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
Is this an essential gene? Possibly non essential (E-score: 0.326) question?
Stock # R3714 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 119526160-119528983 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 119527051 bp (GRCm38)
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: 48,947,976 T595A possibly damaging Het
Abcd4 C T 12: 84,611,759 M223I probably benign Het
Adck5 G A 15: 76,593,938 V229I probably damaging Het
AF366264 T G 8: 13,836,736 I452L probably benign Het
Ankk1 T G 9: 49,421,713 D157A possibly damaging Het
Atp1a2 A G 1: 172,278,984 I817T probably damaging Het
Ccdc87 A G 19: 4,840,259 S260G probably benign Het
Cers3 G T 7: 66,786,075 A261S probably benign Het
Cntnap5c C T 17: 57,892,067 Q119* probably null Het
Cpb2 T A 14: 75,283,217 probably null Het
Ddx47 T A 6: 135,019,062 I329K probably damaging Het
Elavl3 G T 9: 22,018,599 D336E probably benign Het
Fam92b C T 8: 120,174,837 R43H probably damaging Het
Fras1 T C 5: 96,645,970 probably null Het
Fuk G T 8: 110,887,259 D723E probably damaging Het
Garem1 T A 18: 21,148,890 E136D probably damaging Het
Haus6 A G 4: 86,602,867 I178T probably benign Het
Igkv3-2 T G 6: 70,698,496 V10G possibly damaging Het
Jrkl A C 9: 13,244,231 I475R possibly damaging Het
Lcmt1 C T 7: 123,404,460 H146Y probably damaging Het
Lipk A G 19: 34,040,429 N289S probably damaging Het
Mb A G 15: 77,017,589 V102A probably benign Het
Mc4r T A 18: 66,859,821 N74Y probably damaging Het
Mink1 G T 11: 70,608,950 R773L possibly damaging Het
Mroh2b A G 15: 4,943,649 I1045V probably benign Het
Myo15 A T 11: 60,479,231 E939V possibly damaging Het
Ndufs7 T C 10: 80,252,421 I14T probably benign Het
Nlrp4b T C 7: 10,714,881 V337A probably benign Het
Npm2 T C 14: 70,652,620 probably null Het
Olfr1240 G A 2: 89,439,383 L299F probably damaging Het
Olfr479 T C 7: 108,055,435 F151S probably damaging Het
Olfr92 A G 17: 37,111,335 Y216H probably damaging Het
Prdm9 T A 17: 15,557,361 K154* probably null Het
Prkch C T 12: 73,775,516 P630S probably damaging Het
Ptprn T C 1: 75,252,767 probably null Het
Rnf31 T A 14: 55,603,394 D884E probably damaging Het
Slc22a27 A T 19: 7,926,450 N107K possibly damaging Het
Spata5 G A 3: 37,433,209 V407I probably benign Het
Tln1 G T 4: 43,540,597 A1468D probably damaging Het
Tmem63a G A 1: 180,963,114 D446N possibly damaging Het
Trappc11 T C 8: 47,505,316 probably benign Het
Vmn1r218 A T 13: 23,136,911 N63Y probably damaging Het
Vps37c A G 19: 10,706,268 D18G probably damaging Het
Other mutations in Tmem185b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02968:Tmem185b APN 1 119527121 missense possibly damaging 0.61
R5331:Tmem185b UTSW 1 119527592 utr 3 prime probably benign
R5965:Tmem185b UTSW 1 119526564 nonsense probably null
R5969:Tmem185b UTSW 1 119527463 missense probably benign 0.01
R6444:Tmem185b UTSW 1 119526635 missense probably damaging 1.00
R6709:Tmem185b UTSW 1 119526874 missense probably benign 0.00
R8903:Tmem185b UTSW 1 119526468 start gained probably benign
R8926:Tmem185b UTSW 1 119526676 missense probably benign 0.00
R9246:Tmem185b UTSW 1 119526638 missense probably damaging 0.96
Predicted Primers
Posted On 2017-05-11