Mutagenetix > Incidental Mutation

Incidental Mutation 'RF014:Uckl1'

603388

Institutional Source

Beutler Lab

Gene Symbol

Uckl1

Ensembl Gene

ENSMUSG00000089917

Gene Name

uridine-cytidine kinase 1-like 1

Synonyms

Urkl1, 1110007H10Rik

Accession Numbers

Essential gene?

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

Stock #

RF014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

181210942-181223820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181211987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 373 (D373G)

Ref Sequence

ENSEMBL: ENSMUSP00000050398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000129469] [ENSMUST00000131949] [ENSMUST00000136875] [ENSMUST00000154613]

AlphaFold

Q91YL3

Predicted Effect

probably benign
Transcript: ENSMUST00000057816
AA Change: D373G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: D373G

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

probably benign
Transcript: ENSMUST00000131949

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917
AA Change: D27G

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.6%

Validation Efficiency

98% (49/50)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430401F13Rik	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,820 (GRCm39)		probably benign	Het
A2ml1	T	C	6: 128,547,031 (GRCm39)	N366S	probably damaging	Het
Abca5	T	C	11: 110,170,580 (GRCm39)		probably null	Het
Acaca	T	C	11: 84,122,550 (GRCm39)	V323A	probably benign	Het
Agbl3	T	A	6: 34,776,293 (GRCm39)	D266E	possibly damaging	Het
Aggf1	A	T	13: 95,507,276 (GRCm39)	S170T	possibly damaging	Het
Amhr2	A	T	15: 102,361,589 (GRCm39)	S467C	probably benign	Het
Begain	GCCGCC	GCCGCCACCGCC	12: 108,999,348 (GRCm39)		probably benign	Het
Best3	A	T	10: 116,840,410 (GRCm39)	Q280L	probably damaging	Het
Calhm1	CTGTGGCTGTGG	CTGTGGCTGTGGGTGTGGCTGTGG	19: 47,129,704 (GRCm39)		probably benign	Het
Ccdc186	A	G	19: 56,801,904 (GRCm39)	L71S	probably benign	Het
Ces1d	C	A	8: 93,902,793 (GRCm39)		probably null	Het
Chga	AGC	AGCGGC	12: 102,527,652 (GRCm39)		probably benign	Het
Chga	AGC	AGCTGC	12: 102,527,664 (GRCm39)		probably benign	Het
Clstn3	T	A	6: 124,436,225 (GRCm39)	K212*	probably null	Het
Col16a1	TTTTT	TTTTTCTTTT	4: 129,986,860 (GRCm39)		probably benign	Het
Cpxm2	G	T	7: 131,672,592 (GRCm39)	T319K	possibly damaging	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACCGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dst	T	C	1: 34,286,760 (GRCm39)	S3364P	probably benign	Het
Edc4	C	T	8: 106,611,232 (GRCm39)	T61M	probably benign	Het
Fndc5	A	G	4: 129,035,960 (GRCm39)	H199R	probably benign	Het
Gm43302	T	A	5: 105,422,623 (GRCm39)	I470F	possibly damaging	Het
Gne	G	T	4: 44,060,045 (GRCm39)	A147D	probably damaging	Het
Igkv12-89	G	GCAACGCCAC	6: 68,812,270 (GRCm39)		probably benign	Het
Irf9	C	T	14: 55,843,334 (GRCm39)	R179*	probably null	Het
Jakmip1	A	T	5: 37,331,870 (GRCm39)	K850M	possibly damaging	Het
Kalrn	G	A	16: 33,860,303 (GRCm39)	T1884I	probably benign	Het
