Mutagenetix > Incidental Mutation

Incidental Mutation 'R7379:Ctu1'

572579

Institutional Source

Beutler Lab

Gene Symbol

Ctu1

Ensembl Gene

ENSMUSG00000038888

Gene Name

cytosolic thiouridylase subunit 1

Synonyms

Atpbd3

MMRRC Submission

045461-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R7379 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

43321440-43327722 bp(+) (GRCm39)

Type of Mutation

small deletion (19 aa in frame mutation)

DNA Base Change (assembly)

AGGACCGGGCAGGAGCCACCTGTGTATCGCAGAGGGACCTGAGCCTTGGGAATGGAGGGGACCGGGCAGGAGCCACCTGTGTATCGCAG to AGGACCGGGCAGGAGCCACCTGTGTATCGCAG at 43326490 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	G	A	17: 66,292,242 (GRCm39)	R1064*	probably null	Het
Ccdc149	A	G	5: 52,562,408 (GRCm39)	I206T	probably damaging	Het
Cyp2j6	T	C	4: 96,414,183 (GRCm39)	T361A	probably damaging	Het
Cyp4a14	A	T	4: 115,350,907 (GRCm39)		probably null	Het
Cyp7b1	A	G	3: 18,151,538 (GRCm39)	V225A	probably benign	Het
Esf1	A	G	2: 139,996,854 (GRCm39)	I503T	probably benign	Het
Flrt2	G	A	12: 95,747,329 (GRCm39)	V556I	possibly damaging	Het
Gaa	T	C	11: 119,174,525 (GRCm39)	S791P	probably benign	Het
H2-T22	A	G	17: 36,353,232 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,672 (GRCm39)	S342P	probably damaging	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ift57	A	G	16: 49,581,357 (GRCm39)	E341G	probably damaging	Het
Itpkc	A	T	7: 26,927,194 (GRCm39)	I240K	probably benign	Het
Kit	A	T	5: 75,808,412 (GRCm39)	S719C	probably damaging	Het
Klf1	T	A	8: 85,629,846 (GRCm39)	Y224N	possibly damaging	Het
Krt77	T	C	15: 101,769,709 (GRCm39)	E387G	probably damaging	Het
L3mbtl1	T	A	2: 162,802,899 (GRCm39)	D347E	probably damaging	Het
Map1s	A	G	8: 71,366,219 (GRCm39)	T375A	possibly damaging	Het
Mturn	A	G	6: 54,666,069 (GRCm39)	T81A	possibly damaging	Het
Mug2	A	G	6: 122,024,446 (GRCm39)	E506G	possibly damaging	Het
Notch1	A	G	2: 26,369,479 (GRCm39)	F512S	probably damaging	Het
Or10g1	T	C	14: 52,647,718 (GRCm39)	T204A	probably benign	Het
Or12e13	T	A	2: 87,664,123 (GRCm39)	C247S	probably damaging	Het
Or4c12b	T	A	2: 89,647,033 (GRCm39)	V115E	probably benign	Het
Or9s14	G	T	1: 92,536,189 (GRCm39)	C210F	possibly damaging	Het
Pcdhga10	A	G	18: 37,880,619 (GRCm39)	N127D	probably damaging	Het
Plb1	A	G	5: 32,502,983 (GRCm39)	I1148V	probably damaging	Het
Plcb1	A	G	2: 135,212,430 (GRCm39)	D1007G	probably benign	Het
Prdm16	T	A	4: 154,613,316 (GRCm39)	E37V	probably damaging	Het
Prss45	C	A	9: 110,668,261 (GRCm39)	N151K	possibly damaging	Het
Rngtt	A	T	4: 33,498,981 (GRCm39)	K513*	probably null	Het
Serpinb10	T	C	1: 107,460,117 (GRCm39)		probably benign	Het
Shc1	T	C	3: 89,334,129 (GRCm39)	V402A	probably benign	Het
Slc25a38	T	A	9: 119,949,902 (GRCm39)	L227Q	probably benign	Het
Slc6a13	A	T	6: 121,313,798 (GRCm39)	K514*	probably null	Het
Sorcs3	T	C	19: 48,760,705 (GRCm39)	V911A	possibly damaging	Het
Sptb	A	T	12: 76,657,651 (GRCm39)	I1290N	probably damaging	Het
Sptbn1	T	C	11: 30,089,292 (GRCm39)	K657E	possibly damaging	Het
Stpg4	T	A	17: 87,735,068 (GRCm39)		probably null	Het
Stx2	A	G	5: 129,064,863 (GRCm39)	V278A	possibly damaging	Het
Thoc1	A	T	18: 9,992,902 (GRCm39)	N558I	probably benign	Het
Trpm2	T	C	10: 77,750,568 (GRCm39)	T1343A	probably benign	Het
Usf3	T	A	16: 44,040,939 (GRCm39)	D1806E	probably benign	Het
Vmn2r106	C	T	17: 20,488,037 (GRCm39)	M787I	possibly damaging	Het
Wdfy4	A	G	14: 32,873,566 (GRCm39)	S248P		Het
Zeb2	G	T	2: 44,891,829 (GRCm39)		probably null	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
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'- TGCAAGTTGAGCCTCCACAG -3'
(R):5'- GAAACAGGTCAGTCCCAAGGTG -3'

Sequencing Primer
(F):5'- TTGAGCCTCCACAGCCTGG -3'
(R):5'- ATTACTCCACAGTTGCAGGG -3'

Posted On

2019-09-13