Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03139:Ctu2'

410627

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 #

IGL03139

Quality Score

Status

Chromosome

Chromosomal Location

123202882-123209831 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123205446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 100 (D100G)

Ref Sequence

ENSEMBL: ENSMUSP00000119237 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000116412
AA Change: D125G

PolyPhen 2 Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000112113
Gene: ENSMUSG00000049482
AA Change: D125G

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

possibly damaging
Transcript: ENSMUST00000134127
AA Change: D100G

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482
AA Change: D100G

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
AA Change: D125G

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482
AA Change: D125G

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

noncoding transcript
Transcript: ENSMUST00000131934

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128472

Predicted Effect

probably benign
Transcript: ENSMUST00000212499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148780

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: ENSMUST00000136253

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,391,067 (GRCm39)	F97L	probably benign	Het
Acad10	T	C	5: 121,764,145 (GRCm39)	Y928C	probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Atxn7	T	C	14: 14,052,994 (GRCm38)	V144A	probably damaging	Het
Baiap2l2	T	A	15: 79,155,753 (GRCm39)	N107I	probably damaging	Het
Cd180	A	G	13: 102,842,924 (GRCm39)	K657E	probably damaging	Het
Cep192	T	C	18: 67,961,547 (GRCm39)		probably null	Het
Cma2	A	G	14: 56,211,256 (GRCm39)	I183V	probably damaging	Het
Col18a1	C	A	10: 76,949,177 (GRCm39)	A112S	possibly damaging	Het
Defb29	T	C	2: 152,380,812 (GRCm39)	K66E	probably damaging	Het
Dis3l	T	A	9: 64,219,232 (GRCm39)	D566V	probably damaging	Het
Dtx1	C	A	5: 120,832,955 (GRCm39)	R161L	probably damaging	Het
Efcab6	T	A	15: 83,836,422 (GRCm39)	L436F	probably benign	Het
Fip1l1	A	G	5: 74,731,776 (GRCm39)	I254V	possibly damaging	Het
Gid8	C	A	2: 180,356,501 (GRCm39)	A46E	probably damaging	Het
Grm8	G	T	6: 27,618,649 (GRCm39)	Q398K	probably damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Iigp1c	T	C	18: 60,379,221 (GRCm39)	V252A	probably benign	Het
Kcnt1	T	C	2: 25,784,480 (GRCm39)		probably benign	Het
Lrrc8a	T	C	2: 30,145,683 (GRCm39)	S166P	probably damaging	Het
Map2k6	A	T	11: 110,387,299 (GRCm39)		probably benign	Het
Mmab	A	G	5: 114,571,405 (GRCm39)	L157P	probably damaging	Het
Mmrn1	A	T	6: 60,953,324 (GRCm39)	E535V	probably damaging	Het
Mup4	T	C	4: 59,958,482 (GRCm39)		probably benign	Het
Nup210	A	G	6: 90,997,221 (GRCm39)	S820P	probably benign	Het
Or52b4	A	G	7: 102,184,517 (GRCm39)	K188E	possibly damaging	Het
Pik3cg	T	C	12: 32,242,222 (GRCm39)	I963V	probably damaging	Het
Plcg1	T	C	2: 160,590,049 (GRCm39)		probably null	Het
Plscr1	T	C	9: 92,148,438 (GRCm39)		probably benign	Het
Prss36	C	T	7: 127,532,783 (GRCm39)	G202E	probably damaging	Het
Psen2	A	T	1: 180,068,350 (GRCm39)	V101E	probably damaging	Het
Saxo1	T	C	4: 86,405,999 (GRCm39)	M67V	possibly damaging	Het
Sfrp4	G	A	13: 19,807,728 (GRCm39)	M42I	probably damaging	Het
Strn3	C	A	12: 51,699,633 (GRCm39)		probably benign	Het
Tgfb1i1	C	A	7: 127,848,476 (GRCm39)	P197Q	possibly damaging	Het
Thsd4	A	G	9: 59,904,456 (GRCm39)	V580A	probably benign	Het
Tjp1	C	A	7: 64,990,182 (GRCm39)		probably benign	Het
Tprn	C	T	2: 25,154,066 (GRCm39)	A456V	probably benign	Het
Ttc34	T	C	4: 154,945,727 (GRCm39)	Y763H	probably benign	Het
Ttn	T	C	2: 76,601,507 (GRCm39)	T18686A	probably benign	Het
Uggt2	T	A	14: 119,332,722 (GRCm39)	T71S	probably benign	Het
Vmn2r120	T	A	17: 57,831,742 (GRCm39)	Y349F	probably benign	Het
Zbtb41	A	G	1: 139,351,576 (GRCm39)	T230A	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
IGL02869:Ctu2	APN	8	123,205,530 (GRCm39)	splice site	probably null
IGL03136:Ctu2	APN	8	123,205,940 (GRCm39)	unclassified	probably benign
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