Incidental Mutation 'IGL02934:Tmem184c'
ID 364208
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem184c
Ensembl Gene ENSMUSG00000031617
Gene Name transmembrane protein 184C
Synonyms Tmem34, 8430433H16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # IGL02934
Quality Score
Status
Chromosome 8
Chromosomal Location 78322611-78337327 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78324449 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 347 (V347A)
Ref Sequence ENSEMBL: ENSMUSP00000034030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034030]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034030
AA Change: V347A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000034030
Gene: ENSMUSG00000031617
AA Change: V347A

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Solute_trans_a 48 317 1.9e-101 PFAM
low complexity region 373 388 N/A INTRINSIC
low complexity region 404 415 N/A INTRINSIC
internal_repeat_1 422 485 1.18e-11 PROSPERO
low complexity region 500 512 N/A INTRINSIC
internal_repeat_1 519 599 1.18e-11 PROSPERO
low complexity region 600 621 N/A INTRINSIC
Meta Mutation Damage Score 0.2353 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A T 3: 121,956,008 (GRCm39) R716* probably null Het
Abca8a A T 11: 109,931,414 (GRCm39) N1246K probably damaging Het
Acadl A G 1: 66,876,134 (GRCm39) Y396H probably benign Het
Apol7c A T 15: 77,410,318 (GRCm39) S209R possibly damaging Het
Atp1a1 A T 3: 101,484,308 (GRCm39) C990* probably null Het
Cachd1 C T 4: 100,825,295 (GRCm39) S583L probably damaging Het
Cbfa2t3 T C 8: 123,374,497 (GRCm39) T48A probably benign Het
Ccdc138 G T 10: 58,409,402 (GRCm39) probably benign Het
Cenpe A G 3: 134,970,112 (GRCm39) E2231G probably damaging Het
Cog3 T C 14: 75,979,129 (GRCm39) I206V probably damaging Het
Cr2 A G 1: 194,836,633 (GRCm39) probably benign Het
Ctdspl2 T C 2: 121,809,490 (GRCm39) V147A probably damaging Het
Cyp4f13 A G 17: 33,148,845 (GRCm39) V300A probably damaging Het
Dkk3 A T 7: 111,749,954 (GRCm39) M72K probably damaging Het
Dock3 A T 9: 106,900,944 (GRCm39) F340L probably benign Het
Fut1 A G 7: 45,268,127 (GRCm39) H27R possibly damaging Het
Igkv4-80 A G 6: 68,993,840 (GRCm39) V17A probably benign Het
Igkv9-123 G A 6: 67,931,380 (GRCm39) P62L possibly damaging Het
Kmt2e T C 5: 23,702,882 (GRCm39) S1021P probably damaging Het
Krt13 A C 11: 100,009,910 (GRCm39) L320R probably damaging Het
Ldhal6b T C 17: 5,467,819 (GRCm39) T372A probably benign Het
Manba T C 3: 135,250,510 (GRCm39) V379A probably benign Het
Map1b C T 13: 99,571,639 (GRCm39) V361I probably benign Het
Map4k1 A G 7: 28,693,531 (GRCm39) S399G probably benign Het
Mff G A 1: 82,724,815 (GRCm39) R229H probably damaging Het
Naga T C 15: 82,214,401 (GRCm39) N370S possibly damaging Het
Ncor2 A T 5: 125,102,621 (GRCm39) M2045K probably benign Het
Nipal1 T C 5: 72,805,250 (GRCm39) L7P probably damaging Het
Or10p22 T A 10: 128,825,958 (GRCm39) M59K probably damaging Het
Pcmt1 A T 10: 7,516,491 (GRCm39) M187K probably benign Het
Perp A T 10: 18,731,520 (GRCm39) T160S probably damaging Het
Rapgef6 G A 11: 54,516,690 (GRCm39) D169N probably damaging Het
