Mutagenetix > Incidental Mutation

Incidental Mutation 'R1078:Ctu2'

85734

Institutional Source

Beutler Lab

Gene Symbol

Ctu2

Ensembl Gene

ENSMUSG00000049482

Gene Name

cytosolic thiouridylase subunit 2

Synonyms

2310061F22Rik

MMRRC Submission

039164-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122476143-122484138 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122481499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 95 (V95A)

Ref Sequence

ENSEMBL: ENSMUSP00000116104 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000116412
AA Change: V485A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: V485A

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

noncoding transcript
Transcript: ENSMUST00000131934

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

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136253
AA Change: V95A

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149925

Predicted Effect

unknown
Transcript: ENSMUST00000212499
AA Change: V27A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152596

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154099

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: 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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.4%
20x: 94.4%

Validation Efficiency

96% (53/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	C	11: 23,611,762	I358S	probably benign	Het
9130230L23Rik	T	C	5: 65,988,355	T138A	unknown	Het
Abi3bp	T	C	16: 56,654,081		probably null	Het
Alpk3	A	T	7: 81,078,600	M493L	probably benign	Het
Bace2	C	T	16: 97,356,860	A20V	unknown	Het
Bms1	T	C	6: 118,405,221	D452G	probably benign	Het
Ccdc187	T	C	2: 26,294,377	T3A	probably damaging	Het
Cyp2a5	A	G	7: 26,835,541	K60E	probably benign	Het
Cyp4f13	T	C	17: 32,925,568	H318R	probably damaging	Het
Dlgap5	G	A	14: 47,399,566	T485M	probably damaging	Het
Dsp	C	T	13: 38,183,106		probably benign	Het
Ell2	T	C	13: 75,746,419		probably benign	Het
Eml2	A	T	7: 19,179,762	Y168F	probably benign	Het
Ep400	C	T	5: 110,735,522		probably benign	Het
Ercc4	C	A	16: 13,130,197	A336D	probably benign	Het
Fam189a2	T	A	19: 23,973,575	R547S	probably benign	Het
Fat4	T	C	3: 38,983,086	L3629S	probably benign	Het
Gabbr2	C	T	4: 46,664,833	R925H	probably damaging	Het
Gfi1b	A	T	2: 28,613,865	W108R	probably damaging	Het
Gtse1	C	T	15: 85,862,307	P108L	probably damaging	Het
Hfm1	A	T	5: 106,878,830	F140I	probably damaging	Het
Hyal2	T	A	9: 107,572,246	H400Q	probably benign	Het
Igfn1	A	G	1: 135,974,847	Y371H	probably damaging	Het
Iltifb	T	G	10: 118,290,151	*180C	probably null	Het
Kdm2b	T	C	5: 122,961,541	T118A	possibly damaging	Het
Lama5	A	T	2: 180,179,764		probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lmo7	C	T	14: 101,920,474		probably benign	Het
Lrrc37a	G	T	11: 103,497,631	P2323T	unknown	Het
Lrrc38	A	G	4: 143,350,518	Y117C	probably benign	Het
Myo1e	T	C	9: 70,383,999	V1024A	probably benign	Het
Myrfl	T	C	10: 116,776,732	N904S	possibly damaging	Het
Olfr1015	T	C	2: 85,786,093	V194A	possibly damaging	Het
Olfr103	T	A	17: 37,337,026	I69F	probably damaging	Het
Olfr1297	T	C	2: 111,621,345	H243R	probably damaging	Het
Pld4	A	T	12: 112,763,442	I53F	probably benign	Het
Plekhg4	T	A	8: 105,381,677	C1117*	probably null	Het
Prss39	G	A	1: 34,502,086	E224K	probably benign	Het
Psme1	G	T	14: 55,580,650	G149V	probably damaging	Het
Soat2	T	A	15: 102,153,138		probably null	Het
Stab2	C	T	10: 86,907,133		probably null	Het
Tcf7l2	A	G	19: 55,743,195	T127A	probably benign	Het
Tcp1	T	C	17: 12,923,204		probably benign	Het
Thbs4	G	A	13: 92,762,926		probably benign	Het
Tmf1	T	C	6: 97,173,300	D482G	probably damaging	Het
Trim66	G	T	7: 109,472,319	P591H	probably damaging	Het
Umodl1	T	C	17: 30,959,373	S108P	probably benign	Het
Unc79	T	G	12: 103,074,853	M715R	probably benign	Het
Usp34	C	A	11: 23,433,175		probably benign	Het
Utrn	T	G	10: 12,455,566		probably null	Het
Zfp830	T	C	11: 82,765,339		probably null	Het

Other mutations in Ctu2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00772:Ctu2	APN	8	122477238	unclassified	probably benign
IGL01764:Ctu2	APN	8	122479422	unclassified	probably benign
IGL02190:Ctu2	APN	8	122481658	utr 3 prime	probably benign
IGL02869:Ctu2	APN	8	122478791	splice site	probably null
IGL03136:Ctu2	APN	8	122479201	unclassified	probably benign
IGL03139:Ctu2	APN	8	122478707	missense	possibly damaging	0.65
IGL03237:Ctu2	APN	8	122479053	missense	probably benign	0.00
PIT4354001:Ctu2	UTSW	8	122478975	missense	probably damaging	0.99
R0001:Ctu2	UTSW	8	122478920	missense	probably benign
R0359:Ctu2	UTSW	8	122478193	missense	probably damaging	0.99
R1938:Ctu2	UTSW	8	122479285	missense	probably damaging	1.00
R2143:Ctu2	UTSW	8	122479152	missense	probably benign	0.16
R2145:Ctu2	UTSW	8	122479152	missense	probably benign	0.16
R2221:Ctu2	UTSW	8	122480910	missense	probably damaging	1.00
R4111:Ctu2	UTSW	8	122476517	missense	possibly damaging	0.64
R4284:Ctu2	UTSW	8	122478239	missense	probably benign	0.04
R4704:Ctu2	UTSW	8	122479303	missense	probably damaging	1.00
R4774:Ctu2	UTSW	8	122481112	missense	probably benign	0.17
R5254:Ctu2	UTSW	8	122476588	missense	probably damaging	1.00
R5804:Ctu2	UTSW	8	122481226	critical splice donor site	probably null
R5935:Ctu2	UTSW	8	122476954	unclassified	probably benign
R7378:Ctu2	UTSW	8	122481499	missense	probably damaging	0.99
R7911:Ctu2	UTSW	8	122480994	missense	probably benign	0.01
R8546:Ctu2	UTSW	8	122479363	missense	probably damaging	1.00
R8876:Ctu2	UTSW	8	122480212	missense
R9082:Ctu2	UTSW	8	122477213	missense	probably damaging	1.00
R9272:Ctu2	UTSW	8	122479306	missense	probably benign
R9796:Ctu2	UTSW	8	122476250	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- ACAGTTCAGAGTGAGACCAGGCAC -3'
(R):5'- GCCCTGATGATGCTGCTGTCAAAG -3'

Sequencing Primer
(F):5'- AGGCACATAAATCTACTTCTGCTTC -3'
(R):5'- CCCACAAGTACTGTAGGGTTTTC -3'

Posted On

2013-11-18