Incidental Mutation 'R5189:Tmem260'
ID 405071
Institutional Source Beutler Lab
Gene Symbol Tmem260
Ensembl Gene ENSMUSG00000036339
Gene Name transmembrane protein 260
Synonyms 6720456H20Rik
MMRRC Submission 042767-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5189 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 48683581-48761703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 48746573 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 616 (H616Q)
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: H616Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: H616Q

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: H464Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: H464Q

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: H616Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000227440
AA Change: H616Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik C T 12: 71,240,123 (GRCm39) T1311I possibly damaging Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
4930505A04Rik T C 11: 30,376,169 (GRCm39) T233A probably damaging Het
Ankar T C 1: 72,697,573 (GRCm39) I859V probably benign Het
Cacnb2 G T 2: 14,990,849 (GRCm39) A644S possibly damaging Het
Gatb T C 3: 85,544,238 (GRCm39) V402A probably benign Het
Gpcpd1 T C 2: 132,395,892 (GRCm39) K153R probably damaging Het
Hip1 A G 5: 135,463,147 (GRCm39) L60S probably damaging Het
Hsf4 GCAGCACCGGGTCA G 8: 105,998,060 (GRCm39) probably null Het
Hydin A T 8: 111,139,843 (GRCm39) probably null Het
Igsf3 A T 3: 101,338,843 (GRCm39) T386S possibly damaging Het
Il12rb1 A G 8: 71,263,702 (GRCm39) T88A possibly damaging Het
Kank1 T C 19: 25,401,545 (GRCm39) S1051P probably damaging Het
Kap A G 6: 133,828,879 (GRCm39) probably null Het
Ly96 A G 1: 16,771,091 (GRCm39) E74G probably damaging Het
Map7d1 G T 4: 126,136,097 (GRCm39) probably null Het
Megf6 G T 4: 154,336,980 (GRCm39) R253L probably benign Het
Mex3b A G 7: 82,518,459 (GRCm39) D258G probably damaging Het
Mpzl3 T C 9: 44,973,408 (GRCm39) I49T possibly damaging Het
Myh15 C A 16: 48,921,870 (GRCm39) T472N probably benign Het
Nacad A G 11: 6,551,611 (GRCm39) S527P probably damaging Het
Nkx2-3 T G 19: 43,601,147 (GRCm39) S70A probably benign Het
Nkx2-6 A T 14: 69,409,342 (GRCm39) Q31L probably benign Het
Or6ae1 A G 7: 139,742,632 (GRCm39) V77A probably damaging Het
Pcdha6 A T 18: 37,101,844 (GRCm39) N346Y probably damaging Het
Pkd2 G A 5: 104,607,785 (GRCm39) D95N probably benign Het
Pkhd1l1 A G 15: 44,410,544 (GRCm39) T2684A probably damaging Het
Plin2 A G 4: 86,575,383 (GRCm39) Y389H probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc41a2 T C 10: 83,149,275 (GRCm39) probably null Het
Smg6 A G 11: 74,932,822 (GRCm39) T1038A probably damaging Het
Suds3 T C 5: 117,238,664 (GRCm39) probably benign Het
Tbc1d8 T C 1: 39,424,213 (GRCm39) H626R probably benign Het
Trip10 A T 17: 57,568,288 (GRCm39) probably null Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 A G 4: 139,137,960 (GRCm39) T1106A probably benign Het
Vmn1r84 A T 7: 12,096,385 (GRCm39) S103T probably benign Het
Vps13a G T 19: 16,662,679 (GRCm39) P1602Q 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
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
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
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'- CACAGTGATGAGCCTTTTCCC -3'
(R):5'- GACCCTTAGCTTCAACACTGTTTG -3'

Sequencing Primer
(F):5'- GTGATGAGCCTTTTCCCAAAAC -3'
(R):5'- TGTGACACAACTGAATGCTCTC -3'
Posted On 2016-07-22