Mutagenetix > Incidental Mutation

Incidental Mutation 'R1517:Uck2'

167074

Institutional Source

Beutler Lab

Gene Symbol

Uck2

Ensembl Gene

ENSMUSG00000026558

Gene Name

uridine-cytidine kinase 2

Synonyms

TSA903, Umpk

MMRRC Submission

039563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R1517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

167050464-167112657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 167062293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 156 (D156G)

Ref Sequence

ENSEMBL: ENSMUSP00000060202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027839] [ENSMUST00000053686] [ENSMUST00000191745] [ENSMUST00000192702]

AlphaFold

Q99PM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027839
AA Change: D145G

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

SMART Domains

Protein: ENSMUSP00000027839
Gene: ENSMUSG00000026558
AA Change: D145G

Domain	Start	End	E-Value	Type
Pfam:CoaE	21	195	3.5e-9	PFAM
Pfam:PRK	22	217	5.4e-56	PFAM
Pfam:AAA_18	23	187	8.8e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053686
AA Change: D156G

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

SMART Domains

Protein: ENSMUSP00000060202
Gene: ENSMUSG00000026558
AA Change: D156G

Domain	Start	End	E-Value	Type
Pfam:CoaE	21	195	3.5e-9	PFAM
Pfam:PRK	22	217	5.4e-56	PFAM
Pfam:AAA_18	23	187	8.8e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191745

SMART Domains

Protein: ENSMUSP00000141787
Gene: ENSMUSG00000026558

Domain	Start	End	E-Value	Type
PDB:1UJ2\|B	1	33	1e-17	PDB
SCOP:d1esma_	12	33	6e-4	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000192269
AA Change: D143G

Predicted Effect

probably benign
Transcript: ENSMUST00000192702

SMART Domains

Protein: ENSMUSP00000141216
Gene: ENSMUSG00000026558

Domain	Start	End	E-Value	Type
Pfam:PRK	22	129	6.7e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193579

