Incidental Mutation 'R5227:Emilin3'
ID 402659
Institutional Source Beutler Lab
Gene Symbol Emilin3
Ensembl Gene ENSMUSG00000050700
Gene Name elastin microfibril interfacer 3
Synonyms 1110013O17Rik, EMILIN-T, Emilin5
MMRRC Submission 042800-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5227 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 160748357-160754248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 160751185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 188 (Q188L)
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: Q188L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: Q188L

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 benign
Transcript: ENSMUST00000109454
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700

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
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 98.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 84,999,249 (GRCm39) L115P probably damaging Het
Adgrb3 A C 1: 25,133,033 (GRCm39) M481R possibly damaging Het
Adgrd1 C A 5: 129,199,647 (GRCm39) N161K probably benign Het
Alx4 T A 2: 93,507,725 (GRCm39) V340D probably damaging Het
Arid1a A G 4: 133,407,716 (GRCm39) S2264P unknown Het
Azi2 A T 9: 117,876,526 (GRCm39) H14L probably damaging Het
Camsap2 A G 1: 136,202,629 (GRCm39) probably benign Het
Ccpg1 T A 9: 72,919,354 (GRCm39) L323* probably null Het
Cpsf1 A T 15: 76,483,148 (GRCm39) I943N probably damaging Het
Crebrf T A 17: 26,978,739 (GRCm39) Y476N probably damaging Het
Defb10 T A 8: 22,351,894 (GRCm39) Y46* probably null Het
Dock3 A G 9: 106,863,269 (GRCm39) L703P probably damaging Het
Ebf2 A T 14: 67,484,518 (GRCm39) I181F probably damaging Het
Eif3e T A 15: 43,114,917 (GRCm39) M420L probably benign Het
Fbxl4 C T 4: 22,376,840 (GRCm39) T92M probably damaging Het
Fer1l6 C T 15: 58,453,752 (GRCm39) Q687* probably null Het
Fkrp T C 7: 16,544,635 (GRCm39) E409G possibly damaging Het
Fzd9 T C 5: 135,278,460 (GRCm39) D475G probably benign Het
Gabbr1 C T 17: 37,380,958 (GRCm39) T767I possibly damaging Het
Gdf2 G A 14: 33,663,451 (GRCm39) probably null Het
Gpatch1 T C 7: 35,008,776 (GRCm39) N82D probably benign Het
Heg1 T A 16: 33,583,961 (GRCm39) L1256Q probably damaging Het
Ireb2 T A 9: 54,803,885 (GRCm39) probably null Het
Kansl1 T G 11: 104,247,640 (GRCm39) H570P probably benign Het
Kcna10 T G 3: 107,101,744 (GRCm39) M125R probably damaging Het
Lrp1b T G 2: 40,741,805 (GRCm39) I3041L possibly damaging Het
Mbtd1 T C 11: 93,815,474 (GRCm39) F354S possibly damaging Het
Mideas A T 12: 84,199,661 (GRCm39) F1020I probably benign Het
Mov10 T C 3: 104,709,894 (GRCm39) T331A probably benign Het
Ms4a8a A T 19: 11,045,780 (GRCm39) S243T probably damaging Het
Ndufa11 T C 17: 57,024,867 (GRCm39) S10P probably benign Het
Olfml3 A G 3: 103,643,737 (GRCm39) Y215H possibly damaging Het
Or2t45 T A 11: 58,669,705 (GRCm39) F251I possibly damaging Het
Or56b2j A G 7: 104,353,529 (GRCm39) I252V possibly damaging Het
Pclo T C 5: 14,763,574 (GRCm39) S4016P probably benign Het
Pcyox1 G C 6: 86,368,726 (GRCm39) A264G probably damaging Het
Pdzrn3 C T 6: 101,130,272 (GRCm39) D515N probably damaging Het
Pnisr A G 4: 21,874,587 (GRCm39) probably benign Het
Prc1 T C 7: 79,962,927 (GRCm39) S574P probably damaging Het
Ranbp3l T A 15: 9,037,186 (GRCm39) V16D probably damaging Het
Rfx1 T C 8: 84,800,687 (GRCm39) V96A probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sfmbt1 T C 14: 30,537,211 (GRCm39) probably null Het
Siglecf T C 7: 43,001,364 (GRCm39) Y111H probably damaging Het
Snx14 G A 9: 88,280,347 (GRCm39) T536I possibly damaging Het
Spindoc A G 19: 7,351,512 (GRCm39) V204A probably benign Het
Sptbn5 A G 2: 119,915,812 (GRCm39) probably benign Het
Swt1 G A 1: 151,278,727 (GRCm39) Q227* probably null Het
Tg A G 15: 66,631,416 (GRCm39) I562V possibly damaging Het
Trip11 T A 12: 101,851,179 (GRCm39) I677F probably damaging Het
Vmn1r49 G A 6: 90,049,753 (GRCm39) T83I probably benign Het
Vmn1r90 T C 7: 14,295,601 (GRCm39) K166E possibly damaging Het
Vmn2r124 T C 17: 18,269,819 (GRCm39) I25T possibly damaging Het
Vps13d A T 4: 144,907,777 (GRCm39) probably null Het
Zfp106 T C 2: 120,354,449 (GRCm39) I170V probably benign 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
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'- CTGCACCTTGGTCTGTAATGTG -3'
(R):5'- TGAGCCATGACTGTAAAACCC -3'

Sequencing Primer
(F):5'- GTAATGTGTTGCTCACCTCTGTGAC -3'
(R):5'- GATAACATGTTGGAGGGC -3'
Posted On 2016-07-22