Incidental Mutation 'R6119:Tmem106a'
ID485674
Institutional Source Beutler Lab
Gene Symbol Tmem106a
Ensembl Gene ENSMUSG00000034947
Gene Nametransmembrane protein 106A
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R6119 (G1)
Quality Score225.009
Status Validated
Chromosome11
Chromosomal Location101582242-101591788 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 101583750 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 58 (C58*)
Ref Sequence ENSEMBL: ENSMUSP00000122218 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039581] [ENSMUST00000071537] [ENSMUST00000100403] [ENSMUST00000103098] [ENSMUST00000103099] [ENSMUST00000107194] [ENSMUST00000107208] [ENSMUST00000107212] [ENSMUST00000107213] [ENSMUST00000107218] [ENSMUST00000123558] [ENSMUST00000128614]
Predicted Effect probably null
Transcript: ENSMUST00000039581
AA Change: C58*
SMART Domains Protein: ENSMUSP00000045832
Gene: ENSMUSG00000034947
AA Change: C58*

DomainStartEndE-ValueType
Pfam:DUF1356 11 251 2.2e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071537
SMART Domains Protein: ENSMUSP00000071467
Gene: ENSMUSG00000017119

DomainStartEndE-ValueType
PB1 4 86 2.05e-8 SMART
ZnF_ZZ 212 257 1.21e-13 SMART
coiled coil region 291 330 N/A INTRINSIC
Pfam:N_BRCA1_IG 378 479 7.1e-34 PFAM
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 null
Transcript: ENSMUST00000100403
AA Change: C58*
SMART Domains Protein: ENSMUSP00000097971
Gene: ENSMUSG00000034947
AA Change: C58*

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 probably null
Transcript: ENSMUST00000107194
AA Change: C58*
SMART Domains Protein: ENSMUSP00000102812
Gene: ENSMUSG00000034947
AA Change: C58*

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: ENSMUST00000107218
SMART Domains Protein: ENSMUSP00000102836
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: 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 null
Transcript: ENSMUST00000128614
AA Change: C58*
SMART Domains Protein: ENSMUSP00000122218
Gene: ENSMUSG00000034947
AA Change: C58*

DomainStartEndE-ValueType
Pfam:DUF1356 11 156 8.4e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141170
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
Meta Mutation Damage Score 0.598 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,565,713 R97* probably null Het
4930544D05Rik G A 11: 70,616,491 A121T probably damaging Het
Abtb2 A T 2: 103,702,310 E484D probably benign Het
Ankk1 A T 9: 49,426,883 W37R possibly damaging Het
Arhgap11a C A 2: 113,834,350 M529I probably benign Het
Btd G A 14: 31,641,108 probably benign Het
Ddx47 T C 6: 135,023,355 I438T probably benign Het
Dnhd1 A G 7: 105,709,440 T3379A probably benign Het
Dusp3 A G 11: 101,980,669 probably benign Het
Dync1h1 A G 12: 110,628,006 K1289E possibly damaging Het
Egf A T 3: 129,736,772 I247N probably benign Het
Erich1 A G 8: 14,033,692 L126P probably benign Het
Fam208b C T 13: 3,581,891 R870H possibly damaging Het
Fat3 T A 9: 16,376,568 H553L possibly damaging Het
Gdpgp1 T C 7: 80,238,992 L257P probably damaging Het
Gimap8 T C 6: 48,658,954 I551T possibly damaging Het
Gnptab C A 10: 88,431,395 D449E probably damaging Het
Grb10 T C 11: 11,933,551 D513G probably damaging Het
Grin1 T G 2: 25,305,158 D283A probably damaging Het
Gtf2i A T 5: 134,287,057 probably null Het
Ip6k3 A G 17: 27,148,625 V199A possibly damaging Het
Kif17 T A 4: 138,288,332 Y405* probably null Het
Lair1 T C 7: 4,028,896 M71V probably benign Het
Mamdc2 G A 19: 23,353,315 T376M probably damaging Het
Msra G A 14: 64,440,734 R38C probably damaging Het
Mthfd1 A T 12: 76,303,673 I462F probably damaging Het
Mum1 A G 10: 80,229,031 K32E probably benign Het
Nbr1 A G 11: 101,567,112 probably null Het
Neb A G 2: 52,220,931 M181T probably benign Het
Noxo1 A G 17: 24,696,571 probably benign Het
Olfr1124 A T 2: 87,435,389 K301* probably null Het
Olfr1195 A G 2: 88,683,591 I47T probably damaging Het
Olfr181 A T 16: 58,926,532 I13N possibly damaging Het
Olfr811 G A 10: 129,801,820 A235V probably damaging Het
Olfr811 C A 10: 129,801,821 A235S probably damaging Het
Optn C A 2: 5,021,323 probably null Het
Pclo A G 5: 14,677,019 probably benign Het
Ppp1r16b A G 2: 158,751,127 I209V probably benign Het
Prss12 A G 3: 123,489,609 I517V possibly damaging Het
Ripor2 C T 13: 24,614,644 probably benign Het
Rmnd5b A G 11: 51,625,709 S274P probably benign Het
Sftpa1 T A 14: 41,132,552 I32N probably damaging Het
Slc2a12 T A 10: 22,665,347 I367N probably damaging Het
Sorcs1 T C 19: 50,288,094 D340G probably damaging Het
Synj1 T C 16: 90,938,989 K1359E probably benign Het
Tcf12 T A 9: 71,868,265 E421V probably damaging Het
Tecta A T 9: 42,373,075 F905I probably benign Het
Tmem131l A T 3: 83,898,382 F1585I probably damaging Het
Tnks2 T C 19: 36,879,352 S208P possibly damaging Het
Trim50 A G 5: 135,353,420 N42S probably benign Het
Tsc22d2 T A 3: 58,460,253 probably benign Het
Ttll3 T A 6: 113,394,741 L23H probably damaging Het
Vmn1r10 A G 6: 57,114,233 Y270C probably benign Het
Ypel3 T C 7: 126,778,365 V74A possibly damaging Het
Zfp677 A G 17: 21,397,808 T376A possibly 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
IGL02967:Tmem106a APN 11 101586295 missense possibly damaging 0.57
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
Predicted Primers PCR Primer
(F):5'- TATGGGTAAGGCAGTCTCCC -3'
(R):5'- CTGGCTTGAGGAACAGACAG -3'

Sequencing Primer
(F):5'- TAAGGCAGTCTCCCAGCTC -3'
(R):5'- ACGAAACTTTCCTCTAGGAGCTGG -3'
Posted On2017-08-16