Incidental Mutation 'R9185:Tmem191'
ID 697342
Institutional Source Beutler Lab
Gene Symbol Tmem191
Ensembl Gene ENSMUSG00000055692
Gene Name transmembrane protein 191
Synonyms MNCb-4137, 4933405M22Rik, Tmem191c, D16Bwg1494e
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R9185 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 17094164-17096525 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 17094302 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 42 (R42H)
Ref Sequence ENSEMBL: ENSMUSP00000131127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036161] [ENSMUST00000164950] [ENSMUST00000232232] [ENSMUST00000232364]
AlphaFold Q9JJB1
Predicted Effect probably benign
Transcript: ENSMUST00000036161
SMART Domains Protein: ENSMUSP00000036162
Gene: ENSMUSG00000041720

DomainStartEndE-ValueType
low complexity region 198 221 N/A INTRINSIC
low complexity region 243 253 N/A INTRINSIC
SCOP:d1gw5a_ 268 675 2e-3 SMART
low complexity region 895 907 N/A INTRINSIC
PI3Ka 1483 1671 2.11e-54 SMART
Blast:PI3Kc 1688 1762 2e-39 BLAST
PI3Kc 1788 2041 4.04e-106 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164950
AA Change: R42H

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000131127
Gene: ENSMUSG00000055692
AA Change: R42H