Predicted Effect

unknown
Transcript: ENSMUST00000195443
AA Change: D88G

Meta Mutation Damage Score

0.9670

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.9%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a pyrimidine ribonucleoside kinase. The encoded protein (EC 2.7.1.48) catalyzes phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP), respectively.[provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	C	11: 109,862,640 (GRCm39)	K375R	possibly damaging	Het
Adrb2	T	C	18: 62,311,871 (GRCm39)	N318S	probably damaging	Het
Akap5	A	C	12: 76,376,036 (GRCm39)	E489D	possibly damaging	Het
Aldh7a1	T	A	18: 56,665,133 (GRCm39)	I385F	probably damaging	Het
Astn1	T	A	1: 158,407,146 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,487,374 (GRCm39)	T1314S	probably damaging	Het
Bhmt2	C	A	13: 93,798,847 (GRCm39)	G325C	probably damaging	Het
Brpf1	T	A	6: 113,296,050 (GRCm39)	V781E	probably benign	Het
Cacna1c	T	A	6: 118,575,720 (GRCm39)	Y1860F	probably benign	Het
Ccdc7a	T	C	8: 129,788,162 (GRCm39)	T56A	probably damaging	Het
Cep78	A	G	19: 15,937,027 (GRCm39)	S560P	probably damaging	Het
Cnot1	G	A	8: 96,469,841 (GRCm39)	T1343I	probably benign	Het
Coq10b	T	C	1: 55,103,416 (GRCm39)	S65P	probably damaging	Het
Creld1	T	A	6: 113,466,745 (GRCm39)	C243S	probably damaging	Het
Cst12	A	T	2: 148,635,172 (GRCm39)	I121F	possibly damaging	Het
Cyp26a1	A	C	19: 37,687,308 (GRCm39)	E165A	probably benign	Het
Cyp2d12	T	G	15: 82,442,337 (GRCm39)	M273R	probably damaging	Het
Dnajb7	T	A	15: 81,291,657 (GRCm39)	S227C	probably damaging	Het
Evc	T	A	5: 37,476,379 (GRCm39)	Q390L	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,970 (GRCm39)	L351*	probably null	Het
Fga	T	C	3: 82,939,145 (GRCm39)	S507P	probably benign	Het
Gba1	A	T	3: 89,113,455 (GRCm39)	Y239F	probably damaging	Het
Golga2	C	A	2: 32,195,996 (GRCm39)	Y843*	probably null	Het
Gria4	C	A	9: 4,793,865 (GRCm39)	L64F	probably damaging	Het
Hectd3	A	G	4: 116,860,191 (GRCm39)	Y803C	probably damaging	Het
Hmcn1	T	C	1: 150,545,172 (GRCm39)	K2812E	probably damaging	Het
Il17b	T	G	18: 61,823,316 (GRCm39)	V50G	probably damaging	Het
Itga2b	A	T	11: 102,357,151 (GRCm39)	L243*	probably null	Het
Kank4	C	A	4: 98,667,266 (GRCm39)	V394L	possibly damaging	Het
Kat14	T	A	2: 144,215,711 (GRCm39)	D65E	probably benign	Het
Kcnh3	T	C	15: 99,136,090 (GRCm39)	Y696H	probably damaging	Het
Kctd19	C	A	8: 106,122,008 (GRCm39)	D180Y	probably damaging	Het
Klra8	A	C	6: 130,092,603 (GRCm39)	S233A	probably benign	Het
Masp2	A	T	4: 148,696,563 (GRCm39)	T387S	possibly damaging	Het
Midn	C	A	10: 79,989,957 (GRCm39)	T275N	probably damaging	Het
Mis18bp1	A	G	12: 65,180,587 (GRCm39)	F965L	probably benign	Het
Myo3a	G	T	2: 22,287,445 (GRCm39)	V186L	probably damaging	Het
Ncoa2	T	A	1: 13,235,281 (GRCm39)	N884I	probably benign	Het
Or10d4	T	C	9: 39,581,016 (GRCm39)	I221T	probably damaging	Het
Or13c25	A	T	4: 52,911,502 (GRCm39)	C97*	probably null	Het
Or8k35	T	A	2: 86,424,948 (GRCm39)	T75S	probably damaging	Het
Osr2	T	C	15: 35,300,813 (GRCm39)	V123A	probably benign	Het
P4ha2	A	G	11: 54,008,471 (GRCm39)	H226R	probably benign	Het
Pcdhb16	T	A	18: 37,611,151 (GRCm39)	V37E	probably benign	Het
Pcdhb18	T	A	18: 37,622,673 (GRCm39)	M1K	probably null	Het
Pcsk1	T	A	13: 75,246,166 (GRCm39)	Y181*	probably null	Het
Pros1	G	T	16: 62,705,875 (GRCm39)	C63F	probably damaging	Het
Ranbp3l	T	A	15: 9,065,081 (GRCm39)	C353*	probably null	Het
Rev3l	T	C	10: 39,714,439 (GRCm39)	Y2388H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rpl12-ps1	G	T	1: 36,997,458 (GRCm39)		noncoding transcript	Het
Rttn	T	C	18: 89,131,474 (GRCm39)	V1951A	probably benign	Het
Scn9a	G	A	2: 66,335,371 (GRCm39)		probably benign	Het
Sdk1	T	C	5: 142,113,591 (GRCm39)	F1546S	probably damaging	Het
Sh3glb2	C	T	2: 30,244,987 (GRCm39)	R71Q	probably damaging	Het
Slc30a6	T	C	17: 74,715,842 (GRCm39)	F101L	probably benign	Het
Snrpd1	T	C	18: 10,626,913 (GRCm39)	I60T	probably damaging	Het
Sox10	T	A	15: 79,043,378 (GRCm39)	E218D	probably benign	Het
Tekt3	C	A	11: 62,961,316 (GRCm39)	H162N	probably damaging	Het
Tnfsf13	T	C	11: 69,575,564 (GRCm39)	S246G	possibly damaging	Het
Trim10	T	A	17: 37,183,346 (GRCm39)	I214N	probably damaging	Het
Trp63	C	A	16: 25,708,003 (GRCm39)	D566E	probably damaging	Het
Zfp386	T	A	12: 116,023,225 (GRCm39)	S314R	possibly damaging	Het
Zfp467	C	T	6: 48,415,170 (GRCm39)	R494H	probably damaging	Het
Zfp735	A	T	11: 73,601,470 (GRCm39)	D138V	probably benign	Het
Zfyve26	T	C	12: 79,298,925 (GRCm39)	E445G	probably damaging	Het

Other mutations in Uck2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0112:Uck2	UTSW	1	167,055,340 (GRCm39)	missense	probably damaging	0.98
R0682:Uck2	UTSW	1	167,064,259 (GRCm39)	missense	probably damaging	1.00
R7202:Uck2	UTSW	1	167,054,084 (GRCm39)	missense	probably damaging	1.00
R7362:Uck2	UTSW	1	167,065,211 (GRCm39)	missense	possibly damaging	0.93
R8837:Uck2	UTSW	1	167,070,715 (GRCm39)	missense	probably benign
R8985:Uck2	UTSW	1	167,070,681 (GRCm39)	missense	probably benign
R9224:Uck2	UTSW	1	167,065,171 (GRCm39)	missense	probably damaging	0.98
T0722:Uck2	UTSW	1	167,062,280 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- GACCGAACAAGCCTTTCTTTGCC -3'
(R):5'- AGCAGATGCTCTGATCTTGCTGTG -3'

Sequencing Primer
(F):5'- CTGATATAACTGGGCTGAGTCAC -3'
(R):5'- AAAGAGGAGACGGTCACCAT -3'

Posted On

2014-04-13