Mutagenetix > Incidental Mutation

Incidental Mutation 'R4666:Uckl1'

351891

Institutional Source

Beutler Lab

Gene Symbol

Uckl1

Ensembl Gene

ENSMUSG00000089917

Gene Name

uridine-cytidine kinase 1-like 1

Synonyms

Urkl1, 1110007H10Rik

MMRRC Submission

041924-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.289) question?

Stock #

R4666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181569149-181584892 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 181574868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 95 (S95T)

Ref Sequence

ENSEMBL: ENSMUSP00000121607 (fasta)

Gene Model

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

AlphaFold

Q91YL3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057816
AA Change: S95T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: S95T

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: ENSMUST00000122831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123110

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126672

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129469
AA Change: S95T

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: S95T

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
AA Change: S80T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917
AA Change: S80T

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: ENSMUST00000138408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146823

Predicted Effect

unknown
Transcript: ENSMUST00000144856
AA Change: S79T

SMART Domains

Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
AA Change: S79T

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

noncoding transcript
Transcript: ENSMUST00000148847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148004

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155182

Predicted Effect

probably benign
Transcript: ENSMUST00000154613

Meta Mutation Damage Score

0.0609

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410137M14Rik	G	A	17: 36,978,902	S12L	probably benign	Het
4921507P07Rik	G	T	6: 50,595,828	T35K	possibly damaging	Het
4931406P16Rik	T	C	7: 34,284,773	M142V	probably damaging	Het
Abce1	A	G	8: 79,687,486	V532A	probably damaging	Het
Adamts12	T	A	15: 11,311,492	N1278K	probably benign	Het
Adipor1	T	A	1: 134,424,905	I138N	probably damaging	Het
Aox2	C	T	1: 58,304,597	Q480*	probably null	Het
Arhgef38	C	T	3: 133,140,772		probably null	Het
Atmin	A	G	8: 116,957,959	D786G	probably damaging	Het
Capn1	A	T	19: 6,011,015	N253K	probably benign	Het
Cdh8	T	C	8: 99,024,902	T728A	possibly damaging	Het
Celsr1	A	G	15: 86,030,494	S1093P	probably damaging	Het
Cep135	C	A	5: 76,616,854	P560T	probably benign	Het
Chfr	C	T	5: 110,144,867	Q167*	probably null	Het
Chrna4	A	G	2: 181,037,493	S54P	probably damaging	Het
Cntln	A	G	4: 84,971,216	N312S	probably benign	Het
Cntn6	A	G	6: 104,728,284	E154G	probably benign	Het
Col6a6	T	A	9: 105,767,342	Y1249F	possibly damaging	Het
Cpsf2	T	C	12: 101,983,207	S61P	probably damaging	Het
Cpvl	C	T	6: 53,931,933	E282K	probably benign	Het
Cryba2	C	T	1: 74,890,048	D179N	probably benign	Het
Daglb	A	T	5: 143,503,349	R654W	probably damaging	Het
Dennd3	A	G	15: 73,570,860	D1244G	probably damaging	Het
Dhx57	T	C	17: 80,274,961	E405G	probably damaging	Het
Dnah10	T	C	5: 124,828,472	M4060T	possibly damaging	Het
Dph1	A	G	11: 75,181,330	S238P	probably damaging	Het
Duox1	C	T	2: 122,319,475	P116S	probably benign	Het
Ebf1	A	G	11: 44,991,557	N447D	probably damaging	Het
Epg5	A	G	18: 78,012,864	N1751S	probably benign	Het
Exoc6	A	G	19: 37,570,505	D75G	probably damaging	Het
Extl2	T	A	3: 116,024,207	I70N	probably damaging	Het
