Incidental Mutation 'IGL00985:Tm7sf3'
ID27722
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm7sf3
Ensembl Gene ENSMUSG00000040234
Gene Nametransmembrane 7 superfamily member 3
Synonyms2010003B14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.211) question?
Stock #IGL00985
Quality Score
Status
Chromosome6
Chromosomal Location146602352-146642824 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 146606194 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 457 (V457I)
Ref Sequence ENSEMBL: ENSMUSP00000045650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037709] [ENSMUST00000127529]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037709
AA Change: V457I

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: V457I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:DUF4203 291 498 8.5e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127529
SMART Domains Protein: ENSMUSP00000118517
Gene: ENSMUSG00000040234

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630091E08Rik G T 7: 98,543,918 noncoding transcript Het
Abca15 G A 7: 120,397,018 G1389E probably damaging Het
Adcy3 T C 12: 4,134,600 V92A probably damaging Het
Aplnr A T 2: 85,137,663 Y344F probably benign Het
Atm A T 9: 53,459,816 V2241E probably damaging Het
Cep290 T C 10: 100,567,161 probably benign Het
Cnpy1 A T 5: 28,209,154 Y91* probably null Het
Cobl C A 11: 12,254,843 G613W probably damaging Het
Csn1s2a T C 5: 87,784,580 S121P possibly damaging Het
Doxl2 A G 6: 48,977,547 S540G probably benign Het
Fam129c T C 8: 71,604,863 probably benign Het
Fam198a T C 9: 121,978,335 L515P probably damaging Het
Flg2 A T 3: 93,203,278 Y871F unknown Het
Gapvd1 T A 2: 34,695,563 D1008V probably damaging Het
Igfl3 T C 7: 18,180,075 probably null Het
Kmt2b A T 7: 30,579,927 V1470E probably damaging Het
Mcc A T 18: 44,491,239 L413Q probably damaging Het
Mia2 G A 12: 59,188,360 G610D probably damaging Het
Mlst8 A T 17: 24,477,313 D147E probably damaging Het
Muc19 G T 15: 91,886,749 noncoding transcript Het
Mybpc3 A G 2: 91,135,359 E1172G probably benign Het
Nop14 A T 5: 34,644,789 L557Q probably damaging Het
P3h3 T C 6: 124,845,589 T540A probably benign Het
Phc3 T A 3: 30,914,197 I897F probably benign Het
Plekhh2 G A 17: 84,563,928 V205I probably benign Het
Poc5 A G 13: 96,410,746 K506E probably damaging Het
Pum1 C A 4: 130,743,789 T450K probably damaging Het
Retnlg G A 16: 48,874,325 R112H possibly damaging Het
Rgl2 T C 17: 33,932,101 V101A probably damaging Het
Serinc5 A G 13: 92,706,271 T410A probably damaging Het
Shroom1 T C 11: 53,465,969 V553A probably benign Het
Slco4c1 A T 1: 96,841,187 W317R probably damaging Het
Snap91 T C 9: 86,821,737 T268A probably benign Het
Supt16 T C 14: 52,161,691 K1044E possibly damaging Het
Tarbp1 A T 8: 126,459,161 L431I probably damaging Het
Tas2r124 C T 6: 132,755,529 T267I probably benign Het
Tmem132c A T 5: 127,504,866 S382C probably damaging Het
Tmprss7 C A 16: 45,662,322 C582F probably damaging Het
Tsc2 T C 17: 24,597,131 E1694G probably damaging Het
Txndc2 G T 17: 65,638,549 S211Y possibly damaging Het
Ubr3 A C 2: 70,003,431 T205P probably damaging Het
Vmn2r116 G A 17: 23,401,515 G741D probably damaging Het
Vps8 G A 16: 21,477,584 probably benign Het
Wdr19 G A 5: 65,252,299 D1127N probably benign Het
Zim1 T A 7: 6,682,760 Y83F possibly damaging Het
Other mutations in Tm7sf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01930:Tm7sf3 APN 6 146610933 missense possibly damaging 0.71
IGL02073:Tm7sf3 APN 6 146623710 missense possibly damaging 0.96
IGL02720:Tm7sf3 APN 6 146613374 splice site probably benign
IGL02815:Tm7sf3 APN 6 146613473 splice site probably null
IGL03255:Tm7sf3 APN 6 146606120 unclassified probably benign
R0245:Tm7sf3 UTSW 6 146618609 missense possibly damaging 0.53
R0402:Tm7sf3 UTSW 6 146606187 missense possibly damaging 0.95
R0687:Tm7sf3 UTSW 6 146621890 missense possibly damaging 0.96
R0763:Tm7sf3 UTSW 6 146606289 missense possibly damaging 0.93
R1419:Tm7sf3 UTSW 6 146603977 missense possibly damaging 0.71
R1511:Tm7sf3 UTSW 6 146609878 missense probably benign 0.05
R4880:Tm7sf3 UTSW 6 146609860 missense possibly damaging 0.93
R5930:Tm7sf3 UTSW 6 146603911 missense possibly damaging 0.53
R6160:Tm7sf3 UTSW 6 146606289 nonsense probably null
R6229:Tm7sf3 UTSW 6 146613389 missense possibly damaging 0.71
R6755:Tm7sf3 UTSW 6 146609973 splice site probably null
R6912:Tm7sf3 UTSW 6 146626103 missense possibly damaging 0.91
R6920:Tm7sf3 UTSW 6 146606147 missense possibly damaging 0.71
Posted On2013-04-17