Mutagenetix > Incidental Mutation

Incidental Mutation 'R8537:Uck1'

659270

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

067891-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8537 (G1)

Quality Score

225.009

Status

Not 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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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
Adgrv1	T	A	13: 81,684,491 (GRCm39)	D1790V	probably damaging	Het
Aopep	A	T	13: 63,338,364 (GRCm39)	E579V	probably damaging	Het
Avl9	T	A	6: 56,705,644 (GRCm39)	Y175*	probably null	Het
Bmp2	A	T	2: 133,403,202 (GRCm39)	D251V	probably damaging	Het
Camsap2	T	A	1: 136,204,943 (GRCm39)	K1191N	probably damaging	Het
Ccdc102a	A	C	8: 95,632,684 (GRCm39)	F431C	probably benign	Het
Ccdc186	T	C	19: 56,798,677 (GRCm39)	I270M	probably damaging	Het
Copb2	A	G	9: 98,469,672 (GRCm39)	Q851R	probably null	Het
Cyp11b2	C	T	15: 74,728,016 (GRCm39)	R22K	probably benign	Het
Ddx50	A	G	10: 62,478,628 (GRCm39)	F186S	probably damaging	Het
Dhx38	T	C	8: 110,280,012 (GRCm39)	Y926C	probably damaging	Het
Dmrt2	T	C	19: 25,651,300 (GRCm39)	M162T	possibly damaging	Het
Dnah10	G	T	5: 124,893,164 (GRCm39)	G3309V	probably damaging	Het
Dnajb2	T	C	1: 75,216,242 (GRCm39)	F107S	probably damaging	Het
Dock8	T	A	19: 25,107,870 (GRCm39)	S867T	probably benign	Het
Eif2ak1	C	A	5: 143,835,887 (GRCm39)	T526K	probably damaging	Het
Gnas	T	C	2: 174,140,394 (GRCm39)	S188P	possibly damaging	Het
Gpam	T	C	19: 55,084,671 (GRCm39)	D36G	probably benign	Het
Gucy2e	C	A	11: 69,127,179 (GRCm39)	R98L	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hnrnpu	T	C	1: 178,161,199 (GRCm39)		probably benign	Het
Icos	A	G	1: 61,033,101 (GRCm39)	D100G	probably damaging	Het
Ifi203	A	T	1: 173,756,472 (GRCm39)		probably benign	Het
Ift46	T	A	9: 44,695,280 (GRCm39)	L92Q	probably damaging	Het
Kcnip2	C	T	19: 45,804,169 (GRCm39)		probably null	Het
Lgr5	T	C	10: 115,288,307 (GRCm39)	Y779C	probably damaging	Het
Ltk	G	T	2: 119,588,588 (GRCm39)	P287Q	probably benign	Het
Mapk8ip3	A	T	17: 25,120,652 (GRCm39)	C852*	probably null	Het
Mmp27	A	G	9: 7,579,776 (GRCm39)	M443V	probably benign	Het
Muc6	T	C	7: 141,234,184 (GRCm39)	D769G	probably benign	Het
Myo7b	T	C	18: 32,110,142 (GRCm39)	I1107V	probably benign	Het
Nebl	T	A	2: 17,355,520 (GRCm39)	H211L	probably benign	Het
Oaz3	T	A	3: 94,343,742 (GRCm39)	K40N	probably damaging	Het
Or5as1	T	A	2: 86,980,382 (GRCm39)	T208S	probably benign	Het
Or7e169	T	A	9: 19,757,848 (GRCm39)	E22D	probably damaging	Het
Osbpl10	G	T	9: 115,058,977 (GRCm39)	A718S	probably benign	Het
Ppp3ca	T	A	3: 136,503,619 (GRCm39)	I64K	possibly damaging	Het
Prlr	T	C	15: 10,314,266 (GRCm39)		probably benign	Het
Rab3ip	A	G	10: 116,746,059 (GRCm39)	I424T	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Sec62	G	T	3: 30,872,961 (GRCm39)	R348L	unknown	Het
Sema5b	C	T	16: 35,471,979 (GRCm39)	A479V	possibly damaging	Het
Shank3	T	C	15: 89,416,418 (GRCm39)	I222T	probably damaging	Het
Sp1	C	T	15: 102,316,964 (GRCm39)	T154I	possibly damaging	Het
Spata31e1	A	G	13: 49,940,108 (GRCm39)	V534A	possibly damaging	Het
Srek1	A	G	13: 103,888,957 (GRCm39)		probably benign	Het
Tmem129	A	G	5: 33,812,920 (GRCm39)	S143P	possibly damaging	Het
Tmem202	A	T	9: 59,426,929 (GRCm39)	C194S	probably benign	Het
Tmprss15	A	T	16: 78,884,403 (GRCm39)	I93K	probably damaging	Het
Ttn	A	G	2: 76,606,653 (GRCm39)	Y16340H	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
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
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

2021-01-18