Incidental Mutation 'IGL02483:Tmem184a'
ID295310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem184a
Ensembl Gene ENSMUSG00000036687
Gene Nametransmembrane protein 184a
SynonymsSdmg1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.428) question?
Stock #IGL02483
Quality Score
Status
Chromosome5
Chromosomal Location139802485-139819917 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 139813077 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 39 (E39G)
Ref Sequence ENSEMBL: ENSMUSP00000119412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044002] [ENSMUST00000110832] [ENSMUST00000146780] [ENSMUST00000147328] [ENSMUST00000182839]
Predicted Effect probably benign
Transcript: ENSMUST00000044002
AA Change: E63G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035399
Gene: ENSMUSG00000036687
AA Change: E63G

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 46 54 N/A INTRINSIC
Pfam:Solute_trans_a 82 356 2.2e-93 PFAM
low complexity region 408 435 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110832
AA Change: E39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106456
Gene: ENSMUSG00000036687
AA Change: E39G

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Pfam:Solute_trans_a 55 332 6.7e-101 PFAM
low complexity region 384 411 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146780
AA Change: E39G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117714
Gene: ENSMUSG00000036687
AA Change: E39G

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147328
AA Change: E39G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000119412
Gene: ENSMUSG00000036687
AA Change: E39G

DomainStartEndE-ValueType
low complexity region 22 30 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000182839
AA Change: E111G
SMART Domains Protein: ENSMUSP00000138120
Gene: ENSMUSG00000098140
AA Change: E111G

DomainStartEndE-ValueType
Pfam:DUF2372 34 82 2e-14 PFAM
low complexity region 94 102 N/A INTRINSIC
Pfam:Solute_trans_a 127 226 3.5e-36 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T G 8: 83,725,253 I512L probably damaging Het
Ahnak C A 19: 9,003,308 T652N probably benign Het
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Arnt2 T A 7: 84,251,397 H659L probably damaging Het
Cad A G 5: 31,060,826 probably null Het
Car6 T A 4: 150,196,129 N86I probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Cyp2c39 T A 19: 39,536,787 I178N probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Fam192a A G 8: 94,588,766 probably benign Het
Fmo4 A G 1: 162,808,421 V54A possibly damaging Het
Foxd3 C T 4: 99,657,028 S135F probably damaging Het
Fut7 T A 2: 25,423,876 F21Y possibly damaging Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gm4950 A T 18: 51,865,334 M183K probably damaging Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Hpd A T 5: 123,182,578 probably null Het
Imp4 T C 1: 34,444,275 probably null Het
Itgbl1 A T 14: 123,827,743 probably benign Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kdr C T 5: 75,936,294 probably null Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Lrrc28 T C 7: 67,617,983 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Map3k8 A G 18: 4,349,318 probably benign Het
Mcm3 A G 1: 20,803,572 S775P possibly damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Nbas C T 12: 13,324,294 A541V probably damaging Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1216 G T 2: 89,013,203 T287N probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Oma1 C T 4: 103,325,112 R271* probably null Het
Plekhh2 T C 17: 84,596,260 F1058S possibly damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Rgs12 A G 5: 35,030,517 E506G probably damaging Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Sfr1 G A 19: 47,732,788 probably benign Het
Trim66 C T 7: 109,477,630 probably benign Het
Ugt2b35 A G 5: 87,001,145 Y85C possibly damaging Het
Uts2r G T 11: 121,160,387 G26C possibly damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Other mutations in Tmem184a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01800:Tmem184a APN 5 139813144 missense possibly damaging 0.90
IGL02111:Tmem184a APN 5 139813101 missense possibly damaging 0.92
IGL03352:Tmem184a APN 5 139813000 missense probably damaging 0.98
R1488:Tmem184a UTSW 5 139807640 missense probably benign 0.14
R1950:Tmem184a UTSW 5 139807626 missense probably damaging 1.00
R3610:Tmem184a UTSW 5 139807955 critical splice donor site probably null
R4690:Tmem184a UTSW 5 139805622 missense probably benign 0.01
R4977:Tmem184a UTSW 5 139808002 missense probably null 0.57
R6247:Tmem184a UTSW 5 139813072 missense probably benign 0.02
R6497:Tmem184a UTSW 5 139813000 missense probably damaging 0.99
R6515:Tmem184a UTSW 5 139808438 missense probably benign 0.39
Posted On2015-04-16