Incidental Mutation 'R0108:Tm6sf1'
ID 17563
Institutional Source Beutler Lab
Gene Symbol Tm6sf1
Ensembl Gene ENSMUSG00000038623
Gene Name transmembrane 6 superfamily member 1
Synonyms C630016D09Rik
MMRRC Submission 038394-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0108 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 81508749-81534182 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 81515093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041890] [ENSMUST00000119543] [ENSMUST00000119543] [ENSMUST00000126334]
AlphaFold P58749
Predicted Effect probably null
Transcript: ENSMUST00000041890
SMART Domains Protein: ENSMUSP00000038017
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 63 82 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
transmembrane domain 139 161 N/A INTRINSIC
transmembrane domain 167 189 N/A INTRINSIC
Pfam:DUF2781 217 356 6.9e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119543
SMART Domains Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Pfam:DUF2781 126 267 9.7e-40 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119543
SMART Domains Protein: ENSMUSP00000112400
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 47 69 N/A INTRINSIC
transmembrane domain 76 98 N/A INTRINSIC
Pfam:DUF2781 126 267 9.7e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124616
Predicted Effect probably benign
Transcript: ENSMUST00000126334
SMART Domains Protein: ENSMUSP00000121292
Gene: ENSMUSG00000038623

DomainStartEndE-ValueType
transmembrane domain 5 27 N/A INTRINSIC
transmembrane domain 32 54 N/A INTRINSIC
transmembrane domain 63 82 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134861
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207657
Meta Mutation Damage Score 0.9494 question?
Coding Region Coverage
  • 1x: 87.1%
  • 3x: 81.7%
  • 10x: 58.7%
  • 20x: 25.7%
Validation Efficiency 90% (92/102)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,224,692 (GRCm39) N910K probably benign Het
Ackr4 T A 9: 103,976,387 (GRCm39) I187F probably benign Het
Adamts12 T C 15: 11,311,184 (GRCm39) V1147A probably benign Het
Adcy2 A T 13: 68,800,054 (GRCm39) V858E probably damaging Het
Adgrv1 A G 13: 81,726,523 (GRCm39) probably benign Het
Atg4c C T 4: 99,109,677 (GRCm39) H215Y possibly damaging Het
Ccdc88a T A 11: 29,453,463 (GRCm39) S337T probably damaging Het
Evpl T C 11: 116,111,702 (GRCm39) E1996G probably damaging Het
Fbxw10 A G 11: 62,767,887 (GRCm39) T903A probably benign Het
Frem2 G T 3: 53,555,382 (GRCm39) D1718E probably benign Het
Gatad2b T A 3: 90,265,250 (GRCm39) Y576N probably damaging Het
Gm136 G T 4: 34,746,593 (GRCm39) H139Q possibly damaging Het
Helq C A 5: 100,916,234 (GRCm39) E913* probably null Het
Itgb7 C T 15: 102,131,917 (GRCm39) R222H probably damaging Het
Lmtk2 C T 5: 144,111,103 (GRCm39) R608C possibly damaging Het
Lonp2 G A 8: 87,442,983 (GRCm39) V815I probably benign Het
Mpdz C T 4: 81,300,042 (GRCm39) V319I probably damaging Het
Ntng1 T C 3: 109,759,071 (GRCm39) probably benign Het
Nup210l A G 3: 90,096,882 (GRCm39) T1364A probably damaging Het
Or10q1b A T 19: 13,683,042 (GRCm39) T284S probably damaging Het
Pcdha1 T A 18: 37,131,809 (GRCm39) W293R probably benign Het
Plcl1 A G 1: 55,737,098 (GRCm39) Y813C possibly damaging Het
Plekho2 A T 9: 65,466,705 (GRCm39) D128E probably damaging Het
Pstpip1 A G 9: 56,035,050 (GRCm39) E341G probably benign Het
Rps6ka2 G A 17: 7,563,442 (GRCm39) D617N probably benign Het
Scin A G 12: 40,177,986 (GRCm39) V83A possibly damaging Het
Sec11a A G 7: 80,584,787 (GRCm39) V50A probably damaging Het
Sel1l3 C T 5: 53,295,244 (GRCm39) A786T possibly damaging Het
Shroom1 T C 11: 53,357,764 (GRCm39) S772P possibly damaging Het
Slc30a5 G T 13: 100,939,908 (GRCm39) A669E probably damaging Het
Ttll4 G T 1: 74,718,928 (GRCm39) V260L probably benign Het
Zfand3 A G 17: 30,354,372 (GRCm39) E63G probably damaging Het
Other mutations in Tm6sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02115:Tm6sf1 APN 7 81,525,551 (GRCm39) missense probably damaging 1.00
IGL02145:Tm6sf1 APN 7 81,513,000 (GRCm39) nonsense probably null
IGL02472:Tm6sf1 APN 7 81,525,572 (GRCm39) splice site probably benign
IGL02862:Tm6sf1 APN 7 81,520,504 (GRCm39) missense probably damaging 0.98
R0083:Tm6sf1 UTSW 7 81,515,093 (GRCm39) critical splice donor site probably null
R0661:Tm6sf1 UTSW 7 81,515,093 (GRCm39) critical splice donor site probably null
R3019:Tm6sf1 UTSW 7 81,525,813 (GRCm39) missense probably benign 0.01
R4562:Tm6sf1 UTSW 7 81,509,209 (GRCm39) missense probably damaging 1.00
R4825:Tm6sf1 UTSW 7 81,515,008 (GRCm39) missense probably damaging 0.97
R4851:Tm6sf1 UTSW 7 81,515,091 (GRCm39) missense probably null 1.00
R5285:Tm6sf1 UTSW 7 81,509,200 (GRCm39) missense possibly damaging 0.94
R6454:Tm6sf1 UTSW 7 81,525,801 (GRCm39) missense probably damaging 1.00
R7624:Tm6sf1 UTSW 7 81,518,458 (GRCm39) missense possibly damaging 0.82
Posted On 2013-01-31