Mutagenetix > Incidental Mutation

Incidental Mutation 'R1955:Uckl1'

217639

Institutional Source

Beutler Lab

Gene Symbol

Uckl1

Ensembl Gene

ENSMUSG00000089917

Gene Name

uridine-cytidine kinase 1-like 1

Synonyms

Urkl1, 1110007H10Rik

MMRRC Submission

039969-MU

Accession Numbers

Essential gene?

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

Stock #

R1955 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181210942-181223820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181212320 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 332 (Q332R)

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: Q332R

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: Q332R

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

noncoding transcript
Transcript: ENSMUST00000124315

Predicted Effect

silent
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

noncoding transcript
Transcript: ENSMUST00000130893

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

noncoding transcript
Transcript: ENSMUST00000142296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156998

Predicted Effect

silent
Transcript: ENSMUST00000154613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155182

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

Meta Mutation Damage Score

0.7236

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	T	A	1: 53,202,400 (GRCm39)	K128N	probably benign	Het
Acadm	A	C	3: 153,635,188 (GRCm39)	F309V	probably damaging	Het
Adam6b	C	A	12: 113,455,436 (GRCm39)	A751E	probably benign	Het
Adcy9	A	G	16: 4,236,523 (GRCm39)	I296T	possibly damaging	Het
Arhgap45	A	G	10: 79,862,326 (GRCm39)	E471G	probably benign	Het
Atcay	T	C	10: 81,050,627 (GRCm39)	D96G	possibly damaging	Het
B3galt4	T	A	17: 34,169,606 (GRCm39)	R211*	probably null	Het
Bpi	T	C	2: 158,116,635 (GRCm39)	I344T	probably damaging	Het
Btnl4	T	C	17: 34,691,904 (GRCm39)	K233E	possibly damaging	Het
Cars2	A	T	8: 11,600,286 (GRCm39)	Y68N	probably damaging	Het
Cd207	T	A	6: 83,648,757 (GRCm39)	R302W	probably benign	Het
Cdc5l	T	C	17: 45,737,442 (GRCm39)		probably null	Het
Chaf1a	C	T	17: 56,354,540 (GRCm39)	T270I	unknown	Het
Col4a1	C	T	8: 11,258,228 (GRCm39)		probably null	Het
Col7a1	G	T	9: 108,784,732 (GRCm39)	V187L	unknown	Het
Cry1	G	A	10: 84,980,042 (GRCm39)	T422I	probably benign	Het
Csgalnact1	C	T	8: 68,825,319 (GRCm39)	V392I	probably benign	Het
Cyp2c38	A	G	19: 39,393,131 (GRCm39)	L312P	probably damaging	Het
Ddx20	G	A	3: 105,586,878 (GRCm39)	T489M	possibly damaging	Het
Decr1	A	T	4: 15,924,256 (GRCm39)	N221K	probably benign	Het
Dennd4a	A	T	9: 64,759,749 (GRCm39)	T285S	probably benign	Het
Dgka	A	G	10: 128,566,058 (GRCm39)		probably null	Het
Dmd	A	T	X: 82,922,163 (GRCm39)	M1478L	probably benign	Het
Dvl1	G	A	4: 155,942,486 (GRCm39)	R584Q	possibly damaging	Het
Dync1li1	A	T	9: 114,550,814 (GRCm39)	S450C	probably damaging	Het
Ehbp1l1	A	G	19: 5,760,697 (GRCm39)	V1558A	possibly damaging	Het
Esr1	T	A	10: 4,807,125 (GRCm39)	M347K	probably damaging	Het
F2	T	A	2: 91,463,440 (GRCm39)	H148L	probably benign	Het
Fezf2	T	C	14: 12,342,644 (GRCm38)	N407S	probably benign	Het
Fscn3	T	A	6: 28,430,235 (GRCm39)	M135K	possibly damaging	Het
Ganab	T	G	19: 8,888,980 (GRCm39)	Y560*	probably null	Het
Garem2	T	C	5: 30,313,268 (GRCm39)	V44A	probably benign	Het
Gja4	A	G	4: 127,206,242 (GRCm39)	W174R	probably damaging	Het
Gja5	A	T	3: 96,958,957 (GRCm39)	H338L	probably benign	Het
Gm43517	A	G	12: 49,436,672 (GRCm39)		probably benign	Het
Iqch	A	T	9: 63,455,298 (GRCm39)	D166E	probably benign	Het
Kifc5b	T	A	17: 27,145,271 (GRCm39)		probably null	Het
Kmt2b	A	T	7: 30,274,776 (GRCm39)	M1976K	possibly damaging	Het
Leng1	A	T	7: 3,668,415 (GRCm39)	V11D	probably damaging	Het
Lrit3	A	G	3: 129,594,130 (GRCm39)	V149A	probably benign	Het
Lrpap1	A	G	5: 35,259,756 (GRCm39)	L114P	probably damaging	Het
Marveld3	T	A	8: 110,686,380 (GRCm39)	D162V	probably benign	Het
Mon2	A	T	10: 122,874,388 (GRCm39)	I320N	probably damaging	Het
