Incidental Mutation 'R2849:Trnau1ap'
ID 251925
Institutional Source Beutler Lab
Gene Symbol Trnau1ap
Ensembl Gene ENSMUSG00000028898
Gene Name tRNA selenocysteine 1 associated protein 1
Synonyms 1110007F05Rik, SECp43, Trspap1
MMRRC Submission 040442-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R2849 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132039074-132056849 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 132049045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 119 (V119F)
Ref Sequence ENSEMBL: ENSMUSP00000030730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030730] [ENSMUST00000105960] [ENSMUST00000105962] [ENSMUST00000125513] [ENSMUST00000127402] [ENSMUST00000137520] [ENSMUST00000147652]
AlphaFold Q80VC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000030730
AA Change: V119F

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030730
Gene: ENSMUSG00000028898
AA Change: V119F

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
AA Change: V53F

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101580
Gene: ENSMUSG00000028898
AA Change: V53F

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
AA Change: V119F

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101582
Gene: ENSMUSG00000028898
AA Change: V119F

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: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G C 17: 24,508,481 (GRCm39) T1018R probably damaging Het
Abca8a T C 11: 109,932,931 (GRCm39) D1231G probably damaging Het
Adcy7 A G 8: 89,054,021 (GRCm39) I1017V probably benign Het
Agpat2 A G 2: 26,487,251 (GRCm39) I109T probably damaging Het
Aldh9a1 G A 1: 167,180,197 (GRCm39) R97H probably damaging Het
Als2 G A 1: 59,245,697 (GRCm39) T593M probably damaging Het
Ap3d1 G C 10: 80,577,742 (GRCm39) H28Q possibly damaging Het
Atxn1 A T 13: 45,720,175 (GRCm39) D573E probably damaging Het
Begain T A 12: 108,999,044 (GRCm39) M576L probably benign Het
Bod1l T C 5: 41,995,419 (GRCm39) N109S probably damaging Het
Boll A G 1: 55,385,532 (GRCm39) M131T possibly damaging Het
Celf2 T C 2: 6,608,936 (GRCm39) R282G probably damaging Het
Cers2 T C 3: 95,229,770 (GRCm39) F330L probably benign Het
Chst13 T C 6: 90,286,140 (GRCm39) D274G probably benign Het
Cimap1a A G 7: 140,429,182 (GRCm39) T156A probably benign Het
Cstdc5 T A 16: 36,187,814 (GRCm39) Q17L probably damaging Het
Dclk2 A G 3: 86,700,530 (GRCm39) V649A probably damaging Het
Deaf1 T C 7: 140,894,367 (GRCm39) *54W probably null Het
Fbf1 C T 11: 116,048,514 (GRCm39) probably null Het
Fbxo32 C T 15: 58,071,368 (GRCm39) S71N probably benign Het
Fbxo42 T A 4: 140,927,821 (GRCm39) N700K probably damaging Het
Fis1 T C 5: 136,991,971 (GRCm39) I55T possibly damaging Het
Fyco1 A T 9: 123,663,891 (GRCm39) L121* probably null Het
Gm2381 G A 7: 42,469,831 (GRCm39) P98S probably damaging Het
Grm7 G T 6: 110,623,309 (GRCm39) V161F probably damaging Het
Gtf2ird1 G A 5: 134,387,861 (GRCm39) T946I probably damaging Het
Hmcn1 G T 1: 150,439,350 (GRCm39) Y5494* probably null Het
Josd2 A G 7: 44,118,397 (GRCm39) probably null Het
Lfng T A 5: 140,597,622 (GRCm39) D149E probably damaging Het
Lrp1 C T 10: 127,378,165 (GRCm39) A4052T probably damaging Het
Lrrtm3 T C 10: 63,924,810 (GRCm39) N119S probably damaging Het
Lypd6 C T 2: 50,055,664 (GRCm39) P38L probably damaging Het
Msl3l2 T C 10: 55,991,538 (GRCm39) C88R probably benign Het
Nsd1 A G 13: 55,361,505 (GRCm39) T158A probably damaging Het
Nudt22 A T 19: 6,970,852 (GRCm39) S239R probably benign Het
Or4g7 T C 2: 111,309,699 (GRCm39) M190T probably benign Het
Or52r1c A T 7: 102,735,319 (GRCm39) D193V probably damaging Het
Osbpl8 T A 10: 111,105,297 (GRCm39) S251T probably benign Het
Otop3 T C 11: 115,235,384 (GRCm39) F339L probably damaging Het
Pcdhga10 T A 18: 37,881,253 (GRCm39) V338E possibly damaging Het
Pcnx2 A G 8: 126,487,666 (GRCm39) F1779S probably damaging Het
Plxna4 T C 6: 32,162,467 (GRCm39) K1349E probably damaging Het
Poteg A T 8: 27,971,704 (GRCm39) N406I probably benign Het
Ppp4r4 T C 12: 103,573,192 (GRCm39) V697A probably benign Het
Ptpra C A 2: 130,386,919 (GRCm39) H603Q probably benign Het
Rnf10 T C 5: 115,387,171 (GRCm39) D439G probably benign Het
Rnf43 T A 11: 87,623,093 (GRCm39) N731K probably benign Het
Slc2a4 T A 11: 69,836,997 (GRCm39) N116Y probably damaging Het
Slc6a15 C A 10: 103,240,552 (GRCm39) H392N probably benign Het
Slco6d1 C T 1: 98,394,441 (GRCm39) T375I probably benign Het
Smpd4 A G 16: 17,460,076 (GRCm39) D436G probably damaging Het
Spata22 G A 11: 73,244,571 (GRCm39) W311* probably null Het
Syt3 G A 7: 44,042,866 (GRCm39) V383I probably benign Het
Tle6 T A 10: 81,430,235 (GRCm39) I306F probably damaging Het
Tox3 G A 8: 90,975,018 (GRCm39) Q538* probably null Het
Trim24 T A 6: 37,933,388 (GRCm39) S656T probably damaging Het
Vmn1r181 G T 7: 23,683,943 (GRCm39) S136I possibly damaging Het
Vmn1r82 T C 7: 12,039,333 (GRCm39) V202A probably damaging Het
Zfp607b G A 7: 27,401,819 (GRCm39) V92I probably benign Het
Zfp964 G C 8: 70,116,504 (GRCm39) C368S unknown Het
Zw10 A G 9: 48,968,941 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- TGCGCAGAAAACCTTAGTAACAG -3'
(R):5'- ATTCGGGGCATGGTACTATTTCC -3'

Sequencing Primer
(F):5'- CACAGTCCTTGTCAGTGATGAAGC -3'
(R):5'- CGGGGCATGGTACTATTTCCATAAC -3'
Posted On 2014-12-04