Incidental Mutation 'IGL02817:Dpy19l3'
ID360838
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpy19l3
Ensembl Gene ENSMUSG00000043671
Gene Namedpy-19-like 3 (C. elegans)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL02817
Quality Score
Status
Chromosome7
Chromosomal Location35685165-35754454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35692808 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 653 (L653P)
Ref Sequence ENSEMBL: ENSMUSP00000054747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000143590]
Predicted Effect probably damaging
Transcript: ENSMUST00000051377
AA Change: L653P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: L653P

DomainStartEndE-ValueType
Pfam:Dpy19 55 712 2.2e-243 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143590
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI182371 A G 2: 35,100,649 V12A probably damaging Het
Ash1l C A 3: 88,984,801 P1329H probably damaging Het
Bpifb3 T C 2: 153,919,646 V5A unknown Het
Cep350 A G 1: 155,928,842 S832P probably damaging Het
Chd1 A T 17: 15,749,500 H947L possibly damaging Het
Clec4b1 A T 6: 123,068,485 H88L possibly damaging Het
Col4a1 A G 8: 11,220,259 L859P probably damaging Het
Cyp2f2 T A 7: 27,129,315 N203K probably damaging Het
Dgka G A 10: 128,730,228 T351I probably benign Het
Dmc1 G A 15: 79,588,763 T161I probably damaging Het
Dnah8 A G 17: 30,668,295 N688D probably benign Het
Drc3 A G 11: 60,384,236 E341G probably benign Het
Fam155a A T 8: 9,207,994 C385S probably damaging Het
Fcrl5 T G 3: 87,435,913 V10G probably benign Het
Fgfr4 T C 13: 55,156,668 probably null Het
Gli2 T C 1: 118,836,371 H1350R possibly damaging Het
Gm3248 A G 14: 5,945,825 S30P probably benign Het
Grik4 T C 9: 42,622,939 N349S probably benign Het
Ifnar2 G T 16: 91,387,992 K90N probably benign Het
Kcp A T 6: 29,496,969 I547N probably damaging Het
L3mbtl4 A T 17: 68,630,254 E423D probably benign Het
Mapkap1 T C 2: 34,563,118 L341P probably damaging Het
Mdm1 A G 10: 118,164,346 Q618R possibly damaging Het
Medag A T 5: 149,427,038 R51* probably null Het
Myo1f G A 17: 33,604,558 R1020K probably benign Het
Myrf T C 19: 10,225,452 N153D probably benign Het
Naf1 T C 8: 66,883,525 I368T probably damaging Het
Ncapd2 A G 6: 125,170,914 probably null Het
Nsfl1c T A 2: 151,500,731 S74T probably damaging Het
Olfr1097 T C 2: 86,890,593 N194S probably benign Het
Olfr435 A T 6: 43,202,059 R138S probably benign Het
Olfr780 A G 10: 129,321,895 T91A probably benign Het
Ptgfrn T A 3: 101,060,752 E508D probably benign Het
Ryr3 C A 2: 112,844,623 probably null Het
Snx27 A G 3: 94,503,463 L460P probably damaging Het
Sp4 G T 12: 118,299,552 T253K probably damaging Het
Trio T C 15: 27,902,881 I165V probably benign Het
Txnl4b A G 8: 109,572,846 Y146C probably damaging Het
Vmn1r42 A G 6: 89,845,536 M17T probably damaging Het
Zer1 T C 2: 30,103,394 I567V probably damaging Het
Other mutations in Dpy19l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Dpy19l3 APN 7 35692767 splice site probably benign
IGL01351:Dpy19l3 APN 7 35727415 splice site probably benign
IGL01622:Dpy19l3 APN 7 35722744 missense probably damaging 1.00
IGL01623:Dpy19l3 APN 7 35722744 missense probably damaging 1.00
IGL01645:Dpy19l3 APN 7 35695338 missense probably benign 0.00
IGL02725:Dpy19l3 APN 7 35711918 missense probably benign 0.01
IGL03130:Dpy19l3 APN 7 35752672 missense probably benign 0.00
IGL03178:Dpy19l3 APN 7 35729729 nonsense probably null
IGL03374:Dpy19l3 APN 7 35712208 missense possibly damaging 0.82
R0143:Dpy19l3 UTSW 7 35714215 missense probably benign 0.19
R0164:Dpy19l3 UTSW 7 35716646 missense probably damaging 0.98
R0164:Dpy19l3 UTSW 7 35716646 missense probably damaging 0.98
R0385:Dpy19l3 UTSW 7 35752705 missense probably damaging 0.97
R0705:Dpy19l3 UTSW 7 35695316 missense probably damaging 0.96
R1489:Dpy19l3 UTSW 7 35725410 nonsense probably null
R1640:Dpy19l3 UTSW 7 35749778 missense probably benign 0.41
R1782:Dpy19l3 UTSW 7 35708155 missense possibly damaging 0.94
R1843:Dpy19l3 UTSW 7 35729760 missense probably damaging 1.00
R2096:Dpy19l3 UTSW 7 35727288 critical splice donor site probably null
R3814:Dpy19l3 UTSW 7 35727292 nonsense probably null
R4438:Dpy19l3 UTSW 7 35692859 missense probably damaging 1.00
R4537:Dpy19l3 UTSW 7 35711901 missense probably benign 0.01
R4735:Dpy19l3 UTSW 7 35722721 missense probably benign 0.00
R4737:Dpy19l3 UTSW 7 35703501 missense probably damaging 1.00
R4864:Dpy19l3 UTSW 7 35712182 nonsense probably null
R4915:Dpy19l3 UTSW 7 35752742 utr 5 prime probably benign
R4920:Dpy19l3 UTSW 7 35708042 intron probably benign
R5300:Dpy19l3 UTSW 7 35727310 missense probably damaging 1.00
R5527:Dpy19l3 UTSW 7 35714130 missense possibly damaging 0.95
R5801:Dpy19l3 UTSW 7 35725298 missense probably benign 0.10
R6815:Dpy19l3 UTSW 7 35749847 missense possibly damaging 0.67
R7150:Dpy19l3 UTSW 7 35708630 missense probably benign
R7198:Dpy19l3 UTSW 7 35749765 missense possibly damaging 0.73
R7378:Dpy19l3 UTSW 7 35752642 missense probably benign 0.10
R7625:Dpy19l3 UTSW 7 35752681 missense probably benign
R7641:Dpy19l3 UTSW 7 35695309 missense probably damaging 1.00
R7674:Dpy19l3 UTSW 7 35695309 missense probably damaging 1.00
R8034:Dpy19l3 UTSW 7 35749856 missense probably benign
R8073:Dpy19l3 UTSW 7 35729748 missense probably damaging 1.00
R8183:Dpy19l3 UTSW 7 35695389 missense probably damaging 0.96
R8206:Dpy19l3 UTSW 7 35729730 missense probably damaging 1.00
Posted On2015-12-18