Krtap28-10	CCACCACAGCCACAGCCACCACAGCCACAG	CCACCACAGCCACAGACACCACAGCCACAGCCACCACAGCCACAG	1: 83,019,972 (GRCm39)		probably benign	Het
Las1l	CTCCTCCTTCTCCTCTTCCTC	CTCCTC	X: 94,984,263 (GRCm39)		probably benign	Het
Lctl	A	G	9: 64,026,212 (GRCm39)	Y89C	probably damaging	Het
Lpgat1	GCC	GCCTCC	1: 191,450,665 (GRCm39)		probably benign	Het
Luzp2	A	T	7: 54,821,953 (GRCm39)	I157F	probably damaging	Het
Lyz3	A	G	10: 117,070,322 (GRCm39)	*152Q	probably null	Het
Mamld1	GCA	GCACCA	X: 70,162,451 (GRCm39)		probably benign	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Mbd3l1	A	T	9: 18,396,296 (GRCm39)	E140D	possibly damaging	Het
Mlh3	T	A	12: 85,314,803 (GRCm39)	Q461L	probably benign	Het
Mto1	G	T	9: 78,355,598 (GRCm39)	R7L	probably benign	Het
Muc4	A	T	16: 32,570,676 (GRCm39)	S579C	probably damaging	Het
Ngfr	T	C	11: 95,469,027 (GRCm39)	Y117C	probably damaging	Het
Or10aa3	A	T	1: 173,878,553 (GRCm39)	I205F	possibly damaging	Het
Or13a23-ps1	A	T	7: 140,118,690 (GRCm39)	M87L	probably benign	Het
Or8d2b	C	A	9: 38,789,196 (GRCm39)	H241Q	probably benign	Het
Plch2	A	G	4: 155,091,577 (GRCm39)	S179P	probably damaging	Het
Pogz	T	G	3: 94,785,558 (GRCm39)	S838A	possibly damaging	Het
Polr1has	CACCACCACCAC	CACCACCACCACCACCACCACGACCACCACCAC	17: 37,275,952 (GRCm39)		probably benign	Het
Pot1b	T	A	17: 55,981,106 (GRCm39)	T303S	probably benign	Het
Pou2f2	T	A	7: 24,815,162 (GRCm39)	I72L	unknown	Het
Ptpn4	A	G	1: 119,612,195 (GRCm39)		probably null	Het
Ptprs	A	T	17: 56,723,935 (GRCm39)	I1686N	probably damaging	Het
Rfx4	CTCTCT	CTCTCTCTCTCTCTCTTTCTCT	10: 84,694,353 (GRCm39)		probably benign	Het
Rnf14	T	A	18: 38,442,623 (GRCm39)	V308E	probably damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,518 (GRCm39)		probably benign	Het
Sgo2b	T	C	8: 64,384,439 (GRCm39)	T186A	possibly damaging	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCA	CAGCGATCCTCCCCAGTCCCGCAGGGCGAGCGATCCTCCCCAGTCCCGCA	5: 77,164,247 (GRCm39)		probably benign	Het
Stox1	T	A	10: 62,500,025 (GRCm39)	H845L	probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Trim33	T	C	3: 103,236,408 (GRCm39)	V506A	possibly damaging	Het
Vmn2r94	G	T	17: 18,473,549 (GRCm39)	C492*	probably null	Het
Wdr33	A	G	18: 32,014,326 (GRCm39)	D396G	probably damaging	Het
Ypel1	C	T	16: 16,915,282 (GRCm39)	V109M	probably damaging	Het
Zbtb11	A	T	16: 55,800,960 (GRCm39)	I105L	probably damaging	Het
Zbtb40	A	T	4: 136,744,617 (GRCm39)	C268S	probably benign	Het
Zfp36l1	T	A	12: 80,156,518 (GRCm39)	M288L	probably benign	Het
Zfp384	CC	CCAAGGCCCAGGAC	6: 125,013,429 (GRCm39)		probably benign	Het
Zfp87	A	G	13: 74,523,173 (GRCm39)	F15S	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
R9108:Uckl1	UTSW	2	181,211,293 (GRCm39)	missense	probably damaging	0.97
R9377:Uckl1	UTSW	2	181,211,532 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCACGCAGAATTGACACG -3'
(R):5'- TTCTACCACCAGGGACAAGGAG -3'

Sequencing Primer
(F):5'- ACGCCGGTGATCTAGTGG -3'
(R):5'- CATCTTCTACTCCAAAAGACTGATG -3'

Posted On

2019-12-04