Incidental Mutation 'IGL02416:Emilin1'
ID 292445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emilin1
Ensembl Gene ENSMUSG00000029163
Gene Name elastin microfibril interfacer 1
Synonyms gp115, 5830419M17Rik, EMILIN-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL02416
Quality Score
Status
Chromosome 5
Chromosomal Location 31070746-31078621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31075132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 458 (S458G)
Ref Sequence ENSEMBL: ENSMUSP00000031055 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031053] [ENSMUST00000031055] [ENSMUST00000201571] [ENSMUST00000201621] [ENSMUST00000202752]
AlphaFold Q99K41
Predicted Effect probably benign
Transcript: ENSMUST00000031053
SMART Domains Protein: ENSMUSP00000031053
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 293 5.7e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000031055
AA Change: S458G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: S458G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:EMI 57 128 1.2e-19 PFAM
low complexity region 141 155 N/A INTRINSIC
low complexity region 157 171 N/A INTRINSIC
coiled coil region 174 210 N/A INTRINSIC
coiled coil region 237 263 N/A INTRINSIC
coiled coil region 310 342 N/A INTRINSIC
low complexity region 389 400 N/A INTRINSIC
internal_repeat_1 422 474 9.62e-7 PROSPERO
coiled coil region 527 563 N/A INTRINSIC
low complexity region 606 627 N/A INTRINSIC
low complexity region 629 639 N/A INTRINSIC
internal_repeat_1 704 758 9.62e-7 PROSPERO
low complexity region 780 810 N/A INTRINSIC
Pfam:Collagen 813 870 3.3e-10 PFAM
Pfam:C1q 873 1008 1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201169
Predicted Effect probably benign
Transcript: ENSMUST00000201571
SMART Domains Protein: ENSMUSP00000144226
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 70 2.4e-5 PFAM
Pfam:PfkB 65 249 4.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201621
SMART Domains Protein: ENSMUSP00000144050
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 294 1.5e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202368
Predicted Effect probably benign
Transcript: ENSMUST00000202752
SMART Domains Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 243 5.8e-18 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display no goss abnormalities. However, histological defects occur in the skin and aorta relating to elastin fiber abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,810,282 (GRCm39) N227S probably null Het
Adgrf5 T G 17: 43,755,871 (GRCm39) probably null Het
Arid2 G A 15: 96,247,936 (GRCm39) G116D possibly damaging Het
Arsa T A 15: 89,358,991 (GRCm39) H225L probably damaging Het
Atf6 T A 1: 170,574,726 (GRCm39) K571* probably null Het
Bicdl1 A C 5: 115,801,944 (GRCm39) L38R probably damaging Het
Cct4 T C 11: 22,952,868 (GRCm39) S515P probably damaging Het
Celsr3 A C 9: 108,709,318 (GRCm39) D1388A probably damaging Het
Clca3a2 T C 3: 144,790,777 (GRCm39) T432A probably benign Het
Des T A 1: 75,339,372 (GRCm39) probably null Het
Dock11 T A X: 35,283,739 (GRCm39) V1119E probably damaging Het
Dysf A G 6: 84,169,896 (GRCm39) N1763S possibly damaging Het
Fhdc1 T G 3: 84,352,535 (GRCm39) M897L probably benign Het
Foxj1 T C 11: 116,222,829 (GRCm39) S325G probably benign Het
Gm5407 A G 16: 49,117,250 (GRCm39) noncoding transcript Het
Gm6576 T C 15: 27,026,073 (GRCm39) noncoding transcript Het
Hells G A 19: 38,953,071 (GRCm39) S743N probably benign Het
Ighv2-9-1 A T 12: 113,733,731 (GRCm39) L30Q probably damaging Het
Iqgap1 A T 7: 80,375,786 (GRCm39) L1363H probably damaging Het
Lrp2 T C 2: 69,299,977 (GRCm39) D3025G probably damaging Het
Mef2d C T 3: 88,063,809 (GRCm39) R79C probably damaging Het
Mical1 G T 10: 41,360,806 (GRCm39) probably null Het
Micu2 A T 14: 58,161,422 (GRCm39) V300E probably damaging Het
Mmgt2 T C 11: 62,555,703 (GRCm39) L17P probably damaging Het
