Incidental Mutation 'R7773:Emilin3'
ID 598690
Institutional Source Beutler Lab
Gene Symbol Emilin3
Ensembl Gene ENSMUSG00000050700
Gene Name elastin microfibril interfacer 3
Synonyms 1110013O17Rik, EMILIN-T, Emilin5
MMRRC Submission 045829-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7773 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 160748357-160754248 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 160752718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 77 (Y77*)
Ref Sequence ENSEMBL: ENSMUSP00000059732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040872] [ENSMUST00000057169] [ENSMUST00000109454] [ENSMUST00000109455] [ENSMUST00000109456]
AlphaFold P59900
Predicted Effect probably benign
Transcript: ENSMUST00000040872
SMART Domains Protein: ENSMUSP00000043053
Gene: ENSMUSG00000027412

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 5.8e-52 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
LNS2 637 793 1.4e-105 SMART
Predicted Effect probably null
Transcript: ENSMUST00000057169
AA Change: Y77*
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: Y77*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EMI 55 125 7.3e-18 PFAM
low complexity region 144 161 N/A INTRINSIC
low complexity region 281 295 N/A INTRINSIC
low complexity region 359 381 N/A INTRINSIC
low complexity region 451 460 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109454
AA Change: Y77*
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: Y77*

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:EMI 54 127 6.4e-22 PFAM
low complexity region 144 161 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
low complexity region 312 334 N/A INTRINSIC
low complexity region 404 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109455
SMART Domains Protein: ENSMUSP00000105081
Gene: ENSMUSG00000027412

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 2.4e-52 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 528 538 N/A INTRINSIC
LNS2 606 762 1.4e-105 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109456
SMART Domains Protein: ENSMUSP00000105082
Gene: ENSMUSG00000027412

