Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02869:Ctu2'

362510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctu2

Ensembl Gene

ENSMUSG00000049482

Gene Name

cytosolic thiouridylase subunit 2

Synonyms

2310061F22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02869

Quality Score

Status

Chromosome

Chromosomal Location

123202882-123209831 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 123205530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014614] [ENSMUST00000067252] [ENSMUST00000116412] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000134127] [ENSMUST00000151855] [ENSMUST00000136253] [ENSMUST00000146634] [ENSMUST00000156333]

AlphaFold

Q3U308

Predicted Effect

probably benign
Transcript: ENSMUST00000014614

SMART Domains

Protein: ENSMUSP00000014614
Gene: ENSMUSG00000014470

Domain	Start	End	E-Value	Type
RING	33	72	3.29e-5	SMART
ZnF_C2H2	150	173	7.05e-1	SMART
ZnF_C2H2	180	208	9.56e1	SMART
low complexity region	222	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067252

SMART Domains

Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	29	46	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	121	143	N/A	INTRINSIC
low complexity region	156	169	N/A	INTRINSIC
transmembrane domain	211	233	N/A	INTRINSIC
transmembrane domain	248	270	N/A	INTRINSIC
transmembrane domain	316	333	N/A	INTRINSIC
low complexity region	353	368	N/A	INTRINSIC
low complexity region	396	408	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC
transmembrane domain	468	490	N/A	INTRINSIC
transmembrane domain	513	535	N/A	INTRINSIC
internal_repeat_1	541	658	5.31e-5	PROSPERO
transmembrane domain	685	707	N/A	INTRINSIC
low complexity region	738	753	N/A	INTRINSIC
transmembrane domain	817	839	N/A	INTRINSIC
transmembrane domain	844	866	N/A	INTRINSIC
low complexity region	940	952	N/A	INTRINSIC
transmembrane domain	979	1001	N/A	INTRINSIC
transmembrane domain	1005	1022	N/A	INTRINSIC
transmembrane domain	1035	1057	N/A	INTRINSIC
transmembrane domain	1154	1171	N/A	INTRINSIC
transmembrane domain	1178	1197	N/A	INTRINSIC
Pfam:PIEZO	1229	1458	1.1e-97	PFAM
low complexity region	1475	1486	N/A	INTRINSIC
internal_repeat_1	1646	1752	5.31e-5	PROSPERO
low complexity region	1905	1921	N/A	INTRINSIC
transmembrane domain	1976	1998	N/A	INTRINSIC
transmembrane domain	2018	2038	N/A	INTRINSIC
transmembrane domain	2045	2067	N/A	INTRINSIC
transmembrane domain	2077	2094	N/A	INTRINSIC
Pfam:Piezo_RRas_bdg	2126	2544	3.2e-157	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000116412

SMART Domains

Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
SCOP:d1sur__	47	153	1e-3	SMART
Pfam:CTU2	347	470	2.3e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123671

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126553

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128383

SMART Domains

Protein: ENSMUSP00000116194
Gene: ENSMUSG00000014444

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
transmembrane domain	31	53	N/A	INTRINSIC
transmembrane domain	75	97	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	169	188	N/A	INTRINSIC
transmembrane domain	195	217	N/A	INTRINSIC
transmembrane domain	247	269	N/A	INTRINSIC
low complexity region	300	315	N/A	INTRINSIC
transmembrane domain	379	401	N/A	INTRINSIC
transmembrane domain	406	428	N/A	INTRINSIC
low complexity region	502	514	N/A	INTRINSIC
transmembrane domain	541	563	N/A	INTRINSIC
transmembrane domain	567	584	N/A	INTRINSIC
transmembrane domain	597	619	N/A	INTRINSIC
transmembrane domain	716	733	N/A	INTRINSIC
transmembrane domain	740	759	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
transmembrane domain	803	820	N/A	INTRINSIC
low complexity region	848	859	N/A	INTRINSIC
coiled coil region	895	926	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000134127

SMART Domains

Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482

Domain	Start	End	E-Value	Type
low complexity region	11	23	N/A	INTRINSIC
SCOP:d1sur__	25	128	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151855

SMART Domains

Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
SCOP:d1sur__	47	153	9e-4	SMART
Pfam:DUF2392	277	377	1.7e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154099

Predicted Effect

probably benign
Transcript: ENSMUST00000212499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148780

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128472

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

probably benign
Transcript: ENSMUST00000136253

Predicted Effect

probably benign
Transcript: ENSMUST00000146634

SMART Domains

Protein: ENSMUSP00000119931
Gene: ENSMUSG00000049482

Domain	Start	End	E-Value	Type
low complexity region	11	24	N/A	INTRINSIC
low complexity region	78	87	N/A	INTRINSIC
low complexity region	96	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156333

