Mutagenetix > Incidental Mutation

Incidental Mutation 'R8438:Uck1'

654076

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

067778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8438 (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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,201,962 (GRCm39)		probably null	Het
5730480H06Rik	A	T	5: 48,534,425 (GRCm39)	H95L	probably damaging	Het
Abca8a	A	G	11: 109,966,404 (GRCm39)	Y410H	probably damaging	Het
Abcb4	G	A	5: 8,996,120 (GRCm39)		probably null	Het
Adam8	C	T	7: 139,565,249 (GRCm39)		probably null	Het
Aldh1l1	C	T	6: 90,536,428 (GRCm39)	P111L	probably damaging	Het
Baz2b	G	T	2: 59,747,828 (GRCm39)	Y1278*	probably null	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp9	C	A	4: 141,540,934 (GRCm39)	T434N	probably benign	Het
Cd19	C	A	7: 126,013,515 (GRCm39)	M91I	possibly damaging	Het
Celsr2	G	A	3: 108,301,139 (GRCm39)	T2718M	probably damaging	Het
Clptm1	G	T	7: 19,379,776 (GRCm39)	D153E	probably benign	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Col1a2	G	T	6: 4,515,518 (GRCm39)	G127V	unknown	Het
Crybg3	A	G	16: 59,385,655 (GRCm39)	S190P	probably benign	Het
Ddrgk1	G	A	2: 130,505,302 (GRCm39)		probably benign	Het
Dennd1a	T	C	2: 37,746,150 (GRCm39)	H402R	probably benign	Het
Dgat2	T	C	7: 98,806,207 (GRCm39)	Y330C	probably damaging	Het
Dnah7b	G	A	1: 46,227,839 (GRCm39)	C1354Y	probably damaging	Het
Ecd	T	A	14: 20,388,533 (GRCm39)	I119L	possibly damaging	Het
Entpd1	A	G	19: 40,725,224 (GRCm39)	K437E	possibly damaging	Het
Fcgbp	C	T	7: 27,789,231 (GRCm39)	A599V	probably benign	Het
Gtf3c1	G	T	7: 125,241,701 (GRCm39)	S1999*	probably null	Het
Hesx1	C	T	14: 26,723,460 (GRCm39)	R97C	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hoxb3	A	G	11: 96,236,609 (GRCm39)	N229S	probably benign	Het
Itpk1	G	A	12: 102,572,418 (GRCm39)		probably benign	Het
Itprid1	C	T	6: 55,874,878 (GRCm39)	S276L	probably damaging	Het
Masp1	T	C	16: 23,289,153 (GRCm39)	D549G	probably benign	Het
Mef2c	A	G	13: 83,804,336 (GRCm39)	E312G	probably damaging	Het
Morn5	A	G	2: 35,945,076 (GRCm39)	K100R	probably benign	Het
Mphosph9	A	T	5: 124,430,455 (GRCm39)	D610E	probably benign	Het
Obox6	G	C	7: 15,567,853 (GRCm39)	A198G	probably damaging	Het
Or2t43	A	T	11: 58,457,665 (GRCm39)	S169T	possibly damaging	Het
Or4a75	C	T	2: 89,448,054 (GRCm39)	V161M	possibly damaging	Het
Or4a80	A	T	2: 89,583,061 (GRCm39)	M37K	probably damaging	Het
Or6b13	C	A	7: 139,782,170 (GRCm39)	C171F	probably damaging	Het
Pcdhgb2	A	G	18: 37,825,232 (GRCm39)	N741S	probably benign	Het
Plekhh2	A	G	17: 84,877,379 (GRCm39)	N575D	probably benign	Het
Plxna4	C	A	6: 32,179,115 (GRCm39)	G967W	probably damaging	Het
Ppp3cb	C	T	14: 20,565,658 (GRCm39)	M373I	probably damaging	Het
Sec14l2	C	A	11: 4,059,202 (GRCm39)	E156*	probably null	Het
Srrt	A	T	5: 137,301,262 (GRCm39)	Y55N	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,743,057 (GRCm39)	T789I	probably damaging	Het
Top3b	G	T	16: 16,709,364 (GRCm39)	S684I	probably benign	Het
Trpc4	A	G	3: 54,129,674 (GRCm39)	I147V	possibly damaging	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Vmn1r31	T	A	6: 58,449,646 (GRCm39)	D73V		Het
Wasf3	A	T	5: 146,390,237 (GRCm39)	Q127L	probably benign	Het
Xpo6	T	C	7: 125,760,054 (GRCm39)	T182A	possibly damaging	Het
Xpo7	C	A	14: 70,940,672 (GRCm39)	R139S	probably benign	Het
Zfp687	A	T	3: 94,915,433 (GRCm39)	S1058T	probably benign	Het
Zfp786	T	C	6: 47,796,934 (GRCm39)	E668G	probably damaging	Het
Zfp831	A	T	2: 174,486,796 (GRCm39)	R490S	possibly 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
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'- TGAGCTTGTGCACTGAGTGAC -3'
(R):5'- ATAAGGCAGGGACGGTCCTAAC -3'

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

Posted On

2020-10-20