Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Uckl1'

692062

Institutional Source

Beutler Lab

Gene Symbol

Uckl1

Ensembl Gene

ENSMUSG00000089917

Gene Name

uridine-cytidine kinase 1-like 1

Synonyms

Urkl1, 1110007H10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181210942-181223820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181211293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 512 (V512A)

Ref Sequence

ENSEMBL: ENSMUSP00000050398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000129469] [ENSMUST00000136875] [ENSMUST00000154613]

AlphaFold

Q91YL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057816
AA Change: V512A

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: V512A

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:CPT	98	249	7e-10	PFAM
Pfam:PRK	100	288	5.7e-61	PFAM
Pfam:UPRTase	326	532	2.6e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129469

SMART Domains

Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
Pfam:CPT	98	210	5.1e-10	PFAM
Pfam:AAA_17	100	251	1.1e-8	PFAM
Pfam:PRK	100	288	3.4e-60	PFAM
Pfam:AAA_18	101	257	5.8e-8	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917
AA Change: V161A

Domain	Start	End	E-Value	Type
Pfam:UPRTase	1	182	9.8e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136875

SMART Domains

Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917

Domain	Start	End	E-Value	Type
Pfam:CPT	83	211	2.3e-10	PFAM
Pfam:AAA_17	85	235	4.9e-9	PFAM
Pfam:PRK	85	235	8.4e-47	PFAM
Pfam:AAA_18	86	235	2.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144856

SMART Domains

Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917

Domain	Start	End	E-Value	Type
low complexity region	1	12	N/A	INTRINSIC
Pfam:CPT	83	211	2.7e-10	PFAM
Pfam:PRK	85	253	7.7e-56	PFAM
Pfam:AAA_17	86	240	2.5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154613

Coding Region Coverage

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

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794 (GRCm39)	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,244,942 (GRCm39)	P137S	probably damaging	Het
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Abcg8	A	C	17: 85,000,243 (GRCm39)	I268L	probably benign	Het
Acvrl1	A	G	15: 101,039,038 (GRCm39)	Q445R	probably damaging	Het
Adam17	T	C	12: 21,380,132 (GRCm39)	N625D	probably benign	Het
Adamts9	C	T	6: 92,857,721 (GRCm39)	V856M	probably damaging	Het
Adar	T	C	3: 89,643,474 (GRCm39)	C452R	probably damaging	Het
Adgra3	G	T	5: 50,136,295 (GRCm39)	A730D	probably damaging	Het
Adnp2	C	T	18: 80,185,925 (GRCm39)	R16Q	probably damaging	Het
Aox1	T	C	1: 58,321,851 (GRCm39)	C48R	probably damaging	Het
Cabin1	T	C	10: 75,492,973 (GRCm39)	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,910 (GRCm39)	I199F	possibly damaging	Het
Ccdc191	T	A	16: 43,718,512 (GRCm39)	D36E	possibly damaging	Het
Cep170	T	A	1: 176,616,051 (GRCm39)	K86*	probably null	Het
Cnnm1	T	C	19: 43,464,649 (GRCm39)	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,276,634 (GRCm39)	V532E	probably benign	Het
Dnmt3l	T	C	10: 77,892,756 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,622,706 (GRCm39)		probably benign	Het
Dzank1	C	A	2: 144,364,391 (GRCm39)	V69L	probably benign	Het
Epor	T	G	9: 21,870,875 (GRCm39)	E335A	probably damaging	Het
Fbxo46	A	T	7: 18,870,308 (GRCm39)	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,202,779 (GRCm39)		probably benign	Het
Gid8	G	T	2: 180,352,132 (GRCm39)		probably benign	Het
Gm57858	T	G	3: 36,080,036 (GRCm39)	*240C	probably null	Het
Gnptab	C	T	10: 88,269,400 (GRCm39)	S701L		Het
Ifnl3	T	C	7: 28,223,704 (GRCm39)	L180P	probably benign	Het
Ikzf2	T	A	1: 69,577,956 (GRCm39)	I518F	probably damaging	Het
Ildr1	A	G	16: 36,535,919 (GRCm39)	T145A	probably benign	Het
Kiss1r	A	T	10: 79,754,336 (GRCm39)		probably benign	Het
Lhpp	A	G	7: 132,252,018 (GRCm39)	D219G	probably damaging	Het
Lrp1	A	T	10: 127,390,206 (GRCm39)	M3071K	probably damaging	Het
Map6	T	C	7: 98,986,103 (GRCm39)	L872P	probably damaging	Het
Mgst2	T	A	3: 51,589,233 (GRCm39)	L82Q	probably damaging	Het
Mier2	A	T	10: 79,377,756 (GRCm39)	V399E	probably benign	Het
Nms	T	C	1: 38,985,147 (GRCm39)	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 30,857,016 (GRCm39)	Y145*	probably null	Het
Olfml2a	A	T	2: 38,831,753 (GRCm39)	M111L	probably benign	Het
Or5p63	T	C	7: 107,810,846 (GRCm39)	N297D	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,779 (GRCm39)	L172Q	unknown	Het
Plod3	T	C	5: 137,018,017 (GRCm39)	I221T	probably damaging	Het
Polm	T	C	11: 5,779,872 (GRCm39)	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,521,303 (GRCm39)	L275F	probably damaging	Het
Prdm12	C	T	2: 31,533,929 (GRCm39)	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,458,890 (GRCm39)	V440M	probably damaging	Het
Rnf111	C	T	9: 70,336,846 (GRCm39)	G947D	probably damaging	Het
Runx3	A	T	4: 134,882,692 (GRCm39)	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104 (GRCm39)	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,284,082 (GRCm39)	V259I	probably benign	Het
Shroom3	T	C	5: 93,087,975 (GRCm39)	S242P	probably damaging	Het
Slc35e1	G	A	8: 73,246,030 (GRCm39)	P134L		Het
Spata31d1a	A	G	13: 59,850,982 (GRCm39)	V382A	probably benign	Het
Tanc2	T	A	11: 105,810,580 (GRCm39)		probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Trip10	C	T	17: 57,560,519 (GRCm39)	A123V	probably damaging	Het
Trmt13	A	G	3: 116,375,129 (GRCm39)	S460P	probably damaging	Het
Trpd52l3	A	G	19: 29,981,329 (GRCm39)	N28S	probably benign	Het
Tubb4a	A	G	17: 57,388,232 (GRCm39)	F265L	probably benign	Het
Uba6	A	T	5: 86,282,934 (GRCm39)	C581S	possibly damaging	Het
Usp34	A	T	11: 23,320,528 (GRCm39)	M957L		Het
Vmn2r57	T	C	7: 41,078,192 (GRCm39)	I89V	possibly damaging	Het
Zfp1005	T	A	2: 150,109,969 (GRCm39)	C220S	possibly damaging	Het
Zfp322a	T	C	13: 23,541,437 (GRCm39)	I102V	probably benign	Het
Zzef1	A	G	11: 72,790,604 (GRCm39)	D2186G	probably benign	Het

