Incidental Mutation 'R4278:Tmem260'
ID 322780
Institutional Source Beutler Lab
Gene Symbol Tmem260
Ensembl Gene ENSMUSG00000036339
Gene Name transmembrane protein 260
Synonyms 6720456H20Rik
MMRRC Submission 068968-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4278 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 48683581-48761703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48715093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 249 (T249M)
Ref Sequence ENSEMBL: ENSMUSP00000154360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226422] [ENSMUST00000227440] [ENSMUST00000228697]
AlphaFold Q8BMD6
Predicted Effect possibly damaging
Transcript: ENSMUST00000111735
AA Change: T249M

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: T249M

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 possibly damaging
Transcript: ENSMUST00000124720
AA Change: T97M

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: T97M

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 noncoding transcript
Transcript: ENSMUST00000226373
Predicted Effect possibly damaging
Transcript: ENSMUST00000226422
AA Change: T249M

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000227440
AA Change: T249M

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000228697
AA Change: T139M

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anln A G 9: 22,245,296 (GRCm39) probably null Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bltp3b T G 10: 89,642,571 (GRCm39) probably null Het
Capza3 T A 6: 139,987,786 (GRCm39) Y128* probably null Het
Ccdc187 T A 2: 26,172,239 (GRCm39) probably benign Het
Dpp4 T C 2: 62,209,667 (GRCm39) R119G probably damaging Het
Espn T C 4: 152,218,874 (GRCm39) D308G probably damaging Het
Gm9857 T C 3: 108,847,419 (GRCm39) probably benign Het
Hhatl G A 9: 121,613,285 (GRCm39) A470V probably benign Het
Igfals A T 17: 25,100,191 (GRCm39) E427D probably benign Het
Il22ra1 C T 4: 135,478,024 (GRCm39) A365V possibly damaging Het
Kctd6 G C 14: 8,222,806 (GRCm38) R216P probably damaging Het
Lama1 A T 17: 68,098,512 (GRCm39) M1864L probably null Het
Mbd5 T G 2: 49,162,305 (GRCm39) I37S probably damaging Het
Nsf C A 11: 103,821,632 (GRCm39) A5S probably damaging Het
Nsun5 A G 5: 135,398,914 (GRCm39) Y26C probably damaging Het
Or9q1 A G 19: 13,805,793 (GRCm39) probably benign Het
Pitpnm3 C T 11: 71,965,342 (GRCm39) V164I probably damaging Het
Plk2 A G 13: 110,532,637 (GRCm39) K117R probably benign Het
Ppp1r13b G T 12: 111,796,818 (GRCm39) N908K probably damaging Het
Rapgef4 T A 2: 72,028,739 (GRCm39) N385K possibly damaging Het
Rbp3 G A 14: 33,680,607 (GRCm39) V1070I probably benign Het
Rhbdd3 C T 11: 5,055,329 (GRCm39) T226I probably benign Het
Slc27a3 C T 3: 90,296,495 (GRCm39) probably benign Het
Slc30a2 G A 4: 134,073,360 (GRCm39) E136K probably null Het
Sptlc2 A C 12: 87,382,925 (GRCm39) I393R probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn1r80 G T 7: 11,927,454 (GRCm39) C188F probably benign Het
Vwa2 C A 19: 56,891,915 (GRCm39) Q283K probably benign Het
Zfp52 A G 17: 21,782,132 (GRCm39) K660R probably benign 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
IGL03081:Tmem260 APN 14 48,733,750 (GRCm39) missense probably benign 0.14
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
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
Predicted Primers PCR Primer
(F):5'- CAGCCTTAAGCAAACACATTTGATG -3'
(R):5'- ACACTCCCAGGGACTAATCTAG -3'

Sequencing Primer
(F):5'- TTTCGAAGTTCCAGGATGAATGGAC -3'
(R):5'- TCTAGTACCTAGAATGGCAGTGC -3'
Posted On 2015-06-20