Incidental Mutation 'IGL03083:Emilin3'
ID 417970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emilin3
Ensembl Gene ENSMUSG00000050700
Gene Name elastin microfibril interfacer 3
Synonyms 1110013O17Rik, EMILIN-T, Emilin5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03083
Quality Score
Status
Chromosome 2
Chromosomal Location 160748357-160754248 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 160750649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 320 (Q320*)
Ref Sequence ENSEMBL: ENSMUSP00000105080 (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 null
Transcript: ENSMUST00000057169
AA Change: Q367*
SMART Domains Protein: ENSMUSP00000059732
Gene: ENSMUSG00000050700
AA Change: Q367*

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: Q320*
SMART Domains Protein: ENSMUSP00000105080
Gene: ENSMUSG00000050700
AA Change: Q320*

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 0.9755 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,932,261 (GRCm39) probably null Het
Acadsb A C 7: 131,042,922 (GRCm39) probably benign Het
Ankk1 A G 9: 49,333,166 (GRCm39) L106P probably benign Het
Ankrd24 G A 10: 81,474,483 (GRCm39) A72T probably benign Het
Ankrd35 A T 3: 96,592,117 (GRCm39) Q801L probably damaging Het
Avil A G 10: 126,852,193 (GRCm39) I659M probably benign Het
Ccnc A G 4: 21,742,683 (GRCm39) D170G possibly damaging Het
Cfap57 T C 4: 118,441,936 (GRCm39) K711E probably damaging Het
Dctn1 T C 6: 83,174,466 (GRCm39) probably benign Het
Dpp6 T C 5: 27,914,548 (GRCm39) probably null Het
Efhb A T 17: 53,706,087 (GRCm39) W817R probably damaging Het
Fer1l4 A G 2: 155,881,286 (GRCm39) probably benign Het
Fgf8 T C 19: 45,725,667 (GRCm39) N137S probably damaging Het
Fndc3b T C 3: 27,521,576 (GRCm39) D533G probably benign Het
Fshb A G 2: 106,887,812 (GRCm39) V69A probably benign Het
Galnt7 A T 8: 57,979,223 (GRCm39) H633Q probably damaging Het
Gm5458 A G 14: 19,652,451 (GRCm39) probably null Het
Hjv T A 3: 96,435,922 (GRCm39) D393E probably benign Het
Hpca A C 4: 129,012,319 (GRCm39) F72L probably damaging Het
Inpp5d A T 1: 87,638,863 (GRCm39) D552V probably damaging Het
Lepr C T 4: 101,671,876 (GRCm39) Q967* probably null Het
Lgr5 A G 10: 115,288,937 (GRCm39) V497A probably benign Het
Matr3 A G 18: 35,705,471 (GRCm39) K132R probably damaging Het
Mib1 T G 18: 10,752,029 (GRCm39) probably null Het
Mios T A 6: 8,215,156 (GRCm39) N117K probably damaging Het
Nab1 T C 1: 52,529,429 (GRCm39) D156G probably benign Het
Nfxl1 C T 5: 72,698,005 (GRCm39) probably benign Het
Nutm2 G A 13: 50,621,480 (GRCm39) G15E probably damaging Het
Oca2 A G 7: 55,945,232 (GRCm39) H280R probably benign Het
Or10al2 C A 17: 37,983,551 (GRCm39) C212* probably null Het
Or4d1 T C 11: 87,804,914 (GRCm39) I273V probably benign Het
P2ry1 A G 3: 60,911,736 (GRCm39) T292A probably benign Het
Pcna C T 2: 132,093,673 (GRCm39) E109K probably benign Het
Pidd1 A G 7: 141,020,369 (GRCm39) probably null Het
Pitpnm2 T C 5: 124,271,445 (GRCm39) E376G possibly damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Polr2a T C 11: 69,635,872 (GRCm39) probably null Het
Sbno2 A T 10: 79,893,368 (GRCm39) M1311K probably damaging Het
Senp7 A G 16: 55,992,228 (GRCm39) N701S probably benign Het
Sirpa T A 2: 129,471,848 (GRCm39) I211N probably damaging Het
Slc9a4 A G 1: 40,668,562 (GRCm39) E735G probably benign Het
Sorbs1 C T 19: 40,302,820 (GRCm39) M790I probably damaging Het
Sult1e1 T A 5: 87,737,983 (GRCm39) M33L probably benign Het
Tapbpl G A 6: 125,205,191 (GRCm39) probably null Het
Top1 A G 2: 160,545,498 (GRCm39) T289A probably damaging Het
Trim58 T A 11: 58,542,216 (GRCm39) M392K probably benign Het
Uaca A G 9: 60,770,945 (GRCm39) I371V probably benign Het
Vmn1r54 T C 6: 90,246,854 (GRCm39) I256T possibly damaging Het
Wdr19 T C 5: 65,388,319 (GRCm39) I668T 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
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
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
Posted On 2016-08-02