Incidental Mutation 'IGL01308:Tmem260'
ID 73540
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem260
Ensembl Gene ENSMUSG00000036339
Gene Name transmembrane protein 260
Synonyms 6720456H20Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01308
Quality Score
Status
Chromosome 14
Chromosomal Location 48446124-48524246 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48511958 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 638 (N638S)
Ref Sequence ENSEMBL: ENSMUSP00000154083 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226422] [ENSMUST00000227440]
AlphaFold Q8BMD6
Predicted Effect probably damaging
Transcript: ENSMUST00000111735
AA Change: N638S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: N638S

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:DUF2723 48 211 1.9e-43 PFAM
transmembrane domain 316 338 N/A INTRINSIC
transmembrane domain 353 372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000124720
AA Change: N486S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: N486S

DomainStartEndE-ValueType
Pfam:DUF2723 1 61 4.6e-9 PFAM
transmembrane domain 65 87 N/A INTRINSIC
transmembrane domain 164 186 N/A INTRINSIC
transmembrane domain 201 220 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153765
SMART Domains Protein: ENSMUSP00000116155
Gene: ENSMUSG00000036339

DomainStartEndE-ValueType
transmembrane domain 21 40 N/A INTRINSIC
Pfam:DUF2723 48 111 8.3e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226344
Predicted Effect probably damaging
Transcript: ENSMUST00000226422
AA Change: N638S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000227440
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 79,099,249 D1256G probably damaging Het
Acot7 A T 4: 152,260,896 M308L probably benign Het
Adarb2 A G 13: 8,203,293 R25G possibly damaging Het
Ano1 C A 7: 144,595,498 Q875H probably damaging Het
Ano6 G A 15: 95,913,661 probably null Het
Ehbp1 G A 11: 22,138,022 P354L probably damaging Het
Eml5 T C 12: 98,802,313 H1454R probably damaging Het
Esyt1 T A 10: 128,519,791 N421Y possibly damaging Het
Gen1 T C 12: 11,256,870 T100A probably damaging Het
Gm11639 A T 11: 104,720,697 D455V probably benign Het
Gm15292 C T 8: 21,250,418 T80I probably damaging Het
Jak3 A T 8: 71,685,166 D780V probably damaging Het
Klrb1a A G 6: 128,618,045 probably benign Het
Lrp8 A G 4: 107,864,076 I826M probably benign Het
Mcmbp G A 7: 128,714,485 Q214* probably null Het
Mtmr7 A T 8: 40,597,345 Y136N probably damaging Het
Ndor1 A G 2: 25,250,139 Y88H probably benign Het
Nkx2-4 A G 2: 147,084,340 Y201H possibly damaging Het
Olfr411 A G 11: 74,346,660 L308P probably damaging Het
Olfr503 T A 7: 108,544,726 L65* probably null Het
Olfr774 A T 10: 129,238,607 T153S probably benign Het
Pigg T C 5: 108,336,477 L663P probably damaging Het
Pik3cd A G 4: 149,657,460 V343A probably damaging Het
Plekha4 A G 7: 45,538,235 S244G probably damaging Het
Prkce T A 17: 86,625,462 D623E probably damaging Het
Rasgrf2 A G 13: 92,022,917 probably benign Het
Rexo5 T C 7: 119,834,276 W419R probably damaging Het
Rnaseh2b A G 14: 62,365,257 probably null Het
Rras A G 7: 45,021,285 Y193C possibly damaging Het
Sall4 T C 2: 168,750,244 I997V probably damaging Het
Sec31b A G 19: 44,523,683 F591L probably benign Het
Skiv2l A G 17: 34,840,634 L232P probably benign Het
Slc13a3 A T 2: 165,406,780 I526N probably damaging Het
