Incidental Mutation 'R6990:Tmem63a'
ID 543180
Institutional Source Beutler Lab
Gene Symbol Tmem63a
Ensembl Gene ENSMUSG00000026519
Gene Name transmembrane protein 63a
Synonyms
MMRRC Submission 045096-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R6990 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 180769909-180802677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180788686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 341 (V341A)
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: V341A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: V341A

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: ENSMUST00000161523
AA Change: V341A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: V341A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T G 10: 78,902,925 (GRCm39) T464P probably damaging Het
Abca16 A G 7: 120,126,950 (GRCm39) I1214V probably benign Het
Arap2 A G 5: 62,833,860 (GRCm39) F869S probably damaging Het
Astn2 G T 4: 65,910,540 (GRCm39) H431N possibly damaging Het
Bap1 A G 14: 30,977,608 (GRCm39) T308A probably benign Het
Bcr G A 10: 74,966,868 (GRCm39) E492K possibly damaging Het
Bltp3b A G 10: 89,641,979 (GRCm39) D1050G probably benign Het
Camta1 A G 4: 151,229,501 (GRCm39) F444L probably damaging Het
Chd7 A T 4: 8,844,525 (GRCm39) T1545S probably benign Het
Dnmt1 A T 9: 20,827,110 (GRCm39) Y877* probably null Het
Fam13b A G 18: 34,630,500 (GRCm39) V86A possibly damaging Het
Gm11562 T A 11: 99,510,817 (GRCm39) R128W unknown Het
Krt86 A G 15: 101,371,714 (GRCm39) I95V probably benign Het
Mroh2b A G 15: 4,942,284 (GRCm39) T349A possibly damaging Het
Ms4a7 A T 19: 11,310,605 (GRCm39) L38Q probably damaging Het
Myo1h T C 5: 114,468,221 (GRCm39) S339P probably damaging Het
Nf2 T C 11: 4,749,944 (GRCm39) I46V probably benign Het
Nr1h4 T C 10: 89,290,792 (GRCm39) D416G probably benign Het
Oga G A 19: 45,755,915 (GRCm39) A576V probably benign Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or4p18 A G 2: 88,232,639 (GRCm39) M213T probably benign Het
Pde1c C G 6: 56,419,020 (GRCm39) E87Q possibly damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pga5 A T 19: 10,646,779 (GRCm39) D317E probably benign Het
Pira2 T A 7: 3,844,067 (GRCm39) K568N probably damaging Het
Ppp2cb A G 8: 34,109,161 (GRCm39) D290G probably benign Het
Sall4 T C 2: 168,596,990 (GRCm39) K617E probably damaging Het
Slc7a14 G A 3: 31,277,728 (GRCm39) P626S possibly damaging Het
Speer4b A T 5: 27,702,076 (GRCm39) L228* probably null Het
Spns2 T C 11: 72,380,447 (GRCm39) T59A probably benign Het
Tbc1d5 A T 17: 51,275,260 (GRCm39) N78K probably benign Het
Trpt1 A G 19: 6,975,683 (GRCm39) T146A probably benign Het
Tyrp1 T C 4: 80,753,674 (GRCm39) C122R probably damaging Het
Uchl1 A G 5: 66,839,818 (GRCm39) E120G possibly damaging Het
Ucn3 C T 13: 3,991,295 (GRCm39) R119Q possibly damaging Het
Vmn2r2 T G 3: 64,024,608 (GRCm39) I658L probably benign Het
Vmn2r96 T A 17: 18,804,082 (GRCm39) V444E probably benign Het
Wdr54 A C 6: 83,132,629 (GRCm39) probably null Het
Xcr1 A G 9: 123,685,300 (GRCm39) L154P probably benign Het
Zbtb26 T C 2: 37,326,557 (GRCm39) K160E probably benign Het
Zfp157 T G 5: 138,454,772 (GRCm39) Y323* probably null Het
Zfp850 A T 7: 27,689,801 (GRCm39) F136I 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
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
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'- GTGAGACATTGCCATCTATCTGC -3'
(R):5'- CTTCCAGCTGTCACTCAGAC -3'

Sequencing Primer
(F):5'- GCCATCTATCTGCCTGGAG -3'
(R):5'- GTCACTCAGACATAAACTGGACTTC -3'
Posted On 2018-11-28