Incidental Mutation 'R9224:Emilin1'
ID 699660
Institutional Source Beutler Lab
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 # R9224 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 31070746-31078621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31074823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 355 (C355S)
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 probably damaging
Transcript: ENSMUST00000031055
AA Change: C355S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031055
Gene: ENSMUSG00000029163
AA Change: C355S

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 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 probably benign
Transcript: ENSMUST00000202752
SMART Domains Protein: ENSMUSP00000143850
Gene: ENSMUSG00000029162

DomainStartEndE-ValueType
Pfam:PfkB 3 243 5.8e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik C T 19: 3,767,100 (GRCm39) S229L possibly damaging Het
Actc1 TGA T 2: 113,879,710 (GRCm39) probably null Het
Actl9 G A 17: 33,653,004 (GRCm39) A355T probably benign Het
Adamts8 A G 9: 30,854,188 (GRCm39) Q19R probably benign Het
Akr1c14 A T 13: 4,130,695 (GRCm39) Y216F possibly damaging Het
Alms1 T C 6: 85,598,770 (GRCm39) C1199R possibly damaging Het
Apc2 T C 10: 80,150,111 (GRCm39) S1722P probably damaging Het
Arid1a T C 4: 133,409,167 (GRCm39) E1395G unknown Het
Atp6v0e2 T C 6: 48,516,190 (GRCm39) V46A possibly damaging Het
Bcar3 A G 3: 122,319,091 (GRCm39) R743G probably damaging Het
Bhmt2 A G 13: 93,805,854 (GRCm39) V56A probably damaging Het
Bsn C A 9: 107,982,686 (GRCm39) R917L Het
Cabyr T G 18: 12,887,278 (GRCm39) V303G possibly damaging Het
Carmil1 A T 13: 24,292,512 (GRCm39) I429N probably damaging Het
Ccdc27 T C 4: 154,122,174 (GRCm39) N235D unknown Het
Ccdc61 T C 7: 18,637,746 (GRCm39) M37V probably benign Het
Cd40 A T 2: 164,898,716 (GRCm39) I48F unknown Het
Cdk13 A T 13: 17,941,071 (GRCm39) S664R probably damaging Het
Cel TTA TTATA 2: 28,449,441 (GRCm39) probably null Het
Cfap46 T A 7: 139,258,416 (GRCm39) R286* probably null Het
Ckap2 A C 8: 22,659,954 (GRCm39) I509S possibly damaging Het
Clptm1l A T 13: 73,752,344 (GRCm39) probably benign Het
Col11a1 T G 3: 114,001,929 (GRCm39) M1591R unknown Het
Col6a5 C A 9: 105,814,594 (GRCm39) A473S unknown Het
Cxcr2 T A 1: 74,197,756 (GRCm39) D83E probably damaging Het
Cyp2c39 G A 19: 39,527,332 (GRCm39) C226Y probably benign Het
Ddr1 A C 17: 36,000,609 (GRCm39) F352C probably damaging Het
Defb22 T A 2: 152,327,721 (GRCm39) T155S unknown Het
Dennd4c G T 4: 86,738,170 (GRCm39) E935* probably null Het
Dst A C 1: 34,330,879 (GRCm39) E4889D probably damaging Het
Efcab3 A G 11: 104,661,801 (GRCm39) Q1314R probably benign Het
Enpp3 C T 10: 24,650,716 (GRCm39) V807I probably benign Het
Fcnb T A 2: 27,969,160 (GRCm39) D179V probably damaging Het
Ficd T A 5: 113,875,196 (GRCm39) D88E probably benign Het
Fndc3b T C 3: 27,524,450 (GRCm39) K437E possibly damaging Het
Fyb2 T A 4: 104,853,105 (GRCm39) W566R probably benign Het
Gm14403 A G 2: 177,200,336 (GRCm39) Q94R probably benign Het
Gm32687 T A 10: 81,714,866 (GRCm39) I86N probably benign Het
Gpam T G 19: 55,075,907 (GRCm39) D235A probably damaging Het
Gstt4 T C 10: 75,651,046 (GRCm39) E192G probably damaging Het
H2-Q6 T G 17: 35,644,309 (GRCm39) V97G probably benign Het
Hcn1 G A 13: 118,062,254 (GRCm39) G507S unknown Het
Hydin T C 8: 111,259,516 (GRCm39) I2496T probably benign Het
Jund A G 8: 71,151,864 (GRCm39) D53G probably damaging Het
Kat6b T A 14: 21,720,031 (GRCm39) M1461K probably benign Het
Lnx1 T G 5: 74,766,810 (GRCm39) K435Q probably benign Het
Lpcat1 C A 13: 73,658,161 (GRCm39) L316M probably damaging Het
Lrrtm3 ATTTT ATTTTT 10: 63,925,035 (GRCm39) probably null Het
Ly6c1 T A 15: 74,916,465 (GRCm39) T126S probably benign Het
Macf1 A G 4: 123,326,690 (GRCm39) S4938P probably damaging Het
Map2k2 T C 10: 80,954,008 (GRCm39) V158A possibly damaging Het
Map3k4 A G 17: 12,456,973 (GRCm39) V1323A probably damaging Het
