Incidental Mutation 'IGL01912:Dpy19l1'
ID 279089
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 # IGL01912
Quality Score
Status
Chromosome 9
Chromosomal Location 24323074-24414436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24396365 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 117 (R117Q)
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: R117Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: R117Q

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: R117Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: R117Q

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A T 7: 45,769,934 (GRCm39) D860E probably damaging Het
Actl11 C A 9: 107,806,844 (GRCm39) P389Q probably damaging Het
Bsg G T 10: 79,545,974 (GRCm39) G103W probably null Het
Camk2d T A 3: 126,604,281 (GRCm39) probably null Het
Clcn7 T C 17: 25,371,983 (GRCm39) probably benign Het
Dctd C T 8: 48,564,697 (GRCm39) probably benign Het
Esyt2 T C 12: 116,303,229 (GRCm39) I289T probably damaging Het
Exoc6b A C 6: 84,602,156 (GRCm39) C753G probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm3633 T C 14: 42,462,743 (GRCm39) probably benign Het
Hrh3 A T 2: 179,743,169 (GRCm39) V153D probably damaging Het
Krt77 T A 15: 101,772,286 (GRCm39) probably benign Het
Nat3 T A 8: 68,000,398 (GRCm39) C92* probably null Het
Nckap1l T A 15: 103,382,573 (GRCm39) L525M probably benign Het
Nrp2 T A 1: 62,810,896 (GRCm39) C646S probably damaging Het
Or10a3m T C 7: 108,313,465 (GRCm39) Y290H possibly damaging Het
Or2ag16 T A 7: 106,352,199 (GRCm39) Y132F probably damaging Het
Or52n20 T C 7: 104,320,440 (GRCm39) I177T possibly damaging Het
Orc1 T C 4: 108,447,941 (GRCm39) Y63H probably damaging Het
Otud4 T C 8: 80,400,466 (GRCm39) V1059A probably benign Het
Ptprm A G 17: 67,353,113 (GRCm39) V235A probably benign Het
Rab3ip G T 10: 116,742,997 (GRCm39) Q443K probably benign Het
Tnc C A 4: 63,926,977 (GRCm39) D850Y probably damaging Het
Ubxn2b T A 4: 6,203,767 (GRCm39) probably null Het
Vmn1r233 T A 17: 21,214,467 (GRCm39) Y161F probably benign Het
Vmn1r54 T C 6: 90,246,442 (GRCm39) S119P probably damaging 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
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
IGL02677:Dpy19l1 APN 9 24,396,368 (GRCm39) missense probably damaging 1.00
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