Sel1l G A 12: 91,776,710 (GRCm39) Q711* probably null Het
Septin5 T C 16: 18,448,581 (GRCm39) Y7C probably damaging Het
Spdya A T 17: 71,863,395 (GRCm39) N48I probably benign Het
Stard6 T A 18: 70,629,175 (GRCm39) probably benign Het
Sytl2 T C 7: 90,025,200 (GRCm39) V396A probably benign Het
Tcaf3 T G 6: 42,570,832 (GRCm39) M307L probably benign Het
Tdrd6 T C 17: 43,938,778 (GRCm39) N757D probably benign Het
Tgm1 T A 14: 55,947,446 (GRCm39) D305V probably damaging Het
Themis2 T A 4: 132,516,862 (GRCm39) M213L probably damaging Het
Tmem214 A G 5: 31,028,888 (GRCm39) E159G probably benign Het
Trim58 C T 11: 58,531,292 (GRCm39) probably benign Het
Tshz1 A T 18: 84,031,215 (GRCm39) S1064R probably damaging Het
Ubr2 C T 17: 47,268,266 (GRCm39) E983K possibly damaging Het
Vmn1r23 A T 6: 57,902,914 (GRCm39) I288N probably benign Het
Vmn2r97 T C 17: 19,149,947 (GRCm39) V445A probably benign Het
Whrn G A 4: 63,334,342 (GRCm39) T813M probably damaging Het
Xirp2 C T 2: 67,346,020 (GRCm39) H2754Y probably benign Het
Other mutations in Tmem184c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01894:Tmem184c APN 8 78,323,775 (GRCm39) nonsense probably null
IGL02024:Tmem184c APN 8 78,331,443 (GRCm39) missense probably benign 0.10
IGL02231:Tmem184c APN 8 78,331,441 (GRCm39) missense probably damaging 1.00
IGL02736:Tmem184c APN 8 78,324,475 (GRCm39) missense probably damaging 1.00
IGL03046:Tmem184c UTSW 8 78,326,286 (GRCm39) nonsense probably null
R0107:Tmem184c UTSW 8 78,323,702 (GRCm39) missense possibly damaging 0.78
R0107:Tmem184c UTSW 8 78,323,702 (GRCm39) missense possibly damaging 0.78
R0189:Tmem184c UTSW 8 78,324,441 (GRCm39) missense possibly damaging 0.92
R0564:Tmem184c UTSW 8 78,332,789 (GRCm39) splice site probably null
R0946:Tmem184c UTSW 8 78,331,386 (GRCm39) missense probably damaging 1.00
R1629:Tmem184c UTSW 8 78,332,791 (GRCm39) critical splice donor site probably null
R1629:Tmem184c UTSW 8 78,329,551 (GRCm39) missense possibly damaging 0.87
R2261:Tmem184c UTSW 8 78,323,804 (GRCm39) missense probably damaging 0.99
R2261:Tmem184c UTSW 8 78,323,672 (GRCm39) missense probably damaging 1.00
R2919:Tmem184c UTSW 8 78,331,276 (GRCm39) missense probably damaging 1.00
R3805:Tmem184c UTSW 8 78,323,504 (GRCm39) missense unknown
R5418:Tmem184c UTSW 8 78,324,449 (GRCm39) missense probably damaging 1.00
R5716:Tmem184c UTSW 8 78,333,036 (GRCm39) missense possibly damaging 0.90
R5934:Tmem184c UTSW 8 78,331,352 (GRCm39) nonsense probably null
R5951:Tmem184c UTSW 8 78,325,291 (GRCm39) splice site probably null
R6150:Tmem184c UTSW 8 78,323,069 (GRCm39) missense probably benign 0.04
R7206:Tmem184c UTSW 8 78,323,206 (GRCm39) missense possibly damaging 0.46
R7387:Tmem184c UTSW 8 78,324,559 (GRCm39) nonsense probably null
R7899:Tmem184c UTSW 8 78,324,440 (GRCm39) missense probably damaging 1.00
R7959:Tmem184c UTSW 8 78,329,532 (GRCm39) missense possibly damaging 0.94
R8100:Tmem184c UTSW 8 78,331,411 (GRCm39) missense possibly damaging 0.92
R8246:Tmem184c UTSW 8 78,336,814 (GRCm39) missense probably damaging 1.00
R9800:Tmem184c UTSW 8 78,323,087 (GRCm39) missense probably benign 0.10
Posted On 2015-12-18