Incidental Mutation 'R6919:Emilin3'
ID 539479
Institutional Source Beutler Lab
Gene Symbol Emilin3
Ensembl Gene ENSMUSG00000050700
Gene Name elastin microfibril interfacer 3
Synonyms 1110013O17Rik, EMILIN-T, Emilin5
MMRRC Submission 045039-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6919 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 160748357-160754248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 160750018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 577 (I577N)
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: I577N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: I577N

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: I530N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: I530N

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
Meta Mutation Damage Score 0.4695 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 99% (84/85)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700086D15Rik A G 11: 65,043,356 (GRCm39) probably benign Het
6430548M08Rik T C 8: 120,872,221 (GRCm39) S50P probably damaging Het
Aacs A G 5: 125,583,227 (GRCm39) D261G probably benign Het
Abcc4 T A 14: 118,832,306 (GRCm39) T775S probably benign Het
Acsl6 A G 11: 54,232,582 (GRCm39) probably null Het
Agbl5 T A 5: 31,062,061 (GRCm39) F196I probably benign Het
Ahnak2 T C 12: 112,741,118 (GRCm39) T985A possibly damaging Het
Ak1 A T 2: 32,521,134 (GRCm39) D101V possibly damaging Het
Alx1 A G 10: 102,861,061 (GRCm39) Y156H probably damaging Het
Angptl7 T A 4: 148,584,488 (GRCm39) S87C probably benign Het
Ankrd36 A G 11: 5,579,299 (GRCm39) T188A probably benign Het
Arhgap11a A C 2: 113,670,054 (GRCm39) S356R possibly damaging Het
Ascc3 G T 10: 50,521,849 (GRCm39) E455* probably null Het
Atp6v0a2 G A 5: 124,789,225 (GRCm39) probably null Het
B3gnt7 T C 1: 86,233,416 (GRCm39) W104R probably damaging Het
Bbs9 G A 9: 22,723,840 (GRCm39) probably null Het
Cc2d2a T A 5: 43,860,557 (GRCm39) D544E probably benign Het
Cic C T 7: 24,971,202 (GRCm39) T311I probably benign Het
Cngb1 T A 8: 95,975,003 (GRCm39) R1157W probably null Het
Cntln A G 4: 85,033,605 (GRCm39) H1310R probably benign Het
Cntnap5c A T 17: 58,600,948 (GRCm39) I764F probably benign Het
Col26a1 T C 5: 136,773,088 (GRCm39) Q362R possibly damaging Het
Cyp2c29 G A 19: 39,279,585 (GRCm39) R100K probably benign Het
D17H6S53E C G 17: 35,346,222 (GRCm39) D44E probably damaging Het
Dap3 A G 3: 88,838,296 (GRCm39) V65A probably damaging Het
Dna2 A T 10: 62,792,782 (GRCm39) I266F probably damaging Het
Dnah14 G A 1: 181,412,631 (GRCm39) G57E probably benign Het
Dock9 A T 14: 121,880,564 (GRCm39) V333E probably benign Het
Dpm1 A G 2: 168,072,195 (GRCm39) Y27H probably damaging Het
Dsp A T 13: 38,351,631 (GRCm39) Y150F possibly damaging Het
Erap1 A G 13: 74,819,552 (GRCm39) T189A probably benign Het
Fat2 A G 11: 55,173,597 (GRCm39) I2372T possibly damaging Het
Fbn2 A T 18: 58,257,259 (GRCm39) probably null Het
Gnl1 A T 17: 36,298,425 (GRCm39) R390* probably null Het
Hivep1 A G 13: 42,336,928 (GRCm39) I2336V probably benign Het
Il17rb C G 14: 29,726,228 (GRCm39) probably null Het
