Mutagenetix > Incidental Mutations

Incidental Mutation 'R8437:Uck1'

654027

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32255002-32260159 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 32260141 bp

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: ENSMUST00000138133

SMART Domains

Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (50/50)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd2	T	C	7: 79,348,430	Y237H	probably damaging	Het
Adprh	T	C	16: 38,446,087	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705	S631G	probably benign	Het
Bpifa5	T	A	2: 154,165,606	L156H	probably damaging	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
C8b	T	C	4: 104,786,843	Y236H	probably damaging	Het
Celf2	C	T	2: 6,547,145	G508S	probably damaging	Het
Clca1	T	C	3: 145,005,061	T794A	probably benign	Het
Col27a1	T	A	4: 63,319,464		probably benign	Het
Cyp2j12	C	T	4: 96,099,662	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 78,052,768	I168T	possibly damaging	Het
Dtna	C	T	18: 23,590,341	Q201*	probably null	Het
Fetub	T	C	16: 22,934,235	S146P	possibly damaging	Het
Gak	T	G	5: 108,609,406	E242D	probably benign	Het
Gfpt2	T	A	11: 49,804,867		probably benign	Het
Ginm1	C	T	10: 7,770,366	C290Y	probably benign	Het
Hepacam	T	C	9: 37,384,710	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,391,076	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,662,675	S220A	unknown	Het
Hydin	A	G	8: 110,462,735	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 76,930,178	A18V	probably damaging	Het
Ift140	T	A	17: 25,094,677	C1361S	probably damaging	Het
Il16	T	C	7: 83,652,143	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,107,303	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,926,234	V316I	probably benign	Het
March6	A	G	15: 31,482,549	I501T	possibly damaging	Het
Msl2	T	A	9: 101,100,968	S180R	probably benign	Het
Muc16	C	T	9: 18,657,924	V1100I	unknown	Het
Nbas	T	C	12: 13,566,250	V2263A	possibly damaging	Het
Olfr1416	C	T	1: 92,480,465	S52N	probably benign	Het
Olfr853	C	T	9: 19,537,537	R131H	probably benign	Het
Pdilt	T	G	7: 119,514,886	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,628,950	T640A	probably damaging	Het
Pole2	G	C	12: 69,204,187	Y467*	probably null	Het
Pxdn	C	T	12: 30,002,044	T740M	probably damaging	Het
Rabac1	T	C	7: 24,972,247	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,117,572	Q245R	probably damaging	Het
Sae1	A	G	7: 16,370,354	V110A	probably damaging	Het
Sema3c	G	T	5: 17,662,938	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,265,704	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,880,107	T35M	probably benign	Het
Speer4b	C	T	5: 27,498,820	R107Q	probably benign	Het
Sycp2	T	C	2: 178,364,858	T843A	probably damaging	Het
Tecta	T	A	9: 42,332,560	I2004F	probably damaging	Het
Tma16	T	C	8: 66,476,796	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,781,362	Y1167*	probably null	Het
Usp25	A	G	16: 77,033,912	T19A	probably damaging	Het
Vpreb2	G	A	16: 17,980,889	G80S	probably damaging	Het
Wdfy4	A	G	14: 33,076,375	C2025R		Het
Zyg11a	T	A	4: 108,217,906	H6L	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
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	probably benign	0.17
R8415:Uck1	UTSW	2	32260141	unclassified	probably benign
R8416:Uck1	UTSW	2	32260141	unclassified	probably benign
R8438:Uck1	UTSW	2	32260141	unclassified	probably benign
R8440:Uck1	UTSW	2	32260141	unclassified	probably benign
R8442:Uck1	UTSW	2	32260141	unclassified	probably benign
R8530:Uck1	UTSW	2	32260141	unclassified	probably benign
R8537:Uck1	UTSW	2	32260141	unclassified	probably benign
R8749:Uck1	UTSW	2	32256512	missense

Predicted Primers

PCR Primer
(F):5'- AGTGAGCTTGTGCACTGAG -3'
(R):5'- ATAAGGCAGGGACGGTCCTAAC -3'

Sequencing Primer
(F):5'- AGCTTGTGCACTGAGTGACC -3'
(R):5'- ACGGTCCTAACCCTGTGG -3'

Posted On

2020-10-20