Incidental Mutation 'IGL02398:Tmem178b'
ID291767
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem178b
Ensembl Gene ENSMUSG00000057716
Gene Nametransmembrane protein 178B
SynonymsGm5567, A930009E05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.165) question?
Stock #IGL02398
Quality Score
Status
Chromosome6
Chromosomal Location39873271-40255150 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 40207527 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 120 (M120V)
Ref Sequence ENSEMBL: ENSMUSP00000137869 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061740] [ENSMUST00000180886]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061740
AA Change: M55V

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055268
Gene: ENSMUSG00000057716
AA Change: M55V

DomainStartEndE-ValueType
Pfam:Claudin_2 2 114 3.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180886
AA Change: M120V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000137869
Gene: ENSMUSG00000057716
AA Change: M120V

DomainStartEndE-ValueType
transmembrane domain 83 105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181132
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,402,824 C160* probably null Het
Alkbh8 C T 9: 3,345,870 P197S possibly damaging Het
Ankef1 A C 2: 136,555,782 N761T probably damaging Het
Ankrd7 A G 6: 18,866,697 Y72C probably damaging Het
Cfap36 T G 11: 29,222,833 M231L probably benign Het
Cog7 A G 7: 121,964,209 C227R probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspg4 A T 9: 56,886,686 E568D probably benign Het
Cwc27 G A 13: 104,804,254 T199I possibly damaging Het
Cyp26a1 A G 19: 37,700,019 I330V probably benign Het
Dcaf7 T C 11: 106,053,753 V254A probably benign Het
Dhrs7 G A 12: 72,664,692 R24C probably damaging Het
Ehmt2 T A 17: 34,908,479 C838S probably damaging Het
Fn1 A T 1: 71,618,670 probably null Het
Gjb3 T A 4: 127,326,062 S226C probably benign Het
Gm14496 A G 2: 181,996,170 I346V probably benign Het
Gm5926 A G X: 32,651,386 D224G probably damaging Het
Gm8050 T C 14: 6,717,330 E172G probably damaging Het
Higd1a G A 9: 121,852,524 R22W probably damaging Het
Hmcn1 A G 1: 150,802,897 L491S possibly damaging Het
Igsf9b T C 9: 27,333,130 S794P possibly damaging Het
Irgm2 A T 11: 58,219,929 I161F probably damaging Het
Lrp8 G T 4: 107,847,494 V304F probably damaging Het
Lrp8 C A 4: 107,869,048 S850R probably damaging Het
Lrrc9 A T 12: 72,466,903 M513L probably benign Het
Myo18b A T 5: 112,830,312 V1248E possibly damaging Het
Myo1b A T 1: 51,757,891 N945K probably damaging Het
Nipbl A G 15: 8,327,090 L1604P probably damaging Het
Oas1f A T 5: 120,851,505 Y169F probably benign Het
Ogfod3 G A 11: 121,203,025 T53I probably benign Het
Olfr1054 A T 2: 86,332,524 Y277* probably null Het
Olfr444 A T 6: 42,956,112 I205F probably benign Het
Olfr584 G A 7: 103,086,106 C191Y probably damaging Het
Parp8 A G 13: 116,910,863 probably null Het
Pde4dip T C 3: 97,766,781 Y273C probably benign Het
Pgbd5 C T 8: 124,384,518 A54T probably damaging Het
Pglyrp4 G A 3: 90,739,117 probably benign Het
Piezo1 A T 8: 122,486,563 S1819R probably benign Het
Polr1a T C 6: 71,936,556 probably benign Het
Polr1b A G 2: 129,102,966 I61V probably benign Het
Prlhr G T 19: 60,467,315 A271E probably damaging Het
Rad23b C T 4: 55,350,360 probably benign Het
Rad51ap1 A T 6: 126,928,151 S132R probably damaging Het
Ros1 T A 10: 52,144,884 probably benign Het
Ryr3 T C 2: 112,847,422 D1327G probably benign Het
Slit1 A C 19: 41,602,237 V1332G probably damaging Het
Trim25 T C 11: 88,999,804 C106R probably damaging Het
Trim35 A G 14: 66,309,248 Y488C probably damaging Het
Tsc2 A T 17: 24,621,729 H326Q probably damaging Het
Yap1 A T 9: 7,950,535 I315K probably benign Het
Zfp654 A G 16: 64,786,018 V607A probably benign Het
Other mutations in Tmem178b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03004:Tmem178b APN 6 40245581 missense probably damaging 1.00
R2147:Tmem178b UTSW 6 40207501 missense probably damaging 1.00
R2148:Tmem178b UTSW 6 40207501 missense probably damaging 1.00
R2150:Tmem178b UTSW 6 40207501 missense probably damaging 1.00
R4690:Tmem178b UTSW 6 40245613 missense probably benign 0.01
R4803:Tmem178b UTSW 6 40004226 missense probably damaging 0.99
R5737:Tmem178b UTSW 6 40245641 missense possibly damaging 0.89
R6800:Tmem178b UTSW 6 40254924 missense unknown
R7794:Tmem178b UTSW 6 40245617 missense probably damaging 1.00
Posted On2015-04-16