Mutagenetix > Incidental Mutations

Incidental Mutation 'R1428:Uck1'

161381

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

039484-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1428 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

32255002-32260159 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 32258355 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 150 (Y150D)

Ref Sequence

ENSEMBL: ENSMUSP00000002625 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002625
AA Change: Y150D

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

SMART Domains

Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: Y150D

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

noncoding transcript
Transcript: ENSMUST00000129163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134351

Predicted Effect

unknown
Transcript: ENSMUST00000138133
AA Change: Y76D

SMART Domains

Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550
AA Change: Y76D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142797

Predicted Effect

probably benign
Transcript: ENSMUST00000192998

Meta Mutation Damage Score

0.5687

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394		probably benign	Het
Ccdc127	C	T	13: 74,356,915	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284		probably null	Het
Crybg1	T	C	10: 43,975,078	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159		probably benign	Het
Epg5	T	C	18: 77,962,427	S711P	probably damaging	Het
Espl1	A	T	15: 102,305,685	Q649L	probably benign	Het
Eya1	G	A	1: 14,304,414		probably benign	Het
Fam214a	A	T	9: 75,006,321	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761	K347I	probably benign	Het
Helz	T	A	11: 107,592,840		probably benign	Het
Hivep3	C	T	4: 120,096,575	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834		probably benign	Het
Kif13a	A	G	13: 46,791,511		probably benign	Het
Kpna3	C	T	14: 61,383,220		probably benign	Het
Mmp15	C	G	8: 95,369,562	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425		probably null	Het
Pknox1	T	C	17: 31,592,092		probably benign	Het
Plb1	A	G	5: 32,264,912	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707		probably benign	Het
Sstr4	A	G	2: 148,396,359	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123	E93K	probably benign	Het
Yipf4	A	G	17: 74,498,305		probably benign	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
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
R7072:Uck1	UTSW	2	32258166	missense	probably damaging	1.00
R7690:Uck1	UTSW	2	32258172	missense	probably benign	0.03
R8021:Uck1	UTSW	2	32259917	missense	not run

Predicted Primers

PCR Primer
(F):5'- TGGCAAACAGTGCAGACAGCTC -3'
(R):5'- CCACTCAAGGTAAGCAGGTGGTTC -3'

Sequencing Primer
(F):5'- TACTGAGTCAGGATCTGCTCCAG -3'
(R):5'- TGGGAGGGCTGTCACAC -3'

Posted On

2014-03-14