Incidental Mutation 'IGL01484:Tmem169'
ID88848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem169
Ensembl Gene ENSMUSG00000026188
Gene Nametransmembrane protein 169
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01484
Quality Score
Status
Chromosome1
Chromosomal Location72284369-72303104 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72301104 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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