Incidental Mutation 'IGL02891:Tmem63c'
ID363173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem63c
Ensembl Gene ENSMUSG00000034145
Gene Nametransmembrane protein 63c
Synonyms9330187M14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02891
Quality Score
Status
Chromosome12
Chromosomal Location87021340-87090043 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 87071268 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 216 (F216L)
Ref Sequence ENSEMBL: ENSMUSP00000119872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110187] [ENSMUST00000131878] [ENSMUST00000146292] [ENSMUST00000154801]
Predicted Effect probably benign
Transcript: ENSMUST00000110187
AA Change: F216L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105816
Gene: ENSMUSG00000034145
AA Change: F216L

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 204 9.5e-21 PFAM
Pfam:DUF4463 253 323 6.1e-16 PFAM
Pfam:DUF221 341 680 8.9e-89 PFAM
transmembrane domain 682 704 N/A INTRINSIC
low complexity region 728 737 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119807
Predicted Effect probably benign
Transcript: ENSMUST00000131878
AA Change: F216L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000117023
Gene: ENSMUSG00000034145
AA Change: F216L

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 204 9.5e-21 PFAM
Pfam:DUF4463 253 323 6.1e-16 PFAM
Pfam:DUF221 341 680 8.9e-89 PFAM
transmembrane domain 682 704 N/A INTRINSIC
low complexity region 728 737 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146292
AA Change: F216L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119872
Gene: ENSMUSG00000034145
AA Change: F216L

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 204 1.6e-20 PFAM
Pfam:PHM7_cyt 253 323 6e-12 PFAM
Pfam:RSN1_7TM 341 680 2.5e-88 PFAM
transmembrane domain 682 704 N/A INTRINSIC
low complexity region 728 737 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154801
SMART Domains Protein: ENSMUSP00000119898
Gene: ENSMUSG00000034145

DomainStartEndE-ValueType
Pfam:RSN1_TM 35 179 1.6e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik C T 3: 108,464,392 R672Q probably benign Het
Abca17 A G 17: 24,281,366 S1284P probably damaging Het
Adgrf1 T C 17: 43,311,161 V763A probably damaging Het
Adhfe1 T A 1: 9,558,171 M256K probably benign Het
Chit1 A G 1: 134,145,310 S125G probably benign Het
Clu T A 14: 65,975,984 F273Y probably damaging Het
Dgki T C 6: 36,913,741 D869G probably benign Het
Emx1 T C 6: 85,204,085 probably benign Het
Ercc2 T G 7: 19,393,286 F316C probably damaging Het
Fam81a A G 9: 70,110,276 L129P probably damaging Het
Fat4 T A 3: 38,951,273 N1940K probably damaging Het
Fbxl13 G A 5: 21,522,100 probably benign Het
Kcnt2 T A 1: 140,574,806 D879E probably damaging Het
Kti12 T G 4: 108,848,533 S215A probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Ntn5 G T 7: 45,686,224 L26F probably damaging Het
Nwd2 A G 5: 63,725,227 N74S possibly damaging Het
Olfr109 T A 17: 37,466,944 V246E probably damaging Het
Olfr709-ps1 A G 7: 106,927,081 V126A probably damaging Het
Phactr4 T C 4: 132,387,023 D20G probably damaging Het
Ptpn23 G A 9: 110,388,020 Q923* probably null Het
Rfx6 T A 10: 51,723,846 S333T possibly damaging Het
Skint10 T A 4: 112,728,826 I198F probably benign Het
Spata5 T A 3: 37,426,192 V130D probably damaging Het
Taf3 G A 2: 9,921,227 P647L probably damaging Het
Tbcb T C 7: 30,233,434 probably benign Het
Ttc30b C T 2: 75,937,060 V450M possibly damaging Het
Uba5 A G 9: 104,054,193 probably benign Het
Usp34 C A 11: 23,487,166 Q217K probably benign Het
Vmn1r202 G A 13: 22,501,470 T259I probably benign Het
Vmn2r99 G A 17: 19,378,690 W212* probably null Het
Zfp687 G T 3: 95,011,946 P172T probably damaging Het
Other mutations in Tmem63c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00730:Tmem63c APN 12 87077206 missense probably benign 0.05
IGL00837:Tmem63c APN 12 87077197 missense probably benign
IGL01317:Tmem63c APN 12 87071996 splice site probably benign
IGL01521:Tmem63c APN 12 87069144 missense probably damaging 0.99
IGL01955:Tmem63c APN 12 87077208 missense probably benign 0.00
IGL02007:Tmem63c APN 12 87072873 missense probably damaging 1.00
IGL03102:Tmem63c APN 12 87065549 missense probably benign 0.42
IGL03273:Tmem63c APN 12 87081802 missense probably damaging 1.00
R0238:Tmem63c UTSW 12 87075639 missense probably damaging 1.00
R0238:Tmem63c UTSW 12 87075639 missense probably damaging 1.00
R0239:Tmem63c UTSW 12 87075639 missense probably damaging 1.00
R0239:Tmem63c UTSW 12 87075639 missense probably damaging 1.00
R0975:Tmem63c UTSW 12 87075069 splice site probably benign
R2398:Tmem63c UTSW 12 87056533 missense probably damaging 1.00
R4416:Tmem63c UTSW 12 87081902 missense probably benign 0.14
R4721:Tmem63c UTSW 12 87057180 missense possibly damaging 0.70
R4881:Tmem63c UTSW 12 87086418 missense possibly damaging 0.67
R4888:Tmem63c UTSW 12 87089365 missense probably damaging 1.00
R5210:Tmem63c UTSW 12 87089398 missense probably benign 0.10
R5277:Tmem63c UTSW 12 87057757 unclassified probably null
R5790:Tmem63c UTSW 12 87057636 missense probably benign 0.10
R5855:Tmem63c UTSW 12 87075726 missense probably damaging 1.00
R5940:Tmem63c UTSW 12 87075172 missense probably benign
R6000:Tmem63c UTSW 12 87057197 missense probably damaging 1.00
R6240:Tmem63c UTSW 12 87076405 missense possibly damaging 0.67
R6268:Tmem63c UTSW 12 87081953 missense probably damaging 1.00
R6749:Tmem63c UTSW 12 87075665 missense probably damaging 1.00
R7380:Tmem63c UTSW 12 87077948 missense probably benign 0.00
R7472:Tmem63c UTSW 12 87069158 missense possibly damaging 0.50
Posted On2015-12-18