Incidental Mutation 'IGL03081:Tmem260'
ID 417853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem260
Ensembl Gene ENSMUSG00000036339
Gene Name transmembrane protein 260
Synonyms 6720456H20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03081
Quality Score
Status
Chromosome 14
Chromosomal Location 48683581-48761703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 48733750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 216 (I216L)
Ref Sequence ENSEMBL: ENSMUSP00000153822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226422] [ENSMUST00000227440] [ENSMUST00000228697]
AlphaFold Q8BMD6
Predicted Effect probably benign
Transcript: ENSMUST00000111735
AA Change: I406L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: I406L

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 benign
Transcript: ENSMUST00000124720
AA Change: I254L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: I254L

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 noncoding transcript
Transcript: ENSMUST00000133744
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 probably benign
Transcript: ENSMUST00000226422
AA Change: I406L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000227440
AA Change: I406L

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000228697
AA Change: I216L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Eya1 A T 1: 14,253,415 (GRCm39) F520L possibly damaging Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Gp6 A G 7: 4,374,647 (GRCm39) S225P probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Nr5a1 A T 2: 38,600,544 (GRCm39) V41D possibly damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Scamp2 T C 9: 57,494,410 (GRCm39) V261A possibly damaging Het
Slc7a12 T A 3: 14,546,315 (GRCm39) F153L probably benign Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Stk40 A G 4: 126,017,507 (GRCm39) probably null Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K probably damaging Het
Other mutations in Tmem260
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Tmem260 APN 14 48,724,336 (GRCm39) missense probably benign 0.27
IGL00338:Tmem260 APN 14 48,715,093 (GRCm39) missense probably damaging 0.97
IGL00508:Tmem260 APN 14 48,746,578 (GRCm39) missense probably damaging 0.99
IGL01308:Tmem260 APN 14 48,749,415 (GRCm39) missense probably damaging 1.00
IGL01548:Tmem260 APN 14 48,717,782 (GRCm39) missense possibly damaging 0.60
IGL01952:Tmem260 APN 14 48,709,933 (GRCm39) missense probably damaging 1.00
IGL03068:Tmem260 APN 14 48,724,371 (GRCm39) splice site probably benign
R0131:Tmem260 UTSW 14 48,720,779 (GRCm39) nonsense probably null
R0131:Tmem260 UTSW 14 48,720,779 (GRCm39) nonsense probably null
R0132:Tmem260 UTSW 14 48,720,779 (GRCm39) nonsense probably null
R0149:Tmem260 UTSW 14 48,689,504 (GRCm39) missense possibly damaging 0.88
R0361:Tmem260 UTSW 14 48,689,504 (GRCm39) missense possibly damaging 0.88
R0396:Tmem260 UTSW 14 48,724,324 (GRCm39) missense possibly damaging 0.83
R0524:Tmem260 UTSW 14 48,709,935 (GRCm39) missense probably benign 0.00
R1734:Tmem260 UTSW 14 48,746,550 (GRCm39) missense probably benign 0.00
R2152:Tmem260 UTSW 14 48,715,066 (GRCm39) missense possibly damaging 0.62
R2474:Tmem260 UTSW 14 48,733,781 (GRCm39) missense probably null 0.90
R2928:Tmem260 UTSW 14 48,724,207 (GRCm39) missense probably damaging 1.00
R2999:Tmem260 UTSW 14 48,722,446 (GRCm39) missense possibly damaging 0.92
R3030:Tmem260 UTSW 14 48,722,458 (GRCm39) missense probably damaging 1.00
R4273:Tmem260 UTSW 14 48,742,761 (GRCm39) missense probably benign 0.11
R4276:Tmem260 UTSW 14 48,715,093 (GRCm39) missense probably damaging 0.97
R4277:Tmem260 UTSW 14 48,715,093 (GRCm39) missense probably damaging 0.97
R4278:Tmem260 UTSW 14 48,715,093 (GRCm39) missense probably damaging 0.97
R4791:Tmem260 UTSW 14 48,749,451 (GRCm39) intron probably benign
R4792:Tmem260 UTSW 14 48,749,451 (GRCm39) intron probably benign
R4810:Tmem260 UTSW 14 48,709,930 (GRCm39) missense probably damaging 0.99
R5189:Tmem260 UTSW 14 48,746,573 (GRCm39) missense probably benign 0.01
R5280:Tmem260 UTSW 14 48,742,716 (GRCm39) missense probably benign 0.02
R5289:Tmem260 UTSW 14 48,724,267 (GRCm39) missense possibly damaging 0.79
R5322:Tmem260 UTSW 14 48,724,306 (GRCm39) missense probably damaging 0.99
R5491:Tmem260 UTSW 14 48,749,627 (GRCm39) splice site probably null
R5593:Tmem260 UTSW 14 48,711,501 (GRCm39) missense probably benign 0.38
R5606:Tmem260 UTSW 14 48,722,437 (GRCm39) missense probably damaging 1.00
R5824:Tmem260 UTSW 14 48,742,785 (GRCm39) missense probably damaging 1.00
R5947:Tmem260 UTSW 14 48,724,258 (GRCm39) missense possibly damaging 0.93
R6587:Tmem260 UTSW 14 48,733,913 (GRCm39) splice site probably null
R7234:Tmem260 UTSW 14 48,742,786 (GRCm39) nonsense probably null
R7236:Tmem260 UTSW 14 48,746,647 (GRCm39) splice site probably null
R7836:Tmem260 UTSW 14 48,746,519 (GRCm39) missense probably benign 0.04
R8795:Tmem260 UTSW 14 48,689,370 (GRCm39) missense probably damaging 1.00
R8895:Tmem260 UTSW 14 48,737,845 (GRCm39) unclassified probably benign
R9056:Tmem260 UTSW 14 48,717,774 (GRCm39) missense probably benign
R9096:Tmem260 UTSW 14 48,757,803 (GRCm39) missense unknown
R9384:Tmem260 UTSW 14 48,724,276 (GRCm39) missense probably benign 0.00
R9634:Tmem260 UTSW 14 48,709,816 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02