Incidental Mutation 'R7190:Tmem183a'
ID559523
Institutional Source Beutler Lab
Gene Symbol Tmem183a
Ensembl Gene ENSMUSG00000042305
Gene Nametransmembrane protein 183A
Synonyms1300007B12Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #R7190 (G1)
Quality Score225.009
Status Validated
Chromosome1
Chromosomal Location134346097-134361979 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 134354758 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 203 (I203N)
Ref Sequence ENSEMBL: ENSMUSP00000046786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049470] [ENSMUST00000185903] [ENSMUST00000191237]
Predicted Effect probably damaging
Transcript: ENSMUST00000049470
AA Change: I203N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046786
Gene: ENSMUSG00000042305
AA Change: I203N

DomainStartEndE-ValueType
low complexity region 110 122 N/A INTRINSIC
transmembrane domain 297 319 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185903
SMART Domains Protein: ENSMUSP00000141012
Gene: ENSMUSG00000042305

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 96 108 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000191237
AA Change: I203N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139821
Gene: ENSMUSG00000042305
AA Change: I203N

DomainStartEndE-ValueType
low complexity region 110 122 N/A INTRINSIC
Meta Mutation Damage Score 0.6442 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add3 C T 19: 53,216,899 R27* probably null Het
Armc3 T A 2: 19,293,136 Y573N probably damaging Het
BC024978 G A 7: 27,201,123 A176T probably damaging Het
Bod1l A C 5: 41,819,938 N1344K probably benign Het
Camta1 T G 4: 151,148,523 N231T possibly damaging Het
Capza2 T A 6: 17,654,121 Y57* probably null Het
Ccdc186 T A 19: 56,792,000 I871F probably damaging Het
Cntnap5b A G 1: 100,431,849 probably null Het
Dnah2 G T 11: 69,549,097 probably null Het
Fhod3 T C 18: 25,090,755 F1053L probably damaging Het
Foxj1 A G 11: 116,332,375 Y201H possibly damaging Het
Gatad2b T A 3: 90,350,415 I210N probably benign Het
Gba T A 3: 89,204,362 I112N probably damaging Het
Gbp2 T C 3: 142,633,447 V420A probably benign Het
Gm3106 T G 5: 94,218,237 N71K probably benign Het
Gm8251 A C 1: 44,061,615 S108A probably benign Het
Golga3 T A 5: 110,209,855 H1072Q probably damaging Het
Gpr150 C T 13: 76,055,873 A318T probably benign Het
Gpr6 T C 10: 41,070,960 N209D probably damaging Het
Grin2b T C 6: 135,732,948 N1200S possibly damaging Het
Ifi207 G A 1: 173,730,252 H307Y unknown Het
Il20ra A T 10: 19,742,941 I46F probably damaging Het
Lvrn A G 18: 46,900,503 D927G probably benign Het
Nlrc4 G T 17: 74,445,203 D728E probably damaging Het
Nup107 T C 10: 117,762,135 D630G probably benign Het
Olfr378 A T 11: 73,425,164 I273N probably benign Het
Olfr787 T C 10: 129,462,757 I27T probably benign Het
Pclo C A 5: 14,679,729 A2867D unknown Het
Perm1 A G 4: 156,219,815 T754A possibly damaging Het
Plpbp G T 8: 27,051,297 V162L probably benign Het
Plscr4 A T 9: 92,488,641 E220D probably benign Het
Ppp2r3a A T 9: 101,212,527 M199K probably benign Het
Rassf6 T C 5: 90,606,807 E204G probably damaging Het
Reln A C 5: 22,047,947 D667E probably damaging Het
Rere A G 4: 150,610,953 I462V unknown Het
Rpain A G 11: 70,971,909 E76G possibly damaging Het
Strc T G 2: 121,369,026 I1311L probably benign Het
Svil A G 18: 5,092,937 M1385V probably benign Het
Syne2 T A 12: 76,066,587 D1083E probably benign Het
Szt2 T A 4: 118,389,006 H986L probably damaging Het
Tcl1b2 G T 12: 105,147,234 probably null Het
Thy1 T A 9: 44,046,925 S117T possibly damaging Het
Tmprss11g T C 5: 86,496,632 I118V probably benign Het
Tsen34 T C 7: 3,694,807 V69A possibly damaging Het
Ttn T C 2: 76,886,799 Q7506R unknown Het
Vmn1r184 T C 7: 26,267,680 S284P probably damaging Het
Wdr19 A G 5: 65,240,862 D810G probably benign Het
Zer1 T C 2: 30,103,432 D554G probably damaging Het
Zfp626 A T 7: 27,818,343 T250S probably benign Het
Other mutations in Tmem183a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Tmem183a APN 1 134350144 missense probably damaging 1.00
R0611:Tmem183a UTSW 1 134352377 missense probably damaging 1.00
R0987:Tmem183a UTSW 1 134352371 missense probably damaging 1.00
R1444:Tmem183a UTSW 1 134361546 missense probably benign 0.00
R1589:Tmem183a UTSW 1 134354706 missense probably damaging 0.96
R2007:Tmem183a UTSW 1 134350123 missense probably damaging 1.00
R4735:Tmem183a UTSW 1 134360882 missense probably damaging 0.96
R4900:Tmem183a UTSW 1 134348166 missense probably benign 0.15
R6103:Tmem183a UTSW 1 134348146 missense probably benign 0.02
R6296:Tmem183a UTSW 1 134361611 missense probably damaging 1.00
R7702:Tmem183a UTSW 1 134360801 missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCTACAAGTTTACATGAGCCC -3'
(R):5'- TCACATGGAAGTTGGGGTCC -3'

Sequencing Primer
(F):5'- AGTTTACATGAGCCCCCTAATGG -3'
(R):5'- TCCTGGGAGGCTGAATAAGAAC -3'
Posted On2019-06-26