Itga9 T C 9: 118,716,883 (GRCm39) W396R probably damaging Het
Katnal2 A G 18: 77,098,734 (GRCm39) V152A probably benign Het
Kcnk3 A G 5: 30,779,744 (GRCm39) T265A probably benign Het
Klhl1 T C 14: 96,374,030 (GRCm39) Y672C probably benign Het
Leng8 C A 7: 4,146,625 (GRCm39) N412K possibly damaging Het
Lrrc9 T A 12: 72,553,167 (GRCm39) F1356L probably benign Het
Map7 A G 10: 20,046,828 (GRCm39) probably benign Het
Mei1 T C 15: 81,966,131 (GRCm39) F251S probably damaging Het
Mia2 A G 12: 59,176,681 (GRCm39) E9G possibly damaging Het
Ms4a13 C A 19: 11,149,249 (GRCm39) W182C probably benign Het
Muc16 C T 9: 18,571,595 (GRCm39) R308K unknown Het
Or4c103 G A 2: 88,514,028 (GRCm39) T16I possibly damaging Het
Or8g22 A G 9: 38,958,827 (GRCm39) probably benign Het
Pcnt A G 10: 76,221,632 (GRCm39) V1998A probably benign Het
Pgm2 A T 5: 64,254,368 (GRCm39) N51I probably benign Het
Piezo1 T A 8: 123,217,020 (GRCm39) H1333L probably damaging Het
Prg2 G A 2: 84,813,600 (GRCm39) V199M probably damaging Het
Prss51 T C 14: 64,334,937 (GRCm39) V182A probably damaging Het
Psmb9 A T 17: 34,402,199 (GRCm39) Y132* probably null Het
Ralyl T C 3: 13,842,091 (GRCm39) Y76H probably damaging Het
Rnaset2a A T 17: 8,349,114 (GRCm39) D174E probably benign Het
Rnft1 G A 11: 86,386,156 (GRCm39) probably null Het
Robo2 T C 16: 73,758,755 (GRCm39) Y676C probably damaging Het
Samd9l T G 6: 3,376,313 (GRCm39) Y316S possibly damaging Het
Siah3 T A 14: 75,693,578 (GRCm39) F28Y possibly damaging Het
Slc28a3 C T 13: 58,721,257 (GRCm39) probably null Het
Slc8a1 A G 17: 81,696,301 (GRCm39) F911S probably damaging Het
Spata31e2 T C 1: 26,722,015 (GRCm39) Y1055C probably benign Het
Speg T A 1: 75,364,552 (GRCm39) L156* probably null Het
Spopl T G 2: 23,407,873 (GRCm39) M269L probably benign Het
Tacr1 C T 6: 82,534,054 (GRCm39) T360I probably benign Het
Tasor T A 14: 27,171,758 (GRCm39) L397* probably null Het
Tmem262 A G 19: 6,130,767 (GRCm39) E95G probably benign Het
Tmem68 G T 4: 3,569,669 (GRCm39) T7N possibly damaging Het
Top3a T A 11: 60,640,319 (GRCm39) I460F probably damaging Het
Trafd1 G A 5: 121,522,137 (GRCm39) R5* probably null Het
Trim16 T A 11: 62,731,695 (GRCm39) V435D possibly damaging Het
Tspan17 A G 13: 54,943,846 (GRCm39) D236G probably damaging Het
Tssk2 A T 16: 17,717,565 (GRCm39) M323L probably benign Het
Ubqln5 A G 7: 103,778,215 (GRCm39) V203A probably benign Het
Utrn A T 10: 12,569,214 (GRCm39) L1134* probably null Het
Vmn1r37 C T 6: 66,708,704 (GRCm39) S73F possibly damaging Het
Vps13c A G 9: 67,834,734 (GRCm39) K1688E probably damaging Het
Zbtb39 A G 10: 127,577,711 (GRCm39) D95G probably damaging Het
Zfhx3 T A 8: 109,527,160 (GRCm39) I1019N probably damaging Het
Zfp207 C T 11: 80,286,329 (GRCm39) probably benign Het
Zmiz1 C T 14: 25,644,062 (GRCm39) T169M 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
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'- ATGCCAGCCTTGAGTTGCTC -3'
(R):5'- AACAAAGGCTGGTGTCCCTG -3'

Sequencing Primer
(F):5'- AGCCTTGAGTTGCTCCAGCTC -3'
(R):5'- TGTCCCTGGAGACCTCGTG -3'
Posted On 2018-11-06