Incidental Mutation 'IGL01319:Emid1'
ID 73971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emid1
Ensembl Gene ENSMUSG00000034164
Gene Name EMI domain containing 1
Synonyms CO-5, Emu1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01319
Quality Score
Status
Chromosome 11
Chromosomal Location 5056265-5102257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 5093859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 96 (C96Y)
Ref Sequence ENSEMBL: ENSMUSP00000124431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062821] [ENSMUST00000156492] [ENSMUST00000163299]
AlphaFold Q91VF5
Predicted Effect probably damaging
Transcript: ENSMUST00000062821
AA Change: C96Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061704
Gene: ENSMUSG00000034164
AA Change: C96Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 34 101 8.7e-18 PFAM
low complexity region 200 211 N/A INTRINSIC
low complexity region 220 267 N/A INTRINSIC
Pfam:Collagen 282 342 5e-10 PFAM
Pfam:Collagen 312 377 4.2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138551
Predicted Effect probably damaging
Transcript: ENSMUST00000156492
AA Change: C96Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124431
Gene: ENSMUSG00000034164
AA Change: C96Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 33 103 3.5e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163299
AA Change: C94Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131391
Gene: ENSMUSG00000034164
AA Change: C94Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:EMI 33 101 7.3e-24 PFAM
low complexity region 198 209 N/A INTRINSIC
low complexity region 218 265 N/A INTRINSIC
Pfam:Collagen 280 340 5.1e-10 PFAM
Pfam:Collagen 310 375 4.3e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,888,077 (GRCm39) V307E probably benign Het
Bub1b T C 2: 118,445,475 (GRCm39) I265T possibly damaging Het
Cemip2 C T 19: 21,822,121 (GRCm39) P1172L possibly damaging Het
Cntnap3 G A 13: 64,935,651 (GRCm39) T404I probably damaging Het
Disc1 T C 8: 125,814,630 (GRCm39) S165P probably damaging Het
Dock1 T C 7: 134,391,007 (GRCm39) F756L probably benign Het
Dock2 A G 11: 34,589,617 (GRCm39) V480A possibly damaging Het
Drc3 A G 11: 60,255,788 (GRCm39) D125G probably null Het
F13b A G 1: 139,434,531 (GRCm39) N99S probably damaging Het
Fam20a A G 11: 109,569,284 (GRCm39) probably benign Het
Fancd2 C A 6: 113,561,860 (GRCm39) T1243K probably damaging Het
Fbxw14 T C 9: 109,107,859 (GRCm39) K172E probably damaging Het
Gm13941 T C 2: 110,925,150 (GRCm39) probably null Het
Gtpbp4 A T 13: 9,035,296 (GRCm39) N354K probably benign Het
Igkv2-116 T C 6: 68,129,388 (GRCm39) L50P probably benign Het
Klrb1-ps1 C T 6: 129,093,548 (GRCm39) P23L possibly damaging Het
Kng2 T A 16: 22,847,584 (GRCm39) I26F probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrpprc T C 17: 85,012,840 (GRCm39) probably benign Het
Man2a2 C T 7: 80,010,880 (GRCm39) V704M possibly damaging Het
Mbip A G 12: 56,377,027 (GRCm39) V303A probably benign Het
Mipep A T 14: 61,080,720 (GRCm39) M571L probably benign Het
Ncan A T 8: 70,550,212 (GRCm39) V1188D probably damaging Het
Pcdhb4 T C 18: 37,441,566 (GRCm39) V292A probably benign Het
Pkd1 T C 17: 24,806,893 (GRCm39) probably benign Het
Ppp2r2c T A 5: 37,104,465 (GRCm39) S282T possibly damaging Het
Rad54l2 C T 9: 106,596,245 (GRCm39) G231D probably benign Het
Rnf20 T G 4: 49,649,326 (GRCm39) D443E probably damaging Het
Rptor A G 11: 119,781,996 (GRCm39) M1108V probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Sesn2 C T 4: 132,227,278 (GRCm39) probably benign Het
Shank1 C A 7: 44,002,547 (GRCm39) A1422E possibly damaging Het
Skic3 A G 13: 76,277,498 (GRCm39) H491R probably benign Het
Slc13a4 C T 6: 35,284,288 (GRCm39) probably null Het
Snrnp200 T C 2: 127,072,047 (GRCm39) probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tbxas1 A G 6: 38,994,907 (GRCm39) I178V probably benign Het
Triml1 A G 8: 43,594,434 (GRCm39) probably benign Het
Tsen2 A T 6: 115,553,945 (GRCm39) Q441L probably damaging Het
Ttc23l A G 15: 10,509,492 (GRCm39) probably benign Het
Ttn T C 2: 76,711,648 (GRCm39) probably benign Het
Vsig10l C T 7: 43,114,678 (GRCm39) S293L probably damaging Het
Zcchc13 C A X: 102,674,606 (GRCm39) Q110K possibly damaging Het
Other mutations in Emid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0024:Emid1 UTSW 11 5,093,869 (GRCm39) missense probably damaging 1.00
R0063:Emid1 UTSW 11 5,139,704 (GRCm38) intron probably benign
R0684:Emid1 UTSW 11 5,093,866 (GRCm39) missense probably damaging 1.00
R2209:Emid1 UTSW 11 5,085,407 (GRCm39) missense probably benign 0.01
R2266:Emid1 UTSW 11 5,094,331 (GRCm39) missense probably damaging 0.97
R4913:Emid1 UTSW 11 5,082,012 (GRCm39) missense probably benign 0.16
R4942:Emid1 UTSW 11 5,079,430 (GRCm39) missense probably benign 0.16
R4993:Emid1 UTSW 11 5,081,512 (GRCm39) missense probably benign 0.04
R6010:Emid1 UTSW 11 5,085,389 (GRCm39) missense possibly damaging 0.55
R8261:Emid1 UTSW 11 5,084,353 (GRCm39) missense probably benign 0.19
R8786:Emid1 UTSW 11 5,081,517 (GRCm39) missense probably benign
RF043:Emid1 UTSW 11 5,094,322 (GRCm39) missense probably damaging 1.00
T0975:Emid1 UTSW 11 5,094,386 (GRCm39) missense probably damaging 1.00
T0975:Emid1 UTSW 11 5,078,884 (GRCm39) missense probably benign 0.35
Posted On 2013-10-07