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
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL02472
Quality Score
Status
Chromosome 7
Chromosomal Location 81859001-81884434 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 81875824 bp (GRCm38)
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: 76,950,378 N158S probably damaging Het
Ankrd17 A C 5: 90,264,151 L1285V probably damaging Het
Atp8b2 G A 3: 89,954,239 T267I probably damaging Het
Becn1 C T 11: 101,291,398 G115D probably benign Het
Cd3eap T C 7: 19,359,105 D50G probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Chd6 A C 2: 160,984,452 probably benign Het
Col22a1 A G 15: 71,827,753 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnm2 A G 9: 21,485,708 I494V possibly damaging Het
Dock2 T A 11: 34,249,801 E1416D probably benign Het
Eif2ak1 A G 5: 143,884,883 H339R probably benign Het
Espnl C T 1: 91,340,534 P294L probably benign Het
Ftmt T A 18: 52,331,840 I76N possibly damaging Het
Gorasp2 T G 2: 70,676,459 probably benign Het
Hadhb T A 5: 30,184,063 M468K possibly damaging Het
Hfm1 A G 5: 106,873,928 probably benign Het
Inpp5j T C 11: 3,495,338 probably benign Het
Ipo7 T A 7: 110,040,853 F288I probably damaging Het
Kcnv1 T A 15: 45,109,123 K455* probably null Het
Kdm5a A G 6: 120,406,730 probably benign Het
Kmt2d G A 15: 98,850,077 S3122F probably benign Het
Kndc1 A G 7: 139,910,901 I440V probably benign Het
Mib2 T A 4: 155,656,746 I545F probably damaging Het
Nav2 C T 7: 49,546,041 P1055L probably damaging Het
Olfr111 C A 17: 37,530,749 F257L probably damaging Het
Olfr1257 T A 2: 89,881,411 I195N probably benign Het
Plch1 A T 3: 63,701,849 L65Q probably damaging Het
Ppp3ca A G 3: 136,921,862 I396V possibly damaging Het
Ryr1 A T 7: 29,040,844 N3917K probably damaging Het
Scn7a T C 2: 66,752,314 T80A probably damaging Het
Sema3f C T 9: 107,687,736 E307K probably damaging Het
Serpinb9b A T 13: 33,039,970 probably benign Het
Siglec15 T A 18: 78,043,617 K342N possibly damaging Het
Slc2a12 T C 10: 22,665,155 F303S probably damaging Het
Slc9c1 T C 16: 45,580,142 V705A probably benign Het
Tenm4 T C 7: 96,774,176 probably benign Het
Tmem245 T C 4: 56,899,119 Y269C probably damaging Het
Txndc2 A G 17: 65,637,976 I402T possibly damaging Het
Ube4b A G 4: 149,387,079 probably null Het
Usp28 T A 9: 49,037,769 Y863N possibly damaging Het
Vmn2r69 T C 7: 85,409,752 I534V probably benign Het
Wdr89 A T 12: 75,632,969 D170E probably damaging Het
Zfp280d C A 9: 72,301,711 N74K probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Tm6sf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02115:Tm6sf1 APN 7 81875803 missense probably damaging 1.00
IGL02145:Tm6sf1 APN 7 81863252 nonsense probably null
IGL02862:Tm6sf1 APN 7 81870756 missense probably damaging 0.98
R0083:Tm6sf1 UTSW 7 81865345 critical splice donor site probably null
R0108:Tm6sf1 UTSW 7 81865345 critical splice donor site probably null
R0661:Tm6sf1 UTSW 7 81865345 critical splice donor site probably null
R3019:Tm6sf1 UTSW 7 81876065 missense probably benign 0.01
R4562:Tm6sf1 UTSW 7 81859461 missense probably damaging 1.00
R4825:Tm6sf1 UTSW 7 81865260 missense probably damaging 0.97
R4851:Tm6sf1 UTSW 7 81865343 missense probably null 1.00
R5285:Tm6sf1 UTSW 7 81859452 missense possibly damaging 0.94
R6454:Tm6sf1 UTSW 7 81876053 missense probably damaging 1.00
R7624:Tm6sf1 UTSW 7 81868710 missense possibly damaging 0.82
Posted On 2015-04-16