Incidental Mutation 'IGL01319:Emid1'
ID73971
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emid1
Ensembl Gene ENSMUSG00000034164
Gene NameEMI domain containing 1
SynonymsCO-5, Emu1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01319
Quality Score
Status
Chromosome11
Chromosomal Location5106265-5152257 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 5143859 bp
ZygosityHeterozygous
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]
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: 40,933,642 V307E probably benign Het
Bub1b T C 2: 118,614,994 I265T possibly damaging Het
Cntnap3 G A 13: 64,787,837 T404I probably damaging Het
Disc1 T C 8: 125,087,891 S165P probably damaging Het
Dock1 T C 7: 134,789,278 F756L probably benign Het
Dock2 A G 11: 34,698,790 V480A possibly damaging Het
Drc3 A G 11: 60,364,962 D125G probably null Het
F13b A G 1: 139,506,793 N99S probably damaging Het
Fam20a A G 11: 109,678,458 probably benign Het
Fancd2 C A 6: 113,584,899 T1243K probably damaging Het
Fbxw14 T C 9: 109,278,791 K172E probably damaging Het
Gm13941 T C 2: 111,094,805 probably null Het
Gtpbp4 A T 13: 8,985,260 N354K probably benign Het
Igkv2-116 T C 6: 68,152,404 L50P probably benign Het
Klrb1-ps1 C T 6: 129,116,585 P23L possibly damaging Het
Kng2 T A 16: 23,028,834 I26F probably damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Lrpprc T C 17: 84,705,412 probably benign Het
Man2a2 C T 7: 80,361,132 V704M possibly damaging Het
Mbip A G 12: 56,330,242 V303A probably benign Het
Mipep A T 14: 60,843,271 M571L probably benign Het
Ncan A T 8: 70,097,562 V1188D probably damaging Het
Pcdhb4 T C 18: 37,308,513 V292A probably benign Het
Pkd1 T C 17: 24,587,919 probably benign Het
Ppp2r2c T A 5: 36,947,121 S282T possibly damaging Het
Rad54l2 C T 9: 106,719,046 G231D probably benign Het
Rnf20 T G 4: 49,649,326 D443E probably damaging Het
Rptor A G 11: 119,891,170 M1108V probably benign Het
Serpine2 A G 1: 79,810,694 V182A probably damaging Het
Sesn2 C T 4: 132,499,967 probably benign Het
Shank1 C A 7: 44,353,123 A1422E possibly damaging Het
Slc13a4 C T 6: 35,307,353 probably null Het
Snrnp200 T C 2: 127,230,127 probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tbxas1 A G 6: 39,017,973 I178V probably benign Het
Tmem2 C T 19: 21,844,757 P1172L possibly damaging Het
Triml1 A G 8: 43,141,397 probably benign Het
Tsen2 A T 6: 115,576,984 Q441L probably damaging Het
Ttc23l A G 15: 10,509,406 probably benign Het
Ttc37 A G 13: 76,129,379 H491R probably benign Het
Ttn T C 2: 76,881,304 probably benign Het
Vsig10l C T 7: 43,465,254 S293L probably damaging Het
Zcchc13 C A X: 103,631,000 Q110K possibly damaging Het
Other mutations in Emid1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0024:Emid1 UTSW 11 5143869 missense probably damaging 1.00
R0063:Emid1 UTSW 11 5139704 intron probably benign
R0684:Emid1 UTSW 11 5143866 missense probably damaging 1.00
R2209:Emid1 UTSW 11 5135407 missense probably benign 0.01
R2266:Emid1 UTSW 11 5144331 missense probably damaging 0.97
R4913:Emid1 UTSW 11 5132012 missense probably benign 0.16
R4942:Emid1 UTSW 11 5129430 missense probably benign 0.16
R4993:Emid1 UTSW 11 5131512 missense probably benign 0.04
R6010:Emid1 UTSW 11 5135389 missense possibly damaging 0.55
R8261:Emid1 UTSW 11 5134353 missense probably benign 0.19
RF043:Emid1 UTSW 11 5144322 missense probably damaging 1.00
T0975:Emid1 UTSW 11 5128884 missense probably benign 0.35
T0975:Emid1 UTSW 11 5144386 missense probably damaging 1.00
Posted On2013-10-07