Incidental Mutation 'IGL01622:Dpy19l3'
ID278631
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: 0.140) question?
Stock #IGL01622
Quality Score
Status
Chromosome7
Chromosomal Location35685165-35754454 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 35722744 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 228 (T228I)
Ref Sequence ENSEMBL: ENSMUSP00000054747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000144416]
Predicted Effect probably damaging
Transcript: ENSMUST00000051377
AA Change: T228I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: T228I

DomainStartEndE-ValueType
Pfam:Dpy19 55 712 2.2e-243 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127782
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: ENSMUST00000155451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205751
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Gramd1c A G 16: 43,990,698 V221A probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign 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
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
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 On2015-04-16