Incidental Mutation 'R3104:Emc10'
ID262960
Institutional Source Beutler Lab
Gene Symbol Emc10
Ensembl Gene ENSMUSG00000008140
Gene NameER membrane protein complex subunit 10
Synonyms
MMRRC Submission 040578-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3104 (G1)
Quality Score186
Status Validated
Chromosome7
Chromosomal Location44489937-44496529 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 44493192 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 109 (R109W)
Ref Sequence ENSEMBL: ENSMUSP00000116293 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107927] [ENSMUST00000118515] [ENSMUST00000118808] [ENSMUST00000138328] [ENSMUST00000205359] [ENSMUST00000205422] [ENSMUST00000206398]
Predicted Effect probably damaging
Transcript: ENSMUST00000008284
AA Change: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008284
Gene: ENSMUSG00000008140
AA Change: R109W

DomainStartEndE-ValueType
signal peptide 1 37 N/A INTRINSIC
low complexity region 160 177 N/A INTRINSIC
transmembrane domain 231 253 N/A INTRINSIC
low complexity region 256 265 N/A INTRINSIC
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: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113141
Gene: ENSMUSG00000008140
AA Change: R109W

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: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113509
Gene: ENSMUSG00000008140
AA Change: R109W

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 damaging
Transcript: ENSMUST00000138328
AA Change: R109W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116293
Gene: ENSMUSG00000008140
AA Change: R109W

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: ENSMUST00000205359
Predicted Effect probably benign
Transcript: ENSMUST00000205422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206033
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206195
Predicted Effect probably benign
Transcript: ENSMUST00000206398
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206965
Meta Mutation Damage Score 0.216 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ash1l T A 3: 89,054,386 V2355E probably damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 128,125,077 probably null Het
Bmp4 G A 14: 46,385,981 A36V probably benign Het
Ccdc191 T C 16: 43,931,210 F301S probably damaging Het
Cdh9 T C 15: 16,855,814 S647P probably damaging Het
Cntln C T 4: 84,957,169 T280M possibly damaging Het
Coch A G 12: 51,603,421 T398A probably benign Het
Col6a3 T C 1: 90,816,302 R515G probably damaging Het
Csmd1 A G 8: 17,027,231 Y137H probably damaging Het
Ctnnal1 G A 4: 56,813,246 L662F probably benign Het
Cyp19a1 T C 9: 54,186,799 I60V probably benign Het
Cyp2c68 C T 19: 39,734,313 V264I probably benign Het
Dbx1 A T 7: 49,636,669 L16H probably damaging Het
Dgkg T A 16: 22,575,341 T321S probably damaging Het
Dnah7c T A 1: 46,798,279 Y3951N probably damaging Het
Fam124b T A 1: 80,213,031 I212F probably damaging Het
Fam187b A G 7: 30,977,240 D58G probably benign Het
Galnt4 T C 10: 99,109,381 Y323H probably benign Het
Gfpt1 A G 6: 87,057,646 D142G probably benign Het
Gm5174 A G 10: 86,656,655 noncoding transcript Het
Gtf2ird2 G A 5: 134,208,915 D278N probably benign Het
Herc2 T A 7: 56,135,355 D1480E probably benign Het
Hnf4g T G 3: 3,652,856 S388R probably benign Het
Il1rap A G 16: 26,722,752 E581G probably benign Het
Itpr2 A T 6: 146,312,837 probably null Het
Lgr6 A G 1: 135,000,472 probably null Het
Lmod2 A C 6: 24,604,472 K482T probably damaging Het
Magi3 A G 3: 104,051,320 V483A probably damaging Het
Ncam2 A G 16: 81,465,710 probably benign Het
Nphs1 C A 7: 30,467,540 S724* probably null Het
Olfr1094 T C 2: 86,829,691 M313T probably benign Het
Osgep T C 14: 50,916,829 T225A probably benign Het
Pcdhgc5 A G 18: 37,821,674 E667G possibly damaging Het
Plce1 C T 19: 38,620,519 P424L probably benign Het
Plekhg5 C T 4: 152,112,178 T694M probably damaging Het
Prkag2 T A 5: 24,871,069 K233* probably null Het
Prune2 T A 19: 17,119,156 S675T probably damaging Het
Sars C T 3: 108,429,305 R302H probably damaging Het
Sfmbt1 G A 14: 30,817,796 C847Y probably damaging Het
Sparcl1 T C 5: 104,093,337 T74A probably benign Het
Sppl2b A G 10: 80,867,491 E529G probably benign Het
Stradb C A 1: 58,992,291 H212Q possibly damaging Het
Tkfc G T 19: 10,596,993 C198* probably null Het
Tm4sf4 C T 3: 57,437,622 R150C possibly damaging Het
Tmem212 T C 3: 27,884,870 S156G probably damaging Het
Tmem51 T C 4: 142,037,724 N8D probably damaging Het
Tmigd1 A G 11: 76,910,298 T204A possibly damaging Het
Tsga10 G A 1: 37,801,791 L445F probably damaging Het
Unc80 G A 1: 66,623,291 V1768I probably benign Het
Urb1 C T 16: 90,795,443 V310I probably damaging Het
Usp29 T A 7: 6,962,053 C298* probably null Het
Usp8 T C 2: 126,758,512 V1050A probably damaging Het
Vmn1r38 T C 6: 66,776,446 T229A probably benign Het
Yes1 T C 5: 32,653,171 S195P probably damaging Het
Other mutations in Emc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03102:Emc10 APN 7 44491989 missense probably damaging 1.00
PIT4151001:Emc10 UTSW 7 44493203 missense
R2016:Emc10 UTSW 7 44493192 missense probably damaging 1.00
R2210:Emc10 UTSW 7 44493192 missense probably damaging 1.00
R2211:Emc10 UTSW 7 44493192 missense probably damaging 1.00
R2902:Emc10 UTSW 7 44493192 missense probably damaging 1.00
R3106:Emc10 UTSW 7 44493192 missense probably damaging 1.00
R4840:Emc10 UTSW 7 44492627 missense probably damaging 1.00
R4967:Emc10 UTSW 7 44493188 critical splice donor site probably null
R5294:Emc10 UTSW 7 44496439 unclassified probably benign
Predicted Primers PCR Primer
(F):5'- AGCAAACCACGTTTCCCTG -3'
(R):5'- AGTCAGGCACTTGTGACAGC -3'

Sequencing Primer
(F):5'- TCCCTCAAACTGGGCAGAAG -3'
(R):5'- ACTTGTGACAGCTAGGCCTG -3'
Posted On2015-02-05