Map4k5 A T 12: 69,939,467 (GRCm39) V23E possibly damaging Het
Med30 T G 15: 52,582,839 (GRCm39) L92R probably damaging Het
Mroh8 C T 2: 157,063,069 (GRCm39) G851S possibly damaging Het
Msmb T A 14: 31,880,060 (GRCm39) C83* probably null Het
Mtif2 A T 11: 29,494,364 (GRCm39) R655S probably benign Het
Myo10 C T 15: 25,808,081 (GRCm39) S1901L probably benign Het
Myom2 A T 8: 15,178,804 (GRCm39) I1279F possibly damaging Het
Nat9 T C 11: 115,075,441 (GRCm39) I67V probably damaging Het
Ncam1 A G 9: 49,419,995 (GRCm39) S774P probably damaging Het
Ndufaf6 T C 4: 11,062,089 (GRCm39) T181A probably damaging Het
Nlrp4f T A 13: 65,332,829 (GRCm39) K110* probably null Het
Nlrp9b T C 7: 19,753,217 (GRCm39) S41P probably benign Het
Nlrp9b A G 7: 19,757,476 (GRCm39) T238A probably benign Het
Noxo1 A T 17: 24,919,305 (GRCm39) E342D probably benign Het
Nt5dc2 T C 14: 30,857,665 (GRCm39) M55T probably benign Het
Or1j14 A T 2: 36,417,838 (GRCm39) Q138L probably benign Het
Or2ag18 T C 7: 106,405,489 (GRCm39) Y60C probably damaging Het
Or2f1 T C 6: 42,721,904 (GRCm39) F311S probably benign Het
Or2h2c T C 17: 37,422,767 (GRCm39) T36A possibly damaging Het
Or5al6 T A 2: 85,976,220 (GRCm39) N286I probably damaging Het
Or6c210 C A 10: 129,496,007 (GRCm39) L111M probably damaging Het
Or6c6 T A 10: 129,186,450 (GRCm39) M6K probably benign Het
Or9s18 C T 13: 65,300,203 (GRCm39) T55I probably damaging Het
P4ha2 C T 11: 54,009,963 (GRCm39) P240L possibly damaging Het
Pcdha11 T A 18: 37,139,073 (GRCm39) L234Q probably damaging Het
Pgm3 C T 9: 86,438,415 (GRCm39) A457T probably benign Het
Pira12 T C 7: 3,900,234 (GRCm39) T123A probably benign Het
Pkp4 T C 2: 59,144,738 (GRCm39) V533A probably benign Het
Plac8l1 T C 18: 42,325,702 (GRCm39) T68A possibly damaging Het
Pou2f3 A T 9: 43,050,694 (GRCm39) I222N probably damaging Het
Ppp1r14d T C 2: 119,060,222 (GRCm39) D20G probably benign Het
Ppp1r37 C A 7: 19,265,729 (GRCm39) G679V probably damaging Het
Ppp6r2 T A 15: 89,146,599 (GRCm39) I199N probably damaging Het
Prune2 A G 19: 17,097,393 (GRCm39) T966A probably damaging Het
Ptdss2 T C 7: 140,734,798 (GRCm39) V375A probably benign Het
Rara TGCCCCGC TGCCCCGCCCCGC 11: 98,857,236 (GRCm39) probably null Het
Rin2 T A 2: 145,720,822 (GRCm39) C718* probably null Het
Rptor C T 11: 119,785,113 (GRCm39) T1170I probably benign Het
Samd5 T C 10: 9,550,259 (GRCm39) Y150C probably damaging Het
Setd1b T C 5: 123,296,773 (GRCm39) S1245P unknown Het
Sipa1l2 T C 8: 126,218,716 (GRCm39) E207G probably damaging Het
Slc29a1 C A 17: 45,897,153 (GRCm39) V378L probably damaging Het
Slc2a12 T G 10: 22,541,261 (GRCm39) I372S possibly damaging Het
Slc7a10 T A 7: 34,894,639 (GRCm39) Y99* probably null Het
Smco3 A G 6: 136,808,517 (GRCm39) V119A probably damaging Het
Sptlc3 C T 2: 139,336,154 (GRCm39) T10I probably benign Het
Sri T A 5: 8,113,323 (GRCm39) W105R probably damaging Het
Stk35 T C 2: 129,652,491 (GRCm39) Y331H probably damaging Het
Tipin T C 9: 64,195,430 (GRCm39) I12T probably benign Het
Tlr5 A G 1: 182,802,693 (GRCm39) T666A probably benign Het
Tmprss11g C A 5: 86,640,003 (GRCm39) V222L probably benign Het
Tnfrsf11b T A 15: 54,115,556 (GRCm39) Y347F possibly damaging Het
Traf6 A G 2: 101,527,512 (GRCm39) T421A probably benign Het
Trrap T A 5: 144,708,049 (GRCm39) D30E possibly damaging Het
Ube2k T A 5: 65,751,847 (GRCm39) Y162N probably damaging Het
Uck2 A T 1: 167,065,171 (GRCm39) V49E probably damaging Het
Vcam1 A T 3: 115,904,592 (GRCm39) Y718* probably null Het
Zan T C 5: 137,472,269 (GRCm39) N159S probably damaging Het
Zfp438 A G 18: 5,210,788 (GRCm39) L750P probably damaging Het
Zfp54 A T 17: 21,654,037 (GRCm39) Y177F probably benign 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
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
R9526:Emilin1 UTSW 5 31,075,484 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCTGGCCCCAGTGAAGAAC -3'
(R):5'- CTAGGGTAGAGTTGAAGCGGTC -3'

Sequencing Primer
(F):5'- CTGTTAAGGCAGCTGGAACG -3'
(R):5'- TAGAGTTGAAGCGGTCCTCCAG -3'
Posted On 2022-02-07