Incidental Mutation 'IGL02336:Trnau1ap'
ID 288839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trnau1ap
Ensembl Gene ENSMUSG00000028898
Gene Name tRNA selenocysteine 1 associated protein 1
Synonyms 1110007F05Rik, SECp43, Trspap1
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL02336
Quality Score
Status
Chromosome 4
Chromosomal Location 132039074-132056849 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 132041331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 194 (E194*)
Ref Sequence ENSEMBL: ENSMUSP00000101582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030730] [ENSMUST00000105962] [ENSMUST00000125513] [ENSMUST00000147652] [ENSMUST00000127402] [ENSMUST00000137520]
AlphaFold Q80VC6
Predicted Effect probably null
Transcript: ENSMUST00000030730
AA Change: E234*
SMART Domains Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
AA Change: E234*

DomainStartEndE-ValueType
RRM 4 78 3.66e-8 SMART
RRM 97 171 2.2e-11 SMART
low complexity region 185 204 N/A INTRINSIC
low complexity region 213 229 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083163
Predicted Effect probably null
Transcript: ENSMUST00000105962
AA Change: E194*
SMART Domains Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898
AA Change: E194*

DomainStartEndE-ValueType
RRM 4 78 3.66e-8 SMART
PDB:2DHG|A 87 137 7e-24 PDB
SCOP:d1cvja1 97 137 9e-5 SMART
Blast:RRM 97 138 2e-20 BLAST
low complexity region 145 164 N/A INTRINSIC
low complexity region 173 189 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116965
Predicted Effect probably benign
Transcript: ENSMUST00000125513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128131
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153474
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196061
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137343
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126380
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182826
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128000
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131524
Predicted Effect probably benign
Transcript: ENSMUST00000147652
SMART Domains Protein: ENSMUSP00000127273
Gene: ENSMUSG00000028898

DomainStartEndE-ValueType
RRM 4 78 1.73e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127402
SMART Domains Protein: ENSMUSP00000120657
Gene: ENSMUSG00000028898

