Incidental Mutation 'IGL02472:Tm6sf1'
ID 294796
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm6sf1
Ensembl Gene ENSMUSG00000038623
Gene Name transmembrane 6 superfamily member 1
Synonyms C630016D09Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # IGL02472
Quality Score
Status
Chromosome 7
Chromosomal Location 81508749-81534182 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 81525572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041890] [ENSMUST00000119543] [ENSMUST00000126334]
AlphaFold P58749
Predicted Effect probably benign
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 benign
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: ENSMUST00000130006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147977
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208201
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Inpp5j T C 11: 3,445,338 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R 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
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
R0108: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 2015-04-16