Incidental Mutation 'R1803:Emilin1'
ID 203274
Institutional Source Beutler Lab
Gene Symbol Emilin1
Ensembl Gene ENSMUSG00000029163
Gene Name elastin microfibril interfacer 1
Synonyms gp115, 5830419M17Rik, EMILIN-1
MMRRC Submission 039833-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # R1803 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31070746-31078621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 31075082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 441 (P441L)
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: P441L

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: P441L

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
Meta Mutation Damage Score 0.0622 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A T 17: 79,935,095 (GRCm39) probably benign Het
Adgrl3 C T 5: 81,919,464 (GRCm39) R586* probably null Het
Arpp21 T C 9: 111,956,466 (GRCm39) T471A possibly damaging Het
Blnk T C 19: 40,940,821 (GRCm39) E194G probably damaging Het
Cd44 G A 2: 102,664,597 (GRCm39) P332S probably damaging Het
Cd47 T C 16: 49,688,169 (GRCm39) F30L possibly damaging Het
Cdh23 T C 10: 60,167,060 (GRCm39) E1861G probably damaging Het
Cdkal1 T A 13: 29,701,454 (GRCm39) M332L probably damaging Het
Cul9 A G 17: 46,814,023 (GRCm39) S2284P probably damaging Het
Cyp2a5 G T 7: 26,534,971 (GRCm39) probably null Het
Dcp2 T C 18: 44,528,984 (GRCm39) I33T probably damaging Het
Ddx52 A T 11: 83,836,958 (GRCm39) I150L probably damaging Het
Dennd5a T A 7: 109,497,820 (GRCm39) T1067S probably benign Het
Dnpep A T 1: 75,286,058 (GRCm39) L419* probably null Het
Dock8 A G 19: 25,109,599 (GRCm39) K927R probably benign Het
Dpy19l4 A T 4: 11,281,020 (GRCm39) V475E possibly damaging Het
Edf1 C T 2: 25,450,206 (GRCm39) S41F probably damaging Het
Elapor2 A G 5: 9,477,832 (GRCm39) H410R probably benign Het
Epha3 T C 16: 63,422,651 (GRCm39) K579E probably benign Het
Exoc1 A G 5: 76,709,288 (GRCm39) N23S probably benign Het
Flt3 C A 5: 147,303,865 (GRCm39) E358* probably null Het
Fzd1 A T 5: 4,806,385 (GRCm39) I399K probably damaging Het
Gdi2 T A 13: 3,614,547 (GRCm39) Y333* probably null Het
Gm10479 A G 12: 20,483,654 (GRCm39) H91R probably benign Het
Gm10842 G A 11: 105,037,867 (GRCm39) R50K unknown Het
Grin2c A T 11: 115,151,558 (GRCm39) probably null Het
Grk2 C T 19: 4,344,911 (GRCm39) V53M probably damaging Het
H2-M10.2 C T 17: 36,596,763 (GRCm39) M104I probably benign Het
Hyou1 C T 9: 44,295,479 (GRCm39) Q290* probably null Het
Inka1 A G 9: 107,861,938 (GRCm39) V128A probably benign Het
Itgb2 T C 10: 77,400,624 (GRCm39) S746P probably benign Het
Jmjd7 C T 2: 119,860,589 (GRCm39) L39F probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klhl2 T C 8: 65,212,831 (GRCm39) E236G probably damaging Het
Krtap19-4 C A 16: 88,681,879 (GRCm39) G26C unknown Het
Krtap4-16 G A 11: 99,741,998 (GRCm39) T134I possibly damaging Het
Lamb2 A G 9: 108,365,298 (GRCm39) H1318R probably benign Het
Mab21l3 G A 3: 101,742,446 (GRCm39) T38M probably benign Het
Mfsd10 A T 5: 34,794,094 (GRCm39) D6E possibly damaging Het
Mnat1 G T 12: 73,226,007 (GRCm39) G91* probably null Het
Mns1 A T 9: 72,360,016 (GRCm39) I389F probably damaging Het
