Incidental Mutation 'IGL01484:Tmem169'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem169
Ensembl Gene ENSMUSG00000026188
Gene Nametransmembrane protein 169
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01484
Quality Score
Chromosomal Location72284369-72303104 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72301104 bp
Amino Acid Change Valine to Alanine at position 231 (V231A)
Ref Sequence ENSEMBL: ENSMUSP00000027380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027380] [ENSMUST00000141783]
Predicted Effect probably damaging
Transcript: ENSMUST00000027380
AA Change: V231A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000027380
Gene: ENSMUSG00000026188
AA Change: V231A

low complexity region 21 31 N/A INTRINSIC
Pfam:TMEM169 147 277 6.1e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141783
SMART Domains Protein: ENSMUSP00000114990
Gene: ENSMUSG00000026188

low complexity region 21 31 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,629,006 H90R possibly damaging Het
Arsj A G 3: 126,365,036 D88G probably damaging Het
Clca4b C T 3: 144,928,235 V140I probably benign Het
Dagla A C 19: 10,248,520 L760R possibly damaging Het
Dnah1 T C 14: 31,299,940 E1202G probably damaging Het
Hdac9 T C 12: 34,437,165 H100R probably damaging Het
Hhip T C 8: 79,996,783 H414R probably damaging Het
Hk2 G A 6: 82,736,730 T457M probably damaging Het
Iapp A G 6: 142,303,439 T73A possibly damaging Het
Ifit1 A G 19: 34,648,843 N460D probably damaging Het
Itpa T C 2: 130,672,099 F77L probably benign Het
Knop1 T C 7: 118,852,809 D229G probably damaging Het
Lrrc32 T C 7: 98,494,235 I5T probably damaging Het
Myo7a C T 7: 98,085,422 V622M probably damaging Het
N4bp1 T C 8: 86,844,772 E866G probably damaging Het
Olfr330 A T 11: 58,529,396 W197R probably benign Het
Palmd G A 3: 116,953,145 probably benign Het
Pcbp4 A G 9: 106,460,649 probably null Het
Pigf T C 17: 87,008,880 I157V probably benign Het
Pot1b G A 17: 55,695,160 T138M possibly damaging Het
Prl7a2 T A 13: 27,659,208 D204V probably damaging Het
Rfc3 A T 5: 151,642,936 D349E probably benign Het
Sarm1 A T 11: 78,491,013 C215S probably damaging Het
Serpine1 T C 5: 137,063,472 probably benign Het
Strip1 A G 3: 107,613,259 V825A probably damaging Het
Stx12 A G 4: 132,884,362 S2P probably damaging Het
Sycp1 A C 3: 102,915,867 S311R probably benign Het
Tfpi A T 2: 84,444,825 C139* probably null Het
Tmc5 T A 7: 118,656,787 I695N probably damaging Het
Ttbk2 T G 2: 120,739,833 S1211R possibly damaging Het
Ubr3 C T 2: 70,021,544 R1855* probably null Het
Urb1 A T 16: 90,777,560 S878T probably benign Het
Vmn1r174 T A 7: 23,754,324 Y138* probably null Het
Zfp282 A G 6: 47,890,120 N214D possibly damaging Het
Other mutations in Tmem169
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02264:Tmem169 APN 1 72300955 nonsense probably null
R1416:Tmem169 UTSW 1 72300716 missense probably damaging 1.00
R1463:Tmem169 UTSW 1 72300696 missense probably benign 0.19
R2138:Tmem169 UTSW 1 72300996 missense probably damaging 1.00
R4810:Tmem169 UTSW 1 72298152 missense probably benign 0.05
R4833:Tmem169 UTSW 1 72298152 missense probably benign 0.05
R7166:Tmem169 UTSW 1 72301070 missense probably benign
R8503:Tmem169 UTSW 1 72301007 missense probably damaging 1.00
X0027:Tmem169 UTSW 1 72297927 missense probably benign
Z1177:Tmem169 UTSW 1 72301130 missense probably damaging 0.98
Posted On2013-11-18