Mutagenetix > Incidental Mutation

Incidental Mutation 'R5804:Ctu2'

448406

Institutional Source

Beutler Lab

Gene Symbol

Ctu2

Ensembl Gene

ENSMUSG00000049482

Gene Name

cytosolic thiouridylase subunit 2

Synonyms

2310061F22Rik

MMRRC Submission

043211-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5804 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123202882-123209831 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 123207965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116104 (fasta)

Gene Model

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

AlphaFold

Q3U308

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

noncoding transcript
Transcript: ENSMUST00000128472

Predicted Effect

probably null
Transcript: ENSMUST00000136253

Predicted Effect

probably null
Transcript: ENSMUST00000136253

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: ENSMUST00000131934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154099

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

probably benign
Transcript: ENSMUST00000212499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155803

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000148497

SMART Domains

Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
low complexity region	86	101	N/A	INTRINSIC
transmembrane domain	165	187	N/A	INTRINSIC
low complexity region	288	300	N/A	INTRINSIC
transmembrane domain	351	373	N/A	INTRINSIC
transmembrane domain	386	408	N/A	INTRINSIC
transmembrane domain	505	522	N/A	INTRINSIC
transmembrane domain	529	548	N/A	INTRINSIC
Pfam:PIEZO	580	809	3.2e-98	PFAM
low complexity region	826	837	N/A	INTRINSIC
low complexity region	1003	1020	N/A	INTRINSIC
low complexity region	1046	1063	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	T	16: 8,396,100 (GRCm39)	R19*	probably null	Het
Abcb9	A	G	5: 124,218,118 (GRCm39)	M406T	probably benign	Het
Ager	A	G	17: 34,817,157 (GRCm39)	E32G	probably damaging	Het
Cdk10	T	A	8: 123,955,579 (GRCm39)		probably null	Het
Cfap97d1	A	G	11: 101,881,640 (GRCm39)	N112S	probably damaging	Het
Ctsl	A	T	13: 64,514,302 (GRCm39)	Y259N	probably damaging	Het
Dse	T	A	10: 34,029,375 (GRCm39)	I572F	possibly damaging	Het
Flt1	A	T	5: 147,517,247 (GRCm39)		probably null	Het
Gatm	T	A	2: 122,433,083 (GRCm39)	Y193F	probably benign	Het
Gpaa1	T	C	15: 76,216,826 (GRCm39)	F170S	probably damaging	Het
Grm3	A	G	5: 9,620,155 (GRCm39)	L363P	probably benign	Het
Heatr5b	G	A	17: 79,138,951 (GRCm39)	P64S	probably damaging	Het
Hfm1	A	G	5: 107,026,455 (GRCm39)		probably null	Het
Hivep2	A	C	10: 14,009,519 (GRCm39)	K1725N	probably benign	Het
Hmcn1	A	T	1: 150,550,098 (GRCm39)	C2695*	probably null	Het
Hmgcr	G	A	13: 96,802,695 (GRCm39)	T68M	probably damaging	Het
Igsf21	A	T	4: 139,755,385 (GRCm39)	D423E	possibly damaging	Het
Jag1	T	C	2: 136,930,124 (GRCm39)	N751S	probably benign	Het
Klrc2	A	T	6: 129,637,436 (GRCm39)	N28K	possibly damaging	Het
Lrrc8c	A	T	5: 105,727,423 (GRCm39)	D29V	possibly damaging	Het
Mtcl1	A	C	17: 66,650,132 (GRCm39)	S1329A	probably benign	Het
Nin	C	T	12: 70,092,375 (GRCm39)	V645I	possibly damaging	Het
Or4c127	T	C	2: 89,833,332 (GRCm39)	I194T	possibly damaging	Het
Or51i1	T	C	7: 103,671,439 (GRCm39)	I29V	probably benign	Het
Or8s2	T	A	15: 98,276,215 (GRCm39)	M259L	probably benign	Het
Or9g4	T	A	2: 85,504,682 (GRCm39)	D271V	probably damaging	Het
Pfpl	A	T	19: 12,407,027 (GRCm39)	H426L	probably benign	Het
Poteg	A	G	8: 27,946,826 (GRCm39)	D238G	probably damaging	Het
Psen1	T	C	12: 83,778,474 (GRCm39)	F386L	probably damaging	Het
Rassf9	A	T	10: 102,380,905 (GRCm39)	I96F	probably damaging	Het
Robo1	T	C	16: 72,840,077 (GRCm39)		probably null	Het
Slc16a4	A	T	3: 107,206,280 (GRCm39)	M117L	probably benign	Het
Slc4a8	A	G	15: 100,689,506 (GRCm39)	N372S	possibly damaging	Het
Stmn4	G	A	14: 66,593,748 (GRCm39)	G47D	probably benign	Het
Tex26	A	G	5: 149,386,612 (GRCm39)	N137S	possibly damaging	Het
Ttn	T	A	2: 76,747,163 (GRCm39)	I4629F	probably benign	Het
Ubash3a	G	A	17: 31,427,206 (GRCm39)		probably null	Het
Ube3d	T	C	9: 86,307,401 (GRCm39)	I233V	probably benign	Het
Utrn	T	A	10: 12,297,369 (GRCm39)	T680S	probably damaging	Het
Vps13d	G	A	4: 144,826,640 (GRCm39)	T2846I	probably benign	Het
Zbtb22	TGGACCCGGGAC	TGGACCCGGGACCCGGGAC	17: 34,137,593 (GRCm39)		probably null	Het
Zfp41	C	T	15: 75,490,557 (GRCm39)	P170S	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGACACTGCTGGTTCGTGC -3'
(R):5'- CCTTCATGTTCACTCGGCAG -3'

Sequencing Primer
(F):5'- CGGTGGTTCTCTGGCTACC -3'
(R):5'- ATGTTCACTCGGCAGCTATAAC -3'

Posted On

2016-12-15