Morc1 A T 16: 48,443,001 (GRCm39) T829S probably benign Het
Morn5 T A 2: 35,943,089 (GRCm39) V63E probably benign Het
Mybpc1 T C 10: 88,389,157 (GRCm39) T404A possibly damaging Het
Npc1l1 A T 11: 6,178,846 (GRCm39) M188K probably damaging Het
Nrcam T A 12: 44,618,991 (GRCm39) M846K probably benign Het
Nup210 A C 6: 91,051,264 (GRCm39) F373C probably damaging Het
Or4k49 G T 2: 111,495,099 (GRCm39) S176I probably damaging Het
Or5b111 A T 19: 13,291,535 (GRCm39) V38E possibly damaging Het
Or7g18 T C 9: 18,787,376 (GRCm39) V248A probably damaging Het
Osbpl8 T C 10: 111,110,910 (GRCm39) S471P probably damaging Het
Plekhn1 A T 4: 156,306,838 (GRCm39) I517N probably benign Het
Plin4 G T 17: 56,411,931 (GRCm39) T700K probably damaging Het
Plxna4 A T 6: 32,494,379 (GRCm39) V79D probably damaging Het
Prdm16 A T 4: 154,419,718 (GRCm39) M897K probably damaging Het
Ptprg T A 14: 12,091,410 (GRCm38) probably null Het
Rcan2 G T 17: 44,347,924 (GRCm39) C211F probably damaging Het
Rigi A G 4: 40,224,013 (GRCm39) S289P probably benign Het
Rxfp1 C T 3: 79,645,076 (GRCm39) C9Y probably benign Het
Scn2a G A 2: 65,501,111 (GRCm39) probably null Het
Scnn1a A C 6: 125,309,157 (GRCm39) R264S probably damaging Het
Sema4g T C 19: 44,986,459 (GRCm39) V345A probably benign Het
Sgo2b T A 8: 64,380,426 (GRCm39) D802V probably benign Het
Slc25a21 G A 12: 56,904,872 (GRCm39) T54I probably benign Het
Slc25a46 C T 18: 31,727,641 (GRCm39) E223K probably damaging Het
Slc25a54 A G 3: 109,010,013 (GRCm39) I171V probably benign Het
Slc7a6 T C 8: 106,919,088 (GRCm39) V224A possibly damaging Het
Smchd1 A T 17: 71,694,001 (GRCm39) V1248E probably damaging Het
Sort1 C A 3: 108,233,015 (GRCm39) F196L probably damaging Het
Sptbn4 G A 7: 27,118,008 (GRCm39) T357M probably damaging Het
Srrm3 T A 5: 135,885,983 (GRCm39) W308R probably damaging Het
Stard9 A T 2: 120,531,970 (GRCm39) E2742D probably benign Het
Tas1r1 T A 4: 152,116,705 (GRCm39) I310F probably damaging Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tff1 A T 17: 31,380,560 (GRCm39) C85* probably null Het
Tlr11 C T 14: 50,598,104 (GRCm39) T30I probably benign Het
Trio T C 15: 27,748,426 (GRCm39) T1265A probably benign Het
Ttc7b T C 12: 100,373,261 (GRCm39) M338V possibly damaging Het
Umod T A 7: 119,063,947 (GRCm39) S620C probably damaging Het
Ust C A 10: 8,173,819 (GRCm39) probably null Het
Vmn1r176 A T 7: 23,534,609 (GRCm39) S181R probably damaging Het
Vmn1r202 T C 13: 22,686,313 (GRCm39) T35A probably benign Het
Vmn1r39 C A 6: 66,781,895 (GRCm39) R104L probably benign Het
Vps13b T A 15: 35,430,351 (GRCm39) Y286* probably null Het
Zfp579 G A 7: 4,996,769 (GRCm39) R381C probably damaging Het
Zfp85 A G 13: 67,899,747 (GRCm39) S71P probably benign Het
Zfyve16 A T 13: 92,640,593 (GRCm39) V1254E 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
IGL02416:Emilin1 APN 5 31,075,132 (GRCm39) missense possibly damaging 0.92
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
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
Predicted Primers PCR Primer
(F):5'- GGCTAGATGTAGTGACTGGC -3'
(R):5'- TCCAAGGCACTGAGGATCTC -3'

Sequencing Primer
(F):5'- CTGGCTCACTGACAGTGCTAAG -3'
(R):5'- TGAGGATCTCATTGACCCGAGAATC -3'
Posted On 2014-06-23