Mutagenetix > Incidental Mutations

Incidental Mutation 'R7072:Uck1'

548932

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32255002-32260159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32258166 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 182 (R182Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002625] [ENSMUST00000036473]

Predicted Effect

probably damaging
Transcript: ENSMUST00000002625
AA Change: R182Q

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

SMART Domains

Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: R182Q

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:CoaE	30	198	1.1e-8	PFAM
Pfam:AAA_17	31	188	3.8e-8	PFAM
Pfam:PRK	31	225	1.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036473

SMART Domains

Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254

Domain	Start	End	E-Value	Type
Pfam:PMT	42	289	2.8e-96	PFAM
MIR	318	381	7.45e-8	SMART
MIR	392	449	1.65e-9	SMART
MIR	456	513	6.2e-5	SMART
Pfam:PMT_4TMC	542	740	3.9e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138133
AA Change: R108Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550
AA Change: R108Q

Domain	Start	End	E-Value	Type
Pfam:PRK	1	151	1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192998

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,173,943	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,726,369	F90L	probably benign	Het
Ahnak2	T	A	12: 112,788,166	Q23L		Het
Anpep	A	T	7: 79,835,379	L620I	possibly damaging	Het
Bpi	T	C	2: 158,272,078	S299P	probably damaging	Het
Bpifa2	A	G	2: 154,011,373	D132G	probably damaging	Het
Brd7	T	A	8: 88,346,987	E258D	probably benign	Het
Btc	T	C	5: 91,402,937		probably benign	Het
Cacna1c	A	G	6: 118,596,106	V2039A		Het
Calm4	T	A	13: 3,838,275	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,760,359	V80A	unknown	Het
Ccdc33	A	G	9: 58,111,984	*279R	probably null	Het
Cercam	T	A	2: 29,881,924	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,440,857	D138G	probably benign	Het
Cox4i2	T	C	2: 152,760,653	F89S	probably damaging	Het
Crb1	G	A	1: 139,237,275	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,438,767		probably null	Het
Ctsj	C	A	13: 61,003,083	E187*	probably null	Het
D730001G18Rik	C	T	15: 74,772,270	V66M		Het
Dagla	A	T	19: 10,256,295		probably null	Het
Dnah7a	G	A	1: 53,419,753	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,615,615	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,129,728	L236Q	probably damaging	Het
Edc4	T	A	8: 105,888,002	D105E	probably damaging	Het
Frmd5	A	T	2: 121,557,870	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,270,927	T662A	probably benign	Het
Gins1	C	T	2: 150,909,751		probably null	Het
Gli3	T	A	13: 15,725,695	N1222K	possibly damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm4302	G	T	10: 100,341,659	Q268H	unknown	Het
Grin2d	A	T	7: 45,857,498	W518R	probably damaging	Het
Grm5	A	T	7: 88,074,304	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,546,365	N193K	probably benign	Het
Igdcc4	T	G	9: 65,130,731	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,341,412	F13I	probably benign	Het
Kctd11	T	A	11: 69,879,795	N139I	probably benign	Het
Lmo7	G	A	14: 101,898,700		probably null	Het
Lrrk2	A	T	15: 91,801,920	M2155L	probably benign	Het
Mettl24	A	C	10: 40,683,513	H53P	probably benign	Het
Mier2	A	G	10: 79,540,299	M264T	unknown	Het
Mplkip	T	C	13: 17,695,537	I18T	unknown	Het
Mtmr2	T	C	9: 13,788,620	V101A	probably benign	Het
Nbeal2	G	T	9: 110,626,051	T2593K	probably benign	Het
Neu3	A	T	7: 99,814,197	C106*	probably null	Het
Nutm1	T	C	2: 112,251,847	T295A	probably benign	Het
Olfr753-ps1	A	G	17: 37,170,378	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,717,276	V779L	probably benign	Het
Pde10a	A	G	17: 8,943,026	E231G	probably benign	Het
Plcg2	T	A	8: 117,589,835		probably null	Het
Pofut2	T	C	10: 77,259,429	L36P	probably benign	Het
Pou6f2	T	C	13: 18,125,169	N635S		Het
Pramef17	A	C	4: 143,994,128	I81R	probably damaging	Het
Ptpra	T	C	2: 130,553,430	Y818H	probably damaging	Het
Rad18	T	C	6: 112,681,440	E168G	probably benign	Het
Rev1	C	A	1: 38,067,545	E634*	probably null	Het
Sec24d	A	G	3: 123,330,351	D403G	probably damaging	Het
Sema5a	C	A	15: 32,574,959	H404Q	possibly damaging	Het
Shank1	A	G	7: 44,344,946	S844G	unknown	Het
Slc32a1	T	A	2: 158,611,496	Y85*	probably null	Het
Slc39a4	T	C	15: 76,613,258	T485A	probably damaging	Het
Sp5	A	C	2: 70,476,730	Q253P	probably benign	Het
Sspo	A	T	6: 48,454,979	D709V	probably damaging	Het
Sucnr1	A	G	3: 60,086,183	Y44C	probably damaging	Het
Taar8b	A	G	10: 24,091,978	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,264,865	D922G	probably damaging	Het
Tbx6	A	T	7: 126,784,740	D322V	probably benign	Het
Tex15	T	A	8: 33,575,431	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,541,501	P880S	probably benign	Het
Utrn	T	A	10: 12,465,213	H2840L	probably damaging	Het
Vps8	A	G	16: 21,581,579	T1266A	probably benign	Het
Wnk1	A	T	6: 119,937,861	I1909N	unknown	Het
Zfp352	C	T	4: 90,224,424	T267I	probably benign	Het
Zfp773	A	T	7: 7,132,875	C241S	probably benign	Het
Zfp934	T	C	13: 62,520,525	D8G	probably damaging	Het