DomainStartEndE-ValueType
Pfam:Lipin_N 1 114 5.8e-52 PFAM
low complexity region 136 148 N/A INTRINSIC
low complexity region 155 172 N/A INTRINSIC
low complexity region 176 191 N/A INTRINSIC
low complexity region 220 233 N/A INTRINSIC
low complexity region 271 282 N/A INTRINSIC
low complexity region 559 569 N/A INTRINSIC
LNS2 637 793 1.4e-105 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (55/56)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,206,180 (GRCm39) I336T probably benign Het
4930519P11Rik T C 2: 154,455,107 (GRCm39) Y84C unknown Het
4930568D16Rik C T 2: 35,244,606 (GRCm39) G249S probably damaging Het
AAdacl4fm3 A T 4: 144,430,047 (GRCm39) L314Q probably damaging Het
Adprhl1 C T 8: 13,298,682 (GRCm39) V83I probably damaging Het
Agbl1 T A 7: 76,348,585 (GRCm39) V894E unknown Het
Amigo3 T C 9: 107,931,867 (GRCm39) L430P probably benign Het
Aoc1 A G 6: 48,883,146 (GRCm39) I341V probably benign Het
Bod1l A G 5: 41,990,055 (GRCm39) S223P probably benign Het
Cacnb3 T C 15: 98,537,819 (GRCm39) probably null Het
Ccdc63 G T 5: 122,247,335 (GRCm39) N503K probably damaging Het
Ccdc83 T A 7: 89,879,120 (GRCm39) I225F probably damaging Het
Cd200r1 A G 16: 44,610,050 (GRCm39) T90A possibly damaging Het
Cd8a A G 6: 71,350,799 (GRCm39) N88S probably benign Het
Cep170 A G 1: 176,567,642 (GRCm39) V152A Het
Chid1 T C 7: 141,109,518 (GRCm39) M123V probably benign Het
Cnnm4 T C 1: 36,538,603 (GRCm39) V595A probably benign Het
Coro7 A G 16: 4,449,870 (GRCm39) L630P probably damaging Het
Cpvl A G 6: 53,908,890 (GRCm39) probably null Het
Edem3 A T 1: 151,687,347 (GRCm39) K762* probably null Het
Elp6 T A 9: 110,141,627 (GRCm39) probably null Het
Fam234b T A 6: 135,220,912 (GRCm39) I641N probably benign Het
Farsa T C 8: 85,590,781 (GRCm39) probably null Het
Foxf2 T C 13: 31,811,182 (GRCm39) S374P probably benign Het
Gm11596 A T 11: 99,683,667 (GRCm39) I151N unknown Het
Gm9817 C T 13: 45,232,427 (GRCm39) Q77* probably null Het
Gon4l A G 3: 88,803,102 (GRCm39) K1238E probably benign Het
H13 A G 2: 152,537,431 (GRCm39) Y292C probably damaging Het
Hip1r A G 5: 124,139,504 (GRCm39) N928S probably benign Het
Iqcf4 T C 9: 106,445,812 (GRCm39) N112D probably benign Het
Jak3 A C 8: 72,131,686 (GRCm39) T125P probably benign Het
Krt7 A C 15: 101,311,913 (GRCm39) K124Q possibly damaging Het
Ldc1 T C 4: 130,114,169 (GRCm39) N83D probably damaging Het
Lrrc66 G A 5: 73,764,664 (GRCm39) S793F probably damaging Het
Mycbp2 C T 14: 103,485,840 (GRCm39) V1074I probably damaging Het
Nckap5 T C 1: 125,954,581 (GRCm39) D657G probably benign Het
Nt5el A G 13: 105,218,793 (GRCm39) I42M probably damaging Het
Or5b113 T A 19: 13,342,598 (GRCm39) V202E probably benign Het
Or8k21 T C 2: 86,145,034 (GRCm39) I199V probably benign Het
Osbpl7 A G 11: 96,941,548 (GRCm39) S24G probably benign Het
Pcm1 G T 8: 41,762,610 (GRCm39) E1385* probably null Het
Poc5 A G 13: 96,547,143 (GRCm39) T469A probably damaging Het
Ppp3ca A G 3: 136,596,222 (GRCm39) T296A probably benign Het
Prl6a1 T C 13: 27,502,125 (GRCm39) I164T probably damaging Het
Psmd6 GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC 14: 14,119,882 (GRCm38) probably null Het
Rnf149 A C 1: 39,604,299 (GRCm39) M188R possibly damaging Het
Rpl10l T C 12: 66,331,041 (GRCm39) I31V probably benign Het
Serinc5 T C 13: 92,797,592 (GRCm39) S32P probably damaging Het
Sirt1 T A 10: 63,162,562 (GRCm39) K137M possibly damaging Het
Smc4 A G 3: 68,923,496 (GRCm39) Y251C probably damaging Het
Sod3 A C 5: 52,525,643 (GRCm39) E114A possibly damaging Het
Tgfbr3 A G 5: 107,288,368 (GRCm39) V431A probably benign Het
Tlr4 T C 4: 66,757,836 (GRCm39) S210P probably damaging Het
Trub2 G T 2: 29,676,520 (GRCm39) T70N probably benign Het