DomainStartEndE-ValueType
coiled coil region 5 112 N/A INTRINSIC
Pfam:TMEM191C 182 302 1.5e-68 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000232167
Predicted Effect probably benign
Transcript: ENSMUST00000232232
Predicted Effect probably benign
Transcript: ENSMUST00000232364
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (71/71)
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,177,421 (GRCm39) H312R possibly damaging Het
Aloxe3 T C 11: 69,025,114 (GRCm39) F409S probably damaging Het
Arfgef1 T A 1: 10,215,004 (GRCm39) N1630I probably damaging Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Cbl A G 9: 44,064,137 (GRCm39) S800P probably damaging Het
Ccne1 A T 7: 37,799,255 (GRCm39) S220T probably benign Het
Cd177 T C 7: 24,443,668 (GRCm39) Y810C probably benign Het
Cercam T C 2: 29,766,033 (GRCm39) V304A possibly damaging Het
Cfap100 T C 6: 90,390,416 (GRCm39) T75A Het
Clcn4 T A 7: 7,287,197 (GRCm39) I744F possibly damaging Het
Col15a1 G C 4: 47,288,200 (GRCm39) probably benign Het
Col27a1 A G 4: 63,246,887 (GRCm39) N1670S unknown Het
Cps1 G A 1: 67,248,831 (GRCm39) R1186Q probably benign Het
Cr1l C A 1: 194,797,053 (GRCm39) C328F probably damaging Het
Crybg1 T A 10: 43,880,091 (GRCm39) T366S probably benign Het
Ctbp2 A T 7: 132,615,712 (GRCm39) S408T probably damaging Het
Dync1h1 T C 12: 110,601,937 (GRCm39) S1992P probably benign Het
Glyatl3 A T 17: 41,225,234 (GRCm39) V3E probably damaging Het
Gse1 T C 8: 121,294,908 (GRCm39) M343T possibly damaging Het
Gys2 T C 6: 142,405,112 (GRCm39) D225G probably damaging Het
Hecw1 T C 13: 14,491,628 (GRCm39) S42G probably damaging Het
Helz2 A G 2: 180,871,883 (GRCm39) C2673R probably benign Het
Hivep1 G A 13: 42,337,975 (GRCm39) V2685I possibly damaging Het
Icam5 A G 9: 20,950,165 (GRCm39) E908G probably damaging Het
Kcne1 A T 16: 92,145,796 (GRCm39) L16Q possibly damaging Het
Kcnk5 G T 14: 20,195,135 (GRCm39) Y118* probably null Het
Kctd11 T C 11: 69,770,676 (GRCm39) T121A possibly damaging Het
Mier3 T C 13: 111,851,260 (GRCm39) V414A probably benign Het
Mindy4 T C 6: 55,295,261 (GRCm39) S734P possibly damaging Het
Mrps26 T C 2: 130,405,769 (GRCm39) V24A probably benign Het
Mug2 C G 6: 122,054,442 (GRCm39) Q1074E probably benign Het
Myo15b T C 11: 115,771,255 (GRCm39) S1P unknown Het
Ninj1 A T 13: 49,344,726 (GRCm39) T81S probably benign Het
Nod2 A T 8: 89,391,880 (GRCm39) H729L probably damaging Het
Nr1i3 G A 1: 171,043,955 (GRCm39) V49I possibly damaging Het
Olfm5 G A 7: 103,810,095 (GRCm39) Q89* probably null Het
Or10ag52 A T 2: 87,044,174 (GRCm39) T313S probably benign Het
Or2n1b A T 17: 38,459,754 (GRCm39) I92F probably damaging Het
Or2y12 T C 11: 49,426,501 (GRCm39) V163A probably benign Het
Or4e1 A G 14: 52,700,984 (GRCm39) S161P probably benign Het
Or51a25 C T 7: 102,373,409 (GRCm39) R96H possibly damaging Het
Or5aq6 A C 2: 86,923,200 (GRCm39) D180E possibly damaging Het
Or5b124 A T 19: 13,610,765 (GRCm39) T97S probably benign Het
Or8g53 T A 9: 39,683,404 (GRCm39) T231S probably benign Het
Pde4dip T A 3: 97,666,132 (GRCm39) T371S probably benign Het
Pkhd1l1 T A 15: 44,453,019 (GRCm39) S3981R probably benign Het
Plxnd1 G T 6: 115,934,526 (GRCm39) F1802L probably damaging Het
Pramel22 T C 4: 143,381,898 (GRCm39) N266S probably benign Het
Prcp A G 7: 92,582,257 (GRCm39) H449R probably benign Het
Prrc2c A G 1: 162,532,212 (GRCm39) W1468R unknown Het
Rcvrn A G 11: 67,586,480 (GRCm39) T80A possibly damaging Het
Rhou T C 8: 124,387,793 (GRCm39) L175P probably damaging Het
Sacs T C 14: 61,444,115 (GRCm39) S2054P probably damaging Het
Slc22a30 A G 19: 8,321,917 (GRCm39) S414P probably benign Het
Slc2a13 T A 15: 91,227,906 (GRCm39) S429C probably damaging Het
Slc35b3 A G 13: 39,123,958 (GRCm39) probably benign Het
Smyd3 A G 1: 178,877,854 (GRCm39) probably null Het
Strip1 T A 3: 107,535,530 (GRCm39) E64D probably damaging Het
Sumf2 T G 5: 129,875,909 (GRCm39) C25G possibly damaging Het
Syngap1 A C 17: 27,182,057 (GRCm39) D1190A possibly damaging Het
Tas2r139 C T 6: 42,118,099 (GRCm39) T77I probably benign Het
Tbce A T 13: 14,173,027 (GRCm39) V468D probably damaging Het
Tmem200c T C 17: 69,147,633 (GRCm39) V72A probably damaging Het
Ttc28 T G 5: 111,371,342 (GRCm39) F628C probably benign Het
Wsb2 G A 5: 117,501,736 (GRCm39) V34M possibly damaging Het
Zfand6 A G 7: 84,283,558 (GRCm39) S15P probably damaging Het
Zfp964 A G 8: 70,115,873 (GRCm39) N158D possibly damaging Het
Zic1 G T 9: 91,246,542 (GRCm39) Q177K probably benign Het
Zswim4 T C 8: 84,963,633 (GRCm39) M1V probably null Het
Other mutations in Tmem191
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01818:Tmem191 APN 16 17,095,594 (GRCm39) missense possibly damaging 0.95
IGL03146:Tmem191 APN 16 17,095,246 (GRCm39) missense probably damaging 0.96
R1037:Tmem191 UTSW 16 17,094,347 (GRCm39) unclassified probably benign
R1473:Tmem191 UTSW 16 17,095,826 (GRCm39) splice site probably null
R1551:Tmem191 UTSW 16 17,095,984 (GRCm39) missense probably damaging 0.97
R5070:Tmem191 UTSW 16 17,095,559 (GRCm39) missense probably null 0.99
R5161:Tmem191 UTSW 16 17,094,743 (GRCm39) missense possibly damaging 0.93
R5987:Tmem191 UTSW 16 17,094,334 (GRCm39) critical splice donor site probably null
R6696:Tmem191 UTSW 16 17,100,886 (GRCm39) splice site probably null
R9358:Tmem191 UTSW 16 17,094,257 (GRCm39) missense probably damaging 0.96
R9424:Tmem191 UTSW 16 17,094,526 (GRCm39) nonsense probably null
R9576:Tmem191 UTSW 16 17,094,526 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTGCTGCCTATTGTGACG -3'
(R):5'- GCTCGTGATGCTTGACTTCG -3'

Sequencing Primer
(F):5'- TATTGTGACGCGGGCCAC -3'
(R):5'- GACTTCGTCTCCGCTGCAG -3'
Posted On 2022-02-07