Fam129c	G	T	8: 71,603,825	E390*	probably null	Het
Fanca	T	C	8: 123,268,972	T1364A	probably damaging	Het
Fbln7	T	A	2: 128,894,910		probably null	Het
Foxa3	G	T	7: 19,014,372	C275*	probably null	Het
Foxred1	C	T	9: 35,210,855		probably benign	Het
Galr2	A	G	11: 116,283,629	T362A	probably benign	Het
Garem2	C	A	5: 30,114,667	R376S	probably damaging	Het
Gatc	T	A	5: 115,335,547	N111I	probably benign	Het
Gjb4	C	A	4: 127,351,778	K123N	probably damaging	Het
Gm14025	T	C	2: 129,038,230	H592R	probably benign	Het
Gm9894	T	C	13: 67,765,094		noncoding transcript	Het
Gtdc1	T	C	2: 44,591,925	N301S	probably benign	Het
Gtf2ird1	T	A	5: 134,383,902	E55V	probably damaging	Het
Gtsf1	T	C	15: 103,421,205	I96V	probably benign	Het
Homer1	T	A	13: 93,402,159	I170N	probably damaging	Het
Homer3	G	A	8: 70,290,143		probably null	Het
Hoxb9	A	G	11: 96,274,831	K242R	possibly damaging	Het
Ifna14	T	C	4: 88,571,336	R155G	probably benign	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,318,408		probably benign	Het
Lsm11	A	G	11: 45,933,813	S296P	probably damaging	Het
Macrod2	T	C	2: 142,217,599	L265P	probably damaging	Het
Mcu	G	A	10: 59,456,699	L53F	probably damaging	Het
Mpv17l2	A	G	8: 70,760,415	V104A	possibly damaging	Het
Myh10	G	A	11: 68,801,730		probably null	Het
Nemf	T	C	12: 69,312,280	E1031G	probably damaging	Het
Nhsl1	G	A	10: 18,531,405	S1395N	probably damaging	Het
Nlrp2	T	A	7: 5,319,189	I82F	probably benign	Het
Nlrp4e	T	A	7: 23,336,780	L686*	probably null	Het
Nudt12os	T	A	17: 59,024,551		noncoding transcript	Het
Olfr1122	T	A	2: 87,387,876	I57K	probably damaging	Het
Olfr16	G	A	1: 172,957,590	S265N	probably benign	Het
Olfr180	T	C	16: 58,916,584	D19G	probably benign	Het
Olfr205	A	G	16: 59,329,210	Y100H	possibly damaging	Het
Olfr93	A	T	17: 37,151,379	S44T	possibly damaging	Het
Olfr944	T	A	9: 39,217,846	M163K	probably damaging	Het
Pde7a	T	C	3: 19,260,256	T59A	probably damaging	Het
Pde7b	A	C	10: 20,438,750	D203E	probably damaging	Het
Phkg2	T	A	7: 127,577,984	I94N	possibly damaging	Het
Pik3r2	G	A	8: 70,768,859	T667I	possibly damaging	Het
Pitx3	T	A	19: 46,137,101	H68L	possibly damaging	Het
Prcd	A	G	11: 116,668,164		probably benign	Het
Prune2	C	T	19: 17,120,188	R1019*	probably null	Het
Psap	A	G	10: 60,300,545	D486G	probably benign	Het
Purb	A	T	11: 6,475,615	V91E	probably damaging	Het
Recql	C	A	6: 142,376,841	V112F	probably damaging	Het
Rptor	A	T	11: 119,743,882	I175F	probably damaging	Het
Sbf1	C	T	15: 89,295,246	V1385M	probably damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Slc35f6	T	C	5: 30,655,613	L37P	probably damaging	Het
Slc6a3	T	A	13: 73,538,581	N22K	possibly damaging	Het
Sorl1	A	T	9: 42,004,051	M1294K	probably damaging	Het
Sp6	C	A	11: 97,021,875	A138E	probably benign	Het
Spag8	G	T	4: 43,653,408		probably benign	Het
Spon1	T	A	7: 114,028,969	M320K	probably benign	Het
Tceanc2	A	T	4: 107,165,560	S77T	probably damaging	Het
Thsd7a	T	A	6: 12,337,314	T1235S	possibly damaging	Het
Thsd7a	T	A	6: 12,504,013	I381F	possibly damaging	Het
Tmc4	T	C	7: 3,671,271		probably null	Het
Tmprss11d	T	C	5: 86,309,401	D133G	probably damaging	Het
Trav13n-3	T	A	14: 53,337,496	V65D	probably damaging	Het
Trpm1	G	T	7: 64,203,034	L65F	probably damaging	Het
Tyk2	C	T	9: 21,114,207	A741T	probably damaging	Het
Ube2v1	T	A	2: 167,610,377	Y102F	probably damaging	Het
Uhrf1bp1	G	T	17: 27,893,503	W1222L	possibly damaging	Het
Vcan	C	A	13: 89,679,934	W2171L	probably damaging	Het
Vmn1r64	T	C	7: 5,884,358	N62S	probably damaging	Het
Vmn2r67	T	C	7: 85,150,623	D469G	probably benign	Het
Vps13b	A	G	15: 35,640,544	S1352G	probably benign	Het
Zbtb38	C	T	9: 96,688,383	R216H	probably damaging	Het

