Incidental Mutation 'R2413:Tmem63a'
ID 250048
Institutional Source Beutler Lab
Gene Symbol Tmem63a
Ensembl Gene ENSMUSG00000026519
Gene Name transmembrane protein 63a
Synonyms
MMRRC Submission 040377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R2413 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 180769909-180802677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180788640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 326 (M326V)
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: M326V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: M326V

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: M326V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: M326V

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G T 8: 89,036,446 (GRCm39) A168S probably benign Het
Aspm A C 1: 139,405,495 (GRCm39) I1461L probably damaging Het
Bcas3 C T 11: 85,422,681 (GRCm39) L517F probably damaging Het
Brpf3 T C 17: 29,024,924 (GRCm39) probably benign Het
Cfap74 A C 4: 155,503,081 (GRCm39) R24S possibly damaging Het
Clec1a T A 6: 129,412,218 (GRCm39) S51C probably damaging Het
Cyp2c40 G T 19: 39,792,331 (GRCm39) C204* probably null Het
Dgki C A 6: 36,824,408 (GRCm39) R1040L possibly damaging Het
F830016B08Rik T A 18: 60,433,365 (GRCm39) Y149* probably null Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Frmpd1 A T 4: 45,278,969 (GRCm39) T565S probably benign Het
Heatr5b A T 17: 79,064,290 (GRCm39) probably null Het
Ipcef1 G A 10: 6,885,225 (GRCm39) P92S probably damaging Het
Kctd12 T A 14: 103,219,603 (GRCm39) I92F probably damaging Het
Kntc1 C T 5: 123,902,212 (GRCm39) T285I probably benign Het
Lipo2 A T 19: 33,728,657 (GRCm39) N32K probably damaging Het
Mier3 T C 13: 111,851,662 (GRCm39) probably benign Het
Myd88 T C 9: 119,166,484 (GRCm39) T277A probably benign Het
Myo3a T A 2: 22,467,924 (GRCm39) Y1331N probably benign Het
Neb C A 2: 52,100,644 (GRCm39) W4422L probably damaging Het
Nfasc A G 1: 132,523,243 (GRCm39) S1019P probably damaging Het
Npepps T C 11: 97,131,792 (GRCm39) E354G probably damaging Het
Ntrk2 G T 13: 59,022,226 (GRCm39) R427L possibly damaging Het
Or51g1 A G 7: 102,634,009 (GRCm39) S121P probably damaging Het
Ptprd T A 4: 76,051,437 (GRCm39) D262V probably damaging Het
Serpina9 C T 12: 103,967,485 (GRCm39) probably null Het
Setd2 A G 9: 110,376,572 (GRCm39) E129G probably damaging Het
Slc29a1 A G 17: 45,896,643 (GRCm39) L444P probably damaging Het
Synj2 C A 17: 6,078,849 (GRCm39) P217T probably damaging Het
Tex52 T C 6: 128,356,871 (GRCm39) L188P probably damaging Het
Tnxb A G 17: 34,937,252 (GRCm39) T2900A 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
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
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'- TGCCATCTATCTGCCTGGAG -3'
(R):5'- CTTCCAGCTGTCACTCAGAC -3'

Sequencing Primer
(F):5'- ATAGGCAGGGGTCTGGG -3'
(R):5'- GTCACTCAGACATAAACTGGACTTC -3'
Posted On 2014-11-12