Morc2b	T	C	17: 33,356,464 (GRCm39)	Y436C	probably damaging	Het
Myo7a	A	T	7: 97,704,128 (GRCm39)	V1928D	probably damaging	Het
Ncoa6	A	G	2: 155,248,741 (GRCm39)	V1521A	possibly damaging	Het
Nexmif	A	G	X: 103,127,559 (GRCm39)	S1453P	possibly damaging	Het
Nudt16l1	A	G	16: 4,758,189 (GRCm39)	M182V	probably benign	Het
Obp2b	A	T	2: 25,628,563 (GRCm39)	I106L	probably benign	Het
Or10ag59	T	A	2: 87,406,349 (GRCm39)	L307Q	probably damaging	Het
Or4a2	T	A	2: 89,248,755 (GRCm39)	M1L	probably damaging	Het
Or5h18	T	A	16: 58,847,774 (GRCm39)	R165S	probably damaging	Het
Or8b43	T	C	9: 38,360,984 (GRCm39)	I272T	probably benign	Het
Parl	T	A	16: 20,121,077 (GRCm39)	M1L	possibly damaging	Het
Pde7a	G	A	3: 19,281,963 (GRCm39)	A429V	probably damaging	Het
Pkd1l2	T	A	8: 117,770,100 (GRCm39)	M1119L	probably benign	Het
Plch1	C	T	3: 63,662,688 (GRCm39)	V272I	probably damaging	Het
Plekha4	G	A	7: 45,203,330 (GRCm39)	G740D	probably damaging	Het
Pnliprp1	A	G	19: 58,723,404 (GRCm39)	D265G	possibly damaging	Het
Pola1	A	C	X: 92,640,867 (GRCm39)	V384G	probably damaging	Het
Pon3	T	A	6: 5,230,774 (GRCm39)	D251V	probably benign	Het
Pot1b	A	G	17: 55,981,067 (GRCm39)	C316R	possibly damaging	Het
Prkaca	T	A	8: 84,714,946 (GRCm39)	V116E	probably damaging	Het
Prpf6	T	G	2: 181,273,870 (GRCm39)	M338R	probably benign	Het
Rasgef1c	A	G	11: 49,866,542 (GRCm39)	H382R	possibly damaging	Het
Rlig1	A	G	10: 100,413,166 (GRCm39)	V91A	probably damaging	Het
Rps25	C	T	9: 44,321,305 (GRCm39)	T113I	probably benign	Het
Serpinb1b	G	T	13: 33,269,422 (GRCm39)	A52S	probably benign	Het
Sh3yl1	A	G	12: 30,972,332 (GRCm39)	K34E	possibly damaging	Het
Siah2	C	T	3: 58,583,518 (GRCm39)	R256Q	probably damaging	Het
Slc24a2	A	G	4: 86,991,481 (GRCm39)	L404P	probably damaging	Het
Slc28a2	G	A	2: 122,278,347 (GRCm39)	C122Y	probably benign	Het
Slc4a8	T	C	15: 100,705,257 (GRCm39)	I821T	probably damaging	Het
Slc5a3	T	C	16: 91,874,762 (GRCm39)	V273A	possibly damaging	Het
Spag7	T	C	11: 70,555,844 (GRCm39)	Q61R	probably benign	Het
Syt7	A	T	19: 10,395,402 (GRCm39)	I71F	probably damaging	Het
Tars2	T	C	3: 95,654,766 (GRCm39)	N413S	probably damaging	Het
Tex14	T	A	11: 87,400,447 (GRCm39)	L413Q	probably damaging	Het
Tjp3	T	C	10: 81,113,833 (GRCm39)	E475G	probably damaging	Het
Tmem131l	A	G	3: 83,868,851 (GRCm39)	S175P	probably damaging	Het
Tmem144	C	T	3: 79,734,164 (GRCm39)	V180M	probably benign	Het
Tmem200c	A	T	17: 69,147,956 (GRCm39)	I180F	probably damaging	Het
Tmem232	G	T	17: 65,791,482 (GRCm39)	H129N	probably benign	Het
Tmprss11g	T	A	5: 86,646,391 (GRCm39)	I59F	probably damaging	Het
Tmprss2	T	A	16: 97,368,377 (GRCm39)		probably null	Het
Tor1aip2	T	A	1: 155,927,588 (GRCm39)		probably benign	Het
Trim61	T	C	8: 65,466,044 (GRCm39)	I406V	possibly damaging	Het
Trpv5	T	C	6: 41,634,871 (GRCm39)	D486G	probably damaging	Het
Try5	T	C	6: 41,288,703 (GRCm39)	E64G	probably benign	Het
Txlnb	A	G	10: 17,675,168 (GRCm39)	E107G	probably damaging	Het
Ube2frt	A	G	12: 36,140,595 (GRCm39)		probably benign	Het
Ugt2b1	T	C	5: 87,065,572 (GRCm39)	Y489C	probably damaging	Het
Ugt2b5	T	A	5: 87,275,631 (GRCm39)	M407L	probably benign	Het
Vmn1r191	A	T	13: 22,362,985 (GRCm39)	S256R	possibly damaging	Het
Vps13b	T	G	15: 35,925,554 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,713 (GRCm39)	F960S	probably damaging	Het
Xab2	T	A	8: 3,666,094 (GRCm39)	D227V	probably damaging	Het
Xaf1	A	T	11: 72,197,432 (GRCm39)	D136V	possibly damaging	Het
Zan	A	G	5: 137,387,545 (GRCm39)	S4889P	unknown	Het
Zfp78	A	G	7: 6,381,558 (GRCm39)	T203A	probably benign	Het
Zfp821	T	C	8: 110,447,874 (GRCm39)	S72P	probably 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
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
RF014:Uckl1	UTSW	2	181,211,987 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTCAATAAGCAGCCGCATC -3'
(R):5'- TCTTTCATGGGTCAGCCATAG -3'

Sequencing Primer
(F):5'- ATAAGCAGCCGCATCAGTCTTTTG -3'
(R):5'- ATGGGTCAGCCATAGCCAGC -3'

Posted On

2014-08-01