Incidental Mutation 'R3714:Tmem185b'
ID 476145
Institutional Source Beutler Lab
Gene Symbol Tmem185b
Ensembl Gene ENSMUSG00000098923
Gene Name transmembrane protein 185B
Synonyms 2500001K11Rik
MMRRC Submission 040707-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.306) question?
Stock # R3714 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 119453890-119456713 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119454781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 181 (F181I)
Ref Sequence ENSEMBL: ENSMUSP00000139021 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000183952]
AlphaFold Q8R3R5
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183607
Predicted Effect possibly damaging
Transcript: ENSMUST00000183952
AA Change: F181I

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000139021
Gene: ENSMUSG00000098923
AA Change: F181I

DomainStartEndE-ValueType
Pfam:Tmemb_185A 30 253 2.3e-71 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186206
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201849
AA Change: H209Q
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adck5 G A 15: 76,478,138 (GRCm39) V229I probably damaging Het
Afg2a G A 3: 37,487,358 (GRCm39) V407I probably benign Het
Ankk1 T G 9: 49,333,013 (GRCm39) D157A possibly damaging Het
Atp1a2 A G 1: 172,106,551 (GRCm39) I817T probably damaging Het
Ccdc87 A G 19: 4,890,287 (GRCm39) S260G probably benign Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Cibar2 C T 8: 120,901,576 (GRCm39) R43H probably damaging Het
Cntnap5c C T 17: 58,199,062 (GRCm39) Q119* probably null Het
Cpb2 T A 14: 75,520,657 (GRCm39) probably null Het
Ddx47 T A 6: 134,996,025 (GRCm39) I329K probably damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Fcsk G T 8: 111,613,891 (GRCm39) D723E probably damaging Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Garem1 T A 18: 21,281,947 (GRCm39) E136D probably damaging Het
Haus6 A G 4: 86,521,104 (GRCm39) I178T probably benign Het
Igkv3-2 T G 6: 70,675,480 (GRCm39) V10G possibly damaging Het
Jrkl A C 9: 13,244,236 (GRCm39) I475R possibly damaging Het
Lcmt1 C T 7: 123,003,683 (GRCm39) H146Y probably damaging Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Mb A G 15: 76,901,789 (GRCm39) V102A probably benign Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Mroh2b A G 15: 4,973,131 (GRCm39) I1045V probably benign Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndufs7 T C 10: 80,088,255 (GRCm39) I14T probably benign Het
Nlrp4b T C 7: 10,448,808 (GRCm39) V337A probably benign Het
Npm2 T C 14: 70,890,060 (GRCm39) probably null Het
Or10ab4 T C 7: 107,654,642 (GRCm39) F151S probably damaging Het
Or2h2c A G 17: 37,422,227 (GRCm39) Y216H probably damaging Het
Or4a68 G A 2: 89,269,727 (GRCm39) L299F probably damaging Het
Prdm9 T A 17: 15,777,623 (GRCm39) K154* probably null Het
Prkch C T 12: 73,822,290 (GRCm39) P630S probably damaging Het
Ptprn T C 1: 75,229,411 (GRCm39) probably null Het
Rnf31 T A 14: 55,840,851 (GRCm39) D884E probably damaging Het
Semp2l2a T G 8: 13,886,736 (GRCm39) I452L probably benign Het
Slc22a27 A T 19: 7,903,815 (GRCm39) N107K possibly damaging Het
Tln1 G T 4: 43,540,597 (GRCm39) A1468D probably damaging Het
Tmem63a G A 1: 180,790,679 (GRCm39) D446N possibly damaging Het
Trappc11 T C 8: 47,958,351 (GRCm39) probably benign Het
Vmn1r218 A T 13: 23,321,081 (GRCm39) N63Y probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Other mutations in Tmem185b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02968:Tmem185b APN 1 119,454,851 (GRCm39) missense possibly damaging 0.61
R5331:Tmem185b UTSW 1 119,455,322 (GRCm39) utr 3 prime probably benign
R5965:Tmem185b UTSW 1 119,454,294 (GRCm39) nonsense probably null
R5969:Tmem185b UTSW 1 119,455,193 (GRCm39) missense probably benign 0.01
R6444:Tmem185b UTSW 1 119,454,365 (GRCm39) missense probably damaging 1.00
R6709:Tmem185b UTSW 1 119,454,604 (GRCm39) missense probably benign 0.00
R8903:Tmem185b UTSW 1 119,454,198 (GRCm39) start gained probably benign
R8926:Tmem185b UTSW 1 119,454,406 (GRCm39) missense probably benign 0.00
R9246:Tmem185b UTSW 1 119,454,368 (GRCm39) missense probably damaging 0.96
R9649:Tmem185b UTSW 1 119,454,613 (GRCm39) missense probably benign 0.00
R9683:Tmem185b UTSW 1 119,454,748 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2017-05-11