Incidental Mutation 'IGL02967:Tmem106a'
ID365644
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem106a
Ensembl Gene ENSMUSG00000034947
Gene Nametransmembrane protein 106A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02967
Quality Score
Status
Chromosome11
Chromosomal Location101582242-101591788 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101586295 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 110 (I110T)
Ref Sequence ENSEMBL: ENSMUSP00000102812 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039581] [ENSMUST00000100403] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107194] [ENSMUST00000107208] [ENSMUST00000107212] [ENSMUST00000107213] [ENSMUST00000123558] [ENSMUST00000128614]
Predicted Effect probably benign
Transcript: ENSMUST00000039581
AA Change: I110T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
AA Change: I110T

DomainStartEndE-ValueType
Pfam:DUF1356 11 251 2.2e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100403
AA Change: I110T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
AA Change: I110T

DomainStartEndE-ValueType
Pfam:DUF1356 24 251 1e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103098
SMART Domains Protein: ENSMUSP00000099387
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 5e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
PDB:2MJ5|B 935 981 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000103099
SMART Domains Protein: ENSMUSP00000099388
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 5e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
PDB:2MJ5|B 935 981 2e-24 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000107194
AA Change: I110T

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947
AA Change: I110T

DomainStartEndE-ValueType
Pfam:DUF1356 11 171 4.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107208
SMART Domains Protein: ENSMUSP00000102826
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 1e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107212
SMART Domains Protein: ENSMUSP00000102830
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 3e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 689 719 N/A INTRINSIC
PDB:2MJ5|B 910 956 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000107213
SMART Domains Protein: ENSMUSP00000102831
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 2e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 677 707 N/A INTRINSIC
PDB:2MJ5|B 898 944 2e-24 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000123558
SMART Domains Protein: ENSMUSP00000133619
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 7.02e-16 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
PDB:4OLE|D 368 486 2e-77 PDB
low complexity region 507 518 N/A INTRINSIC
coiled coil region 714 744 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128614
AA Change: I110T

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947
AA Change: I110T

DomainStartEndE-ValueType
Pfam:DUF1356 11 156 8.4e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143045
Predicted Effect probably benign
Transcript: ENSMUST00000149019
SMART Domains Protein: ENSMUSP00000119900
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
coiled coil region 50 89 N/A INTRINSIC
Pfam:N_BRCA1_IG 138 239 2.3e-34 PFAM
low complexity region 267 278 N/A INTRINSIC
coiled coil region 473 500 N/A INTRINSIC
PDB:2MJ5|B 659 705 1e-24 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,291 T3455A probably damaging Het
Abca8a G A 11: 110,050,936 P1169L probably damaging Het
Ablim3 T A 18: 61,826,503 K272* probably null Het
Acin1 A G 14: 54,642,753 V574A possibly damaging Het
Acot4 A T 12: 84,043,461 I311L probably benign Het
Akap9 C T 5: 3,976,164 A1273V probably benign Het
Ap1g2 T A 14: 55,105,022 probably benign Het
Apob A T 12: 8,015,366 K4112* probably null Het
Aspdh A G 7: 44,465,539 probably null Het
Atf7ip T C 6: 136,606,727 I1252T probably damaging Het
Avpr1a A G 10: 122,449,462 T220A possibly damaging Het
Bdp1 A G 13: 100,042,270 F1856S possibly damaging Het
Btbd11 A G 10: 85,633,782 T856A probably benign Het
Cit A T 5: 115,945,837 N743I probably benign Het
Clvs2 T C 10: 33,595,788 K174E probably damaging Het
Cyp4f40 A T 17: 32,674,248 Q351L probably damaging Het
Dmbt1 G T 7: 131,071,189 V550L possibly damaging Het
Edem1 T G 6: 108,836,777 S178A probably damaging Het
Fam222b C T 11: 78,154,108 A165V probably benign Het
Fer T C 17: 63,896,267 V64A possibly damaging Het
Fggy T G 4: 95,926,749 F535C possibly damaging Het
Fkbp15 A T 4: 62,304,390 S1091T probably damaging Het
Fstl5 G A 3: 76,322,191 V100M probably damaging Het
Fut7 G T 2: 25,425,143 V91L probably damaging Het
Gemin4 A T 11: 76,212,241 C565S probably damaging Het
Gzmm C T 10: 79,695,063 T233I possibly damaging Het
Hps5 A T 7: 46,769,380 L789Q possibly damaging Het
Krt32 G A 11: 100,084,050 S357F possibly damaging Het
Lrig2 C T 3: 104,494,196 probably benign Het
Lrp8 C A 4: 107,861,234 Q678K probably benign Het
Mmp27 C A 9: 7,571,590 Q45K probably benign Het
Myh1 A G 11: 67,209,070 D602G possibly damaging Het
Ncoa1 G T 12: 4,295,294 H684Q probably damaging Het
Nol9 T C 4: 152,041,102 V170A possibly damaging Het
Notch2 A G 3: 98,146,144 D2041G probably damaging Het
Nrg3 G T 14: 38,668,299 probably benign Het
Nuak1 T A 10: 84,440,221 H46L probably damaging Het
Pdzd2 G T 15: 12,374,341 Q1903K probably benign Het
Pik3c2g T C 6: 139,967,828 V616A probably damaging Het
Ppp6c A G 2: 39,226,217 Y9H probably damaging Het
Prdm11 A T 2: 93,012,889 F75Y probably damaging Het
Prelid1 G A 13: 55,324,406 V132I probably benign Het
Prom1 A G 5: 44,044,398 S227P probably damaging Het
Psmb5 G A 14: 54,616,626 R132C probably benign Het
Pus10 A G 11: 23,718,602 N360D probably damaging Het
Pygm G A 19: 6,393,838 V610M probably damaging Het
Setd1a A G 7: 127,785,177 probably benign Het
Sfmbt1 T A 14: 30,816,802 W793R probably damaging Het
Slc25a4 A G 8: 46,209,150 L157P probably damaging Het
Sost T G 11: 101,964,258 E75A possibly damaging Het
Tdrd9 A G 12: 111,992,488 S119G possibly damaging Het
Tepsin A G 11: 120,094,128 I238T probably benign Het
Tfr2 T A 5: 137,582,819 L507* probably null Het
Tmem38a A T 8: 72,586,082 D298V possibly damaging Het
Tmprss12 A T 15: 100,285,381 R201S probably benign Het
Ugt2b36 T C 5: 87,090,900 T271A possibly damaging Het
Virma T G 4: 11,514,096 V650G probably benign Het
Vmn1r220 A T 13: 23,183,992 I178N probably damaging Het
Zfp609 A G 9: 65,697,619 S1276P possibly damaging Het
Zfp809 A G 9: 22,235,102 Y29C probably damaging Het
Other mutations in Tmem106a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02122:Tmem106a APN 11 101590414 missense probably damaging 1.00
IGL02754:Tmem106a APN 11 101590393 missense probably benign 0.12
IGL03169:Tmem106a APN 11 101590458 unclassified probably benign
R0100:Tmem106a UTSW 11 101586258 missense probably benign 0.08
R0100:Tmem106a UTSW 11 101586258 missense probably benign 0.08
R1499:Tmem106a UTSW 11 101590437 missense possibly damaging 0.89
R1875:Tmem106a UTSW 11 101586378 unclassified probably benign
R4843:Tmem106a UTSW 11 101586195 unclassified probably benign
R6119:Tmem106a UTSW 11 101583750 nonsense probably null
Posted On2015-12-18