Mutagenetix > Incidental Mutation

Incidental Mutation 'R8546:Ctu2'

659636

Institutional Source

Beutler Lab

Gene Symbol

Ctu2

Ensembl Gene

ENSMUSG00000049482

Gene Name

cytosolic thiouridylase subunit 2

Synonyms

2310061F22Rik

MMRRC Submission

068511-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8546 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

123202882-123209831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 123206102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 281 (L281P)

Ref Sequence

ENSEMBL: ENSMUSP00000133622 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014614] [ENSMUST00000067252] [ENSMUST00000116412] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000134127] [ENSMUST00000136253] [ENSMUST00000146634] [ENSMUST00000151855] [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 damaging
Transcript: ENSMUST00000116412
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: L281P

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

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: 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 damaging
Transcript: ENSMUST00000151855
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: L281P

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

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: ENSMUST00000212499

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot1	T	C	12: 84,064,139 (GRCm39)	S416P	probably benign	Het
Adcy9	G	T	16: 4,236,769 (GRCm39)	A214E	probably benign	Het
Atp11a	T	A	8: 12,901,083 (GRCm39)	W971R	probably damaging	Het
Axl	C	T	7: 25,473,588 (GRCm39)	R346H	probably benign	Het
Bltp3b	A	G	10: 89,630,397 (GRCm39)	N399S	probably damaging	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Cabin1	T	C	10: 75,578,101 (GRCm39)	D532G	probably damaging	Het
Cdh20	A	G	1: 104,861,769 (GRCm39)		probably benign	Het
Cfap97d1	A	G	11: 101,881,687 (GRCm39)	R77G	probably damaging	Het
Clca3b	T	A	3: 144,533,158 (GRCm39)	S625C	probably damaging	Het
Col3a1	G	A	1: 45,380,099 (GRCm39)		probably benign	Het
Cyb5a	G	A	18: 84,889,759 (GRCm39)		probably null	Het
Cyb5rl	T	A	4: 106,925,923 (GRCm39)	V35D	probably damaging	Het
Dnah17	A	G	11: 118,015,101 (GRCm39)	F381S	probably benign	Het
Eif3a	A	T	19: 60,755,208 (GRCm39)	N991K	unknown	Het
Eif6	A	G	2: 155,668,420 (GRCm39)		probably benign	Het
Fahd1	T	C	17: 25,069,057 (GRCm39)	M7V	possibly damaging	Het
Fam171b	A	G	2: 83,685,795 (GRCm39)	T160A	probably damaging	Het
Fnip1	A	G	11: 54,400,826 (GRCm39)	E1075G	probably benign	Het
Fras1	G	A	5: 96,857,825 (GRCm39)	V2040I	probably benign	Het
Gjc2	G	T	11: 59,067,182 (GRCm39)	D433E	unknown	Het
H2bc13	G	A	13: 21,900,042 (GRCm39)	T91M	probably damaging	Het
Igsf9b	T	C	9: 27,244,426 (GRCm39)	S794P	possibly damaging	Het
Irx6	A	T	8: 93,405,264 (GRCm39)	R377S	probably benign	Het
Khnyn	A	G	14: 56,123,275 (GRCm39)	T10A	probably benign	Het
Kmt2e	A	T	5: 23,686,242 (GRCm39)	H389L	probably damaging	Het
Lin7c	A	G	2: 109,726,716 (GRCm39)	I122V	probably null	Het
Lonp1	G	A	17: 56,933,702 (GRCm39)	P58S	probably benign	Het
Loxl4	T	C	19: 42,596,027 (GRCm39)	H142R	probably benign	Het
Mcm6	C	T	1: 128,273,685 (GRCm39)	E382K	possibly damaging	Het
Mettl2	T	A	11: 105,022,399 (GRCm39)	N196K	probably benign	Het
Myo7b	T	C	18: 32,123,201 (GRCm39)	E712G	probably benign	Het
Ncam2	C	T	16: 81,314,419 (GRCm39)	T465I	probably benign	Het
Or7e169	T	A	9: 19,757,685 (GRCm39)	T77S	probably damaging	Het
Padi4	T	C	4: 140,484,841 (GRCm39)	E340G	probably damaging	Het
Patj	T	A	4: 98,325,634 (GRCm39)	S490R	probably benign	Het
Pkd1l3	G	A	8: 110,393,615 (GRCm39)	S1981N	possibly damaging	Het
Poll	T	A	19: 45,546,416 (GRCm39)	D208V	probably damaging	Het
Polr3f	A	G	2: 144,374,284 (GRCm39)	D64G	probably damaging	Het
Prkdc	A	G	16: 15,480,899 (GRCm39)	Y340C	probably damaging	Het
Prmt6	C	T	3: 110,158,034 (GRCm39)	R85Q	possibly damaging	Het
Rgl3	T	C	9: 21,899,156 (GRCm39)	K140R	probably benign	Het
Rhoj	A	G	12: 75,422,124 (GRCm39)	T61A	probably benign	Het
Skor1	T	C	9: 63,049,570 (GRCm39)	D795G	probably damaging	Het
Slc28a2b	A	T	2: 122,353,235 (GRCm39)	M472L	probably benign	Het
Tekt5	A	G	16: 10,175,877 (GRCm39)	V556A	probably benign	Het
Tlr1	T	A	5: 65,084,374 (GRCm39)	I68F	probably damaging	Het
Tnni3k	G	T	3: 154,498,444 (GRCm39)	N798K	probably benign	Het
Tuft1	T	A	3: 94,529,420 (GRCm39)	E227D	probably benign	Het
Tulp1	T	C	17: 28,582,710 (GRCm39)	K146R	probably benign	Het
Usp24	G	A	4: 106,259,326 (GRCm39)	A1616T	probably benign	Het
Ythdc1	A	T	5: 86,974,607 (GRCm39)	K452N	possibly damaging	Het
Zscan4-ps3	T	A	7: 11,346,697 (GRCm39)	H244Q	possibly 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
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
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'- CCAAAGAGGAGCTTCTGCAGAC -3'
(R):5'- AGCAAATCCCAGCAGTACGG -3'

Sequencing Primer
(F):5'- AGCTTCTGCAGACCCTGAG -3'
(R):5'- AGCAGTACGGGCTCCTACTG -3'

Posted On

2021-01-18