Mutagenetix > Incidental Mutation

Incidental Mutation 'R9066:Ctu1'

689267

Institutional Source

Beutler Lab

Gene Symbol

Ctu1

Ensembl Gene

ENSMUSG00000038888

Gene Name

cytosolic thiouridylase subunit 1

Synonyms

Atpbd3

MMRRC Submission

068891-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R9066 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43321440-43327722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43326019 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 226 (H226R)

Ref Sequence

ENSEMBL: ENSMUSP00000036770 (fasta)

Gene Model

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

AlphaFold

Q99J10

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038332
AA Change: H226R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000036770
Gene: ENSMUSG00000038888
AA Change: H226R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,849,188 (GRCm39)	T1858A	probably damaging	Het
Atp1a1	A	G	3: 101,489,338 (GRCm39)	I758T	probably damaging	Het
Atp2c1	T	C	9: 105,330,845 (GRCm39)	E225G	probably damaging	Het
Clec7a	A	C	6: 129,444,491 (GRCm39)	S115A	probably benign	Het
Cnbd1	T	C	4: 19,098,181 (GRCm39)	T80A	probably benign	Het
Dctn4	T	C	18: 60,659,387 (GRCm39)	F29L	probably damaging	Het
Dnajb2	A	G	1: 75,217,874 (GRCm39)	T169A		Het
Efcab3	T	A	11: 104,631,688 (GRCm39)		probably benign	Het
Esf1	A	T	2: 139,990,693 (GRCm39)	M597K	probably benign	Het
Fzd7	C	T	1: 59,521,991 (GRCm39)		probably benign	Het
Gapvd1	C	A	2: 34,617,297 (GRCm39)	Q349H	probably damaging	Het
Garin5b	T	C	7: 4,773,518 (GRCm39)		probably benign	Het
Gata5	A	G	2: 179,968,761 (GRCm39)	F371S		Het
Gm572	A	T	4: 148,751,278 (GRCm39)	Q217L	possibly damaging	Het
Igkv14-130	T	A	6: 67,768,219 (GRCm39)	M26K	probably damaging	Het
Jchain	T	G	5: 88,675,638 (GRCm39)	M1L	probably benign	Het
Kcnj14	G	A	7: 45,469,073 (GRCm39)	T144M	probably damaging	Het
Kirrel2	C	A	7: 30,153,454 (GRCm39)	A302S	probably damaging	Het
Klhl29	C	T	12: 5,260,114 (GRCm39)	V35I	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lgi4	A	C	7: 30,759,446 (GRCm39)	M1L	probably benign	Het
Ncr1	A	G	7: 4,347,552 (GRCm39)	D276G	probably benign	Het
Nfatc3	T	A	8: 106,825,782 (GRCm39)	M619K	probably benign	Het
Nudcd1	A	T	15: 44,243,588 (GRCm39)	F441I	probably damaging	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or10a3n	A	T	7: 108,493,253 (GRCm39)	Y125*	probably null	Het
Or8b12	T	G	9: 37,657,871 (GRCm39)	V147G	possibly damaging	Het
Pop1	A	T	15: 34,516,060 (GRCm39)	Q586L	possibly damaging	Het
Prss3b	C	T	6: 41,008,640 (GRCm39)	G225R	probably benign	Het
Rcbtb1	T	G	14: 59,462,206 (GRCm39)	I279S	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Serpine3	A	G	14: 62,929,555 (GRCm39)	D401G	probably damaging	Het
Slc25a4	A	G	8: 46,662,115 (GRCm39)	V181A	probably damaging	Het
Slc26a2	T	G	18: 61,335,130 (GRCm39)	I108L	probably benign	Het
Slc27a5	A	C	7: 12,722,530 (GRCm39)	V648G	possibly damaging	Het
Slc2a7	T	C	4: 150,250,872 (GRCm39)	F431S	probably damaging	Het
Sox11	T	C	12: 27,391,422 (GRCm39)	H329R	possibly damaging	Het
Speg	G	A	1: 75,361,654 (GRCm39)	G223R	probably damaging	Het
Synpo2	G	A	3: 122,911,133 (GRCm39)	H171Y	possibly damaging	Het
Tle6	G	T	10: 81,430,212 (GRCm39)	N323K	possibly damaging	Het
Ugt3a1	A	T	15: 9,367,384 (GRCm39)	M376L	possibly damaging	Het
Unc13d	T	C	11: 115,957,561 (GRCm39)	K798R	probably benign	Het
Vasp	A	T	7: 18,998,433 (GRCm39)	H80Q	probably damaging	Het
Vmn2r28	T	C	7: 5,491,596 (GRCm39)	D217G	probably damaging	Het
Vps41	T	C	13: 19,008,018 (GRCm39)	S284P	probably damaging	Het
Zer1	A	C	2: 30,000,686 (GRCm39)	L245R	probably damaging	Het
Zfp516	G	T	18: 82,973,964 (GRCm39)	R54L	probably damaging	Het
Zfp868	T	C	8: 70,064,292 (GRCm39)	K348E	probably damaging	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
R2974:Ctu1	UTSW	7	43,325,074 (GRCm39)	splice site	probably benign
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
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'- AATCCTTCACCTGACCTGAGC -3'
(R):5'- AGGCTCAACTTGCAGCACAC -3'

Sequencing Primer
(F):5'- GAGCTCTTTCTCCCGCAG -3'
(R):5'- TCGGTTGAGGCCATCCAG -3'

Posted On

2021-11-19