Incidental Mutation 'R0529:Tmem63a'
ID 49030
Institutional Source Beutler Lab
Gene Symbol Tmem63a
Ensembl Gene ENSMUSG00000026519
Gene Name transmembrane protein 63a
Synonyms
MMRRC Submission 038721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R0529 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180769909-180802677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180788659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 332 (E332V)
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: E332V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: E332V

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 probably benign
Transcript: ENSMUST00000161523
AA Change: E332V

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: E332V

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: ENSMUST00000161942
Meta Mutation Damage Score 0.1637 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 97% (58/60)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik G A 17: 9,211,228 (GRCm39) V126I probably benign Het
Aasdh A C 5: 77,024,114 (GRCm39) Y179* probably null Het
Afp A G 5: 90,652,254 (GRCm39) Y415C probably damaging Het
Aldh5a1 G T 13: 25,097,856 (GRCm39) T393K probably benign Het
Arhgef26 T C 3: 62,247,146 (GRCm39) S77P probably benign Het
Axl A G 7: 25,486,712 (GRCm39) probably benign Het
Card10 A G 15: 78,664,675 (GRCm39) probably null Het
Ccdc71l G A 12: 32,429,251 (GRCm39) S90N probably damaging Het
Cebpa A T 7: 34,819,624 (GRCm39) T261S probably benign Het
Cnmd T C 14: 79,879,481 (GRCm39) E219G probably benign Het
Cntln T A 4: 84,986,062 (GRCm39) L1010H probably damaging Het
Cul9 A G 17: 46,831,394 (GRCm39) probably benign Het
Cyld A G 8: 89,456,387 (GRCm39) E479G probably benign Het
Dmp1 A G 5: 104,360,092 (GRCm39) E256G probably benign Het
Dnmt1 T C 9: 20,822,846 (GRCm39) D1140G probably damaging Het
Drd2 A C 9: 49,318,374 (GRCm39) M439L probably benign Het
Drd3 G A 16: 43,643,077 (GRCm39) V438M probably damaging Het
Dyrk3 A G 1: 131,057,858 (GRCm39) I70T probably benign Het
Fbxo38 T C 18: 62,639,057 (GRCm39) K1082E probably damaging Het
Fbxw10 A C 11: 62,750,671 (GRCm39) D428A probably damaging Het
Fmn1 T A 2: 113,538,198 (GRCm39) probably benign Het
Fmnl2 A T 2: 52,932,377 (GRCm39) I119F probably damaging Het
Frmd4a A G 2: 4,610,834 (GRCm39) T995A probably damaging Het
Gda T A 19: 21,402,901 (GRCm39) I82F probably damaging Het
Gpatch4 T A 3: 87,958,583 (GRCm39) H22Q probably damaging Het
Gpr55 A G 1: 85,869,225 (GRCm39) F119L probably benign Het
Gtf2i A T 5: 134,290,723 (GRCm39) L425* probably null Het
Knstrn T A 2: 118,661,461 (GRCm39) probably benign Het
Lipo2 T A 19: 33,724,335 (GRCm39) I144L probably benign Het
Lrp1 T C 10: 127,377,463 (GRCm39) probably null Het
Mtmr14 T C 6: 113,243,213 (GRCm39) probably benign Het
Nsmce4a A T 7: 130,135,536 (GRCm39) S345R probably benign Het
Oacyl T A 18: 65,875,290 (GRCm39) V385D probably damaging Het
Or6k8-ps1 G A 1: 173,979,696 (GRCm39) A205T probably benign Het
Or8b52 A T 9: 38,576,808 (GRCm39) C111S probably benign Het
Phlpp2 T C 8: 110,603,603 (GRCm39) S55P probably benign Het
Pkhd1l1 T A 15: 44,390,150 (GRCm39) V1422E possibly damaging Het
Plcd3 T G 11: 102,971,013 (GRCm39) H181P probably benign Het
Psmc5 G A 11: 106,151,990 (GRCm39) probably null Het
Psmd11 T C 11: 80,361,515 (GRCm39) probably benign Het
Rab39 T C 9: 53,598,016 (GRCm39) Y83C probably damaging Het
Ric8a A G 7: 140,440,806 (GRCm39) E93G probably damaging Het
Rtp3 T C 9: 110,816,152 (GRCm39) E133G possibly damaging Het
Serpina1e A C 12: 103,915,363 (GRCm39) L281R probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Tent5c A G 3: 100,379,686 (GRCm39) Y357H probably benign Het
Tnk1 T C 11: 69,745,990 (GRCm39) T312A probably damaging Het
Traf3ip3 G T 1: 192,877,119 (GRCm39) probably benign Het
Trappc11 A G 8: 47,980,014 (GRCm39) V174A possibly damaging Het
Vmn1r174 G A 7: 23,453,622 (GRCm39) R96H probably benign Het
Vmn1r7 T A 6: 57,001,450 (GRCm39) Y270F possibly damaging Het
Vmn2r12 A G 5: 109,240,714 (GRCm39) V133A probably benign Het
Vmn2r18 T A 5: 151,485,988 (GRCm39) E502V probably damaging Het
Wipf3 C A 6: 54,462,348 (GRCm39) P186Q probably damaging Het
Yipf5 A T 18: 40,345,215 (GRCm39) M55K probably benign Het
Zbtb7a G A 10: 80,979,820 (GRCm39) V5M probably damaging Het
Zfy1 G T Y: 726,040 (GRCm39) S575Y 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
IGL01867:Tmem63a APN 1 180,783,570 (GRCm39) missense possibly damaging 0.87
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
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
Predicted Primers PCR Primer
(F):5'- GACATTGCCATCTATCTGCCTGGAG -3'
(R):5'- ATGTTACACGCAGAAGCCGGAG -3'

Sequencing Primer
(F):5'- TCTATCTGCCTGGAGCAGGG -3'
(R):5'- TGTCACTCAGACATAAACTGGACTTC -3'
Posted On 2013-06-12