: 37,756,670 (GRCm39)	A86V	probably benign	Het
Or4c102	A	T	2: 88,422,999 (GRCm39)	I284F	probably damaging	Het
Or4k51	T	A	2: 111,584,930 (GRCm39)	M112K	probably damaging	Het
Pkhd1	A	T	1: 20,420,714 (GRCm39)	I2464N	probably damaging	Het
Pkn1	A	G	8: 84,397,658 (GRCm39)	S817P	probably damaging	Het
Prkg2	A	T	5: 99,142,514 (GRCm39)		probably null	Het
Prl8a6	T	C	13: 27,617,084 (GRCm39)	D201G	probably benign	Het
Psmd1	C	T	1: 86,010,993 (GRCm39)	T356I	possibly damaging	Het
Ptk6	G	A	2: 180,844,320 (GRCm39)		probably benign	Het
Ptprn2	T	C	12: 117,175,466 (GRCm39)		probably benign	Het
Rbm42	G	A	7: 30,347,200 (GRCm39)	T106I	probably damaging	Het
Rims4	A	T	2: 163,706,040 (GRCm39)	V198E	probably damaging	Het
Ripk1	T	C	13: 34,193,733 (GRCm39)	S32P	probably damaging	Het
Rorc	T	C	3: 94,284,916 (GRCm39)		probably benign	Het
Rpl22l1	T	C	3: 28,860,685 (GRCm39)	F15L	probably damaging	Het
Slc6a20a	C	A	9: 123,507,823 (GRCm39)	A17S	possibly damaging	Het
Sorcs1	A	G	19: 50,624,891 (GRCm39)		probably benign	Het
Sp100	A	G	1: 85,577,852 (GRCm39)		probably benign	Het
Ssc5d	G	A	7: 4,930,880 (GRCm39)		probably benign	Het
Taf11	A	G	17: 28,126,635 (GRCm39)	L4P	probably benign	Het
Tm2d3	A	G	7: 65,345,082 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,179,201 (GRCm39)		probably null	Het
Trim34a	T	A	7: 103,897,109 (GRCm39)	C58S	probably damaging	Het
Trpc3	T	C	3: 36,678,566 (GRCm39)	I840V	probably benign	Het
Trpm6	T	C	19: 18,807,316 (GRCm39)	V1020A	probably damaging	Het
Vmn1r214	T	A	13: 23,219,464 (GRCm39)	Y319*	probably null	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r74	T	C	7: 85,606,564 (GRCm39)	M261V	probably benign	Het
Vmn2r89	T	C	14: 51,693,577 (GRCm39)	F309S	probably damaging	Het
Wdr95	A	T	5: 149,487,855 (GRCm39)	D163V	probably damaging	Het
Xirp2	T	A	2: 67,340,253 (GRCm39)	F831L	possibly damaging	Het
Ythdc2	C	T	18: 44,974,490 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- AACTCCACACAGTCGTACTGAATGC -3'
(R):5'- CAGCCGTTAAACCACAGTGAATTGG -3'

Sequencing Primer
(F):5'- CACAGTCGTACTGAATGCTTGAAG -3'
(R):5'- CCACAGTGAATTGGCAATTCTTC -3'

Posted On

2013-04-11