Incidental Mutation 'R4683:Trnau1ap'
ID 350109
Institutional Source Beutler Lab
Gene Symbol Trnau1ap
Ensembl Gene ENSMUSG00000028898
Gene Name tRNA selenocysteine 1 associated protein 1
Synonyms 1110007F05Rik, SECp43, Trspap1
MMRRC Submission 041935-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R4683 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132039074-132056849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 132049063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 47 (Y47N)
Ref Sequence ENSEMBL: ENSMUSP00000101580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030730] [ENSMUST00000105960] [ENSMUST00000105962] [ENSMUST00000125513] [ENSMUST00000127402] [ENSMUST00000137520] [ENSMUST00000147652]
AlphaFold Q80VC6
Predicted Effect probably damaging
Transcript: ENSMUST00000030730
AA Change: Y113N

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
AA Change: Y113N

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 damaging
Transcript: ENSMUST00000105960
AA Change: Y47N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101580
Gene: ENSMUSG00000028898
AA Change: Y47N

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 damaging
Transcript: ENSMUST00000105962
AA Change: Y113N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898
AA Change: Y113N

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 probably benign
Transcript: ENSMUST00000137520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146166
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150959
Predicted Effect probably benign
Transcript: ENSMUST00000147652
SMART Domains Protein: ENSMUSP00000127273
Gene: ENSMUSG00000028898

DomainStartEndE-ValueType
RRM 4 78 1.73e-9 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr3 T C 1: 90,141,709 (GRCm39) V56A probably damaging Het
Acyp1 A G 12: 85,325,717 (GRCm39) probably benign Het
Adgrb1 A T 15: 74,459,963 (GRCm39) K532I probably damaging Het
Ahrr T A 13: 74,372,885 (GRCm39) silent Het
Asz1 T C 6: 18,055,541 (GRCm39) probably benign Het
AW554918 T C 18: 25,472,852 (GRCm39) Y219H probably benign Het
Ccno C A 13: 113,125,543 (GRCm39) probably null Het
Cdh17 A T 4: 11,817,036 (GRCm39) N816Y possibly damaging Het
Clca4a C T 3: 144,660,701 (GRCm39) V708I probably damaging Het
Col6a3 T A 1: 90,701,179 (GRCm39) Y2579F unknown Het
Col6a4 A G 9: 105,957,329 (GRCm39) V165A probably benign Het
Csf1r T A 18: 61,257,983 (GRCm39) C651S probably damaging Het
Cyp4f14 T C 17: 33,126,985 (GRCm39) D315G probably null Het
Def6 A G 17: 28,436,609 (GRCm39) D91G probably damaging Het
Dmxl1 T G 18: 50,011,088 (GRCm39) S1082A probably damaging Het
Dnah2 A T 11: 69,349,768 (GRCm39) Y2392N probably damaging Het
Dsg4 T C 18: 20,594,466 (GRCm39) S532P probably benign Het
Efr3a C A 15: 65,691,650 (GRCm39) S126R probably damaging Het
Gab1 A C 8: 81,515,261 (GRCm39) H352Q probably benign Het
Gm1110 A G 9: 26,831,890 (GRCm39) M87T probably damaging Het
Greb1 C T 12: 16,761,774 (GRCm39) M535I possibly damaging Het
Greb1l T A 18: 10,529,563 (GRCm39) probably null Het
Gucy2d T C 7: 98,102,650 (GRCm39) C487R probably benign Het
H1f7 A T 15: 98,154,921 (GRCm39) I76N probably damaging Het
Lrrc2 A T 9: 110,791,614 (GRCm39) H122L possibly damaging Het
Mrps22 A T 9: 98,480,359 (GRCm39) probably null Het
Mxd3 T C 13: 55,473,613 (GRCm39) T202A probably benign Het
Neb T C 2: 52,134,074 (GRCm39) H3303R possibly damaging Het
Nup133 G A 8: 124,657,721 (GRCm39) R405* probably null Het
Or13a19 T C 7: 139,902,681 (GRCm39) L23P probably benign Het
Or14j6 A G 17: 38,215,039 (GRCm39) T201A probably benign Het
Pard3b T C 1: 62,255,675 (GRCm39) Y629H probably benign Het
Pcnx1 A G 12: 82,033,446 (GRCm39) D1781G probably benign Het
Pcsk5 A T 19: 17,450,405 (GRCm39) C1148S probably damaging Het
Pcsk9 A T 4: 106,316,092 (GRCm39) I117N possibly damaging Het
Pcyt1b C A X: 92,789,970 (GRCm39) P318H probably damaging Het
Pfkfb2 T A 1: 130,634,221 (GRCm39) probably null Het
Pi4ka T C 16: 17,114,901 (GRCm39) E1456G possibly damaging Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Sh2b2 C T 5: 136,260,574 (GRCm39) C214Y probably damaging Het
Slc52a2 C A 15: 76,424,433 (GRCm39) P224T probably damaging Het
Slf2 C G 19: 44,923,920 (GRCm39) R245G probably benign Het
Sox5 T C 6: 143,779,193 (GRCm39) S648G probably damaging Het
Stk36 T A 1: 74,673,344 (GRCm39) I1079N probably benign Het
Stxbp3 T C 3: 108,708,188 (GRCm39) D371G probably damaging Het
Ubr5 C T 15: 38,038,211 (GRCm39) R316H probably damaging Het
Vmn1r230 C T 17: 21,067,515 (GRCm39) R235C probably benign Het
Wnt10a C T 1: 74,842,296 (GRCm39) H93Y unknown Het
Zfp1005 T A 2: 150,108,390 (GRCm39) H50Q possibly damaging Het
Zfp52 A G 17: 21,781,769 (GRCm39) D539G probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CTGCGCAGAAAACCTTAGTAACAG -3'
(R):5'- CGGGGCATGGTACTATTTCC -3'

Sequencing Primer
(F):5'- CACAGTCCTTGTCAGTGATGAAGC -3'
(R):5'- CGGGGCATGGTACTATTTCCATAAC -3'
Posted On 2015-10-08