SMART Domains

Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	29	46	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
transmembrane domain	121	143	N/A	INTRINSIC
low complexity region	157	170	N/A	INTRINSIC
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	249	271	N/A	INTRINSIC
transmembrane domain	317	334	N/A	INTRINSIC
low complexity region	354	369	N/A	INTRINSIC
low complexity region	397	409	N/A	INTRINSIC
transmembrane domain	434	456	N/A	INTRINSIC
transmembrane domain	469	491	N/A	INTRINSIC
transmembrane domain	514	536	N/A	INTRINSIC
internal_repeat_1	542	659	4.88e-5	PROSPERO
transmembrane domain	686	708	N/A	INTRINSIC
low complexity region	739	754	N/A	INTRINSIC
transmembrane domain	818	840	N/A	INTRINSIC
transmembrane domain	845	867	N/A	INTRINSIC
low complexity region	941	953	N/A	INTRINSIC
transmembrane domain	980	1002	N/A	INTRINSIC
transmembrane domain	1006	1023	N/A	INTRINSIC
transmembrane domain	1036	1058	N/A	INTRINSIC
transmembrane domain	1155	1172	N/A	INTRINSIC
transmembrane domain	1179	1198	N/A	INTRINSIC
Pfam:PIEZO	1230	1459	2.3e-94	PFAM
low complexity region	1476	1487	N/A	INTRINSIC
internal_repeat_1	1647	1753	4.88e-5	PROSPERO
low complexity region	1906	1922	N/A	INTRINSIC
transmembrane domain	1977	1999	N/A	INTRINSIC
transmembrane domain	2019	2039	N/A	INTRINSIC
transmembrane domain	2046	2068	N/A	INTRINSIC
transmembrane domain	2078	2095	N/A	INTRINSIC
Pfam:Piezo_RRas_bdg	2127	2545	8.7e-154	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	A	16: 4,685,323 (GRCm39)	S1142T	possibly damaging	Het
Aadacl4fm5	T	C	4: 144,512,938 (GRCm39)	I54V	probably benign	Het
Actr3b	T	G	5: 26,037,433 (GRCm39)	V215G	probably damaging	Het
Adam9	C	T	8: 25,460,634 (GRCm39)	V617M	probably damaging	Het
Adgrl2	G	T	3: 148,596,241 (GRCm39)	P32T	probably damaging	Het
Afg2a	G	T	3: 37,518,694 (GRCm39)	G743W	probably damaging	Het
Ago3	A	T	4: 126,261,580 (GRCm39)		probably benign	Het
Allc	A	C	12: 28,623,206 (GRCm39)	I20M	probably benign	Het
Asic3	G	A	5: 24,621,972 (GRCm39)	W361*	probably null	Het
Atf7ip	A	G	6: 136,583,577 (GRCm39)	K1203E	probably damaging	Het
Babam2	C	A	5: 32,162,116 (GRCm39)	H272Q	possibly damaging	Het
Baz2b	G	A	2: 59,807,872 (GRCm39)	T129I	probably benign	Het
C130073F10Rik	A	T	4: 101,747,590 (GRCm39)	Y146*	probably null	Het
Cd247	A	G	1: 165,684,986 (GRCm39)	E74G	probably damaging	Het
Cdh17	A	T	4: 11,814,908 (GRCm39)	Q778L	probably benign	Het
Ceacam1	T	C	7: 25,175,966 (GRCm39)	D76G	probably benign	Het
Cela3a	T	C	4: 137,131,145 (GRCm39)	K198E	probably benign	Het
Cemip2	T	A	19: 21,789,241 (GRCm39)	D558E	probably damaging	Het
Ces2a	T	A	8: 105,465,691 (GRCm39)	D281E	probably damaging	Het
Cetn2	A	T	X: 71,958,527 (GRCm39)	D116E	probably damaging	Het
Cracd	A	G	5: 77,006,890 (GRCm39)	K1084E	unknown	Het
Cybb	T	C	X: 9,308,828 (GRCm39)	N469D	probably benign	Het
Cygb	C	T	11: 116,540,749 (GRCm39)	R79Q	probably damaging	Het
Cyp2d10	C	T	15: 82,288,069 (GRCm39)	V186M	possibly damaging	Het
Defb29	T	A	2: 152,380,942 (GRCm39)		probably null	Het
Depdc7	T	G	2: 104,560,694 (GRCm39)	Q100P	probably damaging	Het
Dhx30	A	C	9: 109,926,251 (GRCm39)	I91R	probably damaging	Het
Dnm1l	T	A	16: 16,159,288 (GRCm39)	K105*	probably null	Het
Eddm13	T	C	7: 6,272,898 (GRCm39)		probably benign	Het
Efhc1	T	C	1: 21,037,567 (GRCm39)	I248T	probably damaging	Het
Elapor1	A	G	3: 108,380,182 (GRCm39)	I309T	probably benign	Het
Entpd2	A	G	2: 25,288,120 (GRCm39)	T115A	probably damaging	Het
Epb42	G	T	2: 120,856,227 (GRCm39)	A439E	probably benign	Het
Esm1	T	G	13: 113,346,618 (GRCm39)	L81R	probably damaging	Het
