Incidental Mutation 'R1335:Smco2'
ID156843
Institutional Source Beutler Lab
Gene Symbol Smco2
Ensembl Gene ENSMUSG00000030292
Gene Namesingle-pass membrane protein with coiled-coil domains 2
Synonyms1700023A16Rik
MMRRC Submission 039400-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1335 (G1)
Quality Score198
Status Validated
Chromosome6
Chromosomal Location146850104-146871406 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 146862087 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032433]
Predicted Effect probably benign
Transcript: ENSMUST00000032433
SMART Domains Protein: ENSMUSP00000032433
Gene: ENSMUSG00000030292

DomainStartEndE-ValueType
Pfam:TMCO5 1 121 3.6e-14 PFAM
Pfam:TMCO5 142 346 2.5e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205239
Meta Mutation Damage Score 0.0476 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.7%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph G A 13: 19,142,028 V643M probably damaging Het
Bid C T 6: 120,897,255 A110T possibly damaging Het
Cd209d T A 8: 3,872,027 D185V probably damaging Het
Cdc42bpb T C 12: 111,296,441 Y1484C probably damaging Het
Cdh9 T C 15: 16,850,792 V549A probably benign Het
Cmya5 C T 13: 93,041,535 V3604M possibly damaging Het
Eprs T A 1: 185,387,089 W489R probably damaging Het
Galnt14 T A 17: 73,526,290 I230F probably damaging Het
Gm19965 A G 1: 116,804,619 K64R possibly damaging Het
Gpr141 T G 13: 19,751,864 Y247S possibly damaging Het
Ivd A T 2: 118,869,442 H52L probably benign Het
Marc1 C T 1: 184,803,941 R98Q probably benign Het
Mcoln2 A G 3: 146,180,174 H260R probably benign Het
Mdga2 T C 12: 66,716,742 probably null Het
Ndrg3 T C 2: 156,946,008 probably benign Het
Olfr166 T C 16: 19,487,053 Y72H probably benign Het
Pcdhb17 A T 18: 37,486,234 N359I probably damaging Het
Phf24 G A 4: 42,934,657 V98I probably benign Het
Pkhd1 C A 1: 20,571,405 G270W probably damaging Het
Pkhd1l1 G A 15: 44,505,547 V863I probably damaging Het
Prss51 T G 14: 64,096,171 probably null Het
Scarb2 C T 5: 92,451,346 probably null Het
Simc1 ACCA ACCANNNNNNNNNNNNNNNNNNCCA 13: 54,525,265 probably benign Het
Slco1c1 T A 6: 141,542,127 Y192N probably damaging Het
Snx13 A G 12: 35,132,124 D724G probably benign Het
Stard9 C A 2: 120,673,636 S221R probably damaging Het
Sytl4 GAAAAAA GAAAAA X: 133,961,126 probably benign Het
Tnr A G 1: 159,868,030 T508A probably benign Het
Vmn1r30 A G 6: 58,435,095 S251P probably damaging Het
Zdhhc16 T A 19: 41,940,634 probably null Het
Other mutations in Smco2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01959:Smco2 APN 6 146861710 missense probably benign 0.38
IGL03082:Smco2 APN 6 146860044 missense possibly damaging 0.52
R0256:Smco2 UTSW 6 146861746 missense probably damaging 1.00
R0402:Smco2 UTSW 6 146871135 critical splice acceptor site probably benign
R1144:Smco2 UTSW 6 146871140 critical splice acceptor site probably benign
R2508:Smco2 UTSW 6 146859967 missense probably damaging 1.00
R4560:Smco2 UTSW 6 146871176 missense possibly damaging 0.94
R4701:Smco2 UTSW 6 146861942 intron probably benign
R4987:Smco2 UTSW 6 146856092 missense possibly damaging 0.59
R5322:Smco2 UTSW 6 146871287 missense probably damaging 1.00
R6764:Smco2 UTSW 6 146871329 missense probably damaging 0.99
R7023:Smco2 UTSW 6 146858856 nonsense probably null
R7090:Smco2 UTSW 6 146871213 missense probably damaging 0.97
R7220:Smco2 UTSW 6 146858865 missense probably benign
Predicted Primers PCR Primer
(F):5'- GCGTGTACCAAACAGACCTTAGCC -3'
(R):5'- GGTCACAGTCAGCGTCTTGCTTTC -3'

Sequencing Primer
(F):5'- GACCTTAGCCAGAGGAAGACC -3'
(R):5'- CGTCTTGCTTTCTAAGGACATGG -3'
Posted On2014-02-11