Incidental Mutation 'IGL01995:Tm9sf2'
ID 183651
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm9sf2
Ensembl Gene ENSMUSG00000025544
Gene Name transmembrane 9 superfamily member 2
Synonyms D14Ertd64e, P76, 1500001N15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.896) question?
Stock # IGL01995
Quality Score
Status
Chromosome 14
Chromosomal Location 122107038-122159604 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122143471 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 159 (T159S)
Ref Sequence ENSEMBL: ENSMUSP00000131227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026624] [ENSMUST00000171318]
AlphaFold P58021
Predicted Effect probably benign
Transcript: ENSMUST00000026624
AA Change: T324S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: T324S

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:EMP70 74 619 4.5e-209 PFAM
transmembrane domain 630 652 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171318
AA Change: T159S

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
AA Change: T159S

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
Pfam:EMP70 73 112 5.9e-9 PFAM
Pfam:EMP70 109 455 1e-172 PFAM
transmembrane domain 465 487 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,163,845 probably benign Het
AI661453 C A 17: 47,468,517 probably benign Het
Arhgap29 G A 3: 122,014,328 V1052I probably benign Het
Arhgef17 A G 7: 100,928,655 S1029P probably benign Het
Arpc5l T C 2: 39,008,214 S7P probably damaging Het
Asf1b A G 8: 83,955,904 I26V probably benign Het
Cep95 T C 11: 106,806,371 L240P probably damaging Het
Cnmd A G 14: 79,642,068 probably benign Het
Cntn3 T A 6: 102,203,885 N783I probably damaging Het
Col6a2 C A 10: 76,604,842 probably benign Het
Col9a2 T C 4: 121,050,410 probably null Het
Cry2 T C 2: 92,424,632 E126G probably benign Het
Cxcl15 T C 5: 90,794,608 V13A possibly damaging Het
Dbr1 A G 9: 99,583,899 D510G probably benign Het
Dct A G 14: 118,034,243 F392L probably damaging Het
Dgkz A G 2: 91,934,050 probably benign Het
Dhrs7b A G 11: 60,830,715 I2V probably benign Het
Efnb3 A T 11: 69,556,904 probably null Het
Fbf1 T A 11: 116,151,020 R565S probably null Het
Gimap5 T C 6: 48,752,793 I99T probably damaging Het
Gm9912 A G 3: 149,185,449 L16P unknown Het
Gpr17 A G 18: 31,947,134 L292P probably damaging Het
Hdac10 C T 15: 89,127,598 V129M probably damaging Het
Mfap3l A G 8: 60,671,464 I247V possibly damaging Het
Mtus1 A T 8: 41,084,420 S86R probably damaging Het
Mylk3 A G 8: 85,359,261 S55P possibly damaging Het
Nol6 A T 4: 41,118,567 C745S probably damaging Het
Nudt13 A T 14: 20,306,317 E103D probably damaging Het
Olfr1129 A G 2: 87,575,462 Y126C probably damaging Het
Olfr395 A G 11: 73,907,435 I19T possibly damaging Het
Pdzk1 G T 3: 96,857,371 A324S probably benign Het
Pofut2 T C 10: 77,260,681 V80A possibly damaging Het
Rasip1 A G 7: 45,636,816 D821G probably damaging Het
Rnf10 T A 5: 115,251,102 K273* probably null Het
Slc4a9 A G 18: 36,539,775 M811V possibly damaging Het
Smchd1 T C 17: 71,444,020 D301G probably damaging Het
Tom1l1 G A 11: 90,649,861 P327S probably damaging Het
Trim3 A G 7: 105,618,482 probably benign Het
Trpm6 A C 19: 18,830,327 probably benign Het
Ttc13 A C 8: 124,688,882 L245R probably damaging Het
Txnrd1 T A 10: 82,877,284 V60E probably damaging Het
Ung T A 5: 114,136,386 D173E probably benign Het
Zbtb5 A G 4: 44,995,294 V30A probably damaging Het
Other mutations in Tm9sf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Tm9sf2 APN 14 122143460 missense probably damaging 1.00
IGL02173:Tm9sf2 APN 14 122143423 missense probably benign 0.13
IGL02249:Tm9sf2 APN 14 122123750 missense probably damaging 1.00
IGL02328:Tm9sf2 APN 14 122143430 missense possibly damaging 0.79
IGL03231:Tm9sf2 APN 14 122141252 missense possibly damaging 0.95
R0367:Tm9sf2 UTSW 14 122155368 missense probably benign 0.06
R1959:Tm9sf2 UTSW 14 122126164 missense probably benign 0.42
R2251:Tm9sf2 UTSW 14 122139731 missense probably benign
R2504:Tm9sf2 UTSW 14 122158684 missense probably benign 0.01
R4791:Tm9sf2 UTSW 14 122139650 missense probably benign 0.00
R4795:Tm9sf2 UTSW 14 122149840 splice site probably null
R4851:Tm9sf2 UTSW 14 122141204 missense probably benign 0.00
R5063:Tm9sf2 UTSW 14 122145146 missense probably damaging 1.00
R5117:Tm9sf2 UTSW 14 122143501 missense probably benign 0.30
R5443:Tm9sf2 UTSW 14 122126195 missense probably damaging 0.97
R5677:Tm9sf2 UTSW 14 122151962 critical splice acceptor site probably null
R5966:Tm9sf2 UTSW 14 122137509 intron probably benign
R6465:Tm9sf2 UTSW 14 122141207 missense probably benign 0.16
R6873:Tm9sf2 UTSW 14 122145113 missense probably damaging 1.00
R7403:Tm9sf2 UTSW 14 122141228 missense probably benign 0.33
R7531:Tm9sf2 UTSW 14 122142412 missense possibly damaging 0.49
R8176:Tm9sf2 UTSW 14 122137501 missense probably benign 0.01
R8447:Tm9sf2 UTSW 14 122139768 missense probably damaging 1.00
R8773:Tm9sf2 UTSW 14 122143471 missense probably benign 0.21
R9039:Tm9sf2 UTSW 14 122126164 missense probably benign 0.42
Posted On 2014-05-07