Incidental Mutation 'IGL02677:Dpy19l1'
ID 303175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dpy19l1
Ensembl Gene ENSMUSG00000043067
Gene Name dpy-19 like C-mannosyltransferase 1
Synonyms 1100001I19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.160) question?
Stock # IGL02677
Quality Score
Status
Chromosome 9
Chromosomal Location 24323074-24414436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24396368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 116 (D116G)
Ref Sequence ENSEMBL: ENSMUSP00000129575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115277] [ENSMUST00000142064] [ENSMUST00000170356]
AlphaFold A6X919
Predicted Effect probably benign
Transcript: ENSMUST00000115277
SMART Domains Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067

DomainStartEndE-ValueType
Pfam:Dpy19 10 549 1.6e-212 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129048
Predicted Effect probably damaging
Transcript: ENSMUST00000142064
AA Change: D116G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: D116G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 42 69 N/A INTRINSIC
Pfam:Dpy19 99 743 2e-247 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170356
AA Change: D116G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: D116G

DomainStartEndE-ValueType
low complexity region 12 26 N/A INTRINSIC
low complexity region 42 69 N/A INTRINSIC
Pfam:Dpy19 98 743 5.5e-264 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tap2 G A 17: 34,431,021 (GRCm39) V374M probably benign Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A probably benign Het
Other mutations in Dpy19l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Dpy19l1 APN 9 24,393,226 (GRCm39) missense probably damaging 0.99
IGL00788:Dpy19l1 APN 9 24,373,864 (GRCm39) splice site probably benign
IGL00959:Dpy19l1 APN 9 24,334,493 (GRCm39) splice site probably null
IGL01646:Dpy19l1 APN 9 24,396,365 (GRCm39) missense probably damaging 0.99
IGL01647:Dpy19l1 APN 9 24,396,365 (GRCm39) missense probably damaging 0.99
IGL01713:Dpy19l1 APN 9 24,396,365 (GRCm39) missense probably damaging 0.99
IGL01715:Dpy19l1 APN 9 24,396,365 (GRCm39) missense probably damaging 0.99
IGL01743:Dpy19l1 APN 9 24,396,365 (GRCm39) missense probably damaging 0.99
IGL01912:Dpy19l1 APN 9 24,396,365 (GRCm39) missense probably damaging 0.99
IGL02417:Dpy19l1 APN 9 24,386,682 (GRCm39) missense possibly damaging 0.48
IGL02629:Dpy19l1 APN 9 24,350,009 (GRCm39) splice site probably benign
IGL02949:Dpy19l1 APN 9 24,332,476 (GRCm39) missense probably benign 0.44
IGL03067:Dpy19l1 APN 9 24,349,956 (GRCm39) missense probably benign 0.00
G1Funyon:Dpy19l1 UTSW 9 24,396,407 (GRCm39) splice site probably benign
R0066:Dpy19l1 UTSW 9 24,325,705 (GRCm39) missense possibly damaging 0.95
R0207:Dpy19l1 UTSW 9 24,365,187 (GRCm39) missense probably damaging 1.00
R0462:Dpy19l1 UTSW 9 24,325,645 (GRCm39) missense probably benign 0.01
R0544:Dpy19l1 UTSW 9 24,396,406 (GRCm39) splice site probably benign
R0749:Dpy19l1 UTSW 9 24,373,880 (GRCm39) missense probably benign 0.35
R0838:Dpy19l1 UTSW 9 24,343,727 (GRCm39) missense probably damaging 0.98
