Incidental Mutation 'IGL02190:Ctu2'
ID 283847
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 # IGL02190
Quality Score
Status
Chromosome 8
Chromosomal Location 123202882-123209831 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 123208397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000067252] [ENSMUST00000116412] [ENSMUST00000127664] [ENSMUST00000128383] [ENSMUST00000151855] [ENSMUST00000136253] [ENSMUST00000134127] [ENSMUST00000146634] [ENSMUST00000156333]
AlphaFold Q3U308
Predicted Effect probably benign
Transcript: ENSMUST00000067252
SMART Domains Protein: ENSMUSP00000089777
Gene: ENSMUSG00000014444

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000152596
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131934
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128472
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155803
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134304
Predicted Effect probably benign
Transcript: ENSMUST00000151855
SMART Domains Protein: ENSMUSP00000133622
Gene: ENSMUSG00000049482

DomainStartEndE-ValueType
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: ENSMUST00000136253
Predicted Effect probably benign
Transcript: ENSMUST00000148497
SMART Domains Protein: ENSMUSP00000121725
Gene: ENSMUSG00000014444

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000134127
SMART Domains Protein: ENSMUSP00000119237
Gene: ENSMUSG00000049482

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000212499
Predicted Effect probably benign
Transcript: ENSMUST00000156333
SMART Domains Protein: ENSMUSP00000114584
Gene: ENSMUSG00000014444

DomainStartEndE-ValueType
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
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,217,788 (GRCm39) probably benign Het
Ano1 T C 7: 144,172,620 (GRCm39) E521G probably benign Het
As3mt A T 19: 46,708,384 (GRCm39) I224F probably benign Het
Atp5mf C A 5: 145,120,642 (GRCm39) probably benign Het
Cacna1h A G 17: 25,652,000 (GRCm39) V48A probably benign Het
Ecpas A T 4: 58,800,190 (GRCm39) S1838R probably benign Het
Efcab5 T C 11: 77,012,140 (GRCm39) R841G probably benign Het
Erbb3 A T 10: 128,406,879 (GRCm39) probably null Het
Fkbp15 G T 4: 62,223,059 (GRCm39) P947T possibly damaging Het
Gabpb1 A G 2: 126,495,469 (GRCm39) probably benign Het
Gcn1 G T 5: 115,752,183 (GRCm39) V2100L probably damaging Het
Gemin5 A C 11: 58,025,668 (GRCm39) V977G probably damaging Het
Gpr107 T A 2: 31,068,332 (GRCm39) Y265N probably damaging Het
Gpx8 T C 13: 113,179,843 (GRCm39) probably benign Het
H2-Eb2 A T 17: 34,553,348 (GRCm39) N178I probably damaging Het
Ift172 C T 5: 31,411,802 (GRCm39) V1587I possibly damaging Het
Lrrc45 A G 11: 120,609,334 (GRCm39) T398A probably damaging Het
Mmrn1 G T 6: 60,964,177 (GRCm39) V1059L probably benign Het
Morn5 A G 2: 35,969,527 (GRCm39) D147G probably benign Het
Mphosph9 T C 5: 124,403,488 (GRCm39) R847G possibly damaging Het
Nutm1 C T 2: 112,079,751 (GRCm39) W721* probably null Het
Or1j18 T C 2: 36,624,591 (GRCm39) L86P probably benign Het
Or2j6 T C 7: 139,980,033 (GRCm39) probably benign Het
Or5w13 A G 2: 87,523,407 (GRCm39) M273T probably benign Het
Rgl3 A G 9: 21,893,004 (GRCm39) F227L probably benign Het
Ropn1l G T 15: 31,443,487 (GRCm39) L182I probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Scgb1a1 A T 19: 9,065,231 (GRCm39) L12Q probably damaging Het
Scp2 A G 4: 107,944,325 (GRCm39) S237P probably benign Het
Skint5 T C 4: 113,797,962 (GRCm39) Q207R possibly damaging Het
Slc16a5 A G 11: 115,353,435 (GRCm39) M1V probably null Het
Tox2 G A 2: 163,164,926 (GRCm39) R522H possibly damaging Het
Trip12 A T 1: 84,743,791 (GRCm39) N505K probably damaging Het
Tuba1c G A 15: 98,935,870 (GRCm39) D444N unknown Het
Vmn1r174 A G 7: 23,454,252 (GRCm39) E306G unknown Het
Vmn2r111 A T 17: 22,789,754 (GRCm39) F417L probably benign Het
Vmn2r15 A T 5: 109,441,240 (GRCm39) M206K probably damaging Het
Vmn2r95 G T 17: 18,672,038 (GRCm39) A592S probably benign Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Ctu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Ctu2 APN 8 123,203,977 (GRCm39) unclassified probably benign
IGL01764:Ctu2 APN 8 123,206,161 (GRCm39) unclassified 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
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 2015-04-16