Mutagenetix > Incidental Mutation

Incidental Mutation 'R2938:Uck1'

256079

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

040515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2938 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

32145014-32150117 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

GCCAACACC to GCC at 32146088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000002625

SMART Domains

Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550

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

noncoding transcript
Transcript: ENSMUST00000138000

Predicted Effect

probably benign
Transcript: ENSMUST00000138133

SMART Domains

Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142797

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151598

Predicted Effect

probably benign
Transcript: ENSMUST00000192998

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	T	A	2: 166,736,653 (GRCm39)	I1775K	probably damaging	Het
Arhgap45	T	A	10: 79,864,836 (GRCm39)	M933K	probably damaging	Het
Astn2	A	T	4: 65,910,550 (GRCm39)	H427Q	possibly damaging	Het
Bace2	T	C	16: 97,213,388 (GRCm39)		probably null	Het
Cacna1b	A	G	2: 24,496,540 (GRCm39)	V125A	probably benign	Het
Cbarp	T	C	10: 79,967,603 (GRCm39)	D539G	probably damaging	Het
Ccdc59	A	T	10: 105,677,388 (GRCm39)	K9M	possibly damaging	Het
Ccdc73	T	A	2: 104,805,980 (GRCm39)	L296*	probably null	Het
Cd40	G	C	2: 164,911,622 (GRCm39)	V191L	probably benign	Het
Cdc6	A	G	11: 98,801,586 (GRCm39)	I217V	probably benign	Het
Cdh15	G	A	8: 123,588,763 (GRCm39)	R279Q	probably damaging	Het
Cdr1	T	G	X: 60,228,968 (GRCm39)	D66A	unknown	Het
Cela3b	A	G	4: 137,150,574 (GRCm39)	I208T	probably benign	Het
Col1a2	A	T	6: 4,520,788 (GRCm39)	Q375L	possibly damaging	Het
Csn1s1	A	T	5: 87,824,995 (GRCm39)	Q221L	possibly damaging	Het
Cstl1	T	A	2: 148,592,977 (GRCm39)	I44N	possibly damaging	Het
Depdc5	G	A	5: 33,058,965 (GRCm39)		probably null	Het
Dthd1	A	G	5: 63,000,300 (GRCm39)	I541V	probably benign	Het
Eml6	G	A	11: 29,783,049 (GRCm39)		probably benign	Het
Fkbp15	T	A	4: 62,222,900 (GRCm39)	T1000S	probably benign	Het
Gimap8	A	T	6: 48,635,730 (GRCm39)	R498S	possibly damaging	Het
Glis1	A	G	4: 107,489,488 (GRCm39)	N692D	possibly damaging	Het
Gpr83	A	G	9: 14,776,167 (GRCm39)	T163A	probably benign	Het
Hmgcr	G	A	13: 96,799,576 (GRCm39)	L173F	probably damaging	Het
Htr2b	T	A	1: 86,030,177 (GRCm39)	I173F	possibly damaging	Het
Ifna11	T	C	4: 88,738,530 (GRCm39)	L112P	probably damaging	Het
Lmod1	A	G	1: 135,291,654 (GRCm39)	K170E	probably benign	Het
Lrrtm1	A	T	6: 77,220,635 (GRCm39)	M31L	probably benign	Het
Macf1	T	C	4: 123,326,695 (GRCm39)	N2815S	probably damaging	Het
Man1c1	A	G	4: 134,430,263 (GRCm39)	I173T	possibly damaging	Het
Man2b2	A	G	5: 36,978,330 (GRCm39)	I318T	probably benign	Het
Mib1	T	A	18: 10,752,033 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,795,803 (GRCm39)	S1315T	probably damaging	Het
Nsun5	C	T	5: 135,404,317 (GRCm39)	Q375*	probably null	Het
Opcml	A	G	9: 27,702,682 (GRCm39)	M1V	probably null	Het
Or4d5	A	T	9: 40,012,039 (GRCm39)	I249K	probably benign	Het
Or5m3	T	C	2: 85,838,357 (GRCm39)	M79T	probably damaging	Het
Or6c66b	T	A	10: 129,376,484 (GRCm39)	F26Y	probably damaging	Het
Parm1	T	C	5: 91,742,328 (GRCm39)	I232T	possibly damaging	Het
Pdss1	T	A	2: 22,796,799 (GRCm39)		probably null	Het
Pfkfb2	G	A	1: 130,633,147 (GRCm39)	T202I	possibly damaging	Het
Postn	T	A	3: 54,277,731 (GRCm39)	F242Y	probably damaging	Het
Prss12	A	G	3: 123,280,625 (GRCm39)	T437A	probably benign	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Rbm10	T	C	X: 20,513,934 (GRCm39)	L429P	possibly damaging	Het
Saraf	A	G	8: 34,635,735 (GRCm39)	N346D	probably benign	Het
Sec31b	T	C	19: 44,524,618 (GRCm39)	D93G	probably damaging	Het
Sgcg	A	T	14: 61,467,074 (GRCm39)	F175L	probably damaging	Het
Sh3rf2	A	G	18: 42,282,789 (GRCm39)	D449G	probably benign	Het
Slc9a3	T	C	13: 74,269,788 (GRCm39)	I52T	possibly damaging	Het
Tcf7	A	T	11: 52,173,610 (GRCm39)		probably null	Het
Tlr1	A	G	5: 65,083,251 (GRCm39)	V442A	probably damaging	Het
Tmub1	A	G	5: 24,650,922 (GRCm39)	*261Q	probably null	Het
Utp4	A	G	8: 107,649,561 (GRCm39)	D670G	probably damaging	Het
Vamp5	A	G	6: 72,346,323 (GRCm39)	V91A	probably benign	Het
Vmn1r35	A	T	6: 66,655,950 (GRCm39)	M73K	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,397 (GRCm39)	E389K	probably damaging	Het
Wdsub1	T	C	2: 59,703,630 (GRCm39)	T112A	possibly damaging	Het
Xpo4	G	T	14: 57,841,897 (GRCm39)	Q473K	probably benign	Het
Xpo7	A	G	14: 70,909,130 (GRCm39)	I797T	probably damaging	Het
Zfp808	G	A	13: 62,319,032 (GRCm39)	V67M	probably benign	Het

