Incidental Mutation 'IGL01867:Tmem63a'
ID 178560
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 # IGL01867
Quality Score
Status
Chromosome 1
Chromosomal Location 180769909-180802677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180783570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 175 (Y175C)
Ref Sequence ENSEMBL: ENSMUSP00000124021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027800] [ENSMUST00000159436] [ENSMUST00000161523] [ENSMUST00000161847] [ENSMUST00000162283]
AlphaFold Q91YT8
Predicted Effect possibly damaging
Transcript: ENSMUST00000027800
AA Change: Y175C

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: Y175C

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 noncoding transcript
Transcript: ENSMUST00000128545
Predicted Effect silent
Transcript: ENSMUST00000159436
SMART Domains Protein: ENSMUSP00000125192
Gene: ENSMUSG00000026519

DomainStartEndE-ValueType
Pfam:RSN1_TM 50 173 2.5e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000161523
AA Change: Y175C

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: Y175C

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 probably benign
Transcript: ENSMUST00000161847
SMART Domains Protein: ENSMUSP00000124937
Gene: ENSMUSG00000026519

DomainStartEndE-ValueType
transmembrane domain 49 71 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161942
Predicted Effect probably benign
Transcript: ENSMUST00000162283
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,635,364 (GRCm39) E213G probably benign Het
Akap6 T C 12: 52,934,791 (GRCm39) L761P probably damaging Het
Bbs7 A C 3: 36,627,696 (GRCm39) L697R probably benign Het
Cd74 G A 18: 60,941,352 (GRCm39) R99H probably benign Het
Cpne6 A G 14: 55,751,137 (GRCm39) N182S probably benign Het
Cyp4f17 A G 17: 32,747,057 (GRCm39) H429R probably benign Het
Dact2 A T 17: 14,415,932 (GRCm39) M756K probably damaging Het
Ets1 A G 9: 32,645,455 (GRCm39) D234G probably damaging Het
Fat3 A C 9: 16,289,197 (GRCm39) S109A probably benign Het
Fras1 G T 5: 96,735,990 (GRCm39) M528I probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gtf3c1 A G 7: 125,261,548 (GRCm39) F1189L probably benign Het
Ift81 A T 5: 122,740,739 (GRCm39) probably benign Het
Insyn2b A G 11: 34,353,065 (GRCm39) E369G probably benign Het
Lag3 A G 6: 124,887,869 (GRCm39) S22P probably benign Het
Mos G T 4: 3,870,845 (GRCm39) Q324K probably benign Het
Mtx2 T A 2: 74,706,733 (GRCm39) V236E probably damaging Het
Naip6 T C 13: 100,436,820 (GRCm39) T568A probably benign Het
Or5k8 A G 16: 58,644,337 (GRCm39) F245S probably damaging Het
Or6c35 T A 10: 129,169,232 (GRCm39) L161M probably damaging Het
Or6c68 T C 10: 129,157,585 (GRCm39) I31T probably benign Het
Or6c88 G A 10: 129,406,696 (GRCm39) M57I possibly damaging Het
Or8b53 A C 9: 38,667,194 (GRCm39) D70A probably damaging Het
Pcid2 A G 8: 13,128,243 (GRCm39) V386A probably benign Het
Pde8b T C 13: 95,237,446 (GRCm39) D116G probably damaging Het
Plxnc1 A G 10: 94,634,008 (GRCm39) V1365A possibly damaging Het
Prex2 G T 1: 11,168,727 (GRCm39) C241F probably benign Het
Prr23a2 A G 9: 98,739,113 (GRCm39) E157G probably benign Het
Ptpn4 A T 1: 119,603,329 (GRCm39) H836Q probably benign Het
Ptprd C T 4: 76,161,884 (GRCm39) R117H probably damaging Het
Rab11fip4 T C 11: 79,574,216 (GRCm39) S102P probably benign Het
Slc44a1 G T 4: 53,536,405 (GRCm39) V194F probably damaging Het
Synm T A 7: 67,383,222 (GRCm39) H1480L probably benign Het
Trmt61a C T 12: 111,645,150 (GRCm39) R29C probably benign Het
Ubap1 C T 4: 41,379,236 (GRCm39) T150I probably benign Het
Uimc1 T C 13: 55,223,214 (GRCm39) M353V probably benign Het
Usp34 T C 11: 23,334,411 (GRCm39) M1135T possibly damaging Het
Vmn1r25 A C 6: 57,956,196 (GRCm39) L31R probably damaging Het
Wtap T C 17: 13,188,342 (GRCm39) E186G probably benign Het
Wwc2 T G 8: 48,336,615 (GRCm39) N216H probably benign Het
Zhx1 A T 15: 57,917,841 (GRCm39) M135K probably damaging 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
IGL02043:Tmem63a APN 1 180,800,353 (GRCm39) missense probably benign 0.11
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