Mutagenetix > Incidental Mutation

Incidental Mutation 'R9430:Ctu1'

712879

Institutional Source

Beutler Lab

Gene Symbol

Ctu1

Ensembl Gene

ENSMUSG00000038888

Gene Name

cytosolic thiouridylase subunit 1

Synonyms

Atpbd3

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R9430 (G1)

Quality Score

160.009

Status

Not validated

Chromosome

Chromosomal Location

43321440-43327722 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43326042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 234 (S234P)

Ref Sequence

ENSEMBL: ENSMUSP00000036770 (fasta)

Gene Model

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

AlphaFold

Q99J10

Predicted Effect

probably damaging
Transcript: ENSMUST00000038332
AA Change: S234P

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

SMART Domains

Protein: ENSMUSP00000036770
Gene: ENSMUSG00000038888
AA Change: S234P

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: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Als2	A	C	1: 59,231,198 (GRCm39)	N804K	probably benign	Het
Arid5b	C	A	10: 68,022,087 (GRCm39)		probably null	Het
Brd2	T	C	17: 34,331,610 (GRCm39)	D779G	unknown	Het
Brox	A	T	1: 183,069,353 (GRCm39)	V118E	probably damaging	Het
Ccdc137	A	T	11: 120,349,530 (GRCm39)	E76V	probably damaging	Het
Ccdc150	A	G	1: 54,320,930 (GRCm39)	K327E	probably damaging	Het
Ccdc171	A	G	4: 83,522,362 (GRCm39)	E342G	probably damaging	Het
Cd109	G	A	9: 78,574,698 (GRCm39)		probably null	Het
Cep85	C	A	4: 133,894,665 (GRCm39)	R47L	probably damaging	Het
Cgrrf1	T	A	14: 47,091,331 (GRCm39)	V285E	probably damaging	Het
Dnah3	G	A	7: 119,628,205 (GRCm39)	T1484I	probably damaging	Het
Dusp16	G	T	6: 134,737,829 (GRCm39)	Q70K	probably damaging	Het
Eri3	T	G	4: 117,439,868 (GRCm39)	Y187*	probably null	Het
Evi2a	T	A	11: 79,418,523 (GRCm39)	Y29F	possibly damaging	Het
Ext2	A	G	2: 93,592,999 (GRCm39)	S402P	possibly damaging	Het
Fam76a	T	A	4: 132,645,055 (GRCm39)	Q60L	probably damaging	Het
Fat3	T	C	9: 16,287,381 (GRCm39)	N714S	probably damaging	Het
Fbxw24	T	A	9: 109,439,038 (GRCm39)	N179I	probably damaging	Het
Fras1	A	G	5: 96,929,251 (GRCm39)	N3885S	probably benign	Het
Grip2	A	T	6: 91,784,265 (GRCm39)	V12E	probably benign	Het
Gse1	A	T	8: 121,299,049 (GRCm39)	Y766F	unknown	Het
Herc1	C	T	9: 66,325,785 (GRCm39)	Q1420*	probably null	Het
Htr1f	T	A	16: 64,746,831 (GRCm39)	I154F	probably damaging	Het
Hus1b	G	T	13: 31,131,587 (GRCm39)	A24E	probably damaging	Het
Igkv17-127	A	G	6: 67,838,441 (GRCm39)	I51V	probably damaging	Het
Ilk	G	T	7: 105,390,072 (GRCm39)	R149L	probably benign	Het
Inpp5b	T	A	4: 124,636,340 (GRCm39)	V5E	possibly damaging	Het
Jak2	A	T	19: 29,265,367 (GRCm39)	S465C	possibly damaging	Het
Kif23	T	C	9: 61,834,722 (GRCm39)	T394A	probably damaging	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,921,802 (GRCm39)	D441G	probably null	Het
Ldhd	A	G	8: 112,356,680 (GRCm39)	L27P	possibly damaging	Het
Lingo1	A	G	9: 56,527,512 (GRCm39)	I365T	probably benign	Het
Lyz2	C	A	10: 117,118,077 (GRCm39)	C24F	possibly damaging	Het
Map1b	T	A	13: 99,570,616 (GRCm39)	T702S	unknown	Het