Other mutations in Uck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Uck1	APN	2	32259669	missense	probably damaging	1.00
IGL01765:Uck1	APN	2	32258676	unclassified	probably benign
IGL02028:Uck1	APN	2	32258137	missense	probably damaging	1.00
IGL02863:Uck1	APN	2	32258322	missense	probably benign	0.04
IGL03114:Uck1	APN	2	32258322	missense	probably benign	0.04
IGL03159:Uck1	APN	2	32258322	missense	probably benign	0.04
IGL03325:Uck1	APN	2	32258322	missense	probably benign	0.04
PIT4378001:Uck1	UTSW	2	32256034	missense	probably damaging	1.00
R1019:Uck1	UTSW	2	32256193	missense	possibly damaging	0.88
R1332:Uck1	UTSW	2	32259654	missense	probably damaging	1.00
R1336:Uck1	UTSW	2	32259654	missense	probably damaging	1.00
R1428:Uck1	UTSW	2	32258355	missense	probably damaging	1.00
R2173:Uck1	UTSW	2	32256076	unclassified	probably benign
R2233:Uck1	UTSW	2	32258303	missense	probably damaging	1.00
R2234:Uck1	UTSW	2	32258303	missense	probably damaging	1.00
R2938:Uck1	UTSW	2	32256076	unclassified	probably benign
R3079:Uck1	UTSW	2	32258077	unclassified	probably benign
R4667:Uck1	UTSW	2	32256034	missense	probably damaging	1.00
R5036:Uck1	UTSW	2	32258466	unclassified	probably benign
R6463:Uck1	UTSW	2	32258655	missense	probably benign	0.00
R7690:Uck1	UTSW	2	32258172	missense	probably benign	0.03
R8021:Uck1	UTSW	2	32259917	missense	probably benign	0.17
R8415:Uck1	UTSW	2	32260141	unclassified	probably benign
R8416:Uck1	UTSW	2	32260141	unclassified	probably benign
R8437:Uck1	UTSW	2	32260141	unclassified	probably benign
R8438:Uck1	UTSW	2	32260141	unclassified	probably benign
R8442:Uck1	UTSW	2	32260141	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTAGCCTGAGACACACTGG -3'
(R):5'- CTACCCAGCTGATGTGGTTCTG -3'

Sequencing Primer
(F):5'- GCCTGAGACACACTGGCAAAC -3'
(R):5'- TGGTATTCTACACCCAGGAGATC -3'

Posted On

2019-05-15