Other mutations in Uckl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Uckl1	APN	2	181569617	missense	probably benign	0.09
IGL01128:Uckl1	APN	2	181570337	missense	probably damaging	1.00
IGL01325:Uckl1	APN	2	181574961	nonsense	probably null
IGL01767:Uckl1	APN	2	181569534	missense	probably damaging	1.00
IGL02260:Uckl1	APN	2	181569588	missense	probably damaging	1.00
IGL02390:Uckl1	APN	2	181574419	missense	possibly damaging	0.59
IGL03369:Uckl1	APN	2	181570189	missense	probably benign	0.00
R0001:Uckl1	UTSW	2	181574655	missense	probably damaging	1.00
R0528:Uckl1	UTSW	2	181570490	splice site	probably benign
R1037:Uckl1	UTSW	2	181572485	missense	possibly damaging	0.67
R1355:Uckl1	UTSW	2	181573376	missense	probably damaging	1.00
R1416:Uckl1	UTSW	2	181569569	missense	possibly damaging	0.79
R1435:Uckl1	UTSW	2	181573133	missense	probably benign	0.01
R1676:Uckl1	UTSW	2	181574918	missense	probably damaging	1.00
R1723:Uckl1	UTSW	2	181570600	critical splice acceptor site	probably null
R1954:Uckl1	UTSW	2	181570527	missense	probably benign	0.17
R1955:Uckl1	UTSW	2	181570527	missense	probably benign	0.17
R3972:Uckl1	UTSW	2	181574463	missense	probably damaging	0.98
R4664:Uckl1	UTSW	2	181574868	missense	possibly damaging	0.91
R5306:Uckl1	UTSW	2	181574367	critical splice donor site	probably null
R5751:Uckl1	UTSW	2	181574452	missense	possibly damaging	0.81
R5758:Uckl1	UTSW	2	181569953	missense	probably damaging	1.00
R6174:Uckl1	UTSW	2	181573073	critical splice donor site	probably null
R6662:Uckl1	UTSW	2	181573260	missense	possibly damaging	0.87
R6865:Uckl1	UTSW	2	181574493	missense	probably damaging	1.00
R7051:Uckl1	UTSW	2	181574244	missense	probably damaging	1.00
R7643:Uckl1	UTSW	2	181573106	missense	probably benign	0.08
R7818:Uckl1	UTSW	2	181574667	missense	probably damaging	0.97
R8094:Uckl1	UTSW	2	181573256	missense	probably damaging	1.00
R8341:Uckl1	UTSW	2	181569719	missense	probably benign	0.00
R8515:Uckl1	UTSW	2	181574487	missense	probably damaging	1.00
R8980:Uckl1	UTSW	2	181574364	unclassified	probably benign
R9108:Uckl1	UTSW	2	181569500	missense	probably damaging	0.97
R9377:Uckl1	UTSW	2	181569739	missense	probably damaging	1.00
RF014:Uckl1	UTSW	2	181570194	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCCATGGACAACAGGACC -3'
(R):5'- CTGAGGCTAAGCACATTCCTC -3'

Sequencing Primer
(F):5'- CCACCCAGGGCACATCTAG -3'
(R):5'- CTCTTTACAGCAGCAATGCAGGG -3'

Posted On

2015-10-08