Incidental Mutation 'R8269:Emc10'
ID 639494
Institutional Source Beutler Lab
Gene Symbol Emc10
Ensembl Gene ENSMUSG00000008140
Gene Name ER membrane protein complex subunit 10
Synonyms 5430410O10Rik, 2310044H10Rik, Mirta22
MMRRC Submission 067693-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8269 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44139361-44145953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44141408 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 227 (Q227K)
Ref Sequence ENSEMBL: ENSMUSP00000113509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000118515] [ENSMUST00000118808] [ENSMUST00000138328] [ENSMUST00000205359] [ENSMUST00000205422] [ENSMUST00000206398]
AlphaFold Q3TAS6
Predicted Effect probably benign
Transcript: ENSMUST00000107927
SMART Domains Protein: ENSMUSP00000103560
Gene: ENSMUSG00000051113

DomainStartEndE-ValueType
low complexity region 70 85 N/A INTRINSIC
Pfam:DUF3699 91 160 5.6e-20 PFAM
coiled coil region 164 191 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118515
AA Change: Q227K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
AA Change: Q227K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 150 167 N/A INTRINSIC
low complexity region 239 251 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000118808
AA Change: Q227K

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
AA Change: Q227K

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 150 167 N/A INTRINSIC
transmembrane domain 221 243 N/A INTRINSIC
low complexity region 246 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138328
SMART Domains Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
low complexity region 154 171 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205359
Predicted Effect probably benign
Transcript: ENSMUST00000205422
Predicted Effect probably benign
Transcript: ENSMUST00000206398
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (51/51)
MGI Phenotype PHENOTYPE: Male mice homozygous for a gene trapped allele display improved glucose tolerance and reduced fertility, while female homozygotes exhibit an increased anxiety-related response. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox2 T C 14: 8,246,325 (GRCm38) T489A probably benign Het
Adgra3 A T 5: 50,121,079 (GRCm39) C850S probably damaging Het
Ago3 T A 4: 126,270,721 (GRCm39) K258* probably null Het
Akap11 G A 14: 78,750,818 (GRCm39) T523I Het
Amigo2 G T 15: 97,144,112 (GRCm39) N103K possibly damaging Het
Arfgap3 A C 15: 83,194,542 (GRCm39) S377A probably benign Het
Arhgap39 G T 15: 76,635,942 (GRCm39) Q98K probably benign Het
Atp1a4 T C 1: 172,059,892 (GRCm39) D779G probably damaging Het
Bckdhb T C 9: 84,004,417 (GRCm39) I388T probably benign Het
Ccpg1 G A 9: 72,913,001 (GRCm39) R179H probably damaging Het
Cd109 A G 9: 78,572,964 (GRCm39) K496R probably benign Het
Cnot1 A G 8: 96,478,389 (GRCm39) F979L probably damaging Het
Cyb5r1 T A 1: 134,334,803 (GRCm39) probably benign Het
D130040H23Rik T A 8: 69,755,800 (GRCm39) S402T probably benign Het
Dmtf1 A T 5: 9,182,500 (GRCm39) Y211* probably null Het
Dnah6 A G 6: 73,145,810 (GRCm39) probably null Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Exosc4 A T 15: 76,211,732 (GRCm39) I14L probably benign Het
Fat2 T C 11: 55,173,535 (GRCm39) T2393A possibly damaging Het
Flg2 A T 3: 93,109,187 (GRCm39) H405L possibly damaging Het
Gin1 T A 1: 97,710,929 (GRCm39) M204K probably damaging Het
Gm57858 A T 3: 36,100,862 (GRCm39) N103K possibly damaging Het
Gnal A G 18: 67,268,693 (GRCm39) D193G possibly damaging Het
Itpr3 G T 17: 27,312,258 (GRCm39) R554L possibly damaging Het
Lipc A G 9: 70,727,655 (GRCm39) L149P probably damaging Het
Lrrc37a A G 11: 103,388,724 (GRCm39) Y2234H unknown Het
Lsm14b T C 2: 179,674,407 (GRCm39) S317P probably damaging Het
Mapk4 G C 18: 74,063,622 (GRCm39) F533L probably damaging Het
Mgll T A 6: 88,790,930 (GRCm39) Y183* probably null Het
Mrrf T A 2: 36,037,973 (GRCm39) D81E possibly damaging Het
Ncan T A 8: 70,560,330 (GRCm39) Q879L probably benign Het
Nox4 T G 7: 86,955,930 (GRCm39) probably benign Het
Or4p18 A T 2: 88,232,381 (GRCm39) V299D probably damaging Het
Or5p67 A T 7: 107,922,776 (GRCm39) C36S probably benign Het
Pcdhb10 A G 18: 37,547,062 (GRCm39) K713E probably benign Het
Phkb A G 8: 86,756,211 (GRCm39) D835G probably benign Het
Pld1 A G 3: 28,079,388 (GRCm39) N63D probably benign Het
Pls1 G T 9: 95,644,023 (GRCm39) T491K probably damaging Het
Plscr1 A G 9: 92,145,095 (GRCm39) D35G unknown Het
Slc28a2b C T 2: 122,352,169 (GRCm39) H336Y probably damaging Het
Slc3a1 A G 17: 85,339,982 (GRCm39) K180R probably benign Het
Suv39h1 G T X: 7,937,270 (GRCm39) Q129K probably benign Het
Tbc1d8 A G 1: 39,465,169 (GRCm39) V73A probably benign Het
Tmem161a T A 8: 70,634,608 (GRCm39) V421E probably benign Het
Topbp1 C A 9: 103,205,792 (GRCm39) P810Q possibly damaging Het
Ttc28 G A 5: 111,425,325 (GRCm39) V1717M probably benign Het
Vmn2r55 T A 7: 12,404,585 (GRCm39) T273S possibly damaging Het
Vwa5b2 A G 16: 20,423,188 (GRCm39) D1062G probably damaging Het
Zcrb1 A G 15: 93,295,056 (GRCm39) Y27H probably benign Het
Zfp128 G A 7: 12,624,663 (GRCm39) G344R probably damaging Het
Other mutations in Emc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03102:Emc10 APN 7 44,141,413 (GRCm39) missense probably damaging 1.00
PIT4151001:Emc10 UTSW 7 44,142,627 (GRCm39) missense
R2016:Emc10 UTSW 7 44,142,616 (GRCm39) missense probably damaging 1.00
R2210:Emc10 UTSW 7 44,142,616 (GRCm39) missense probably damaging 1.00
R2211:Emc10 UTSW 7 44,142,616 (GRCm39) missense probably damaging 1.00
R2902:Emc10 UTSW 7 44,142,616 (GRCm39) missense probably damaging 1.00
R3104:Emc10 UTSW 7 44,142,616 (GRCm39) missense probably damaging 1.00
R3106:Emc10 UTSW 7 44,142,616 (GRCm39) missense probably damaging 1.00
R4840:Emc10 UTSW 7 44,142,051 (GRCm39) missense probably damaging 1.00
R4967:Emc10 UTSW 7 44,142,612 (GRCm39) critical splice donor site probably null
R5294:Emc10 UTSW 7 44,145,863 (GRCm39) unclassified probably benign
R8514:Emc10 UTSW 7 44,142,646 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCTCTGAACATGGGCTGC -3'
(R):5'- ATACATCTGTGCAGCTGCG -3'

Sequencing Primer
(F):5'- AGCGTTCCTGTCCACACCG -3'
(R):5'- GGCCTCCCAGCACTGCTC -3'
Posted On 2020-07-28