Incidental Mutation 'R1734:Tmem260'
ID 199591
Institutional Source Beutler Lab
Gene Symbol Tmem260
Ensembl Gene ENSMUSG00000036339
Gene Name transmembrane protein 260
Synonyms 6720456H20Rik
MMRRC Submission 039766-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1734 (G1)
Quality Score 213
Status Validated
Chromosome 14
Chromosomal Location 48683581-48761703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 48746550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 609 (V609L)
Ref Sequence ENSEMBL: ENSMUSP00000154360 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111735] [ENSMUST00000124720] [ENSMUST00000153765] [ENSMUST00000226422] [ENSMUST00000227440]
AlphaFold Q8BMD6
Predicted Effect probably benign
Transcript: ENSMUST00000111735
AA Change: V609L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: V609L

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: V457L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: V457L

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 benign
Transcript: ENSMUST00000226422
AA Change: V609L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000227440
AA Change: V609L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0739 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 92.9%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,396,596 (GRCm39) C379S probably benign Het
Abca13 T C 11: 9,535,460 (GRCm39) C4695R probably benign Het
Actr10 T A 12: 71,008,770 (GRCm39) V401E probably benign Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Aimp1 A T 3: 132,380,557 (GRCm39) I59K probably damaging Het
Alms1 T A 6: 85,618,532 (GRCm39) probably null Het
Anln A T 9: 22,262,251 (GRCm39) S947T possibly damaging Het
Atp2c1 T C 9: 105,291,854 (GRCm39) T733A probably damaging Het
BC049715 C T 6: 136,817,306 (GRCm39) P182L probably damaging Het
Cblb T C 16: 52,006,603 (GRCm39) probably benign Het
Cep295 C T 9: 15,252,179 (GRCm39) E397K probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chac1 A T 2: 119,183,939 (GRCm39) L180F probably damaging Het
Cherp A T 8: 73,223,932 (GRCm39) probably null Het
Ckap4 A G 10: 84,363,738 (GRCm39) S442P probably benign Het
Clstn3 G A 6: 124,413,773 (GRCm39) probably benign Het
Crb2 T A 2: 37,683,668 (GRCm39) C1057S probably damaging Het
Dact2 T C 17: 14,416,901 (GRCm39) D433G probably benign Het
Dnah6 G A 6: 73,021,744 (GRCm39) T3526M probably damaging Het
Ethe1 A G 7: 24,307,809 (GRCm39) T210A probably benign Het
Fat2 A G 11: 55,172,197 (GRCm39) S2839P probably benign Het
Fbxl7 T C 15: 26,543,735 (GRCm39) Y304C probably damaging Het
Gad1-ps A T 10: 99,281,637 (GRCm39) noncoding transcript Het
Grm3 C T 5: 9,639,742 (GRCm39) R101K probably benign Het
Hspa12b A G 2: 130,980,456 (GRCm39) Y125C possibly damaging Het
Il10ra T C 9: 45,167,241 (GRCm39) T437A probably benign Het
Itprid2 G A 2: 79,488,166 (GRCm39) V750M probably damaging Het
Jcad T C 18: 4,674,526 (GRCm39) F763L probably damaging Het
Map3k10 T C 7: 27,357,540 (GRCm39) D746G probably damaging Het
Mettl9 T A 7: 120,647,064 (GRCm39) Y57N probably damaging Het
Nav2 G A 7: 49,225,468 (GRCm39) E1803K probably damaging Het
Nol11 G A 11: 107,066,449 (GRCm39) S447L possibly damaging Het
Or14a256 C T 7: 86,265,425 (GRCm39) V143M probably benign Het
Osbpl1a T C 18: 12,921,373 (GRCm39) probably null Het
Pde6a A G 18: 61,419,036 (GRCm39) N804S probably damaging Het
Pepd A T 7: 34,730,851 (GRCm39) D301V probably benign Het
Piwil2 A T 14: 70,663,954 (GRCm39) probably null Het
Plec C T 15: 76,070,418 (GRCm39) V931M probably damaging Het
Prrc2a A G 17: 35,369,683 (GRCm39) S1877P possibly damaging Het
Retreg2 G T 1: 75,119,630 (GRCm39) probably null Het
Slc7a11 G A 3: 50,326,795 (GRCm39) Q489* probably null Het
Sned1 G A 1: 93,187,490 (GRCm39) D256N probably damaging Het
Sphkap G A 1: 83,255,236 (GRCm39) R838* probably null Het
Spmip9 T A 6: 70,890,645 (GRCm39) Q49L probably benign Het
Syce2 G A 8: 85,613,776 (GRCm39) E168K probably benign Het
Trim35 A G 14: 66,546,778 (GRCm39) D515G probably damaging Het
Tspan5 T C 3: 138,603,901 (GRCm39) Y131H probably damaging Het
Ttbk2 T C 2: 120,586,319 (GRCm39) I466V probably benign Het
Ttn T C 2: 76,576,157 (GRCm39) D24912G probably damaging Het
Utp20 A T 10: 88,603,323 (GRCm39) N1843K probably damaging Het
Vmn1r20 A G 6: 57,409,285 (GRCm39) R204G probably damaging Het
Vps18 A T 2: 119,124,423 (GRCm39) Q450L probably benign Het
Zbtb4 A G 11: 69,667,289 (GRCm39) E198G 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
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
Predicted Primers PCR Primer
(F):5'- ACCACACAGTGATGAGCCTTTTCC -3'
(R):5'- GTGACACAACTGAATGCTCTCCCC -3'

Sequencing Primer
(F):5'- GTGATGAGCCTTTTCCCAAAAC -3'
(R):5'- CCATGTGTACTGCTAATGCTCAAG -3'
Posted On 2014-05-23