F8	T	C	X: 74,330,987 (GRCm39)	S968G	probably benign	Het
Fam234b	T	G	6: 135,202,201 (GRCm39)	Y308D	probably damaging	Het
Fbxo46	T	G	7: 18,871,139 (GRCm39)	V586G	probably damaging	Het
Foxp1	C	A	6: 98,907,044 (GRCm39)		probably benign	Het
Gm10754	A	T	10: 97,518,136 (GRCm39)		probably benign	Het
Gm12695	A	C	4: 96,650,370 (GRCm39)		probably benign	Het
Gm5468	T	C	15: 25,414,726 (GRCm39)		probably benign	Het
Grhl1	T	C	12: 24,631,490 (GRCm39)	S66P	probably damaging	Het
Gstt3	A	T	10: 75,612,576 (GRCm39)		probably null	Het
Gtf2i	A	G	5: 134,308,281 (GRCm39)		probably benign	Het
Gzmk	C	A	13: 113,308,560 (GRCm39)	G175C	probably damaging	Het
Helz2	T	C	2: 180,872,939 (GRCm39)		probably benign	Het
Ift20	T	C	11: 78,430,780 (GRCm39)		probably benign	Het
Intu	A	G	3: 40,642,216 (GRCm39)	D491G	probably damaging	Het
Itch	G	T	2: 155,015,853 (GRCm39)		probably null	Het
Itgb5	A	G	16: 33,665,362 (GRCm39)	N26S	possibly damaging	Het
Lama2	A	T	10: 26,891,534 (GRCm39)	S2526R	probably damaging	Het
Lat2	A	G	5: 134,637,027 (GRCm39)	I40T	probably damaging	Het
Lipa	T	A	19: 34,471,397 (GRCm39)	M393L	probably benign	Het
Lipa	G	T	19: 34,471,371 (GRCm39)		probably benign	Het
Lpcat1	T	A	13: 73,632,417 (GRCm39)	L10H	probably damaging	Het
Lpcat3	T	C	6: 124,679,970 (GRCm39)	Y348H	possibly damaging	Het
Lrp1b	A	T	2: 40,591,842 (GRCm39)	N50K	unknown	Het
Lrrk2	T	A	15: 91,634,480 (GRCm39)	Y1415N	probably damaging	Het
Lsamp	A	T	16: 41,965,078 (GRCm39)	T312S	probably benign	Het
Man2a2	T	C	7: 80,013,689 (GRCm39)	E454G	probably benign	Het
Mcm3	T	C	1: 20,879,063 (GRCm39)	K570R	probably damaging	Het
Mctp2	C	A	7: 71,878,219 (GRCm39)		probably null	Het
Msantd2	T	G	9: 37,434,796 (GRCm39)	C345W	probably damaging	Het
Musk	T	C	4: 58,354,078 (GRCm39)	I362T	probably benign	Het
Myh15	A	T	16: 48,965,767 (GRCm39)	N1224I	probably benign	Het
Myo18a	A	G	11: 77,755,612 (GRCm39)	Y1983C	probably damaging	Het
Myo18a	C	T	11: 77,720,699 (GRCm39)		probably benign	Het
Myrfl	G	T	10: 116,664,909 (GRCm39)	Q374K	probably damaging	Het
Ndrg1	T	A	15: 66,818,346 (GRCm39)	Q87H	probably benign	Het
Nol9	G	A	4: 152,131,030 (GRCm39)	C351Y	probably damaging	Het
Nr5a1	A	G	2: 38,598,141 (GRCm39)	S219P	probably benign	Het
Or8b43	T	C	9: 38,360,489 (GRCm39)	F107S	possibly damaging	Het
Or8g28	A	T	9: 39,169,520 (GRCm39)	Y149*	probably null	Het
Pcdhb19	A	G	18: 37,631,690 (GRCm39)	D495G	probably damaging	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Plec	A	T	15: 76,065,516 (GRCm39)	L1586Q	probably damaging	Het
Prelp	C	A	1: 133,843,005 (GRCm39)	E47*	probably null	Het
Rbm33	T	A	5: 28,615,753 (GRCm39)	I32N	probably damaging	Het
Rgs12	A	T	5: 35,183,227 (GRCm39)	D310V	probably damaging	Het
Ripor2	A	C	13: 24,880,512 (GRCm39)	H404P	possibly damaging	Het
Sh3d21	T	C	4: 126,056,034 (GRCm39)	E124G	probably benign	Het
Shroom2	C	T	X: 151,442,549 (GRCm39)	S872N	probably benign	Het
Slc44a5	A	G	3: 153,956,651 (GRCm39)	Y301C	probably damaging	Het
Smap1	A	T	1: 23,930,995 (GRCm39)	H66Q	possibly damaging	Het
Smyd1	G	T	6: 71,198,007 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,093,573 (GRCm39)		probably benign	Het
Srsf3-ps	T	A	11: 98,516,146 (GRCm39)	R76*	probably null	Het
Stag3	A	G	5: 138,280,955 (GRCm39)	K49R	probably damaging	Het
Stim1	C	A	7: 101,917,758 (GRCm39)	A46E	unknown	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tbc1d19	A	G	5: 53,992,559 (GRCm39)	T114A	probably benign	Het
Tln2	G	A	9: 67,128,807 (GRCm39)		probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Vwde	G	A	6: 13,187,136 (GRCm39)	H784Y	probably damaging	Het
Zfp773	T	C	7: 7,137,232 (GRCm39)	T121A	probably benign	Het