Other mutations in Uckl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Uckl1	APN	2	181,211,410 (GRCm39)	missense	probably benign	0.09
IGL01128:Uckl1	APN	2	181,212,130 (GRCm39)	missense	probably damaging	1.00
IGL01325:Uckl1	APN	2	181,216,754 (GRCm39)	nonsense	probably null
IGL01767:Uckl1	APN	2	181,211,327 (GRCm39)	missense	probably damaging	1.00
IGL02260:Uckl1	APN	2	181,211,381 (GRCm39)	missense	probably damaging	1.00
IGL02390:Uckl1	APN	2	181,216,212 (GRCm39)	missense	possibly damaging	0.59
IGL03369:Uckl1	APN	2	181,211,982 (GRCm39)	missense	probably benign	0.00
R0001:Uckl1	UTSW	2	181,216,448 (GRCm39)	missense	probably damaging	1.00
R0528:Uckl1	UTSW	2	181,212,283 (GRCm39)	splice site	probably benign
R1037:Uckl1	UTSW	2	181,214,278 (GRCm39)	missense	possibly damaging	0.67
R1355:Uckl1	UTSW	2	181,215,169 (GRCm39)	missense	probably damaging	1.00
R1416:Uckl1	UTSW	2	181,211,362 (GRCm39)	missense	possibly damaging	0.79
R1435:Uckl1	UTSW	2	181,214,926 (GRCm39)	missense	probably benign	0.01
R1676:Uckl1	UTSW	2	181,216,711 (GRCm39)	missense	probably damaging	1.00
R1723:Uckl1	UTSW	2	181,212,393 (GRCm39)	critical splice acceptor site	probably null
R1954:Uckl1	UTSW	2	181,212,320 (GRCm39)	missense	probably benign	0.17
R1955:Uckl1	UTSW	2	181,212,320 (GRCm39)	missense	probably benign	0.17
R3972:Uckl1	UTSW	2	181,216,256 (GRCm39)	missense	probably damaging	0.98
R4664:Uckl1	UTSW	2	181,216,661 (GRCm39)	missense	possibly damaging	0.91
R4666:Uckl1	UTSW	2	181,216,661 (GRCm39)	missense	possibly damaging	0.91
R5306:Uckl1	UTSW	2	181,216,160 (GRCm39)	critical splice donor site	probably null
R5751:Uckl1	UTSW	2	181,216,245 (GRCm39)	missense	possibly damaging	0.81
R5758:Uckl1	UTSW	2	181,211,746 (GRCm39)	missense	probably damaging	1.00
R6174:Uckl1	UTSW	2	181,214,866 (GRCm39)	critical splice donor site	probably null
R6662:Uckl1	UTSW	2	181,215,053 (GRCm39)	missense	possibly damaging	0.87
R6865:Uckl1	UTSW	2	181,216,286 (GRCm39)	missense	probably damaging	1.00
R7051:Uckl1	UTSW	2	181,216,037 (GRCm39)	missense	probably damaging	1.00
R7643:Uckl1	UTSW	2	181,214,899 (GRCm39)	missense	probably benign	0.08
R7818:Uckl1	UTSW	2	181,216,460 (GRCm39)	missense	probably damaging	0.97
R8094:Uckl1	UTSW	2	181,215,049 (GRCm39)	missense	probably damaging	1.00
R8341:Uckl1	UTSW	2	181,211,512 (GRCm39)	missense	probably benign	0.00
R8515:Uckl1	UTSW	2	181,216,280 (GRCm39)	missense	probably damaging	1.00
R8980:Uckl1	UTSW	2	181,216,157 (GRCm39)	unclassified	probably benign
R9377:Uckl1	UTSW	2	181,211,532 (GRCm39)	missense	probably damaging	1.00
RF014:Uckl1	UTSW	2	181,211,987 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGTGGCTGCCTCATCATC -3'
(R):5'- GATGGCTGTACGTGTACTCCTG -3'

Sequencing Primer
(F):5'- TCATCATCACTGCCATCAGGG -3'
(R):5'- ACGTGTACTCCTGGTAAGTAGACC -3'

Posted On

2021-12-30