Incidental Mutation 'IGL02043:Tmem63a'
ID 184828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem63a
Ensembl Gene ENSMUSG00000026519
Gene Name transmembrane protein 63a
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # IGL02043
Quality Score
Status
Chromosome 1
Chromosomal Location 180769909-180802677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 180800353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 714 (T714I)
Ref Sequence ENSEMBL: ENSMUSP00000124021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027800] [ENSMUST00000161523]
AlphaFold Q91YT8
Predicted Effect probably benign
Transcript: ENSMUST00000027800
AA Change: T714I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: T714I

DomainStartEndE-ValueType
Pfam:RSN1_TM 50 213 3.3e-24 PFAM
Pfam:PHM7_cyt 261 327 8.2e-12 PFAM
Pfam:RSN1_7TM 349 692 1.5e-87 PFAM
transmembrane domain 697 719 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154133
SMART Domains Protein: ENSMUSP00000114363
Gene: ENSMUSG00000038776

DomainStartEndE-ValueType
Pfam:EHN 1 37 1.2e-8 PFAM
Pfam:Abhydrolase_1 19 247 2.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161523
AA Change: T714I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: T714I

DomainStartEndE-ValueType
Pfam:RSN1_TM 50 213 3.6e-25 PFAM
Pfam:DUF4463 261 326 9.4e-15 PFAM
Pfam:DUF221 349 692 1.4e-87 PFAM
transmembrane domain 697 719 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191980
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp1b2 T C 11: 69,496,102 (GRCm39) T33A probably benign Het
Brd2 A T 17: 34,331,590 (GRCm39) probably benign Het
Carmil1 T C 13: 24,208,299 (GRCm39) probably benign Het
Cdh9 A T 15: 16,856,318 (GRCm39) D786V probably damaging Het
Cep128 A C 12: 91,233,504 (GRCm39) probably benign Het
Cep85 T C 4: 133,883,038 (GRCm39) T284A probably benign Het
Chrna1 C T 2: 73,398,450 (GRCm39) E330K probably benign Het
Clec2l T C 6: 38,653,785 (GRCm39) Y104H probably damaging Het
Clybl G T 14: 122,616,664 (GRCm39) K226N probably damaging Het
Cmip T A 8: 118,172,067 (GRCm39) D467E probably benign Het
Cpne3 A T 4: 19,543,340 (GRCm39) probably null Het
Crisp4 A G 1: 18,204,324 (GRCm39) V46A probably damaging Het
Csnk2a1 T C 2: 152,116,070 (GRCm39) Y261H probably damaging Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Czib T G 4: 107,752,065 (GRCm39) probably benign Het
Depdc7 T C 2: 104,560,626 (GRCm39) T123A probably benign Het
Edem2 T C 2: 155,547,661 (GRCm39) T384A probably damaging Het
F8 C T X: 74,376,247 (GRCm39) M377I probably benign Het
Fan1 T A 7: 64,021,367 (GRCm39) probably null Het
Fez2 T C 17: 78,689,051 (GRCm39) D366G probably damaging Het
Gm4841 A C 18: 60,404,037 (GRCm39) S19A probably benign Het
Gm4862 T A 3: 138,834,396 (GRCm39) noncoding transcript Het
Hk3 T A 13: 55,162,908 (GRCm39) Q44L probably damaging Het
Irgm1 C A 11: 48,757,642 (GRCm39) L56F probably damaging Het
Ldlr A G 9: 21,644,795 (GRCm39) T108A probably benign Het
Lgr4 T A 2: 109,841,635 (GRCm39) M516K probably damaging Het
Lrp1b T C 2: 40,587,537 (GRCm39) N3906S probably null Het
Lrrtm4 A G 6: 79,998,845 (GRCm39) N86D possibly damaging Het
Map3k2 A G 18: 32,340,587 (GRCm39) D198G probably damaging Het
Mapkapk3 C T 9: 107,139,621 (GRCm39) probably null Het
Mvp A T 7: 126,592,790 (GRCm39) Y374N probably damaging Het
Myo3a T C 2: 22,404,776 (GRCm39) S711P probably benign Het
Myom3 A G 4: 135,497,986 (GRCm39) K189E probably damaging Het
Naip1 T A 13: 100,563,304 (GRCm39) K620N probably benign Het
Nlrp10 T C 7: 108,524,709 (GRCm39) E257G probably damaging Het
Nptn T G 9: 58,548,012 (GRCm39) M139R possibly damaging Het
Nrk T G X: 137,889,544 (GRCm39) M1105R possibly damaging Het
Or10a3n A T 7: 108,493,046 (GRCm39) C189* probably null Het
Or10d4 T G 9: 39,580,374 (GRCm39) V7G probably damaging Het
Or1q1 T A 2: 36,887,477 (GRCm39) Y218* probably null Het
Pcdhb16 A G 18: 37,612,248 (GRCm39) T403A probably benign Het
Pcyt1b A G X: 92,745,722 (GRCm39) E50G possibly damaging Het
Pigg C T 5: 108,492,190 (GRCm39) T892I probably damaging Het
Ppig T G 2: 69,566,327 (GRCm39) probably null Het
Prr12 A G 7: 44,699,429 (GRCm39) probably benign Het
Slc5a5 G T 8: 71,345,073 (GRCm39) A78E possibly damaging Het
Slc7a2 T G 8: 41,364,095 (GRCm39) M436R probably benign Het
Sp7 T A 15: 102,267,690 (GRCm39) M39L probably benign Het
