Mutagenetix > Incidental Mutation

Incidental Mutation 'R1452:Cdk14'

161064

Institutional Source

Beutler Lab

Gene Symbol

Cdk14

Ensembl Gene

ENSMUSG00000028926

Gene Name

cyclin dependent kinase 14

Synonyms

Pftk1

MMRRC Submission

039507-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4853384-5430251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4938927 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 404 (S404G)

Ref Sequence

ENSEMBL: ENSMUSP00000111111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030763] [ENSMUST00000115450] [ENSMUST00000115451] [ENSMUST00000115452]

AlphaFold

O35495

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030763
AA Change: S450G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: S450G

Domain	Start	End	E-Value	Type
low complexity region	119	127	N/A	INTRINSIC
S_TKc	135	419	3.63e-85	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115450
AA Change: S404G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: S404G

Domain	Start	End	E-Value	Type
low complexity region	73	81	N/A	INTRINSIC
S_TKc	89	373	3.63e-85	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115451
AA Change: S404G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: S404G

Domain	Start	End	E-Value	Type
low complexity region	73	81	N/A	INTRINSIC
S_TKc	89	373	3.63e-85	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115452
AA Change: S432G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: S432G

Domain	Start	End	E-Value	Type
low complexity region	101	109	N/A	INTRINSIC
S_TKc	117	401	3.63e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199623

