Incidental Mutation 'IGL03102:Emc10'
ID 418797
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emc10
Ensembl Gene ENSMUSG00000008140
Gene Name ER membrane protein complex subunit 10
Synonyms 5430410O10Rik, 2310044H10Rik, Mirta22
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03102
Quality Score
Status
Chromosome 7
Chromosomal Location 44139361-44145953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44141413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 225 (N225I)
Ref Sequence ENSEMBL: ENSMUSP00000113141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000118515] [ENSMUST00000118808] [ENSMUST00000138328] [ENSMUST00000205422] [ENSMUST00000206398] [ENSMUST00000205359]
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: N225I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
AA Change: N225I

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 probably damaging
Transcript: ENSMUST00000118808
AA Change: N225I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
AA Change: N225I

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 noncoding transcript
Transcript: ENSMUST00000123928
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 noncoding transcript
Transcript: ENSMUST00000147102
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150342
Predicted Effect probably benign
Transcript: ENSMUST00000205422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206195
Predicted Effect probably benign
Transcript: ENSMUST00000206398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206033
Predicted Effect probably benign
Transcript: ENSMUST00000205359
Coding Region Coverage
Validation Efficiency
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,744,804 (GRCm39) probably null Het
Alyref G A 11: 120,488,591 (GRCm39) P79L possibly damaging Het
Arhgap28 T C 17: 68,203,231 (GRCm39) D74G probably damaging Het
Atp1a4 T A 1: 172,058,718 (GRCm39) D909V probably damaging Het
Cdc5l A T 17: 45,718,857 (GRCm39) D586E probably damaging Het
Chd3 G T 11: 69,252,022 (GRCm39) Y79* probably null Het
Cnot3 C A 7: 3,659,155 (GRCm39) S467* probably null Het
Col18a1 A T 10: 76,903,457 (GRCm39) probably benign Het
Col19a1 C A 1: 24,367,134 (GRCm39) G483C probably damaging Het
Col5a3 A C 9: 20,715,931 (GRCm39) probably null Het
Dctn5 A T 7: 121,732,382 (GRCm39) N9I probably benign Het
Fam219b A G 9: 57,447,981 (GRCm39) Y158C probably damaging Het
Fras1 T C 5: 96,874,394 (GRCm39) V2273A probably benign Het
Frem3 T A 8: 81,339,661 (GRCm39) H651Q possibly damaging Het
Gm4076 T A 13: 85,275,438 (GRCm39) noncoding transcript Het
Gpr35 A T 1: 92,910,299 (GRCm39) T4S probably benign Het
Ifnab T G 4: 88,609,062 (GRCm39) T135P possibly damaging Het
Jag1 T C 2: 136,926,608 (GRCm39) I979V probably benign Het
Kank1 G T 19: 25,403,282 (GRCm39) M1097I probably damaging Het
Kcnq3 A G 15: 65,900,637 (GRCm39) V206A probably damaging Het
Kel T C 6: 41,679,917 (GRCm39) K91R probably benign Het
Kirrel1 G T 3: 86,990,807 (GRCm39) R672S probably damaging Het
Kmt2d A G 15: 98,753,424 (GRCm39) M143T probably benign Het
Kpna1 A G 16: 35,833,289 (GRCm39) I122V probably damaging Het
Lrpap1 A G 5: 35,250,694 (GRCm39) S353P probably damaging Het
Mtfr1l T A 4: 134,259,543 (GRCm39) Q11L probably damaging Het
Muc5b G A 7: 141,416,806 (GRCm39) V3251M probably benign Het
Mup8 C T 4: 60,219,746 (GRCm39) D174N probably benign Het
Nup155 A T 15: 8,176,768 (GRCm39) E1015D probably benign Het
Or10ak14 C A 4: 118,611,131 (GRCm39) L201F probably benign Het
Or9i14 T C 19: 13,792,735 (GRCm39) Y73C probably damaging Het
P2rx7 T C 5: 122,801,668 (GRCm39) F188L possibly damaging Het
Pacrg A G 17: 11,058,719 (GRCm39) F13L probably benign Het
Palb2 A T 7: 121,723,722 (GRCm39) S676T possibly damaging Het
Pdia6 T A 12: 17,331,040 (GRCm39) probably null Het
Pfkm A T 15: 98,024,266 (GRCm39) I425F possibly damaging Het
Pikfyve C T 1: 65,291,626 (GRCm39) R1282* probably null Het
Pole C T 5: 110,444,939 (GRCm39) L432F probably damaging Het
Pramel25 T C 4: 143,520,116 (GRCm39) V120A possibly damaging Het
Prr5 G T 15: 84,650,508 (GRCm39) probably benign Het
Prxl2b T C 4: 154,981,058 (GRCm39) probably benign Het
Psat1 A G 19: 15,883,487 (GRCm39) Y343H probably damaging Het
Ptprj C T 2: 90,309,312 (GRCm39) R51K probably benign Het
Qars1 A G 9: 108,386,118 (GRCm39) D103G probably benign Het
Rims2 A T 15: 39,322,989 (GRCm39) I768F possibly damaging Het
Robo4 T A 9: 37,315,481 (GRCm39) V275E probably damaging Het
Ryr2 A G 13: 11,650,468 (GRCm39) probably benign Het
Sez6l T C 5: 112,623,269 (GRCm39) H94R probably benign Het
Slco1c1 T A 6: 141,490,553 (GRCm39) N211K possibly damaging Het
Strbp T C 2: 37,476,515 (GRCm39) probably benign Het
Tceanc2 T A 4: 107,004,878 (GRCm39) H90L probably damaging Het
Tdrkh A T 3: 94,331,844 (GRCm39) T90S possibly damaging Het
Tiam2 A G 17: 3,559,823 (GRCm39) D1288G probably damaging Het
Tln1 T C 4: 43,532,861 (GRCm39) D2447G possibly damaging Het
Tmem63c G A 12: 87,112,323 (GRCm39) V141M probably benign Het
Tpp2 T A 1: 43,995,649 (GRCm39) V268E probably damaging Het
Tprkb T A 6: 85,901,400 (GRCm39) C13S probably benign Het
Traf3ip3 T C 1: 192,877,385 (GRCm39) T184A probably damaging Het
Trpc6 T A 9: 8,649,302 (GRCm39) M504K probably benign Het
Ttn G T 2: 76,597,567 (GRCm39) S18036* probably null Het
Wdfy4 A T 14: 32,688,392 (GRCm39) C2914S probably damaging Het
Ylpm1 T A 12: 85,096,032 (GRCm39) probably benign Het
Zfp644 T C 5: 106,785,134 (GRCm39) H471R probably damaging Het
Zfp747l1 T C 7: 126,983,951 (GRCm39) T384A probably benign Het
Zfyve16 C T 13: 92,648,325 (GRCm39) E910K possibly damaging Het
Other mutations in Emc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8269:Emc10 UTSW 7 44,141,408 (GRCm39) missense possibly damaging 0.89
R8514:Emc10 UTSW 7 44,142,646 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02