Incidental Mutation 'R0140:Tmem268'
ID 22243
Institutional Source Beutler Lab
Gene Symbol Tmem268
Ensembl Gene ENSMUSG00000045917
Gene Name transmembrane protein 268
Synonyms 6330416G13Rik
MMRRC Submission 038425-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R0140 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 4
Chromosomal Location 63477018-63504594 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 63496096 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 179 (R179H)
Ref Sequence ENSEMBL: ENSMUSP00000079211 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077709] [ENSMUST00000080336]
AlphaFold Q8R239
Predicted Effect possibly damaging
Transcript: ENSMUST00000077709
AA Change: R179H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000076891
Gene: ENSMUSG00000045917
AA Change: R179H

DomainStartEndE-ValueType
Pfam:DUF4481 39 328 4.2e-130 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000080336
AA Change: R179H

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000079211
Gene: ENSMUSG00000045917
AA Change: R179H

DomainStartEndE-ValueType
Pfam:DUF4481 38 328 4.4e-127 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency 98% (79/81)
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik T C 9: 124,057,789 (GRCm39) probably benign Het
9330161L09Rik T C 12: 103,373,587 (GRCm39) probably benign Het
Abca2 T G 2: 25,328,097 (GRCm39) probably null Het
Adgrf3 T C 5: 30,401,379 (GRCm39) K13R probably benign Het
Arhgap15 C A 2: 44,212,779 (GRCm39) F416L probably damaging Het
Arhgef26 C G 3: 62,355,666 (GRCm39) T746R probably benign Het
Aspm C T 1: 139,408,379 (GRCm39) T2422I probably benign Het
Atp4a C G 7: 30,419,526 (GRCm39) R659G probably benign Het
AY358078 T A 14: 52,063,399 (GRCm39) D348E probably benign Het
Blnk A T 19: 40,928,668 (GRCm39) S285T probably damaging Het
Calr3 C T 8: 73,188,732 (GRCm39) probably benign Het
Camsap2 A T 1: 136,208,120 (GRCm39) V1124D probably benign Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Ccdc69 C A 11: 54,941,325 (GRCm39) C196F possibly damaging Het
Cdhr3 T G 12: 33,130,412 (GRCm39) N141T probably benign Het
Cdk4 T C 10: 126,900,214 (GRCm39) V37A probably damaging Het
Celsr2 C T 3: 108,305,249 (GRCm39) R2110K probably benign Het
Clcn7 A G 17: 25,372,728 (GRCm39) Y437C probably damaging Het
Col6a6 A G 9: 105,579,474 (GRCm39) F1917S probably damaging Het
Cps1 T G 1: 67,219,275 (GRCm39) S872A probably benign Het
Crebbp G T 16: 3,935,363 (GRCm39) T842N probably damaging Het
Dennd2d G A 3: 106,399,799 (GRCm39) V234I probably benign Het
Fam227b T C 2: 125,966,523 (GRCm39) M130V possibly damaging Het
Fbxw24 G T 9: 109,434,482 (GRCm39) L373I possibly damaging Het
Fubp3 T C 2: 31,498,196 (GRCm39) Y359H probably damaging Het
Gm19684 T C 17: 36,438,319 (GRCm39) probably benign Het
Hrnr C T 3: 93,238,800 (GRCm39) Q3013* probably null Het
Il12rb1 T C 8: 71,272,415 (GRCm39) probably benign Het
Lepr A T 4: 101,625,264 (GRCm39) D473V probably damaging Het
Myof A T 19: 37,940,004 (GRCm39) Y820* probably null Het
Nfil3 G A 13: 53,121,681 (GRCm39) Q408* probably null Het
Nolc1 G A 19: 46,069,817 (GRCm39) probably benign Het
Npbwr1 A C 1: 5,986,840 (GRCm39) Y225D probably damaging Het
Nrip3 T C 7: 109,361,022 (GRCm39) probably benign Het
Ntrk1 A C 3: 87,685,875 (GRCm39) L749R probably damaging Het
Or10ag53 A G 2: 87,082,969 (GRCm39) I229M probably damaging Het
Or2b11 A G 11: 59,461,804 (GRCm39) L254P probably damaging Het
Or4c126 T A 2: 89,824,463 (GRCm39) V242D probably damaging Het
Or52a24 A G 7: 103,381,349 (GRCm39) D72G probably damaging Het