Slc6a11 C T 6: 114,134,665 T103M probably damaging Het
Snrnp25 A G 11: 32,208,745 probably benign Het
Tex264 T C 9: 106,662,408 K201E possibly damaging Het
Tgfb1 G T 7: 25,688,017 R50L probably damaging Het
Tle4 A G 19: 14,468,261 V207A probably benign Het
Tmed1 A T 9: 21,510,042 C45* probably null Het
Traf3ip3 T C 1: 193,184,891 E274G probably damaging Het
Trak1 T C 9: 121,443,736 probably null Het
Trim3 A T 7: 105,617,469 V502E probably damaging Het
Trmo C T 4: 46,377,053 probably benign Het
Xab2 C T 8: 3,616,332 R192Q probably benign Het
Other mutations in Tmem260
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Tmem260 APN 14 48486879 missense probably benign 0.27
IGL00338:Tmem260 APN 14 48477636 missense probably damaging 0.97
IGL00508:Tmem260 APN 14 48509121 missense probably damaging 0.99
IGL01548:Tmem260 APN 14 48480325 missense possibly damaging 0.60
IGL01952:Tmem260 APN 14 48472476 missense probably damaging 1.00
IGL03068:Tmem260 APN 14 48486914 splice site probably benign
IGL03081:Tmem260 APN 14 48496293 missense probably benign 0.14
R0131:Tmem260 UTSW 14 48483322 nonsense probably null
R0131:Tmem260 UTSW 14 48483322 nonsense probably null
R0132:Tmem260 UTSW 14 48483322 nonsense probably null
R0149:Tmem260 UTSW 14 48452047 missense possibly damaging 0.88
R0361:Tmem260 UTSW 14 48452047 missense possibly damaging 0.88
R0396:Tmem260 UTSW 14 48486867 missense possibly damaging 0.83
R0524:Tmem260 UTSW 14 48472478 missense probably benign 0.00
R1734:Tmem260 UTSW 14 48509093 missense probably benign 0.00
R2152:Tmem260 UTSW 14 48477609 missense possibly damaging 0.62
R2474:Tmem260 UTSW 14 48496324 missense probably null 0.90
R2928:Tmem260 UTSW 14 48486750 missense probably damaging 1.00
R2999:Tmem260 UTSW 14 48484989 missense possibly damaging 0.92
R3030:Tmem260 UTSW 14 48485001 missense probably damaging 1.00
R4273:Tmem260 UTSW 14 48505304 missense probably benign 0.11
R4276:Tmem260 UTSW 14 48477636 missense probably damaging 0.97
R4277:Tmem260 UTSW 14 48477636 missense probably damaging 0.97
R4278:Tmem260 UTSW 14 48477636 missense probably damaging 0.97
R4791:Tmem260 UTSW 14 48511994 intron probably benign
R4792:Tmem260 UTSW 14 48511994 intron probably benign
R4810:Tmem260 UTSW 14 48472473 missense probably damaging 0.99
R5189:Tmem260 UTSW 14 48509116 missense probably benign 0.01
R5280:Tmem260 UTSW 14 48505259 missense probably benign 0.02
R5289:Tmem260 UTSW 14 48486810 missense possibly damaging 0.79
R5322:Tmem260 UTSW 14 48486849 missense probably damaging 0.99
R5491:Tmem260 UTSW 14 48512170 splice site probably null
R5593:Tmem260 UTSW 14 48474044 missense probably benign 0.38
R5606:Tmem260 UTSW 14 48484980 missense probably damaging 1.00
R5824:Tmem260 UTSW 14 48505328 missense probably damaging 1.00
R5947:Tmem260 UTSW 14 48486801 missense possibly damaging 0.93
R6587:Tmem260 UTSW 14 48496456 splice site probably null
R7234:Tmem260 UTSW 14 48505329 nonsense probably null
R7236:Tmem260 UTSW 14 48509190 splice site probably null
R7836:Tmem260 UTSW 14 48509062 missense probably benign 0.04
R8795:Tmem260 UTSW 14 48451913 missense probably damaging 1.00
R8895:Tmem260 UTSW 14 48500388 unclassified probably benign
R9056:Tmem260 UTSW 14 48480317 missense probably benign
R9096:Tmem260 UTSW 14 48520346 missense unknown
R9384:Tmem260 UTSW 14 48486819 missense probably benign 0.00
Posted On 2013-10-07