Mutagenetix > Incidental Mutation

Incidental Mutation 'R7048:Cdk14'

547424

Institutional Source

Beutler Lab

Gene Symbol

Cdk14

Ensembl Gene

ENSMUSG00000028926

Gene Name

cyclin dependent kinase 14

Synonyms

Pftk1

MMRRC Submission

045146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4853384-5430251 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 5143005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 242 (Q242L)

Ref Sequence

ENSEMBL: ENSMUSP00000111112 (fasta)

Gene Model

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

AlphaFold

O35495

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030763
AA Change: Q260L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000030763
Gene: ENSMUSG00000028926
AA Change: Q260L

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: Q214L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111110
Gene: ENSMUSG00000028926
AA Change: Q214L

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: Q214L

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111111
Gene: ENSMUSG00000028926
AA Change: Q214L

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 damaging
Transcript: ENSMUST00000115452
AA Change: Q242L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000111112
Gene: ENSMUSG00000028926
AA Change: Q242L

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

Meta Mutation Damage Score

0.4855

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,552,565 (GRCm39)	D629G	probably damaging	Het
Akap11	T	A	14: 78,749,954 (GRCm39)	Q811L		Het
Ank2	T	A	3: 126,819,267 (GRCm39)	Q468L	probably benign	Het
Ano3	A	T	2: 110,513,116 (GRCm39)	Y626*	probably null	Het
Ap1m1	A	G	8: 73,003,642 (GRCm39)	N114S	probably damaging	Het
Asb3	T	A	11: 31,051,121 (GRCm39)	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,552,672 (GRCm39)	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,233,308 (GRCm39)	Y68H	probably benign	Het
Bbs5	T	C	2: 69,484,705 (GRCm39)	I125T	probably benign	Het
Cd180	A	G	13: 102,841,431 (GRCm39)	N159S	probably damaging	Het
Cd37	T	C	7: 44,887,888 (GRCm39)		probably benign	Het
Clcn1	T	C	6: 42,284,477 (GRCm39)	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,469 (GRCm39)	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,151,971 (GRCm39)	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491 (GRCm39)	S124R	probably benign	Het
Dlec1	A	T	9: 118,972,472 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,936,944 (GRCm39)	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,080,613 (GRCm39)		probably null	Het
Dusp23	A	T	1: 172,459,253 (GRCm39)	Y136*	probably null	Het
Eif4b	A	G	15: 102,001,571 (GRCm39)		probably benign	Het
F13a1	A	G	13: 37,082,117 (GRCm39)	V529A	probably benign	Het
Fhl2	A	G	1: 43,162,808 (GRCm39)	Y236H	probably damaging	Het
Gm826	C	T	2: 160,169,026 (GRCm39)	W94*	probably null	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,475,404 (GRCm39)		probably null	Het
Ifit1bl2	T	C	19: 34,596,551 (GRCm39)	D355G	probably benign	Het
Itga8	A	G	2: 12,115,895 (GRCm39)	V77A	probably damaging	Het
Kcmf1	C	T	6: 72,826,450 (GRCm39)	R40K	probably damaging	Het
Kdm7a	T	C	6: 39,145,982 (GRCm39)	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,268,731 (GRCm39)	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,221,152 (GRCm39)	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969 (GRCm39)	N5301D	probably benign	Het
Mest	T	G	6: 30,742,723 (GRCm39)	H108Q	probably damaging	Het
Mettl25b	A	G	3: 87,837,167 (GRCm39)	I36T	probably damaging	Het
Moxd1	C	A	10: 24,157,374 (GRCm39)	D335E	probably damaging	Het
Ncf2	A	C	1: 152,683,921 (GRCm39)	N47H	probably benign	Het
Npc1	A	G	18: 12,337,822 (GRCm39)		probably null	Het
Or14j2	A	T	17: 37,886,114 (GRCm39)	S67T	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Phactr2	T	A	10: 13,121,168 (GRCm39)	T444S	probably benign	Het
Plekha7	T	C	7: 115,747,559 (GRCm39)	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Pramel15	T	C	4: 144,103,754 (GRCm39)	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,622 (GRCm39)	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,865,277 (GRCm39)	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,028,190 (GRCm39)	D538G	probably benign	Het
Rims1	A	G	1: 22,511,901 (GRCm39)	S551P	probably damaging	Het
Rsrc1	A	G	3: 67,088,164 (GRCm39)	D166G	probably damaging	Het
Selenon	T	C	4: 134,270,154 (GRCm39)	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,295,802 (GRCm39)	L168H	probably damaging	Het
Smc3	T	C	19: 53,617,682 (GRCm39)	Y560H	probably benign	Het
Syce1	C	T	7: 140,359,281 (GRCm39)	D147N	possibly damaging	Het
Syt10	A	C	15: 89,675,008 (GRCm39)	V446G	probably damaging	Het
Taar1	T	C	10: 23,796,722 (GRCm39)	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032 (GRCm39)	C36F	probably damaging	Het
Thoc5	G	A	11: 4,876,237 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,612,800 (GRCm39)	N319K	probably benign	Het
Trhr2	C	T	8: 123,085,418 (GRCm39)	D189N	probably damaging	Het
Trim42	A	T	9: 97,245,474 (GRCm39)	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033 (GRCm39)	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,016,024 (GRCm39)	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,030,153 (GRCm39)	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,578,800 (GRCm39)	T258I	possibly damaging	Het
Washc2	T	C	6: 116,197,544 (GRCm39)	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,508,671 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,757,525 (GRCm39)	Y1193*	probably null	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
R1452:Cdk14	UTSW	5	4,938,927 (GRCm39)	missense	possibly damaging	0.85
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
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'- TCAGGAAGACTAATAAGCAGCC -3'
(R):5'- GCCCTTTCTCACTAATATATTTGGCAG -3'

Sequencing Primer
(F):5'- TACTCCATCACTTTTCAAAAGGC -3'
(R):5'- TATTTCAGCTGCTGCGAG -3'

Posted On

2019-05-13