Incidental Mutation 'R9384:Tmem260'
ID 710222
Institutional Source Beutler Lab
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 # R9384 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 48446124-48524246 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 48486819 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 223 (T223A)
Ref Sequence ENSEMBL: ENSMUSP00000118376 (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: T375A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: T375A

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: T223A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: T223A

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 probably benign
Transcript: ENSMUST00000226422
AA Change: T375A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000227440
AA Change: T375A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000228697
AA Change: T185A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T C 7: 131,302,675 V2374A unknown Het
A3galt2 G A 4: 128,762,058 C73Y probably damaging Het
Agrn C T 4: 156,172,649 A1213T probably damaging Het
Arhgef10 T C 8: 14,991,067 L1079P probably damaging Het
Ccdc129 A T 6: 55,975,628 Q852L probably damaging Het
Celsr1 G T 15: 86,033,085 S229* probably null Het
Colca2 T C 9: 51,272,338 N112S probably benign Het
Coro6 A G 11: 77,469,392 E436G probably benign Het
D430041D05Rik A G 2: 104,257,575 V352A probably benign Het
Dcbld2 C T 16: 58,465,563 T695I probably damaging Het
Dclk1 A C 3: 55,247,515 Q122P possibly damaging Het
Dsel C A 1: 111,860,133 E891* probably null Het
Eral1 A T 11: 78,078,304 N123K probably damaging Het
Fzd6 C A 15: 39,031,707 L423M probably damaging Het
Fzd6 T G 15: 39,031,708 L423R probably damaging Het
Galntl6 G T 8: 57,962,427 L231I probably damaging Het
Gm7137 A G 10: 77,787,780 S141P unknown Het
Grm5 T C 7: 88,074,310 Y603H probably damaging Het
Hcar2 A T 5: 123,864,534 F302Y probably benign Het
Hs3st1 T G 5: 39,614,619 D227A possibly damaging Het
Igkv7-33 G T 6: 70,059,190 Q4K possibly damaging Het
Kcp C T 6: 29,496,619 probably null Het
Lrrc23 T C 6: 124,778,226 K116R possibly damaging Het
Lrriq1 T A 10: 103,170,597 R1222S probably benign Het
Nav3 T A 10: 109,718,297 I1735F probably damaging Het
Neto1 A T 18: 86,395,840 probably benign Het
Nlrp9a T A 7: 26,558,733 L592Q probably damaging Het
Olfr1086 T A 2: 86,677,013 T107S probably benign Het
Olfr390 C A 11: 73,786,970 Q11K probably benign Het
Pcdhb20 T A 18: 37,504,971 H183Q probably benign Het
Pde4b A G 4: 102,255,251 T11A probably benign Het
Ptcd3 A G 6: 71,897,126 S234P possibly damaging Het
Rtn4 T C 11: 29,708,471 V875A probably benign Het
Slc12a8 T A 16: 33,646,577 C485S probably benign Het
Smc1b A G 15: 85,066,254 S1190P probably damaging Het
Sorbs2 A G 8: 45,805,827 R1134G probably benign Het
Sugt1 T C 14: 79,628,948 Y336H probably damaging Het
Tas2r134 A T 2: 51,628,022 Y171F probably damaging Het
Tdrd6 A T 17: 43,626,892 D1088E probably benign Het
Tgfbrap1 A T 1: 43,056,752 W509R probably damaging Het
Tmem115 T C 9: 107,534,543 V22A possibly damaging Het
Tmprss6 G A 15: 78,444,102 H565Y probably damaging Het
Ubr4 A G 4: 139,467,320 S1175G unknown Het
Uspl1 T C 5: 149,214,539 S850P probably benign Het
Vmn2r11 C A 5: 109,053,400 A413S probably damaging Het
Vmn2r19 T G 6: 123,315,964 S322A probably benign Het
Zfp606 T A 7: 12,494,008 C685* probably null 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
IGL01308:Tmem260 APN 14 48511958 missense probably damaging 1.00
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
Predicted Primers
Posted On 2022-04-18