Other mutations in Uck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Uck1	APN	2	32,149,681 (GRCm39)	missense	probably damaging	1.00
IGL01765:Uck1	APN	2	32,148,688 (GRCm39)	unclassified	probably benign
IGL02028:Uck1	APN	2	32,148,149 (GRCm39)	missense	probably damaging	1.00
IGL02863:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
IGL03114:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
IGL03159:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
IGL03325:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
PIT4378001:Uck1	UTSW	2	32,146,046 (GRCm39)	missense	probably damaging	1.00
R1019:Uck1	UTSW	2	32,146,205 (GRCm39)	missense	possibly damaging	0.88
R1332:Uck1	UTSW	2	32,149,666 (GRCm39)	missense	probably damaging	1.00
R1336:Uck1	UTSW	2	32,149,666 (GRCm39)	missense	probably damaging	1.00
R1428:Uck1	UTSW	2	32,148,367 (GRCm39)	missense	probably damaging	1.00
R2173:Uck1	UTSW	2	32,146,088 (GRCm39)	unclassified	probably benign
R2233:Uck1	UTSW	2	32,148,315 (GRCm39)	missense	probably damaging	1.00
R2234:Uck1	UTSW	2	32,148,315 (GRCm39)	missense	probably damaging	1.00
R3079:Uck1	UTSW	2	32,148,089 (GRCm39)	unclassified	probably benign
R4667:Uck1	UTSW	2	32,146,046 (GRCm39)	missense	probably damaging	1.00
R5036:Uck1	UTSW	2	32,148,478 (GRCm39)	unclassified	probably benign
R6463:Uck1	UTSW	2	32,148,667 (GRCm39)	missense	probably benign	0.00
R7072:Uck1	UTSW	2	32,148,178 (GRCm39)	missense	probably damaging	1.00
R7690:Uck1	UTSW	2	32,148,184 (GRCm39)	missense	probably benign	0.03
R8021:Uck1	UTSW	2	32,149,929 (GRCm39)	missense	probably benign	0.17
R8415:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8416:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8437:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8438:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8440:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8442:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8530:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8537:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8749:Uck1	UTSW	2	32,146,524 (GRCm39)	missense
R9494:Uck1	UTSW	2	32,148,179 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGGAAGGCTTTGGTCCTG -3'
(R):5'- ACCATGAGTGTTTTGCAGGG -3'

Sequencing Primer
(F):5'- AGGCTTTGGTCCTGATGCCAC -3'
(R):5'- TTTTGCAGGGTAGGGGAGAGAG -3'

Posted On

2014-12-29