Incidental Mutation 'IGL02073:Tm7sf3'
ID185898
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? Possibly non essential (E-score: 0.265) question?
Stock #IGL02073
Quality Score
Status
Chromosome6
Chromosomal Location146602352-146642824 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146623710 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 79 (L79P)
Ref Sequence ENSEMBL: ENSMUSP00000045650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037709] [ENSMUST00000127529]
Predicted Effect possibly damaging
Transcript: ENSMUST00000037709
AA Change: L79P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045650
Gene: ENSMUSG00000040234
AA Change: L79P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147027
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vat1 A T 11: 101,460,579 M312K possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in Tm7sf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Tm7sf3 APN 6 146606194 missense possibly damaging 0.51
IGL01930:Tm7sf3 APN 6 146610933 missense possibly damaging 0.71
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