Incidental Mutation 'IGL01952:Tmem260'
ID 181086
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 # IGL01952
Quality Score
Status
Chromosome 14
Chromosomal Location 48683581-48761703 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 48709933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 52 (A52V)
Ref Sequence ENSEMBL: ENSMUSP00000153822 (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: A162V

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000107364
Gene: ENSMUSG00000036339
AA Change: A162V

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: A10V

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118376
Gene: ENSMUSG00000036339
AA Change: A10V

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 possibly damaging
Transcript: ENSMUST00000226422
AA Change: A162V

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000227440
AA Change: A162V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000228697
AA Change: A52V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astl T C 2: 127,184,398 (GRCm39) probably null Het
Bod1l C T 5: 41,974,297 (GRCm39) C2339Y possibly damaging Het
Celsr1 T A 15: 85,847,424 (GRCm39) I1438F probably benign Het
Dbr1 T A 9: 99,464,465 (GRCm39) N297K possibly damaging Het
Dmxl1 A G 18: 50,023,721 (GRCm39) H1668R probably benign Het
Dnai3 T C 3: 145,802,918 (GRCm39) H91R probably damaging Het
Dnajb11 A G 16: 22,684,250 (GRCm39) E91G probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Grin2d C A 7: 45,511,704 (GRCm39) R247L probably benign Het
Gzf1 G A 2: 148,525,981 (GRCm39) A151T probably benign Het
Hacl1 C T 14: 31,363,079 (GRCm39) probably benign Het
Hivep2 C A 10: 14,018,075 (GRCm39) T1854K possibly damaging Het
Htr1d T C 4: 136,170,872 (GRCm39) V367A probably benign Het
Ifi208 T C 1: 173,506,597 (GRCm39) S127P possibly damaging Het
Ifngr2 C T 16: 91,356,876 (GRCm39) P137S probably damaging Het
Lcn9 T C 2: 25,714,550 (GRCm39) L138P probably damaging Het
Mdn1 T C 4: 32,723,657 (GRCm39) V2531A possibly damaging Het
Meioc A T 11: 102,563,011 (GRCm39) I70F possibly damaging Het
Mideas G A 12: 84,220,040 (GRCm39) P305S probably benign Het
Mlph A C 1: 90,861,193 (GRCm39) D276A probably benign Het
Myh1 T A 11: 67,111,218 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,444 (GRCm39) S265N probably benign Het
Ofcc1 G A 13: 40,434,337 (GRCm39) A22V probably damaging Het
Or11j4 T A 14: 50,630,860 (GRCm39) F216I probably benign Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Prlr A G 15: 10,328,428 (GRCm39) D301G possibly damaging Het
Ptk2 T C 15: 73,101,780 (GRCm39) E810G probably damaging Het
Slco1b2 T G 6: 141,616,956 (GRCm39) F430V probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Supt6 T C 11: 78,116,586 (GRCm39) K646R probably benign Het
Tmpo G A 10: 90,999,104 (GRCm39) R228C probably benign Het
Tulp1 G A 17: 28,575,398 (GRCm39) T103M probably damaging Het
Vwa5b1 G A 4: 138,308,528 (GRCm39) P770S probably benign Het
Zfp639 A G 3: 32,569,496 (GRCm39) Y18C 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
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
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 2014-05-07