Incidental Mutation 'R4917:Tmem63a'
ID 378256
Institutional Source Beutler Lab
Gene Symbol Tmem63a
Ensembl Gene ENSMUSG00000026519
Gene Name transmembrane protein 63a
Synonyms
MMRRC Submission 042519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R4917 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 180769909-180802677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 180794086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 541 (I541N)
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: I541N

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027800
Gene: ENSMUSG00000026519
AA Change: I541N

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: I541N

PolyPhen 2 Score 0.360 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000124021
Gene: ENSMUSG00000026519
AA Change: I541N

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
Meta Mutation Damage Score 0.5034 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (111/114)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,658,996 (GRCm39) V2783I probably benign Het
Ago4 A C 4: 126,400,635 (GRCm39) C693G probably damaging Het
Apobec2 T C 17: 48,730,153 (GRCm39) E171G probably benign Het
Arfgef3 T A 10: 18,492,638 (GRCm39) I1258F probably damaging Het
Arhgef40 A G 14: 52,227,556 (GRCm39) E434G probably damaging Het
Bcas1 T C 2: 170,220,806 (GRCm39) D324G probably damaging Het
Bdp1 A T 13: 100,191,713 (GRCm39) V1422E probably damaging Het
Bfsp1 C T 2: 143,669,391 (GRCm39) R396Q probably benign Het
Bpifb9b T A 2: 154,156,026 (GRCm39) probably null Het
Cacna1s T A 1: 136,029,302 (GRCm39) probably null Het
Casp8 T C 1: 58,866,377 (GRCm39) F126S probably damaging Het
Cdh26 T C 2: 178,091,614 (GRCm39) S58P probably benign Het
Cds2 A G 2: 132,140,398 (GRCm39) T182A probably damaging Het
Cfap157 C T 2: 32,669,965 (GRCm39) R206H probably benign Het
Col7a1 G A 9: 108,795,532 (GRCm39) G1529E unknown Het
Crybg3 A G 16: 59,350,782 (GRCm39) F2567L probably benign Het
Cyp2e1 T C 7: 140,354,527 (GRCm39) S393P possibly damaging Het
D5Ertd579e A G 5: 36,773,160 (GRCm39) Y412H probably damaging Het
Dclk2 A T 3: 86,732,049 (GRCm39) probably null Het
Ddx50 A T 10: 62,463,450 (GRCm39) C414* probably null Het
Dip2c T A 13: 9,671,905 (GRCm39) probably null Het
Dmtn G T 14: 70,843,159 (GRCm39) P283Q probably damaging Het
Dspp C A 5: 104,325,789 (GRCm39) D717E unknown Het
Efcab11 T C 12: 99,685,321 (GRCm39) D151G probably damaging Het
Egfem1 T C 3: 29,206,042 (GRCm39) V93A probably damaging Het
Ehbp1 T C 11: 22,096,592 (GRCm39) D299G probably benign Het
Erlec1 A G 11: 30,884,710 (GRCm39) Y448H possibly damaging Het
Fer1l4 T C 2: 155,873,220 (GRCm39) K1287E probably benign Het
Fn1 A T 1: 71,634,968 (GRCm39) probably null Het
Fut8 G T 12: 77,521,818 (GRCm39) A486S probably damaging Het
Gfra1 A T 19: 58,255,522 (GRCm39) S308R probably damaging Het
Gm10764 A G 10: 87,126,579 (GRCm39) noncoding transcript Het
Gm5958 C A 14: 100,073,189 (GRCm39) noncoding transcript Het
Gm6788 C T 19: 28,740,664 (GRCm39) noncoding transcript Het
Gsdmd A G 15: 75,736,241 (GRCm39) I123M probably benign Het
H2bc13 A T 13: 21,900,189 (GRCm39) V42E probably damaging Het
Hsf4 A G 8: 105,999,367 (GRCm39) E235G probably benign Het
Ighv1-83 T C 12: 115,927,580 (GRCm39) I57V probably benign Het
Inhca A C 9: 103,129,054 (GRCm39) Y235* probably null Het
Inpp5f A T 7: 128,286,840 (GRCm39) D573V probably damaging Het
