Incidental Mutation 'IGL01930:Tm7sf3'
ID180416
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: 0.217) question?
Stock #IGL01930
Quality Score
Status
Chromosome6
Chromosomal Location146602352-146642824 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 146610933 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Serine at position 321 (I321S)
Ref Sequence ENSEMBL: ENSMUSP00000045650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037709] [ENSMUST00000127529]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037709
AA Change: I321S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: I321S

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810011H11Rik G A 14: 32,816,857 E92K probably benign Het
4930433N12Rik C T 9: 3,134,875 noncoding transcript Het
Acsf3 A G 8: 122,780,346 Y126C probably benign Het
Akr1c20 T A 13: 4,507,648 probably benign Het
Cdan1 T C 2: 120,726,582 probably benign Het
Cdc42bpg C T 19: 6,311,368 A308V probably damaging Het
Dek T C 13: 47,088,135 I318V probably benign Het
Dvl1 A G 4: 155,856,188 M422V possibly damaging Het
Erbin G A 13: 103,841,172 L626F probably damaging Het
Fa2h A T 8: 111,349,304 V229E possibly damaging Het
Gfpt1 T A 6: 87,059,415 H193Q possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gpr162 A G 6: 124,861,612 L25P possibly damaging Het
Hsd3b5 T C 3: 98,622,159 T52A probably benign Het
Megf8 T A 7: 25,334,861 V668D probably damaging Het
Olfr418 T C 1: 173,270,610 V145A probably benign Het
Prkdc A G 16: 15,698,887 T1042A probably damaging Het
Rasgrf2 A G 13: 91,982,738 S735P probably damaging Het
Serpina3n T A 12: 104,408,972 L101H probably damaging Het
Sipa1l2 T C 8: 125,419,239 D1674G probably damaging Het
Sval3 A G 6: 41,972,521 N98D probably benign Het
Tbc1d16 G A 11: 119,156,075 R449C possibly damaging Het
Trappc13 A G 13: 104,148,078 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdr60 A G 12: 116,225,963 probably null Het
Wdr76 A G 2: 121,510,822 D116G possibly damaging Het
Zscan18 T C 7: 12,775,348 probably benign Het
Other mutations in Tm7sf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Tm7sf3 APN 6 146606194 missense possibly damaging 0.51
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 On2014-05-07