Mutagenetix > Incidental Mutation

Incidental Mutation 'R8094:Uckl1'

630049

Institutional Source

Beutler Lab

Gene Symbol

Uckl1

Ensembl Gene

ENSMUSG00000089917

Gene Name

uridine-cytidine kinase 1-like 1

Synonyms

Urkl1, 1110007H10Rik

MMRRC Submission

067526-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R8094 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

181210942-181223820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181215049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 268 (I268T)

Ref Sequence

ENSEMBL: ENSMUSP00000050398 (fasta)

Gene Model

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

AlphaFold

Q91YL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000057816
AA Change: I268T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: I268T

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 damaging
Transcript: ENSMUST00000129469
AA Change: I268T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: I268T

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

probably benign
Transcript: ENSMUST00000134340

SMART Domains

Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917

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

SMART Domains

Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
AA Change: I252T

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: 99.2%
20x: 98.0%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	T	A	8: 12,329,824 (GRCm39)	L93H	unknown	Het
A2ml1	A	G	6: 128,549,045 (GRCm39)	Y246H	probably damaging	Het
Akap11	C	A	14: 78,750,413 (GRCm39)	C658F		Het
Arid2	T	G	15: 96,266,592 (GRCm39)	S547A	possibly damaging	Het
Atf1	C	A	15: 100,143,170 (GRCm39)	D46E	probably damaging	Het
Brca2	T	A	5: 150,459,634 (GRCm39)	F303Y	possibly damaging	Het
Btbd18	T	A	2: 84,498,260 (GRCm39)	S633T	possibly damaging	Het
Btg4	T	G	9: 51,030,445 (GRCm39)	F182V	probably benign	Het
Cacna1e	G	A	1: 154,437,516 (GRCm39)	S340F	probably damaging	Het
Camta2	A	G	11: 70,576,903 (GRCm39)	W41R	probably damaging	Het
Cbl	A	T	9: 44,074,696 (GRCm39)	D455E	probably benign	Het
Ccdc162	A	T	10: 41,488,864 (GRCm39)	D1208E	probably benign	Het
Cd177	A	T	7: 24,443,842 (GRCm39)	M752K	probably damaging	Het
Cep290	A	T	10: 100,380,793 (GRCm39)	H100L	possibly damaging	Het
Chrnb2	T	A	3: 89,668,698 (GRCm39)	I206F	probably damaging	Het
Cyp2c40	A	G	19: 39,791,009 (GRCm39)	L274S	probably benign	Het
Cyp2c40	T	A	19: 39,791,015 (GRCm39)	Y272F	probably benign	Het
Cyp2d22	C	A	15: 82,258,556 (GRCm39)	A102S	probably benign	Het
Cyp51	C	T	5: 4,136,490 (GRCm39)	E435K	probably benign	Het
Dchs2	T	C	3: 83,262,929 (GRCm39)	F3066L	probably benign	Het
Disp1	C	A	1: 182,869,192 (GRCm39)	R1076L	probably damaging	Het
Dkk2	C	T	3: 131,791,801 (GRCm39)	A3V	probably benign	Het
Dnah7b	T	C	1: 46,165,964 (GRCm39)	F543S	probably benign	Het
Dpt	A	T	1: 164,624,481 (GRCm39)	S61C	probably damaging	Het
Drg2	A	T	11: 60,353,096 (GRCm39)	Y243F	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Dst	T	G	1: 34,228,040 (GRCm39)	L1878V	possibly damaging	Het
F5	A	G	1: 164,036,509 (GRCm39)	Y1890C	probably benign	Het
Fat1	T	C	8: 45,405,739 (GRCm39)	V830A	probably damaging	Het
Fat2	C	T	11: 55,186,965 (GRCm39)	D1294N	probably benign	Het
Fbxo15	A	G	18: 84,983,618 (GRCm39)	Y322C	probably benign	Het
Fcsk	A	G	8: 111,622,604 (GRCm39)	F108S	probably damaging	Het
Fhit	A	T	14: 10,751,666 (GRCm38)	N7K	unknown	Het
Gabrb2	A	G	11: 42,488,370 (GRCm39)	I279V	probably damaging	Het
Galk2	T	C	2: 125,773,189 (GRCm39)	F207S	probably damaging	Het
Gtpbp3	C	T	8: 71,941,480 (GRCm39)	L17F	possibly damaging	Het
Gucy2c	T	A	6: 136,714,446 (GRCm39)	D460V	probably benign	Het
Herc1	G	A	9: 66,400,462 (GRCm39)	V4329I	probably damaging	Het