Other mutations in Ctu2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Ctu2	APN	8	123,203,977 (GRCm39)	unclassified	probably benign
IGL01764:Ctu2	APN	8	123,206,161 (GRCm39)	unclassified	probably benign
IGL02190:Ctu2	APN	8	123,208,397 (GRCm39)	utr 3 prime	probably benign
IGL03136:Ctu2	APN	8	123,205,940 (GRCm39)	unclassified	probably benign
IGL03139:Ctu2	APN	8	123,205,446 (GRCm39)	missense	possibly damaging	0.65
IGL03237:Ctu2	APN	8	123,205,792 (GRCm39)	missense	probably benign	0.00
PIT4354001:Ctu2	UTSW	8	123,205,714 (GRCm39)	missense	probably damaging	0.99
R0001:Ctu2	UTSW	8	123,205,659 (GRCm39)	missense	probably benign
R0359:Ctu2	UTSW	8	123,204,932 (GRCm39)	missense	probably damaging	0.99
R1078:Ctu2	UTSW	8	123,208,238 (GRCm39)	missense	possibly damaging	0.69
R1938:Ctu2	UTSW	8	123,206,024 (GRCm39)	missense	probably damaging	1.00
R2143:Ctu2	UTSW	8	123,205,891 (GRCm39)	missense	probably benign	0.16
R2145:Ctu2	UTSW	8	123,205,891 (GRCm39)	missense	probably benign	0.16
R2221:Ctu2	UTSW	8	123,207,649 (GRCm39)	missense	probably damaging	1.00
R4111:Ctu2	UTSW	8	123,203,256 (GRCm39)	missense	possibly damaging	0.64
R4284:Ctu2	UTSW	8	123,204,978 (GRCm39)	missense	probably benign	0.04
R4704:Ctu2	UTSW	8	123,206,042 (GRCm39)	missense	probably damaging	1.00
R4774:Ctu2	UTSW	8	123,207,851 (GRCm39)	missense	probably benign	0.17
R5254:Ctu2	UTSW	8	123,203,327 (GRCm39)	missense	probably damaging	1.00
R5804:Ctu2	UTSW	8	123,207,965 (GRCm39)	critical splice donor site	probably null
R5935:Ctu2	UTSW	8	123,203,693 (GRCm39)	unclassified	probably benign
R7378:Ctu2	UTSW	8	123,208,238 (GRCm39)	missense	probably damaging	0.99
R7911:Ctu2	UTSW	8	123,207,733 (GRCm39)	missense	probably benign	0.01
R8546:Ctu2	UTSW	8	123,206,102 (GRCm39)	missense	probably damaging	1.00
R8876:Ctu2	UTSW	8	123,206,951 (GRCm39)	missense
R9082:Ctu2	UTSW	8	123,203,952 (GRCm39)	missense	probably damaging	1.00
R9272:Ctu2	UTSW	8	123,206,045 (GRCm39)	missense	probably benign
R9796:Ctu2	UTSW	8	123,202,989 (GRCm39)	missense	probably benign	0.34

Posted On

2015-12-18