Incidental Mutation 'IGL03374:Dpy19l3'
ID420424
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: 0.168) question?
Stock #IGL03374
Quality Score
Status
Chromosome7
Chromosomal Location35685165-35754454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35712208 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 367 (N367S)
Ref Sequence ENSEMBL: ENSMUSP00000054747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000143590] [ENSMUST00000144416]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051377
AA Change: N367S

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: N367S

DomainStartEndE-ValueType
Pfam:Dpy19 55 712 2.2e-243 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127782
Predicted Effect probably benign
Transcript: ENSMUST00000143590
Predicted Effect probably benign
Transcript: ENSMUST00000144416
SMART Domains Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671

DomainStartEndE-ValueType
Pfam:Dpy19 1 114 2.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150862
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206004
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox3 G A 1: 58,171,848 R917Q probably damaging Het
Atl1 T C 12: 69,955,367 Y367H probably damaging Het
AW551984 T C 9: 39,599,766 E175G possibly damaging Het
Cacna2d1 T A 5: 16,356,823 D800E probably damaging Het
Cdon T A 9: 35,478,003 F801L possibly damaging Het
D10Wsu102e G A 10: 83,365,707 V115M probably damaging Het
Dcaf13 C T 15: 39,145,148 Q382* probably null Het
F11 A G 8: 45,261,074 S3P possibly damaging Het
Fam160a2 T C 7: 105,383,951 E57G probably damaging Het
Fryl A T 5: 73,110,281 probably benign Het
Gcnt3 A T 9: 70,034,413 M291K possibly damaging Het
Glg1 T C 8: 111,162,780 D927G probably damaging Het
Gm5862 C A 5: 26,019,512 R153L probably damaging Het
Gucy2c T C 6: 136,765,630 T237A probably benign Het
Helz A T 11: 107,620,147 I610F probably damaging Het
Hpd T C 5: 123,172,045 E372G probably damaging Het
Hsd17b13 A G 5: 103,977,098 probably benign Het
Klhl32 G A 4: 24,649,533 probably benign Het
Krt74 T A 15: 101,760,502 noncoding transcript Het
Olfr1015 T C 2: 85,785,709 L66P probably damaging Het
Olfr304 T A 7: 86,386,366 Q98L probably damaging Het
Phyhipl A G 10: 70,565,279 V163A possibly damaging Het
Pknox2 T A 9: 36,923,670 T168S probably damaging Het
Pmfbp1 T C 8: 109,542,414 probably benign Het
Sgce G A 6: 4,689,718 R372* probably null Het
Stard5 T C 7: 83,636,772 S102P possibly damaging Het
Syne2 A G 12: 76,074,586 K5941R possibly damaging Het
Tas2r124 A T 6: 132,755,118 H130L probably benign Het
Ttn T C 2: 76,715,683 E32462G probably damaging Het
Ube2d3 A G 3: 135,460,083 probably null Het
Vps13d G T 4: 145,108,575 H1561Q possibly damaging Het
Zcchc11 T C 4: 108,558,777 S1647P 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
IGL02817:Dpy19l3 APN 7 35692808 missense probably damaging 1.00
IGL03130:Dpy19l3 APN 7 35752672 missense probably benign 0.00
IGL03178:Dpy19l3 APN 7 35729729 nonsense probably null
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 On2016-08-02