Meta Mutation Damage Score

0.0917

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.8%
20x: 87.5%

Validation Efficiency

99% (70/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,655,015 (GRCm39)	I1446M	probably benign	Het
Acaca	T	A	11: 84,185,885 (GRCm39)		probably benign	Het
Adgre4	A	T	17: 56,091,996 (GRCm39)	E85D	probably benign	Het
Akt3	A	T	1: 176,958,633 (GRCm39)	Y26N	possibly damaging	Het
Arl15	T	C	13: 114,104,319 (GRCm39)	V132A	probably benign	Het
Atp6v1h	A	G	1: 5,168,360 (GRCm39)		probably benign	Het
Atrip	T	A	9: 108,901,727 (GRCm39)	D110V	probably damaging	Het
Bahcc1	T	G	11: 120,173,065 (GRCm39)		probably benign	Het
Cd53	C	T	3: 106,676,275 (GRCm39)	G31S	probably damaging	Het
Cers3	A	T	7: 66,433,152 (GRCm39)	K156N	probably damaging	Het
Colgalt2	C	A	1: 152,379,904 (GRCm39)	L448M	probably damaging	Het
Cox15	G	T	19: 43,735,344 (GRCm39)	T141K	probably damaging	Het
Csnk2a2	C	T	8: 96,184,003 (GRCm39)		probably benign	Het
Cyp2b10	A	T	7: 25,624,813 (GRCm39)		probably benign	Het
Cyp2c55	A	G	19: 38,999,534 (GRCm39)	Y80C	probably damaging	Het
Depdc1a	A	G	3: 159,232,328 (GRCm39)	Y693C	possibly damaging	Het
Des	T	C	1: 75,340,121 (GRCm39)	S343P	probably damaging	Het
Dync1i2	T	C	2: 71,080,207 (GRCm39)		probably benign	Het
Eif3m	T	A	2: 104,837,122 (GRCm39)	Q199L	probably damaging	Het
Emsy	G	T	7: 98,249,881 (GRCm39)	T802K	probably damaging	Het
Endov	A	G	11: 119,382,651 (GRCm39)	T33A	probably damaging	Het
Epb41l5	G	A	1: 119,476,896 (GRCm39)	T728I	probably damaging	Het
Fbxo39	A	G	11: 72,209,228 (GRCm39)	I363V	probably benign	Het
Gm8674	C	T	13: 50,054,553 (GRCm39)		noncoding transcript	Het
Il6st	T	A	13: 112,617,998 (GRCm39)	N137K	possibly damaging	Het
Inf2	A	G	12: 112,567,778 (GRCm39)	N136S	probably damaging	Het
Iqub	A	T	6: 24,491,558 (GRCm39)	I376N	probably benign	Het
Kansl3	A	G	1: 36,393,874 (GRCm39)		probably benign	Het
Kbtbd2	A	T	6: 56,758,909 (GRCm39)	H71Q	probably damaging	Het
Lgals8	G	T	13: 12,468,208 (GRCm39)	Y140*	probably null	Het
Mab21l4	T	C	1: 93,080,661 (GRCm39)	Y415C	probably damaging	Het
Macf1	T	A	4: 123,387,791 (GRCm39)	I924L	probably benign	Het
Mcoln2	A	T	3: 145,887,569 (GRCm39)	T329S	possibly damaging	Het
Mex3d	A	T	10: 80,217,354 (GRCm39)	L621Q	probably damaging	Het
Mmut	A	G	17: 41,248,359 (GRCm39)		probably benign	Het
Ncor1	T	C	11: 62,225,457 (GRCm39)	H1038R	probably damaging	Het
Neb	A	G	2: 52,161,309 (GRCm39)		probably null	Het
Ngrn	A	G	7: 79,914,520 (GRCm39)	T224A	probably benign	Het
Nin	G	A	12: 70,064,424 (GRCm39)	R2019*	probably null	Het
Nphp4	C	G	4: 152,631,475 (GRCm39)	Q792E	probably damaging	Het
Or13e8	C	T	4: 43,696,823 (GRCm39)	V117M	probably benign	Het
Or2z9	C	T	8: 72,854,020 (GRCm39)	Q139*	probably null	Het
Or4c3d	C	T	2: 89,882,015 (GRCm39)	V218I	possibly damaging	Het
Or5d38	C	T	2: 87,954,655 (GRCm39)	V225I	probably benign	Het
Or8k3	T	A	2: 86,058,799 (GRCm39)	N172I	probably damaging	Het
Pde4dip	C	A	3: 97,631,418 (GRCm39)	V1164L	probably damaging	Het
Plppr1	A	G	4: 49,301,067 (GRCm39)		probably benign	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Ppp2r5e	A	G	12: 75,516,310 (GRCm39)		probably benign	Het
Prim2	T	A	1: 33,669,485 (GRCm39)	E163D	probably benign	Het
Prrc2b	A	T	2: 32,084,997 (GRCm39)	D296V	probably damaging	Het
Pter	A	G	2: 12,983,432 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,228,130 (GRCm39)	K392I	probably damaging	Het
Robo2	C	A	16: 73,758,798 (GRCm39)	V662L	probably damaging	Het
Sirpd	G	T	3: 15,397,212 (GRCm39)	T24K	unknown	Het
Slco1b2	A	T	6: 141,617,926 (GRCm39)	I424F	probably benign	Het
Snx29	A	T	16: 11,449,335 (GRCm39)	H260L	probably damaging	Het
Stil	A	G	4: 114,896,392 (GRCm39)	N959S	probably benign	Het
Taar8c	A	T	10: 23,977,508 (GRCm39)	D101E	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpc6	G	A	9: 8,653,148 (GRCm39)	M573I	probably damaging	Het
Tsr1	A	T	11: 74,790,425 (GRCm39)	D171V	probably benign	Het
Ube4b	T	C	4: 149,455,626 (GRCm39)	T348A	probably damaging	Het
Vmn1r85	A	T	7: 12,818,808 (GRCm39)	I112N	probably damaging	Het
Vps36	A	G	8: 22,708,226 (GRCm39)		probably null	Het
Wdfy3	G	A	5: 102,085,604 (GRCm39)	A630V	possibly damaging	Het
Wdsub1	A	T	2: 59,707,144 (GRCm39)	D14E	probably null	Het
Ylpm1	T	C	12: 85,077,157 (GRCm39)	I1294T	possibly damaging	Het
Zdhhc17	A	G	10: 110,790,936 (GRCm39)	F378L	probably benign	Het

