Mutagenetix > Incidental Mutation

Incidental Mutation 'R2974:Ctu1'

255319

Institutional Source

Beutler Lab

Gene Symbol

Ctu1

Ensembl Gene

ENSMUSG00000038888

Gene Name

cytosolic thiouridylase subunit 1

Synonyms

Atpbd3

MMRRC Submission

040527-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R2974 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43321440-43327722 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 43325074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038332]

AlphaFold

Q99J10

Predicted Effect

probably benign
Transcript: ENSMUST00000038332

SMART Domains

Protein: ENSMUSP00000036770
Gene: ENSMUSG00000038888

Domain	Start	End	E-Value	Type
Pfam:ATP_bind_3	53	250	2.9e-19	PFAM
low complexity region	273	284	N/A	INTRINSIC
Pfam:zn-ribbon_14	285	316	6e-16	PFAM
internal_repeat_1	349	379	7.14e-12	PROSPERO
internal_repeat_1	389	417	7.14e-12	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206372

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

97% (38/39)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,844,801 (GRCm39)	F1508V	probably damaging	Het
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Cop1	A	G	1: 159,152,499 (GRCm39)	H583R	possibly damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Depdc5	T	C	5: 33,091,361 (GRCm39)		probably null	Het
Dnah14	A	T	1: 181,582,806 (GRCm39)		probably null	Het
Dpp10	A	G	1: 123,339,434 (GRCm39)		probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Gse1	C	A	8: 121,297,636 (GRCm39)		probably benign	Het
Med15	T	C	16: 17,470,575 (GRCm39)	Y744C	probably damaging	Het
Nlrp4d	A	G	7: 10,112,367 (GRCm39)		probably benign	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or4p21	A	T	2: 88,276,918 (GRCm39)	C121*	probably null	Het
Or8g30	T	C	9: 39,230,292 (GRCm39)	N206S	probably damaging	Het
Phax	T	A	18: 56,706,134 (GRCm39)	M8K	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Rgs3	A	T	4: 62,558,957 (GRCm39)	T476S	probably damaging	Het
Rogdi	G	T	16: 4,829,526 (GRCm39)	Q90K	probably damaging	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Simc1	A	G	13: 54,698,274 (GRCm39)	D397G	probably damaging	Het
Slc25a27	T	C	17: 43,964,262 (GRCm39)	N203D	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tnip1	C	T	11: 54,824,809 (GRCm39)		probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ube2d2a	T	A	18: 35,933,225 (GRCm39)	D87E	possibly damaging	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	probably benign	Het

Other mutations in Ctu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ctu1	APN	7	43,324,928 (GRCm39)	missense	possibly damaging	0.93
waverer	UTSW	7	43,326,046 (GRCm39)	missense	probably damaging	0.96
R0557:Ctu1	UTSW	7	43,326,583 (GRCm39)	missense	unknown
R3805:Ctu1	UTSW	7	43,326,097 (GRCm39)	missense	probably damaging	1.00
R3807:Ctu1	UTSW	7	43,326,097 (GRCm39)	missense	probably damaging	1.00
R6863:Ctu1	UTSW	7	43,326,046 (GRCm39)	missense	probably damaging	0.96
R6999:Ctu1	UTSW	7	43,324,662 (GRCm39)	missense	probably damaging	0.99
R7379:Ctu1	UTSW	7	43,326,490 (GRCm39)	small deletion	probably benign
R7395:Ctu1	UTSW	7	43,326,019 (GRCm39)	missense	possibly damaging	0.54
R8870:Ctu1	UTSW	7	43,324,746 (GRCm39)	missense	probably damaging	1.00
R9066:Ctu1	UTSW	7	43,326,019 (GRCm39)	missense	possibly damaging	0.54
R9430:Ctu1	UTSW	7	43,326,042 (GRCm39)	missense	probably damaging	1.00
R9522:Ctu1	UTSW	7	43,324,900 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TACATACAGTGCTTGCCGG -3'
(R):5'- ATGAGAGGACCCGGTAGATC -3'

Sequencing Primer
(F):5'- TGGCAAGGACTCCACAGTG -3'
(R):5'- TCTCAGCACCATAAAGGG -3'

Posted On

2014-12-29