Mutagenetix > Incidental Mutation

Incidental Mutation 'R7072:Uck1'

548932

Institutional Source

Beutler Lab

Gene Symbol

Uck1

Ensembl Gene

ENSMUSG00000002550

Gene Name

uridine-cytidine kinase 1

Synonyms

URK1

MMRRC Submission

045168-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7072 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32145014-32150117 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 32148178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 182 (R182Q)

Ref Sequence

ENSEMBL: ENSMUSP00000002625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002625] [ENSMUST00000036473]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000002625
AA Change: R182Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: R182Q

Domain	Start	End	E-Value	Type
low complexity region	8	19	N/A	INTRINSIC
Pfam:CoaE	30	198	1.1e-8	PFAM
Pfam:AAA_17	31	188	3.8e-8	PFAM
Pfam:PRK	31	225	1.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036473

SMART Domains

Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254

Domain	Start	End	E-Value	Type
Pfam:PMT	42	289	2.8e-96	PFAM
MIR	318	381	7.45e-8	SMART
MIR	392	449	1.65e-9	SMART
MIR	456	513	6.2e-5	SMART
Pfam:PMT_4TMC	542	740	3.9e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138133
AA Change: R108Q

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

SMART Domains

Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550
AA Change: R108Q

Domain	Start	End	E-Value	Type
Pfam:PRK	1	151	1e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192998

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,967,592 (GRCm39)	L2214Q	probably damaging	Het
Acbd3	T	C	1: 180,553,934 (GRCm39)	F90L	probably benign	Het
Ahnak2	T	A	12: 112,751,786 (GRCm39)	Q23L		Het
Anpep	A	T	7: 79,485,127 (GRCm39)	L620I	possibly damaging	Het
Bpi	T	C	2: 158,113,998 (GRCm39)	S299P	probably damaging	Het
Bpifa2	A	G	2: 153,853,293 (GRCm39)	D132G	probably damaging	Het
Brd7	T	A	8: 89,073,615 (GRCm39)	E258D	probably benign	Het
Btc	T	C	5: 91,550,796 (GRCm39)		probably benign	Het
Cacna1c	A	G	6: 118,573,067 (GRCm39)	V2039A		Het
Calm4	T	A	13: 3,888,275 (GRCm39)	V127E	probably benign	Het
Casp8ap2	T	A	4: 32,644,766 (GRCm39)	S1280T	probably damaging	Het
Cc2d2b	T	C	19: 40,748,803 (GRCm39)	V80A	unknown	Het
Ccdc33	A	G	9: 58,019,267 (GRCm39)	*279R	probably null	Het
Cercam	T	A	2: 29,771,936 (GRCm39)	H585Q	probably benign	Het
Cnnm1	A	G	19: 43,429,296 (GRCm39)	D138G	probably benign	Het
Cox4i2	T	C	2: 152,602,573 (GRCm39)	F89S	probably damaging	Het
Crb1	G	A	1: 139,165,013 (GRCm39)	T1098I	probably damaging	Het
Csnk1e	C	T	15: 79,322,967 (GRCm39)		probably null	Het
Ctsj	C	A	13: 61,150,897 (GRCm39)	E187*	probably null	Het
Dagla	A	T	19: 10,233,659 (GRCm39)		probably null	Het
Dnah7a	G	A	1: 53,458,912 (GRCm39)	T3742I	probably benign	Het
Dnajc6	A	C	4: 101,472,812 (GRCm39)	H381P	probably damaging	Het
Dyrk3	A	T	1: 131,057,465 (GRCm39)	L236Q	probably damaging	Het
Edc4	T	A	8: 106,614,634 (GRCm39)	D105E	probably damaging	Het
Frmd5	A	T	2: 121,388,351 (GRCm39)	L241Q	probably damaging	Het
Gcc2	A	G	10: 58,106,749 (GRCm39)	T662A	probably benign	Het
Gins1	C	T	2: 150,751,671 (GRCm39)		probably null	Het
Gli3	T	A	13: 15,900,280 (GRCm39)	N1222K	possibly damaging	Het
Gm4302	G	T	10: 100,177,521 (GRCm39)	Q268H	unknown	Het
Grin2d	A	T	7: 45,506,922 (GRCm39)	W518R	probably damaging	Het
Grm5	A	T	7: 87,723,512 (GRCm39)	I601F	probably damaging	Het
Gtpbp10	A	T	5: 5,596,365 (GRCm39)	N193K	probably benign	Het
Igdcc4	T	G	9: 65,038,013 (GRCm39)	V798G	probably damaging	Het
Igkv8-19	A	T	6: 70,318,396 (GRCm39)	F13I	probably benign	Het
Kctd11	T	A	11: 69,770,621 (GRCm39)	N139I	probably benign	Het
Lmo7	G	A	14: 102,136,136 (GRCm39)		probably null	Het
Lrrk2	A	T	15: 91,686,123 (GRCm39)	M2155L	probably benign	Het
Ly6g6g	C	T	15: 74,644,119 (GRCm39)	V66M		Het
Mettl24	A	C	10: 40,559,509 (GRCm39)	H53P	probably benign	Het
Mier2	A	G	10: 79,376,133 (GRCm39)	M264T	unknown	Het
Mplkip	T	C	13: 17,870,122 (GRCm39)	I18T	unknown	Het
Mtmr2	T	C	9: 13,699,916 (GRCm39)	V101A	probably benign	Het
Nbeal2	G	T	9: 110,455,119 (GRCm39)	T2593K	probably benign	Het
Neu3	A	T	7: 99,463,404 (GRCm39)	C106*	probably null	Het
Nutm1	T	C	2: 112,082,192 (GRCm39)	T295A	probably benign	Het
Or2h2b-ps1	A	G	17: 37,481,269 (GRCm39)	I90T	probably benign	Het
Pcdhga7	G	T	18: 37,850,329 (GRCm39)	V779L	probably benign	Het
Pde10a	A	G	17: 9,161,858 (GRCm39)	E231G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plcg2	T	A	8: 118,316,574 (GRCm39)		probably null	Het
Pofut2	T	C	10: 77,095,263 (GRCm39)	L36P	probably benign	Het
Pou6f2	T	C	13: 18,299,754 (GRCm39)	N635S		Het
Pramel14	A	C	4: 143,720,698 (GRCm39)	I81R	probably damaging	Het
Ptpra	T	C	2: 130,395,350 (GRCm39)	Y818H	probably damaging	Het
Rad18	T	C	6: 112,658,401 (GRCm39)	E168G	probably benign	Het
Rev1	C	A	1: 38,106,626 (GRCm39)	E634*	probably null	Het
Sec24d	A	G	3: 123,124,000 (GRCm39)	D403G	probably damaging	Het
Sema5a	C	A	15: 32,575,105 (GRCm39)	H404Q	possibly damaging	Het
Shank1	A	G	7: 43,994,370 (GRCm39)	S844G	unknown	Het
Slc32a1	T	A	2: 158,453,416 (GRCm39)	Y85*	probably null	Het
Slc39a4	T	C	15: 76,497,458 (GRCm39)	T485A	probably damaging	Het
Sp5	A	C	2: 70,307,074 (GRCm39)	Q253P	probably benign	Het
Sspo	A	T	6: 48,431,913 (GRCm39)	D709V	probably damaging	Het
Sucnr1	A	G	3: 59,993,604 (GRCm39)	Y44C	probably damaging	Het
Taar8b	A	G	10: 23,967,876 (GRCm39)	L106P	possibly damaging	Het
Tbc1d9	A	G	8: 83,991,494 (GRCm39)	D922G	probably damaging	Het
Tbx6	A	T	7: 126,383,912 (GRCm39)	D322V	probably benign	Het
Tex15	T	A	8: 34,065,459 (GRCm39)	S1630T	possibly damaging	Het
Ube2o	G	A	11: 116,432,327 (GRCm39)	P880S	probably benign	Het
Utrn	T	A	10: 12,340,957 (GRCm39)	H2840L	probably damaging	Het
Vps8	A	G	16: 21,400,329 (GRCm39)	T1266A	probably benign	Het
Wnk1	A	T	6: 119,914,822 (GRCm39)	I1909N	unknown	Het
Zfp352	C	T	4: 90,112,661 (GRCm39)	T267I	probably benign	Het
Zfp773	A	T	7: 7,135,874 (GRCm39)	C241S	probably benign	Het
Zfp934	T	C	13: 62,668,339 (GRCm39)	D8G	probably damaging	Het

