Incidental Mutation 'R8675:Tmem106a'
ID 661352
Institutional Source Beutler Lab
Gene Symbol Tmem106a
Ensembl Gene ENSMUSG00000034947
Gene Name transmembrane protein 106A
Synonyms 0610008L10Rik
MMRRC Submission 068530-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R8675 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 101473068-101482612 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 101481222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 243 (Y243*)
Ref Sequence ENSEMBL: ENSMUSP00000045832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039581] [ENSMUST00000100403] [ENSMUST00000107194] [ENSMUST00000128614] [ENSMUST00000154147] [ENSMUST00000209862]
AlphaFold Q8VC04
Predicted Effect probably null
Transcript: ENSMUST00000039581
AA Change: Y243*
SMART Domains Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
AA Change: Y243*

DomainStartEndE-ValueType
Pfam:DUF1356 11 251 2.2e-89 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100403
AA Change: Y243*
SMART Domains Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
AA Change: Y243*

DomainStartEndE-ValueType
Pfam:DUF1356 24 251 1e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107194
SMART Domains Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947

DomainStartEndE-ValueType
Pfam:DUF1356 11 171 4.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128614
SMART Domains Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947

DomainStartEndE-ValueType
Pfam:DUF1356 11 156 8.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154147
Predicted Effect probably benign
Transcript: ENSMUST00000209862
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G T 17: 48,400,849 (GRCm39) E45* probably null Het
Abl2 T C 1: 156,452,909 (GRCm39) V148A probably damaging Het
Cacng7 G A 7: 3,385,221 (GRCm39) V41I probably benign Het
Clrn3 A G 7: 135,115,880 (GRCm39) S157P possibly damaging Het
Dsg2 T A 18: 20,734,975 (GRCm39) N984K possibly damaging Het
Fam83e A G 7: 45,373,293 (GRCm39) T220A probably benign Het
Frk A G 10: 34,484,493 (GRCm39) T489A probably benign Het
Gigyf2 T A 1: 87,331,438 (GRCm39) H195Q unknown Het
Gm49380 C T 9: 44,023,187 (GRCm39) A354T probably benign Het
Igfbpl1 T C 4: 45,813,469 (GRCm39) T249A possibly damaging Het
Il17ra T A 6: 120,458,949 (GRCm39) M700K probably benign Het
Il20 A T 1: 130,835,172 (GRCm39) W171R probably damaging Het
Mfsd4a T C 1: 131,986,926 (GRCm39) Y134C probably damaging Het
Mis12 A G 11: 70,916,500 (GRCm39) S178G probably benign Het
Pcdh1 A G 18: 38,332,229 (GRCm39) V397A probably damaging Het
Pcsk4 T C 10: 80,158,896 (GRCm39) Y499C probably damaging Het
Pgbd1 A G 13: 21,607,183 (GRCm39) L337P probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Pih1d1 A G 7: 44,803,806 (GRCm39) K22E unknown Het
Pkd1l1 A G 11: 8,798,916 (GRCm39) probably null Het
Pld2 A G 11: 70,445,713 (GRCm39) D649G probably null Het
Ralgapa1 T C 12: 55,785,002 (GRCm39) T753A possibly damaging Het
Rapgef5 T A 12: 117,547,782 (GRCm39) L141M probably damaging Het
Rasgrp4 G A 7: 28,842,452 (GRCm39) G242D probably damaging Het
Rnf213 T C 11: 119,346,984 (GRCm39) S3682P Het
Scnn1b A G 7: 121,498,474 (GRCm39) K5E probably damaging Het
Smbd1 T C 16: 32,625,340 (GRCm39) *142W probably null Het
Snrnp200 A G 2: 127,074,443 (GRCm39) T1428A possibly damaging Het
Speer1b C T 5: 11,823,973 (GRCm39) R174* probably null Het
Spire1 T C 18: 67,624,378 (GRCm39) T594A possibly damaging Het
Spta1 A G 1: 174,058,249 (GRCm39) T1906A probably benign Het
Stx16 T C 2: 173,934,255 (GRCm39) S152P probably benign Het
Tcp11 T A 17: 28,288,565 (GRCm39) Q331L probably benign Het
Tmem268 C T 4: 63,502,108 (GRCm39) T312M probably damaging Het
Ttc9 T G 12: 81,707,379 (GRCm39) V146G probably damaging Het
Ubr3 T A 2: 69,850,865 (GRCm39) I1758N probably damaging Het
Unc13a G A 8: 72,098,359 (GRCm39) T1142I probably benign Het
Vipr1 T C 9: 121,493,732 (GRCm39) L261P probably damaging Het
Vmn1r222 A T 13: 23,416,607 (GRCm39) V202E probably damaging Het
Zfp78 A G 7: 6,381,280 (GRCm39) N110S probably benign Het
Other mutations in Tmem106a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Tmem106a APN 11 101,481,240 (GRCm39) missense probably damaging 1.00
IGL02754:Tmem106a APN 11 101,481,219 (GRCm39) missense probably benign 0.12
IGL02967:Tmem106a APN 11 101,477,121 (GRCm39) missense possibly damaging 0.57
IGL03169:Tmem106a APN 11 101,481,284 (GRCm39) unclassified probably benign
R0100:Tmem106a UTSW 11 101,477,084 (GRCm39) missense probably benign 0.08
R0100:Tmem106a UTSW 11 101,477,084 (GRCm39) missense probably benign 0.08
R1499:Tmem106a UTSW 11 101,481,263 (GRCm39) missense possibly damaging 0.89
R1875:Tmem106a UTSW 11 101,477,204 (GRCm39) unclassified probably benign
R4843:Tmem106a UTSW 11 101,477,021 (GRCm39) unclassified probably benign
R6119:Tmem106a UTSW 11 101,474,576 (GRCm39) nonsense probably null
R8699:Tmem106a UTSW 11 101,473,120 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TATCTTGGCAGAGCAGGTAGC -3'
(R):5'- AGAAGCTCTGTGTGCTGAGG -3'

Sequencing Primer
(F):5'- CTCTCTGATTTTACCACAAGC -3'
(R):5'- CTGAGGGTGTTAGGGGAAGGC -3'
Posted On 2021-03-08