Incidental Mutation 'IGL02451:Tmem101'
ID293657
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem101
Ensembl Gene ENSMUSG00000020921
Gene Nametransmembrane protein 101
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.125) question?
Stock #IGL02451
Quality Score
Status
Chromosome11
Chromosomal Location102152546-102156404 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 102153293 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 256 (D256V)
Ref Sequence ENSEMBL: ENSMUSP00000021296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021296] [ENSMUST00000055409]
Predicted Effect probably damaging
Transcript: ENSMUST00000021296
AA Change: D256V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021296
Gene: ENSMUSG00000020921
AA Change: D256V

DomainStartEndE-ValueType
Pfam:TMEM101 8 256 9.9e-122 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000055409
SMART Domains Protein: ENSMUSP00000050258
Gene: ENSMUSG00000048217

DomainStartEndE-ValueType
low complexity region 9 48 N/A INTRINSIC
low complexity region 77 90 N/A INTRINSIC
Pfam:NAT 349 514 3.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129799
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147252
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Pou6f1 T C 15: 100,579,940 T166A possibly damaging Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Tmem101
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Tmem101 APN 11 102154660 missense probably damaging 0.99
IGL01096:Tmem101 APN 11 102154552 splice site probably null
IGL01593:Tmem101 APN 11 102155878 missense probably damaging 1.00
IGL01814:Tmem101 APN 11 102153458 missense possibly damaging 0.58
IGL03238:Tmem101 APN 11 102155785 missense probably damaging 1.00
R0462:Tmem101 UTSW 11 102155867 missense probably benign 0.08
R0848:Tmem101 UTSW 11 102155866 missense possibly damaging 0.65
R1465:Tmem101 UTSW 11 102153329 missense probably damaging 0.97
R1465:Tmem101 UTSW 11 102153329 missense probably damaging 0.97
R1722:Tmem101 UTSW 11 102154693 missense probably damaging 1.00
R1928:Tmem101 UTSW 11 102153396 missense probably benign
R2082:Tmem101 UTSW 11 102153377 missense probably benign 0.17
R4577:Tmem101 UTSW 11 102155837 missense possibly damaging 0.48
R4724:Tmem101 UTSW 11 102153443 missense probably benign 0.32
R4729:Tmem101 UTSW 11 102156329 missense probably benign 0.25
R5146:Tmem101 UTSW 11 102154624 missense probably benign
R5184:Tmem101 UTSW 11 102156233 missense possibly damaging 0.78
R7381:Tmem101 UTSW 11 102153350 missense possibly damaging 0.91
Posted On2015-04-16