Other mutations in Uck1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00087:Uck1	APN	2	32,149,681 (GRCm39)	missense	probably damaging	1.00
IGL01765:Uck1	APN	2	32,148,688 (GRCm39)	unclassified	probably benign
IGL02028:Uck1	APN	2	32,148,149 (GRCm39)	missense	probably damaging	1.00
IGL02863:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
IGL03114:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
IGL03159:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
IGL03325:Uck1	APN	2	32,148,334 (GRCm39)	missense	probably benign	0.04
PIT4378001:Uck1	UTSW	2	32,146,046 (GRCm39)	missense	probably damaging	1.00
R1019:Uck1	UTSW	2	32,146,205 (GRCm39)	missense	possibly damaging	0.88
R1332:Uck1	UTSW	2	32,149,666 (GRCm39)	missense	probably damaging	1.00
R1336:Uck1	UTSW	2	32,149,666 (GRCm39)	missense	probably damaging	1.00
R1428:Uck1	UTSW	2	32,148,367 (GRCm39)	missense	probably damaging	1.00
R2173:Uck1	UTSW	2	32,146,088 (GRCm39)	unclassified	probably benign
R2233:Uck1	UTSW	2	32,148,315 (GRCm39)	missense	probably damaging	1.00
R2234:Uck1	UTSW	2	32,148,315 (GRCm39)	missense	probably damaging	1.00
R2938:Uck1	UTSW	2	32,146,088 (GRCm39)	unclassified	probably benign
R3079:Uck1	UTSW	2	32,148,089 (GRCm39)	unclassified	probably benign
R4667:Uck1	UTSW	2	32,146,046 (GRCm39)	missense	probably damaging	1.00
R5036:Uck1	UTSW	2	32,148,478 (GRCm39)	unclassified	probably benign
R6463:Uck1	UTSW	2	32,148,667 (GRCm39)	missense	probably benign	0.00
R7690:Uck1	UTSW	2	32,148,184 (GRCm39)	missense	probably benign	0.03
R8021:Uck1	UTSW	2	32,149,929 (GRCm39)	missense	probably benign	0.17
R8415:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8416:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8437:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8438:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8440:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8442:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8530:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8537:Uck1	UTSW	2	32,150,153 (GRCm39)	unclassified	probably benign
R8749:Uck1	UTSW	2	32,146,524 (GRCm39)	missense
R9494:Uck1	UTSW	2	32,148,179 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTAGCCTGAGACACACTGG -3'
(R):5'- CTACCCAGCTGATGTGGTTCTG -3'

Sequencing Primer
(F):5'- GCCTGAGACACACTGGCAAAC -3'
(R):5'- TGGTATTCTACACCCAGGAGATC -3'

Posted On

2019-05-15