Mutagenetix > Incidental Mutation

Incidental Mutation 'R8437:Uck1'

654027

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

067901-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8437 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32145014-32150117 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 32150153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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: 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: 78,998,178 (GRCm39)	Y237H	probably damaging	Het
Adprh	T	C	16: 38,266,449 (GRCm39)	E231G	probably benign	Het
Anks6	T	C	4: 47,030,705 (GRCm39)	S631G	probably benign	Het
Bpifa5	T	A	2: 154,007,526 (GRCm39)	L156H	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
C8b	T	C	4: 104,644,040 (GRCm39)	Y236H	probably damaging	Het
Celf2	C	T	2: 6,551,956 (GRCm39)	G508S	probably damaging	Het
Clca3a1	T	C	3: 144,710,822 (GRCm39)	T794A	probably benign	Het
Col27a1	T	A	4: 63,237,701 (GRCm39)		probably benign	Het
Cyp2j12	C	T	4: 95,987,899 (GRCm39)	C497Y	probably damaging	Het
Dnmt3l	T	C	10: 77,888,602 (GRCm39)	I168T	possibly damaging	Het
Dtna	C	T	18: 23,723,398 (GRCm39)	Q201*	probably null	Het
Fetub	T	C	16: 22,752,985 (GRCm39)	S146P	possibly damaging	Het
Gak	T	G	5: 108,757,272 (GRCm39)	E242D	probably benign	Het
Gfpt2	T	A	11: 49,695,694 (GRCm39)		probably benign	Het
Ginm1	C	T	10: 7,646,130 (GRCm39)	C290Y	probably benign	Het
Hepacam	T	C	9: 37,296,006 (GRCm39)	S386P	probably damaging	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpa3	T	G	2: 75,493,019 (GRCm39)	S220A	unknown	Het
Hydin	A	G	8: 111,189,367 (GRCm39)	E1257G	probably damaging	Het
Ier3ip1	C	T	18: 77,017,874 (GRCm39)	A18V	probably damaging	Het
Ift140	T	A	17: 25,313,651 (GRCm39)	C1361S	probably damaging	Het
Il16	T	C	7: 83,301,351 (GRCm39)	Q955R	probably damaging	Het
Itpr3	T	G	17: 27,326,277 (GRCm39)	M1349R	probably damaging	Het
Kcnk4	C	T	19: 6,903,602 (GRCm39)	V316I	probably benign	Het
Marchf6	A	G	15: 31,482,695 (GRCm39)	I501T	possibly damaging	Het
Msl2	T	A	9: 100,978,167 (GRCm39)	S180R	probably benign	Het
Muc16	C	T	9: 18,569,220 (GRCm39)	V1100I	unknown	Het
Nbas	T	C	12: 13,616,251 (GRCm39)	V2263A	possibly damaging	Het
Or6b2	C	T	1: 92,408,187 (GRCm39)	S52N	probably benign	Het
Or7g33	C	T	9: 19,448,833 (GRCm39)	R131H	probably benign	Het
Pdilt	T	G	7: 119,114,109 (GRCm39)	I130L	possibly damaging	Het
Phldb3	A	G	7: 24,328,375 (GRCm39)	T640A	probably damaging	Het
Pole2	G	C	12: 69,250,961 (GRCm39)	Y467*	probably null	Het
Pxdn	C	T	12: 30,052,043 (GRCm39)	T740M	probably damaging	Het
Rabac1	T	C	7: 24,671,672 (GRCm39)	I83V	probably damaging	Het
Rrp7a	T	C	15: 83,001,773 (GRCm39)	Q245R	probably damaging	Het
Sae1	A	G	7: 16,104,279 (GRCm39)	V110A	probably damaging	Het
Sema3c	G	T	5: 17,867,936 (GRCm39)	V116F	probably damaging	Het
Serpina3i	A	G	12: 104,231,963 (GRCm39)	Y200C	probably damaging	Het
Slc25a45	C	T	19: 5,930,135 (GRCm39)	T35M	probably benign	Het
Speer4b	C	T	5: 27,703,818 (GRCm39)	R107Q	probably benign	Het
Sycp2	T	C	2: 178,006,651 (GRCm39)	T843A	probably damaging	Het
Tecta	T	A	9: 42,243,856 (GRCm39)	I2004F	probably damaging	Het
Tma16	T	C	8: 66,929,448 (GRCm39)	D182G	possibly damaging	Het
Topaz1	T	A	9: 122,610,427 (GRCm39)	Y1167*	probably null	Het
Usp25	A	G	16: 76,830,800 (GRCm39)	T19A	probably damaging	Het
Vpreb1b	G	A	16: 17,798,753 (GRCm39)	G80S	probably damaging	Het
Wdfy4	A	G	14: 32,798,332 (GRCm39)	C2025R		Het
Zyg11a	T	A	4: 108,075,103 (GRCm39)	H6L	probably damaging	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
R2938:Uck1	UTSW	2	32,146,088 (GRCm39)	unclassified	probably benign
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
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'- AGTGAGCTTGTGCACTGAG -3'
(R):5'- ATAAGGCAGGGACGGTCCTAAC -3'

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

Posted On

2020-10-20