Incidental Mutation 'IGL01926:Trnau1ap'
ID 180315
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 # IGL01926
Quality Score
Status
Chromosome 4
Chromosomal Location 132039074-132056849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132046873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 141 (F141L)
Ref Sequence ENSEMBL: ENSMUSP00000030730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030730] [ENSMUST00000105960] [ENSMUST00000105962] [ENSMUST00000125513] [ENSMUST00000127402] [ENSMUST00000147652] [ENSMUST00000137520]
AlphaFold Q80VC6
Predicted Effect probably benign
Transcript: ENSMUST00000030730
AA Change: F141L

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
AA Change: F141L

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 probably benign
Transcript: ENSMUST00000105960
SMART Domains Protein: ENSMUSP00000101580
Gene: ENSMUSG00000028898

DomainStartEndE-ValueType
PDB:2DHG|A 21 70 9e-25 PDB
SCOP:d1fj7a_ 22 70 7e-7 SMART
Blast:RRM 31 70 2e-21 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000105962
SMART Domains Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898

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 probably benign
Transcript: ENSMUST00000125513
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 noncoding transcript
Transcript: ENSMUST00000131524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146166
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: ENSMUST00000137520
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,026,155 (GRCm39) probably benign Het
Ano1 C T 7: 144,164,612 (GRCm39) V671M possibly damaging Het
Atf7ip2 G T 16: 10,059,749 (GRCm39) D430Y probably damaging Het
Atp7b A T 8: 22,501,797 (GRCm39) D740E probably damaging Het
Bbs1 A C 19: 4,952,891 (GRCm39) S191A probably benign Het
Capn5 C T 7: 97,777,679 (GRCm39) probably null Het
Cyp2c40 A G 19: 39,791,099 (GRCm39) I244T probably benign Het
Dsg1a G T 18: 20,466,641 (GRCm39) D504Y possibly damaging Het
Eif3a T C 19: 60,758,399 (GRCm39) D793G unknown Het
Exoc4 C A 6: 33,839,077 (GRCm39) D704E probably damaging Het
Fmo5 A C 3: 97,544,797 (GRCm39) T109P probably damaging Het
Ggt5 A G 10: 75,439,935 (GRCm39) I179V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Irs1 G T 1: 82,267,680 (GRCm39) R179S probably damaging Het
Jmy A T 13: 93,596,294 (GRCm39) V445E probably damaging Het
Jup C A 11: 100,274,412 (GRCm39) V93F probably benign Het
Krt20 T C 11: 99,328,652 (GRCm39) Y91C probably damaging Het
Mug2 T A 6: 122,013,063 (GRCm39) probably benign Het
Mybpc3 C T 2: 90,965,752 (GRCm39) T1188I possibly damaging Het
Myt1 T C 2: 181,463,790 (GRCm39) L1032P probably benign Het
Naip6 A T 13: 100,436,704 (GRCm39) N606K probably damaging Het
Nfrkb A T 9: 31,325,475 (GRCm39) M973L probably benign Het
Or5aq6 C T 2: 86,923,318 (GRCm39) C141Y probably damaging Het
Or5b120 A T 19: 13,480,105 (GRCm39) T133S possibly damaging Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Plekha5 T A 6: 140,471,642 (GRCm39) M131K probably benign Het
Pomt1 T A 2: 32,133,484 (GRCm39) S207T probably benign Het
Prlr T A 15: 10,314,306 (GRCm39) M1K probably null Het
Prr15 A G 6: 54,306,490 (GRCm39) K83E probably damaging Het
Rnf4 A G 5: 34,504,123 (GRCm39) N5S probably benign Het
Sel1l3 T A 5: 53,357,485 (GRCm39) H169L probably benign Het
Slc24a5 A G 2: 124,910,823 (GRCm39) I85V probably benign Het
Tmc2 T C 2: 130,102,160 (GRCm39) I775T possibly damaging Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R probably damaging Het
Zswim9 A T 7: 12,994,248 (GRCm39) V636D possibly damaging Het
Other mutations in Trnau1ap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Trnau1ap APN 4 132,055,817 (GRCm39) missense possibly damaging 0.95
IGL01970:Trnau1ap APN 4 132,041,298 (GRCm39) splice site probably benign
IGL02336:Trnau1ap APN 4 132,041,331 (GRCm39) nonsense probably null
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 2014-05-07