Spag8 T A 4: 43,653,134 (GRCm39) probably benign Het
Svep1 A G 4: 58,068,556 (GRCm39) S3077P probably benign Het
Tmem30a A T 9: 79,681,371 (GRCm39) probably benign Het
Trank1 T C 9: 111,193,028 (GRCm39) L535P probably damaging Het
Tuba8 A C 6: 121,197,470 (GRCm39) N44T probably benign Het
Wnk1 A G 6: 119,926,039 (GRCm39) probably benign Het
Zfp654 A T 16: 64,605,391 (GRCm39) I396K probably benign Het
Other mutations in Tmem63a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Tmem63a APN 1 180,790,653 (GRCm39) missense probably damaging 1.00
IGL00331:Tmem63a APN 1 180,794,062 (GRCm39) missense possibly damaging 0.46
IGL01116:Tmem63a APN 1 180,799,654 (GRCm39) missense probably damaging 0.96
IGL01368:Tmem63a APN 1 180,797,797 (GRCm39) missense possibly damaging 0.69
IGL01445:Tmem63a APN 1 180,774,196 (GRCm39) missense probably damaging 1.00
IGL01867:Tmem63a APN 1 180,783,570 (GRCm39) missense possibly damaging 0.87
IGL02453:Tmem63a APN 1 180,790,634 (GRCm39) missense probably benign 0.02
IGL02527:Tmem63a APN 1 180,780,539 (GRCm39) splice site probably null
IGL02811:Tmem63a APN 1 180,793,348 (GRCm39) missense probably damaging 0.99
IGL02975:Tmem63a APN 1 180,788,640 (GRCm39) missense probably benign
IGL03304:Tmem63a APN 1 180,796,418 (GRCm39) nonsense probably null
R0029:Tmem63a UTSW 1 180,790,031 (GRCm39) missense probably benign 0.01
R0029:Tmem63a UTSW 1 180,790,031 (GRCm39) missense probably benign 0.01
R0173:Tmem63a UTSW 1 180,782,363 (GRCm39) splice site probably benign
R0358:Tmem63a UTSW 1 180,783,988 (GRCm39) missense probably benign 0.17
R0436:Tmem63a UTSW 1 180,800,298 (GRCm39) missense probably benign 0.03
R0506:Tmem63a UTSW 1 180,785,614 (GRCm39) critical splice donor site probably null
R0513:Tmem63a UTSW 1 180,788,026 (GRCm39) missense probably benign 0.00
R0529:Tmem63a UTSW 1 180,788,659 (GRCm39) missense probably benign 0.09
R0855:Tmem63a UTSW 1 180,788,625 (GRCm39) missense possibly damaging 0.82
R1633:Tmem63a UTSW 1 180,776,391 (GRCm39) missense probably damaging 0.98
R2129:Tmem63a UTSW 1 180,793,105 (GRCm39) missense probably benign 0.00
R2212:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R2214:Tmem63a UTSW 1 180,788,679 (GRCm39) missense probably benign 0.00
R2413:Tmem63a UTSW 1 180,788,640 (GRCm39) missense probably benign
R2437:Tmem63a UTSW 1 180,790,054 (GRCm39) splice site probably null
R3703:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3704:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3705:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3714:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3746:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3747:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3961:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R3963:Tmem63a UTSW 1 180,790,679 (GRCm39) missense possibly damaging 0.48
R4675:Tmem63a UTSW 1 180,784,056 (GRCm39) missense probably benign 0.00
R4795:Tmem63a UTSW 1 180,782,416 (GRCm39) missense probably damaging 1.00
R4876:Tmem63a UTSW 1 180,800,751 (GRCm39) missense probably benign
R4916:Tmem63a UTSW 1 180,794,086 (GRCm39) missense probably benign 0.36
R4917:Tmem63a UTSW 1 180,794,086 (GRCm39) missense probably benign 0.36
R4918:Tmem63a UTSW 1 180,794,086 (GRCm39) missense probably benign 0.36
R5620:Tmem63a UTSW 1 180,797,811 (GRCm39) missense probably benign 0.00
R5843:Tmem63a UTSW 1 180,800,398 (GRCm39) critical splice donor site probably null
R5937:Tmem63a UTSW 1 180,788,716 (GRCm39) missense probably damaging 1.00
R6823:Tmem63a UTSW 1 180,788,035 (GRCm39) missense possibly damaging 0.60
R6990:Tmem63a UTSW 1 180,788,686 (GRCm39) missense probably benign 0.02
R7075:Tmem63a UTSW 1 180,788,714 (GRCm39) missense probably damaging 1.00
R7129:Tmem63a UTSW 1 180,782,441 (GRCm39) missense probably damaging 0.98
R7447:Tmem63a UTSW 1 180,785,588 (GRCm39) missense probably benign 0.04
R7609:Tmem63a UTSW 1 180,780,539 (GRCm39) splice site probably null
R8116:Tmem63a UTSW 1 180,788,048 (GRCm39) missense probably benign 0.04
R8141:Tmem63a UTSW 1 180,801,776 (GRCm39) missense probably benign 0.06
R8296:Tmem63a UTSW 1 180,788,685 (GRCm39) missense probably benign 0.36
R8770:Tmem63a UTSW 1 180,789,961 (GRCm39) missense probably benign 0.03
R9642:Tmem63a UTSW 1 180,776,393 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07