Other mutations in Cdk14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00678:Cdk14	APN	5	5,299,237 (GRCm39)	splice site	probably benign
IGL01376:Cdk14	APN	5	5,060,839 (GRCm39)	missense	probably damaging	1.00
IGL02102:Cdk14	APN	5	5,430,083 (GRCm39)	missense	probably benign	0.01
IGL02179:Cdk14	APN	5	5,153,845 (GRCm39)	missense	probably damaging	1.00
IGL02423:Cdk14	APN	5	4,938,905 (GRCm39)	missense	probably benign	0.00
IGL03081:Cdk14	APN	5	4,999,527 (GRCm39)	splice site	probably benign
IGL02988:Cdk14	UTSW	5	5,086,484 (GRCm39)	missense	probably damaging	1.00
R0465:Cdk14	UTSW	5	5,143,019 (GRCm39)	missense	probably damaging	1.00
R0630:Cdk14	UTSW	5	5,185,422 (GRCm39)	splice site	probably benign
R1601:Cdk14	UTSW	5	5,185,378 (GRCm39)	missense	probably damaging	1.00
R1629:Cdk14	UTSW	5	5,153,807 (GRCm39)	missense	probably benign	0.18
R1659:Cdk14	UTSW	5	4,999,571 (GRCm39)	missense	probably benign	0.08
R1809:Cdk14	UTSW	5	5,060,901 (GRCm39)	missense	probably damaging	0.98
R2013:Cdk14	UTSW	5	5,143,047 (GRCm39)	missense	probably damaging	1.00
R2015:Cdk14	UTSW	5	5,430,082 (GRCm39)	missense	probably benign
R2256:Cdk14	UTSW	5	4,938,924 (GRCm39)	missense	probably benign
R2257:Cdk14	UTSW	5	4,938,924 (GRCm39)	missense	probably benign
R2908:Cdk14	UTSW	5	5,299,051 (GRCm39)	missense	probably benign	0.33
R4324:Cdk14	UTSW	5	5,086,532 (GRCm39)	nonsense	probably null
R4432:Cdk14	UTSW	5	5,086,427 (GRCm39)	missense	probably damaging	1.00
R4907:Cdk14	UTSW	5	5,299,140 (GRCm39)	missense	probably damaging	0.96
R5426:Cdk14	UTSW	5	4,938,975 (GRCm39)	missense	possibly damaging	0.93
R5708:Cdk14	UTSW	5	5,316,036 (GRCm39)	intron	probably benign
R6006:Cdk14	UTSW	5	5,299,211 (GRCm39)	start codon destroyed	probably null	0.33
R6120:Cdk14	UTSW	5	4,944,029 (GRCm39)	missense	probably damaging	0.96
R7048:Cdk14	UTSW	5	5,143,005 (GRCm39)	missense	probably damaging	1.00
R7104:Cdk14	UTSW	5	5,245,325 (GRCm39)	missense	possibly damaging	0.92
R7712:Cdk14	UTSW	5	5,430,061 (GRCm39)	missense	possibly damaging	0.86
R8046:Cdk14	UTSW	5	5,299,159 (GRCm39)	missense	possibly damaging	0.86
R8121:Cdk14	UTSW	5	5,277,195 (GRCm39)	missense	possibly damaging	0.92
R8195:Cdk14	UTSW	5	5,277,159 (GRCm39)	splice site	probably null
R8279:Cdk14	UTSW	5	5,316,125 (GRCm39)	intron	probably benign
R8312:Cdk14	UTSW	5	4,944,141 (GRCm39)	missense	probably benign	0.03
R8543:Cdk14	UTSW	5	5,430,079 (GRCm39)	missense	probably benign	0.02
R8728:Cdk14	UTSW	5	5,470,117 (GRCm39)	synonymous	silent
R8862:Cdk14	UTSW	5	5,060,862 (GRCm39)	missense	probably benign	0.01
R8914:Cdk14	UTSW	5	5,086,515 (GRCm39)	missense	possibly damaging	0.93
R8956:Cdk14	UTSW	5	5,277,182 (GRCm39)	missense	probably damaging	1.00
R9111:Cdk14	UTSW	5	5,315,985 (GRCm39)	missense	possibly damaging	0.93
R9649:Cdk14	UTSW	5	5,423,477 (GRCm39)	missense	probably benign	0.07
R9796:Cdk14	UTSW	5	5,316,012 (GRCm39)	missense	probably benign	0.10
Z1176:Cdk14	UTSW	5	5,185,322 (GRCm39)	nonsense	probably null
Z1177:Cdk14	UTSW	5	4,938,894 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ATCAGTGATTGTTCTCTGCCTCAGC -3'
(R):5'- GACCACTTGGCATTTCAAAACCGAC -3'

Sequencing Primer
(F):5'- CTGCCTCAGCAAAATGTTTGAC -3'
(R):5'- GACCCTTACCACAGCGTTTC -3'

Posted On

2014-03-14