Or4p21 A G 2: 88,277,174 (GRCm39) I36T probably benign Het
Or7c19 T A 8: 85,957,662 (GRCm39) C179* probably null Het
Or7e177 A T 9: 20,211,541 (GRCm39) E15V probably benign Het
Pigb A G 9: 72,924,714 (GRCm39) S482P probably benign Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pou1f1 T C 16: 65,328,842 (GRCm39) I187T probably damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rabgap1 T C 2: 37,451,962 (GRCm39) I954T probably benign Het
Scube3 T G 17: 28,383,110 (GRCm39) C429W probably damaging Het
Slco6b1 T A 1: 96,852,058 (GRCm39) noncoding transcript Het
Strc A T 2: 121,199,539 (GRCm39) I1300N probably damaging Het
Tdrd6 T A 17: 43,935,629 (GRCm39) R1806S probably benign Het
Trpm8 T A 1: 88,288,438 (GRCm39) L860Q probably damaging Het
Vmn1r8 A G 6: 57,013,605 (GRCm39) R219G probably damaging Het
Wdr48 A G 9: 119,753,826 (GRCm39) S649G probably damaging Het
Other mutations in Emilin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Emilin1 APN 5 31,071,246 (GRCm39) missense probably damaging 0.97
IGL01100:Emilin1 APN 5 31,075,748 (GRCm39) missense probably benign
IGL02150:Emilin1 APN 5 31,077,517 (GRCm39) missense possibly damaging 0.85
IGL02973:Emilin1 APN 5 31,078,007 (GRCm39) missense probably damaging 0.97
R0142:Emilin1 UTSW 5 31,071,264 (GRCm39) missense probably benign 0.00
R0419:Emilin1 UTSW 5 31,072,366 (GRCm39) missense probably damaging 1.00
R1580:Emilin1 UTSW 5 31,074,764 (GRCm39) missense probably damaging 0.99
R1679:Emilin1 UTSW 5 31,077,543 (GRCm39) missense probably benign 0.00
R1802:Emilin1 UTSW 5 31,075,082 (GRCm39) missense possibly damaging 0.68
R1803:Emilin1 UTSW 5 31,075,082 (GRCm39) missense possibly damaging 0.68
R1864:Emilin1 UTSW 5 31,075,934 (GRCm39) missense probably damaging 1.00
R1958:Emilin1 UTSW 5 31,075,160 (GRCm39) missense probably benign 0.03
R2061:Emilin1 UTSW 5 31,075,082 (GRCm39) missense possibly damaging 0.68
R2100:Emilin1 UTSW 5 31,075,241 (GRCm39) missense probably benign 0.01
R2201:Emilin1 UTSW 5 31,073,036 (GRCm39) missense probably benign 0.33
R2206:Emilin1 UTSW 5 31,075,082 (GRCm39) missense possibly damaging 0.68
R2274:Emilin1 UTSW 5 31,075,082 (GRCm39) missense possibly damaging 0.68
R2275:Emilin1 UTSW 5 31,075,082 (GRCm39) missense possibly damaging 0.68
R2285:Emilin1 UTSW 5 31,075,544 (GRCm39) missense probably damaging 1.00
R2851:Emilin1 UTSW 5 31,074,509 (GRCm39) missense probably benign 0.38
R3706:Emilin1 UTSW 5 31,075,166 (GRCm39) missense possibly damaging 0.47
R4205:Emilin1 UTSW 5 31,077,243 (GRCm39) unclassified probably benign
R4865:Emilin1 UTSW 5 31,075,128 (GRCm39) missense possibly damaging 0.93
R4878:Emilin1 UTSW 5 31,074,410 (GRCm39) missense probably benign
R4981:Emilin1 UTSW 5 31,076,695 (GRCm39) missense probably benign
R5113:Emilin1 UTSW 5 31,077,964 (GRCm39) missense possibly damaging 0.73
R5232:Emilin1 UTSW 5 31,074,323 (GRCm39) missense probably benign 0.00
R5853:Emilin1 UTSW 5 31,075,966 (GRCm39) missense probably damaging 0.98
R6358:Emilin1 UTSW 5 31,075,562 (GRCm39) missense probably damaging 0.98
R6807:Emilin1 UTSW 5 31,072,871 (GRCm39) missense probably benign 0.10
R6932:Emilin1 UTSW 5 31,074,421 (GRCm39) missense probably damaging 1.00
R6955:Emilin1 UTSW 5 31,075,253 (GRCm39) missense probably damaging 1.00
R7047:Emilin1 UTSW 5 31,074,422 (GRCm39) missense probably benign 0.05
R7278:Emilin1 UTSW 5 31,078,004 (GRCm39) missense probably benign 0.32
R7305:Emilin1 UTSW 5 31,074,433 (GRCm39) nonsense probably null
R8087:Emilin1 UTSW 5 31,074,444 (GRCm39) missense probably damaging 1.00
R8208:Emilin1 UTSW 5 31,074,860 (GRCm39) missense probably damaging 1.00
R8516:Emilin1 UTSW 5 31,074,515 (GRCm39) missense probably damaging 1.00
R8686:Emilin1 UTSW 5 31,075,040 (GRCm39) missense possibly damaging 0.85
R9224:Emilin1 UTSW 5 31,074,823 (GRCm39) missense probably damaging 1.00
R9526:Emilin1 UTSW 5 31,075,484 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16