Kcnj1 T A 9: 32,308,056 (GRCm39) L160Q probably damaging Het
Kcnmb3 A T 3: 32,526,653 (GRCm39) C179* probably null Het
Lrig1 A G 6: 94,586,700 (GRCm39) F659L probably damaging Het
Lrrc3 T C 10: 77,737,253 (GRCm39) D61G probably benign Het
Marchf4 T G 1: 72,467,938 (GRCm39) S365R probably benign Het
Mccc1 A G 3: 36,051,703 (GRCm39) L32S probably benign Het
Mei4 A G 9: 81,772,216 (GRCm39) T10A probably benign Het
Meis1 T C 11: 18,959,222 (GRCm39) probably benign Het
Mllt1 T C 17: 57,206,813 (GRCm39) T344A probably benign Het
Mmp11 C T 10: 75,761,419 (GRCm39) A31T probably damaging Het
Mrps28 A G 3: 8,947,614 (GRCm39) probably benign Het
Mthfsl A C 9: 88,597,550 (GRCm39) L67V probably damaging Het
Ncaph2 A G 15: 89,244,574 (GRCm39) I11V probably damaging Het
Ncdn G A 4: 126,643,731 (GRCm39) L364F possibly damaging Het
Nfat5 T A 8: 108,051,284 (GRCm39) D47E probably damaging Het
Or51g2 A T 7: 102,622,614 (GRCm39) I195N possibly damaging Het
Or5b106 T A 19: 13,123,355 (GRCm39) I223L possibly damaging Het
Or5bw2 C T 7: 6,573,643 (GRCm39) L218F possibly damaging Het
Pcdhb3 A T 18: 37,435,452 (GRCm39) I473F probably damaging Het
Pcdhgb8 A T 18: 37,897,191 (GRCm39) N754Y probably damaging Het
Pgbd5 C A 8: 125,097,305 (GRCm39) K408N probably benign Het
Pnisr A G 4: 21,859,330 (GRCm39) probably benign Het
Poldip3 A T 15: 83,016,776 (GRCm39) probably null Het
Ppfia2 G C 10: 106,597,978 (GRCm39) L180F probably damaging Het
Psmc3 A G 2: 90,896,317 (GRCm39) probably benign Het
Rab3gap1 T A 1: 127,816,914 (GRCm39) W58R possibly damaging Het
Rere T A 4: 150,703,601 (GRCm39) W1528R probably damaging Het
Rhot1 A G 11: 80,100,027 (GRCm39) probably benign Het
Rsf1 T C 7: 97,311,612 (GRCm39) S781P probably damaging Het
Rtraf T C 14: 19,873,784 (GRCm39) K5R probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A G 13: 11,609,872 (GRCm39) V753A probably damaging Het
Ryr3 T C 2: 112,661,530 (GRCm39) H1820R probably damaging Het
Schip1 A T 3: 68,315,818 (GRCm39) probably benign Het
Scin T A 12: 40,119,373 (GRCm39) I552F possibly damaging Het
Selp A C 1: 163,972,475 (GRCm39) T705P probably damaging Het
Sh3rf3 A T 10: 58,842,925 (GRCm39) D297V probably damaging Het
Slc24a4 T A 12: 102,231,203 (GRCm39) probably null Het
Slc2a9 C A 5: 38,574,603 (GRCm39) L224F probably benign Het
Slc35e2 C A 4: 155,700,693 (GRCm39) P272Q probably damaging Het
Slf2 T G 19: 44,960,100 (GRCm39) D1022E probably damaging Het
Syne1 C T 10: 5,007,909 (GRCm39) C7932Y probably damaging Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tchhl1 A G 3: 93,377,623 (GRCm39) D109G possibly damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Tm4sf1 C T 3: 57,200,448 (GRCm39) G85S probably damaging Het
Tmpo A G 10: 90,985,411 (GRCm39) V357A probably damaging Het
Unc80 T C 1: 66,685,709 (GRCm39) Y2278H possibly damaging Het
Vmn1r26 A G 6: 57,985,808 (GRCm39) F127S probably damaging Het
Vmn2r8 A T 5: 108,945,264 (GRCm39) M781K probably damaging Het
Vps36 T G 8: 22,708,280 (GRCm39) M348R possibly damaging Het
Vps45 T C 3: 95,926,943 (GRCm39) T535A 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
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
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'- AGACCTTGGGTTTCATCTTCAG -3'
(R):5'- AGTGCAAGGCCTGGTATTCC -3'

Sequencing Primer
(F):5'- GCTATACAGAGAAACCCTGTCTTG -3'
(R):5'- AGGATGCCTGTCCTGAAGG -3'
Posted On 2016-04-15