R1114:Dpy19l1 UTSW 9 24,336,072 (GRCm39) missense probably benign 0.30
R1546:Dpy19l1 UTSW 9 24,386,680 (GRCm39) missense probably damaging 0.98
R1767:Dpy19l1 UTSW 9 24,373,880 (GRCm39) missense probably benign 0.35
R1926:Dpy19l1 UTSW 9 24,385,120 (GRCm39) missense probably benign
R1933:Dpy19l1 UTSW 9 24,345,683 (GRCm39) missense probably damaging 0.99
R2046:Dpy19l1 UTSW 9 24,334,455 (GRCm39) missense probably damaging 0.98
R2101:Dpy19l1 UTSW 9 24,393,331 (GRCm39) missense probably damaging 0.99
R4083:Dpy19l1 UTSW 9 24,396,344 (GRCm39) missense possibly damaging 0.86
R4565:Dpy19l1 UTSW 9 24,343,684 (GRCm39) missense probably null 1.00
R4649:Dpy19l1 UTSW 9 24,393,350 (GRCm39) missense possibly damaging 0.94
R4652:Dpy19l1 UTSW 9 24,393,350 (GRCm39) missense possibly damaging 0.94
R4653:Dpy19l1 UTSW 9 24,393,350 (GRCm39) missense possibly damaging 0.94
R4669:Dpy19l1 UTSW 9 24,343,664 (GRCm39) missense possibly damaging 0.94
R4746:Dpy19l1 UTSW 9 24,361,966 (GRCm39) missense probably benign 0.29
R4769:Dpy19l1 UTSW 9 24,337,444 (GRCm39) missense probably damaging 0.99
R4785:Dpy19l1 UTSW 9 24,336,119 (GRCm39) missense probably damaging 1.00
R5177:Dpy19l1 UTSW 9 24,349,924 (GRCm39) critical splice donor site probably null
R5466:Dpy19l1 UTSW 9 24,325,684 (GRCm39) missense probably damaging 0.99
R5707:Dpy19l1 UTSW 9 24,325,563 (GRCm39) makesense probably null
R6265:Dpy19l1 UTSW 9 24,343,667 (GRCm39) missense possibly damaging 0.88
R6266:Dpy19l1 UTSW 9 24,350,442 (GRCm39) missense probably damaging 0.99
R6290:Dpy19l1 UTSW 9 24,373,896 (GRCm39) missense probably damaging 1.00
R6380:Dpy19l1 UTSW 9 24,393,341 (GRCm39) nonsense probably null
R6478:Dpy19l1 UTSW 9 24,361,992 (GRCm39) missense possibly damaging 0.88
R6581:Dpy19l1 UTSW 9 24,359,160 (GRCm39) missense possibly damaging 0.68
R6756:Dpy19l1 UTSW 9 24,385,080 (GRCm39) missense probably damaging 0.99
R6773:Dpy19l1 UTSW 9 24,352,068 (GRCm39) missense probably damaging 0.97
R6795:Dpy19l1 UTSW 9 24,414,158 (GRCm39) missense possibly damaging 0.53
R6796:Dpy19l1 UTSW 9 24,414,158 (GRCm39) missense possibly damaging 0.53
R7060:Dpy19l1 UTSW 9 24,334,419 (GRCm39) missense possibly damaging 0.88
R7862:Dpy19l1 UTSW 9 24,386,730 (GRCm39) missense probably damaging 1.00
R7921:Dpy19l1 UTSW 9 24,333,634 (GRCm39) missense possibly damaging 0.85
R8095:Dpy19l1 UTSW 9 24,396,160 (GRCm39) splice site probably null
R8192:Dpy19l1 UTSW 9 24,362,023 (GRCm39) missense possibly damaging 0.75
R8248:Dpy19l1 UTSW 9 24,414,191 (GRCm39) missense probably benign
R8296:Dpy19l1 UTSW 9 24,414,372 (GRCm39) missense probably benign 0.00
R8301:Dpy19l1 UTSW 9 24,396,407 (GRCm39) splice site probably benign
R8307:Dpy19l1 UTSW 9 24,414,297 (GRCm39) missense probably benign
R8328:Dpy19l1 UTSW 9 24,386,686 (GRCm39) nonsense probably null
R8975:Dpy19l1 UTSW 9 24,359,102 (GRCm39) missense probably damaging 0.98
R9283:Dpy19l1 UTSW 9 24,332,412 (GRCm39) nonsense probably null
R9661:Dpy19l1 UTSW 9 24,386,730 (GRCm39) missense probably damaging 1.00
X0025:Dpy19l1 UTSW 9 24,343,676 (GRCm39) missense probably benign
Posted On 2015-04-16