Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03136:Ctu2'

410554

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 #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

123202882-123209831 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 123205940 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

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 benign
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 benign
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: ENSMUST00000128472

Predicted Effect

probably benign
Transcript: ENSMUST00000212499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148780

Predicted Effect

probably benign
Transcript: ENSMUST00000136253

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

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,719,122 (GRCm39)	L7S	unknown	Het
Abr	C	T	11: 76,316,121 (GRCm39)	W571*	probably null	Het
Adam18	A	T	8: 25,131,852 (GRCm39)	C420S	probably damaging	Het
Akap5	G	T	12: 76,376,649 (GRCm39)	E694*	probably null	Het
Bbs1	T	C	19: 4,941,019 (GRCm39)	K565R	probably benign	Het
Brix1	A	G	15: 10,478,852 (GRCm39)	F189S	probably damaging	Het
Cnot4	C	A	6: 35,028,176 (GRCm39)	R480L	probably damaging	Het
Dhcr7	A	G	7: 143,401,103 (GRCm39)	H422R	probably damaging	Het
Dock1	A	G	7: 134,770,118 (GRCm39)	M1793V	probably benign	Het
Dock7	A	G	4: 98,892,028 (GRCm39)	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,258,466 (GRCm39)		probably benign	Het
Ftsj3	C	T	11: 106,144,639 (GRCm39)	D117N	probably damaging	Het
Gphn	A	G	12: 78,528,107 (GRCm39)	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,760,301 (GRCm39)	A230V	probably damaging	Het
Hydin	G	A	8: 111,145,156 (GRCm39)	A836T	probably benign	Het
Ift52	G	T	2: 162,867,254 (GRCm39)	E71*	probably null	Het
Ms4a14	T	C	19: 11,281,775 (GRCm39)	D261G	possibly damaging	Het
Nid1	G	A	13: 13,675,084 (GRCm39)	V935I	probably benign	Het
Nrap	T	C	19: 56,330,687 (GRCm39)	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,005,843 (GRCm39)	V1340G	probably benign	Het
Or2aj4	A	T	16: 19,385,103 (GRCm39)	F177I	probably damaging	Het
Or5b94	T	A	19: 12,652,331 (GRCm39)	I254N	probably damaging	Het
Or8d6	T	C	9: 39,854,332 (GRCm39)	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,520,567 (GRCm39)	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,617,609 (GRCm39)	V80A	possibly damaging	Het
Pigw	A	G	11: 84,768,603 (GRCm39)	I242T	probably benign	Het
Prtg	T	G	9: 72,764,267 (GRCm39)	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,691,329 (GRCm39)	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,422,117 (GRCm39)	R577H	probably damaging	Het
Ryr3	G	A	2: 112,506,319 (GRCm39)		probably benign	Het
Selenoi	T	C	5: 30,462,725 (GRCm39)	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,201,591 (GRCm39)	C343R	probably benign	Het
Smurf2	A	T	11: 106,721,874 (GRCm39)	D527E	probably benign	Het
Spam1	C	T	6: 24,797,010 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,841,435 (GRCm39)	V460A	probably benign	Het
Tgoln1	G	A	6: 72,591,096 (GRCm39)	R339W	probably damaging	Het
Tprg1	T	C	16: 25,231,512 (GRCm39)		probably benign	Het
Treml1	T	G	17: 48,671,879 (GRCm39)		probably benign	Het
Ttc39b	A	T	4: 83,155,517 (GRCm39)	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,433,933 (GRCm39)	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 85,797,911 (GRCm39)	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,857,592 (GRCm39)	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,285,381 (GRCm39)	C87R	probably damaging	Het
Zfp790	T	A	7: 29,529,320 (GRCm39)	Y668*	probably null	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
IGL02869:Ctu2	APN	8	123,205,530 (GRCm39)	splice site	probably null
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

2016-08-02