Incidental Mutation 'R4307:Emilin3'
ID 324052
Institutional Source Beutler Lab
Gene Symbol Emilin3
Ensembl Gene ENSMUSG00000050700
Gene Name elastin microfibril interfacer 3
Synonyms 1110013O17Rik, EMILIN-T, Emilin5
MMRRC Submission 041658-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4307 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 160748357-160754248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 160750237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 504 (E504G)
Ref Sequence ENSEMBL: ENSMUSP00000059732 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040872] [ENSMUST00000057169] [ENSMUST00000109454] [ENSMUST00000109455] [ENSMUST00000109456] [ENSMUST00000109457]
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 damaging
Transcript: ENSMUST00000057169
AA Change: E504G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: E504G

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 damaging
Transcript: ENSMUST00000109454
AA Change: E457G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: E457G

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
Predicted Effect probably benign
Transcript: ENSMUST00000109457
SMART Domains Protein: ENSMUSP00000105083
Gene: ENSMUSG00000027412

DomainStartEndE-ValueType
Pfam:Lipin_N 1 110 4.1e-48 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
Pfam:Lipin_mid 435 538 9.5e-35 PFAM
low complexity region 569 579 N/A INTRINSIC
LNS2 647 803 1.4e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124920
Meta Mutation Damage Score 0.1384 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500009L16Rik A C 10: 83,573,792 (GRCm39) K22N probably damaging Het
A830018L16Rik C A 1: 12,042,300 (GRCm39) S440* probably null Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ccr5 T C 9: 123,925,111 (GRCm39) L238P possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Efemp2 T A 19: 5,531,649 (GRCm39) Y430N possibly damaging Het
Egf T A 3: 129,512,744 (GRCm39) Y473F probably damaging Het
Fcsk G A 8: 111,618,712 (GRCm39) Q349* probably null Het
Frmd4a C T 2: 4,337,889 (GRCm39) R32C probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Gpbp1 T C 13: 111,585,517 (GRCm39) *68W probably null Het
Gpm6a T C 8: 55,500,428 (GRCm39) probably null Het
Inpp5a T C 7: 139,154,879 (GRCm39) S333P possibly damaging Het
Itgb5 T G 16: 33,769,102 (GRCm39) Y481D possibly damaging Het
Kif27 C T 13: 58,491,937 (GRCm39) V401I probably benign Het
Lca5l C T 16: 95,960,756 (GRCm39) probably benign Het
Mrtfa G A 15: 80,900,548 (GRCm39) L648F possibly damaging Het
Plxna4 A G 6: 32,140,444 (GRCm39) V1648A probably damaging Het
Polk C T 13: 96,633,174 (GRCm39) E290K possibly damaging Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Scn7a A T 2: 66,506,099 (GRCm39) S1597T possibly damaging Het
Slc5a11 T A 7: 122,869,093 (GRCm39) H560Q probably benign Het
Top3b T C 16: 16,707,481 (GRCm39) probably benign Het
Unc13c T C 9: 73,600,649 (GRCm39) N1365S probably benign Het
Vmn2r101 T A 17: 19,810,423 (GRCm39) V403E probably damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r28 A T 7: 5,493,707 (GRCm39) F80I 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
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
R7773:Emilin3 UTSW 2 160,752,718 (GRCm39) nonsense probably null
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'- ACTTCAGCTACCGTGCCATTG -3'
(R):5'- TGCTTGAAGGCCTTGAGACTATC -3'

Sequencing Primer
(F):5'- TACCGTGCCATTGAGCTG -3'
(R):5'- CTTGAAGGCCTTGAGACTATCAATGG -3'
Posted On 2015-06-24