DomainStartEndE-ValueType
RRM 4 78 3.66e-8 SMART
low complexity region 101 120 N/A INTRINSIC
low complexity region 129 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000137520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232260
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an allele lacking exons 7 and 8 exhibit prenatal lethality. Mice homozygous for a conditional allele activated in neurons exhibit impaired performance on a rotarod. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accsl A G 2: 93,696,253 (GRCm39) V119A possibly damaging Het
Adamts12 T A 15: 11,311,331 (GRCm39) M1196K probably benign Het
Adgre1 T A 17: 57,718,024 (GRCm39) C345* probably null Het
Adrb2 T C 18: 62,312,078 (GRCm39) E249G probably benign Het
Amdhd1 T A 10: 93,360,291 (GRCm39) I423F probably benign Het
Ankhd1 A G 18: 36,727,867 (GRCm39) N501S probably damaging Het
Bltp2 T C 11: 78,179,858 (GRCm39) V2127A probably damaging Het
Cd180 T A 13: 102,841,821 (GRCm39) I289N probably damaging Het
Chst5 T A 8: 112,616,949 (GRCm39) I224F probably damaging Het
Cox6a2 A G 7: 127,805,103 (GRCm39) I60T possibly damaging Het
Dnajc6 C T 4: 101,471,483 (GRCm39) probably null Het
Dpp6 G A 5: 27,674,409 (GRCm39) E179K probably benign Het
Fasn G A 11: 120,704,562 (GRCm39) T1341I possibly damaging Het
Fat1 C T 8: 45,404,620 (GRCm39) T457I probably benign Het
Filip1l A T 16: 57,392,096 (GRCm39) probably null Het
Gje1 A T 10: 14,592,413 (GRCm39) I123N probably damaging Het
Gli3 A G 13: 15,894,874 (GRCm39) T683A probably damaging Het
Gm29326 C A 7: 29,260,833 (GRCm39) noncoding transcript Het
Gm5460 A G 14: 33,765,909 (GRCm39) probably benign Het
Hspa4 C T 11: 53,153,200 (GRCm39) S739N probably benign Het
Ighv1-42 T A 12: 114,900,885 (GRCm39) I67F probably damaging Het
Iqgap1 A G 7: 80,402,041 (GRCm39) V408A probably benign Het
Kdm7a A T 6: 39,147,198 (GRCm39) W250R probably damaging Het
Kif5a A G 10: 127,078,565 (GRCm39) I360T possibly damaging Het
Maml1 T C 11: 50,148,992 (GRCm39) N916S probably benign Het
Mier2 A T 10: 79,384,184 (GRCm39) probably benign Het
Mpst A T 15: 78,294,474 (GRCm39) T69S probably benign Het
Nlk C A 11: 78,477,763 (GRCm39) V327F probably damaging Het
Nme5 A T 18: 34,711,730 (GRCm39) S4T probably benign Het
Notch2 A G 3: 98,045,711 (GRCm39) I1625M possibly damaging Het
Nup210l T C 3: 90,088,859 (GRCm39) probably null Het
Oas1d A G 5: 121,057,111 (GRCm39) E239G probably damaging Het
Olfm4 T C 14: 80,243,761 (GRCm39) S110P probably damaging Het
Or52e2 T C 7: 102,804,772 (GRCm39) M61V probably benign Het
Parn T A 16: 13,384,567 (GRCm39) I499F probably damaging Het
Ppargc1a G A 5: 51,653,068 (GRCm39) Q165* probably null Het
Ppp1r12b T A 1: 134,814,244 (GRCm39) E353V probably damaging Het
Prkdc A G 16: 15,603,842 (GRCm39) Q2952R possibly damaging Het
Prkdc G T 16: 15,603,843 (GRCm39) Q2952H probably benign Het
Qars1 G T 9: 108,392,185 (GRCm39) E143* probably null Het
Reln A G 5: 22,134,132 (GRCm39) Y2599H probably damaging Het
Rnf123 T C 9: 107,939,041 (GRCm39) E803G probably damaging Het
Rnf141 G A 7: 110,436,405 (GRCm39) Q8* probably null Het
Rnf167 A G 11: 70,540,952 (GRCm39) I193V probably benign Het
Rprd2 A T 3: 95,694,622 (GRCm39) M137K probably benign Het
Rtf1 T G 2: 119,559,226 (GRCm39) probably benign Het
Serpina1d T A 12: 103,731,055 (GRCm39) R308* probably null Het
Smg7 T C 1: 152,719,030 (GRCm39) Y899C probably benign Het
Tbr1 C A 2: 61,635,336 (GRCm39) H95Q possibly damaging Het
Tcf19 A T 17: 35,825,380 (GRCm39) probably null Het
Timm44 T A 8: 4,317,692 (GRCm39) R210W probably damaging Het
Trp63 G A 16: 25,639,192 (GRCm39) G127S probably damaging Het
Trrap C T 5: 144,735,200 (GRCm39) A989V probably benign Het
Ttn T C 2: 76,600,326 (GRCm39) D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,229,952 (GRCm39) probably benign Het
Vmn1r77 G A 7: 11,775,223 (GRCm39) probably null Het
Vmn1r80 A G 7: 11,927,181 (GRCm39) Y97C probably benign Het
Vmn2r77 G A 7: 86,451,224 (GRCm39) C370Y probably damaging Het
Xntrpc C A 7: 101,733,492 (GRCm39) A147D probably damaging Het
Zc3h4 C T 7: 16,159,702 (GRCm39) S424F unknown Het
Zcwpw1 T A 5: 137,808,376 (GRCm39) S275T probably damaging Het
Zfp979 C T 4: 147,699,808 (GRCm39) C44Y probably damaging Het
Zscan20 T C 4: 128,479,587 (GRCm39) H968R probably damaging Het
Zswim3 T C 2: 164,662,297 (GRCm39) V259A probably damaging Het
Zzz3 T G 3: 152,133,696 (GRCm39) D251E possibly damaging Het
Other mutations in Trnau1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Trnau1ap APN 4 132,055,817 (GRCm39) missense possibly damaging 0.95
IGL01926:Trnau1ap APN 4 132,046,873 (GRCm39) missense probably benign 0.39
IGL01970:Trnau1ap APN 4 132,041,298 (GRCm39) splice site probably benign
IGL03248:Trnau1ap APN 4 132,049,114 (GRCm39) missense probably damaging 1.00
IGL03046:Trnau1ap UTSW 4 132,039,252 (GRCm39) missense probably damaging 1.00
R0079:Trnau1ap UTSW 4 132,041,656 (GRCm39) missense probably damaging 1.00
R1940:Trnau1ap UTSW 4 132,049,114 (GRCm39) missense probably damaging 1.00
R2849:Trnau1ap UTSW 4 132,049,045 (GRCm39) missense possibly damaging 0.69
R4683:Trnau1ap UTSW 4 132,049,063 (GRCm39) missense probably damaging 1.00
R5056:Trnau1ap UTSW 4 132,054,482 (GRCm39) intron probably benign
R5819:Trnau1ap UTSW 4 132,052,521 (GRCm39) splice site probably benign
R6803:Trnau1ap UTSW 4 132,049,081 (GRCm39) missense probably damaging 0.99
R9069:Trnau1ap UTSW 4 132,056,662 (GRCm39) critical splice donor site probably null
R9183:Trnau1ap UTSW 4 132,052,565 (GRCm39) missense probably damaging 1.00
R9314:Trnau1ap UTSW 4 132,056,697 (GRCm39) start gained probably benign
Posted On 2015-04-16