Iqcn	T	C	8: 71,162,067 (GRCm39)	V420A	probably benign	Het
Kirrel3	G	A	9: 34,946,460 (GRCm39)	V740M	probably damaging	Het
Macf1	C	A	4: 123,263,660 (GRCm39)	V6956L	probably damaging	Het
Mill1	C	T	7: 17,989,835 (GRCm39)	A39V	probably benign	Het
Mkln1	T	A	6: 31,469,588 (GRCm39)	Y599*	probably null	Het
Mrpl14	T	A	17: 46,009,039 (GRCm39)	L46Q	possibly damaging	Het
Myom2	G	T	8: 15,119,418 (GRCm39)	R103L	possibly damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndst2	A	T	14: 20,778,232 (GRCm39)	V449D	probably damaging	Het
Nell1	T	A	7: 49,770,335 (GRCm39)	H131Q	probably benign	Het
Nos3	G	C	5: 24,572,218 (GRCm39)	R97P	probably benign	Het
Npc1	A	T	18: 12,327,297 (GRCm39)	F1099L	probably benign	Het
Nxpe5	T	A	5: 138,249,802 (GRCm39)	W531R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1j1	A	T	2: 36,702,330 (GRCm39)	L258H	probably damaging	Het
Or4c110	T	C	2: 88,832,712 (GRCm39)		probably benign	Het
Or5b98	A	T	19: 12,931,366 (GRCm39)	T138S	probably benign	Het
Or6c210	A	G	10: 129,495,933 (GRCm39)	D86G	probably damaging	Het
Osmr	T	C	15: 6,845,102 (GRCm39)	N889S	possibly damaging	Het
Oxct2b	A	G	4: 123,010,301 (GRCm39)	I74V	possibly damaging	Het
Pakap	A	G	4: 57,886,319 (GRCm39)	T859A	possibly damaging	Het
Phldb3	C	A	7: 24,326,134 (GRCm39)	A572D	probably damaging	Het
Pigr	A	G	1: 130,774,247 (GRCm39)	E409G	probably damaging	Het
Ptprs	T	C	17: 56,735,947 (GRCm39)	E674G	probably benign	Het
Ptpru	G	A	4: 131,520,903 (GRCm39)	T801I	possibly damaging	Het
Ralgapa1	T	A	12: 55,829,631 (GRCm39)	D200V	probably damaging	Het
Rb1cc1	A	T	1: 6,333,448 (GRCm39)	R1429*	probably null	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rnpep	A	T	1: 135,211,514 (GRCm39)	L78Q	probably damaging	Het
Rtn2	A	T	7: 19,027,791 (GRCm39)	I394F	probably damaging	Het
Satb2	A	T	1: 56,870,623 (GRCm39)	V572D	possibly damaging	Het
Sds	T	C	5: 120,617,001 (GRCm39)		probably benign	Het
Serpina10	TTCCTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCCTCC	12: 103,595,032 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,056,300 (GRCm39)	I828T	possibly damaging	Het
Slc25a33	T	A	4: 149,840,609 (GRCm39)	K79N	probably benign	Het
Slc25a51	A	C	4: 45,399,783 (GRCm39)	F136V	probably benign	Het
Slfn14	T	A	11: 83,174,119 (GRCm39)	K291*	probably null	Het
Sp100	A	G	1: 85,624,819 (GRCm39)	K403E	possibly damaging	Het
Spaca1	C	T	4: 34,049,837 (GRCm39)	E54K	possibly damaging	Het
Sympk	T	G	7: 18,787,373 (GRCm39)		probably null	Het
Syne1	A	T	10: 5,067,031 (GRCm39)	V7078D	probably damaging	Het
Tas2r121	T	A	6: 132,677,772 (GRCm39)	I67L	probably benign	Het
Tha1	T	C	11: 117,759,323 (GRCm39)	K389E	probably benign	Het
Thbs2	T	A	17: 14,900,584 (GRCm39)	Q541L	probably benign	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmem94	T	C	11: 115,679,218 (GRCm39)		probably null	Het
Tnfsf13	A	G	11: 69,575,983 (GRCm39)	C35R	probably damaging	Het
Trcg1	C	A	9: 57,149,564 (GRCm39)	Q379K	probably benign	Het
Ubr4	T	C	4: 139,168,007 (GRCm39)	S1507P	probably damaging	Het
Uvrag	T	C	7: 98,641,174 (GRCm39)	K289E	possibly damaging	Het
Vmn2r104	C	A	17: 20,250,483 (GRCm39)	C596F	possibly damaging	Het
Vmn2r11	A	T	5: 109,201,626 (GRCm39)	F293I	probably damaging	Het
Vps13b	T	A	15: 35,669,052 (GRCm39)		probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zscan4f	T	A	7: 11,135,154 (GRCm39)	C187S	possibly damaging	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
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
RF014:Uckl1	UTSW	2	181,211,987 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGTGAACATGCTGCACAATC -3'
(R):5'- TTGGCTGTATCGATCCTGGC -3'

Sequencing Primer
(F):5'- CACAATCAGGTCAATGGCTACTGTG -3'
(R):5'- CTGTCTGATAGTGCCCCTGG -3'

Posted On

2020-06-30