Or6c211 G T 10: 129,505,557 (GRCm39) T277N probably damaging Het
Paox A T 7: 139,713,971 (GRCm39) T244S probably damaging Het
Pcdhb9 T A 18: 37,536,014 (GRCm39) D669E possibly damaging Het
Pggt1b A G 18: 46,391,150 (GRCm39) probably null Het
Phkg1 T A 5: 129,893,449 (GRCm39) I334F probably benign Het
Phtf1 A T 3: 103,894,876 (GRCm39) R208W probably null Het
Pnliprp2 A T 19: 58,754,795 (GRCm39) I280F probably benign Het
Pnma8a A G 7: 16,694,147 (GRCm39) M1V probably null Het
Prcp A G 7: 92,577,819 (GRCm39) T328A probably damaging Het
Pxdn A G 12: 30,032,753 (GRCm39) E179G probably benign Het
Racgap1 A T 15: 99,521,532 (GRCm39) N541K probably benign Het
Rnf103 T A 6: 71,486,315 (GRCm39) F315L possibly damaging Het
Septin2 A G 1: 93,429,361 (GRCm39) R237G probably damaging Het
Setd6 T A 8: 96,442,737 (GRCm39) L58Q probably damaging Het
Sipa1l1 G A 12: 82,442,974 (GRCm39) V755I probably damaging Het
Slc16a12 G T 19: 34,650,104 (GRCm39) probably benign Het
Slk G A 19: 47,610,774 (GRCm39) D815N probably damaging Het
Stx1a T C 5: 135,074,439 (GRCm39) probably benign Het
Tbc1d15 T A 10: 115,056,124 (GRCm39) I283F probably damaging Het
Tenm4 T C 7: 96,545,259 (GRCm39) I2425T possibly damaging Het
Tle1 G A 4: 72,038,422 (GRCm39) H702Y probably damaging Het
Tmc6 A G 11: 117,657,077 (GRCm39) probably benign Het
Tmem9 A G 1: 135,961,900 (GRCm39) K165R probably damaging Het
Trpm6 A G 19: 18,796,558 (GRCm39) probably null Het
Tufm C T 7: 126,089,003 (GRCm39) P88S probably damaging Het
Ubqln1 A G 13: 58,341,103 (GRCm39) I216T probably damaging Het
Urad T G 5: 147,259,141 (GRCm39) M1L probably benign Het
Utp6 A G 11: 79,847,551 (GRCm39) probably benign Het
Vav2 C T 2: 27,163,688 (GRCm39) probably benign Het
Vmn2r55 G T 7: 12,402,104 (GRCm39) Q395K possibly damaging Het
Wwox T G 8: 115,433,027 (GRCm39) V231G probably damaging Het
Zfp646 T A 7: 127,482,678 (GRCm39) N1618K probably benign Het
Zzef1 G A 11: 72,790,377 (GRCm39) M2110I possibly damaging Het
Other mutations in Tmem268
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02887:Tmem268 APN 4 63,486,691 (GRCm39) splice site probably benign
R1473:Tmem268 UTSW 4 63,498,575 (GRCm39) missense probably damaging 0.99
R1816:Tmem268 UTSW 4 63,483,947 (GRCm39) missense possibly damaging 0.75
R1845:Tmem268 UTSW 4 63,498,180 (GRCm39) missense probably damaging 1.00
R3196:Tmem268 UTSW 4 63,496,149 (GRCm39) critical splice donor site probably null
R4296:Tmem268 UTSW 4 63,484,005 (GRCm39) critical splice donor site probably null
R4927:Tmem268 UTSW 4 63,502,164 (GRCm39) missense probably benign
R5023:Tmem268 UTSW 4 63,486,777 (GRCm39) missense probably damaging 1.00
R5057:Tmem268 UTSW 4 63,486,777 (GRCm39) missense probably damaging 1.00
R5946:Tmem268 UTSW 4 63,486,746 (GRCm39) missense probably damaging 1.00
R7138:Tmem268 UTSW 4 63,480,687 (GRCm39) start gained probably benign
R7577:Tmem268 UTSW 4 63,480,681 (GRCm39) start gained probably benign
R8188:Tmem268 UTSW 4 63,498,209 (GRCm39) missense probably damaging 0.97
R8428:Tmem268 UTSW 4 63,496,141 (GRCm39) missense probably damaging 1.00
R8675:Tmem268 UTSW 4 63,502,108 (GRCm39) missense probably damaging 1.00
R8773:Tmem268 UTSW 4 63,498,530 (GRCm39) missense probably benign 0.02
R8777:Tmem268 UTSW 4 63,496,076 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Tmem268 UTSW 4 63,496,076 (GRCm39) missense probably damaging 1.00
R9451:Tmem268 UTSW 4 63,488,256 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TCAATGGAGAGGCACAGGCACTAC -3'
(R):5'- TGCACGGGAACTTTGATTCCTACAG -3'

Sequencing Primer
(F):5'- CTCTCACACTGAATTTACCATAGGGG -3'
(R):5'- TCCTCAGGGAGAGGCTGAAC -3'
Posted On 2013-04-16