Tsga10 A T 1: 37,874,323 (GRCm39) C159S unknown Het
Vmn1r15 A T 6: 57,235,644 (GRCm39) I171F probably benign Het
Vmn2r50 T A 7: 9,771,562 (GRCm39) H713L possibly damaging Het
Zcchc14 T C 8: 122,378,514 (GRCm39) S43G unknown Het
Zfp638 T C 6: 83,956,196 (GRCm39) I1601T probably damaging Het
Other mutations in Emilin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Emilin3 APN 2 160,751,703 (GRCm39) missense probably damaging 1.00
IGL02231:Emilin3 APN 2 160,750,435 (GRCm39) missense probably damaging 1.00
IGL02812:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL02813:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL02892:Emilin3 APN 2 160,751,069 (GRCm39) missense possibly damaging 0.72
IGL03012:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL03017:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL03083:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL03094:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL03163:Emilin3 APN 2 160,750,649 (GRCm39) nonsense probably null
IGL03206:Emilin3 APN 2 160,752,719 (GRCm39) missense probably damaging 1.00
IGL02835:Emilin3 UTSW 2 160,750,649 (GRCm39) nonsense probably null
IGL03046:Emilin3 UTSW 2 160,750,649 (GRCm39) nonsense probably null
PIT1430001:Emilin3 UTSW 2 160,750,402 (GRCm39) missense possibly damaging 0.48
R0373:Emilin3 UTSW 2 160,751,737 (GRCm39) missense probably benign 0.00
R0392:Emilin3 UTSW 2 160,752,799 (GRCm39) unclassified probably benign
R0420:Emilin3 UTSW 2 160,752,799 (GRCm39) unclassified probably benign
R0627:Emilin3 UTSW 2 160,750,096 (GRCm39) missense probably damaging 1.00
R0628:Emilin3 UTSW 2 160,752,799 (GRCm39) unclassified probably benign
R0671:Emilin3 UTSW 2 160,750,249 (GRCm39) missense probably damaging 1.00
R1655:Emilin3 UTSW 2 160,752,786 (GRCm39) critical splice acceptor site probably null
R2016:Emilin3 UTSW 2 160,751,530 (GRCm39) missense possibly damaging 0.85
R2017:Emilin3 UTSW 2 160,751,530 (GRCm39) missense possibly damaging 0.85
R3624:Emilin3 UTSW 2 160,750,177 (GRCm39) missense possibly damaging 0.59
R4062:Emilin3 UTSW 2 160,749,716 (GRCm39) missense probably benign
R4307:Emilin3 UTSW 2 160,750,237 (GRCm39) missense probably damaging 1.00
R4365:Emilin3 UTSW 2 160,750,406 (GRCm39) missense probably benign
R4669:Emilin3 UTSW 2 160,752,717 (GRCm39) missense probably benign 0.00
R5076:Emilin3 UTSW 2 160,751,238 (GRCm39) critical splice acceptor site probably null
R5227:Emilin3 UTSW 2 160,751,185 (GRCm39) missense probably damaging 1.00
R5725:Emilin3 UTSW 2 160,750,410 (GRCm39) nonsense probably null
R5914:Emilin3 UTSW 2 160,750,990 (GRCm39) missense probably damaging 1.00
R6030:Emilin3 UTSW 2 160,751,105 (GRCm39) missense probably benign
R6030:Emilin3 UTSW 2 160,751,105 (GRCm39) missense probably benign
R6919:Emilin3 UTSW 2 160,750,018 (GRCm39) missense probably damaging 1.00
R7353:Emilin3 UTSW 2 160,750,741 (GRCm39) missense probably damaging 0.99
R7618:Emilin3 UTSW 2 160,751,199 (GRCm39) missense probably benign 0.04
R7785:Emilin3 UTSW 2 160,752,694 (GRCm39) nonsense probably null
R8082:Emilin3 UTSW 2 160,750,066 (GRCm39) missense probably damaging 0.99
R8187:Emilin3 UTSW 2 160,750,000 (GRCm39) missense possibly damaging 0.49
R8887:Emilin3 UTSW 2 160,751,108 (GRCm39) missense possibly damaging 0.52
R9241:Emilin3 UTSW 2 160,750,177 (GRCm39) missense possibly damaging 0.59
RF009:Emilin3 UTSW 2 160,751,012 (GRCm39) missense probably benign 0.00
Z1177:Emilin3 UTSW 2 160,749,721 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCTCTCTAGCAAGCACTGTG -3'
(R):5'- ACAGACCCCGTTCAGAAGATATG -3'

Sequencing Primer
(F):5'- GGCCCAGATAGGTTCTCTGAAG -3'
(R):5'- CAGAGGTCCAAGGTTCCATG -3'
Posted On 2019-11-26