Incidental Mutation 'IGL02073:Tm7sf3'
ID 185898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tm7sf3
Ensembl Gene ENSMUSG00000040234
Gene Name transmembrane 7 superfamily member 3
Synonyms 2010003B14Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL02073
Quality Score
Status
Chromosome 6
Chromosomal Location 146503774-146536103 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 146525208 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 156,914,039 (GRCm39) probably benign Het
6330409D20Rik T G 2: 32,630,698 (GRCm39) probably benign Het
Als2cl A G 9: 110,723,407 (GRCm39) K659E probably benign Het
Bbx G A 16: 50,022,854 (GRCm39) T702I probably damaging Het
Bcas3 A G 11: 85,448,263 (GRCm39) D405G probably damaging Het
Brpf3 A G 17: 29,026,370 (GRCm39) Y481C probably benign Het
Csnk1g1 T A 9: 65,909,533 (GRCm39) Y217N probably damaging Het
Cyp4f37 G T 17: 32,846,825 (GRCm39) V171L possibly damaging Het
Dock8 G A 19: 25,178,350 (GRCm39) probably null Het
Extl3 C A 14: 65,313,788 (GRCm39) G465W probably damaging Het
Fbxo10 A G 4: 45,046,349 (GRCm39) I587T possibly damaging Het
Fstl5 A C 3: 76,566,959 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,667,547 (GRCm39) N866S probably benign Het
Gm4871 T A 5: 144,969,388 (GRCm39) K44* probably null Het
Hnrnpul1 T C 7: 25,421,766 (GRCm39) probably benign Het
Jup A G 11: 100,274,215 (GRCm39) probably benign Het
Mccc2 A T 13: 100,136,783 (GRCm39) H57Q probably benign Het
Myo1a A T 10: 127,546,094 (GRCm39) D239V probably damaging Het
Ncapd3 T A 9: 26,974,612 (GRCm39) S695T probably benign Het
Ncor1 A T 11: 62,249,743 (GRCm39) S1052T probably damaging Het
Or5k8 A G 16: 58,644,169 (GRCm39) I301T probably benign Het
Or7g12 T A 9: 18,899,621 (GRCm39) N112K possibly damaging Het
Or8c10 C T 9: 38,279,603 (GRCm39) H244Y probably damaging Het
Pcnx3 A T 19: 5,729,414 (GRCm39) I526K probably damaging Het
Pcnx4 A G 12: 72,621,102 (GRCm39) D974G possibly damaging Het
Peg3 T C 7: 6,714,001 (GRCm39) E407G probably damaging Het
Polk A G 13: 96,641,059 (GRCm39) V166A probably damaging Het
Prkar2a A G 9: 108,610,322 (GRCm39) I184V probably damaging Het
Ptpra T C 2: 30,333,362 (GRCm39) S64P probably damaging Het
Rbsn A G 6: 92,166,340 (GRCm39) L768P probably damaging Het
Ripk3 C T 14: 56,023,482 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1b T C 11: 51,680,020 (GRCm39) probably benign Het
Slx A T X: 26,489,755 (GRCm39) W89R probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,070,104 (GRCm39) I2561V probably benign Het
Tasor2 T C 13: 3,624,721 (GRCm39) D1743G probably benign Het
Trub1 A T 19: 57,441,379 (GRCm39) M1L probably benign Het
Unc80 A G 1: 66,651,386 (GRCm39) D1577G possibly damaging Het
Vat1 A T 11: 101,351,405 (GRCm39) M312K possibly damaging Het
Vmn1r17 T C 6: 57,337,787 (GRCm39) I193V probably benign Het
Vps13b A G 15: 35,875,732 (GRCm39) I2706V possibly damaging Het
Wls T C 3: 159,612,890 (GRCm39) probably null Het
Zfp955b A G 17: 33,519,564 (GRCm39) T11A possibly damaging Het
Other mutations in Tm7sf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Tm7sf3 APN 6 146,507,692 (GRCm39) missense possibly damaging 0.51
IGL01930:Tm7sf3 APN 6 146,512,431 (GRCm39) missense possibly damaging 0.71
IGL02720:Tm7sf3 APN 6 146,514,872 (GRCm39) splice site probably benign
IGL02815:Tm7sf3 APN 6 146,514,971 (GRCm39) splice site probably null
IGL03255:Tm7sf3 APN 6 146,507,618 (GRCm39) unclassified probably benign
R0245:Tm7sf3 UTSW 6 146,520,107 (GRCm39) missense possibly damaging 0.53
R0402:Tm7sf3 UTSW 6 146,507,685 (GRCm39) missense possibly damaging 0.95
R0687:Tm7sf3 UTSW 6 146,523,388 (GRCm39) missense possibly damaging 0.96
R0763:Tm7sf3 UTSW 6 146,507,787 (GRCm39) missense possibly damaging 0.93
R1419:Tm7sf3 UTSW 6 146,505,475 (GRCm39) missense possibly damaging 0.71
R1511:Tm7sf3 UTSW 6 146,511,376 (GRCm39) missense probably benign 0.05
R4880:Tm7sf3 UTSW 6 146,511,358 (GRCm39) missense possibly damaging 0.93
R5930:Tm7sf3 UTSW 6 146,505,409 (GRCm39) missense possibly damaging 0.53
R6160:Tm7sf3 UTSW 6 146,507,787 (GRCm39) nonsense probably null
R6229:Tm7sf3 UTSW 6 146,514,887 (GRCm39) missense possibly damaging 0.71
R6755:Tm7sf3 UTSW 6 146,511,471 (GRCm39) splice site probably null
R6912:Tm7sf3 UTSW 6 146,527,601 (GRCm39) missense possibly damaging 0.91
R6920:Tm7sf3 UTSW 6 146,507,645 (GRCm39) missense possibly damaging 0.71
R8913:Tm7sf3 UTSW 6 146,527,621 (GRCm39) nonsense probably null
R9364:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9365:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9367:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9371:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9372:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9396:Tm7sf3 UTSW 6 146,523,472 (GRCm39) missense possibly damaging 0.53
R9447:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9449:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9450:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9451:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9454:Tm7sf3 UTSW 6 146,520,041 (GRCm39) missense probably benign 0.00
R9495:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9496:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9497:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9514:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9516:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9551:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9552:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9553:Tm7sf3 UTSW 6 146,525,179 (GRCm39) missense possibly damaging 0.85
R9576:Tm7sf3 UTSW 6 146,511,335 (GRCm39) missense probably damaging 1.00
R9652:Tm7sf3 UTSW 6 146,527,698 (GRCm39) missense probably benign
Posted On 2014-05-07