Map4	T	A	9: 109,863,760 (GRCm39)	D328E	probably benign	Het
Matn1	C	T	4: 130,673,278 (GRCm39)	T82M	probably damaging	Het
Mfrp	T	C	9: 44,014,570 (GRCm39)	V239A	probably damaging	Het
Misp	G	T	10: 79,661,675 (GRCm39)	V31F	probably benign	Het
Muc5ac	C	T	7: 141,362,569 (GRCm39)	T1960I	unknown	Het
Myh2	T	A	11: 67,070,359 (GRCm39)	M434K	probably benign	Het
Myh3	T	A	11: 66,982,726 (GRCm39)	I815N	possibly damaging	Het
Myo18a	A	G	11: 77,709,410 (GRCm39)	M507V	possibly damaging	Het
Nbas	T	A	12: 13,371,654 (GRCm39)	S385T	probably benign	Het
Nepro	G	A	16: 44,552,460 (GRCm39)	R319K	possibly damaging	Het
Nlrc3	A	T	16: 3,783,396 (GRCm39)	C53S	probably benign	Het
Nudt17	A	G	3: 96,614,224 (GRCm39)		probably null	Het
Nwd2	T	G	5: 63,964,665 (GRCm39)	C1416W	probably damaging	Het
Ocln	A	C	13: 100,676,356 (GRCm39)	F46V	possibly damaging	Het
Or52n3	A	T	7: 104,530,204 (GRCm39)	N97Y	possibly damaging	Het
Or5be3	A	T	2: 86,864,253 (GRCm39)	V104D	probably damaging	Het
Osbpl5	T	C	7: 143,263,526 (GRCm39)	K119R	probably benign	Het
Paf1	T	G	7: 28,096,331 (GRCm39)	F315V	possibly damaging	Het
Parp4	T	A	14: 56,866,673 (GRCm39)	V1079D	probably damaging	Het
Pcgf6	C	T	19: 47,039,219 (GRCm39)	A14T	unknown	Het
Plcxd1	A	G	5: 110,251,368 (GRCm39)	T315A	probably benign	Het
Plxnc1	A	G	10: 94,758,544 (GRCm39)	V384A	probably benign	Het
Polm	G	A	11: 5,784,749 (GRCm39)	T236I	probably damaging	Het
Prl7d1	T	C	13: 27,898,360 (GRCm39)	T50A	possibly damaging	Het
Reln	T	C	5: 22,120,105 (GRCm39)	D2849G	probably damaging	Het
Sec16b	C	T	1: 157,394,894 (GRCm39)	R1045C	probably damaging	Het
Six4	A	G	12: 73,150,719 (GRCm39)	S609P	possibly damaging	Het
Slc25a31	A	T	3: 40,679,297 (GRCm39)		probably null	Het
Slc4a2	A	G	5: 24,636,317 (GRCm39)	N230S	probably benign	Het
Sorcs1	T	C	19: 50,199,208 (GRCm39)	Y785C	probably damaging	Het
Styxl1	A	G	5: 135,784,259 (GRCm39)		probably null	Het
Synm	C	T	7: 67,383,181 (GRCm39)	V1494M	possibly damaging	Het
Taf7l2	A	T	10: 115,949,282 (GRCm39)	D81E	probably damaging	Het
Tamm41	A	G	6: 114,993,063 (GRCm39)	M230T	probably benign	Het
Tbc1d12	T	G	19: 38,884,490 (GRCm39)	M347R	probably damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Tm4sf1	A	C	3: 57,197,214 (GRCm39)	S164A	probably damaging	Het
Trim67	A	G	8: 125,552,956 (GRCm39)	H686R	probably damaging	Het
Trpm1	T	C	7: 63,873,446 (GRCm39)	L567P	probably benign	Het
Tsfm	A	G	10: 126,858,771 (GRCm39)	L198P	probably damaging	Het
Ttc6	A	T	12: 57,733,193 (GRCm39)	D1112V	probably damaging	Het
Ttn	A	G	2: 76,601,922 (GRCm39)	V18580A	probably benign	Het
Ubr1	C	A	2: 120,734,506 (GRCm39)	Q1131H	possibly damaging	Het
Uhrf2	C	T	19: 30,016,659 (GRCm39)	R117C	probably benign	Het
Vmn2r70	A	G	7: 85,215,240 (GRCm39)	V98A	probably benign	Het
Zfp799	T	C	17: 33,039,186 (GRCm39)	E360G	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
R9066:Ctu1	UTSW	7	43,326,019 (GRCm39)	missense	possibly damaging	0.54
R9522:Ctu1	UTSW	7	43,324,900 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- GACGGTGCTCATGAACTTCC -3'
(R):5'- AGGCTCAACTTGCAGCACAC -3'

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

Posted On

2022-05-16