Incidental Mutation 'IGL02949:Dpy19l1'
ID 364875
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 # IGL02949
Quality Score
Status
Chromosome 9
Chromosomal Location 24323074-24414436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24332476 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 662 (M662K)
Ref Sequence ENSEMBL: ENSMUSP00000129575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115277] [ENSMUST00000142064] [ENSMUST00000170356]
AlphaFold A6X919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098926
Predicted Effect probably benign
Transcript: ENSMUST00000115277
AA Change: M468K

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067
AA Change: M468K

DomainStartEndE-ValueType
Pfam:Dpy19 10 549 1.6e-212 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142064
AA Change: M662K

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: M662K

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 noncoding transcript
Transcript: ENSMUST00000149001
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152480
Predicted Effect probably benign
Transcript: ENSMUST00000170356
AA Change: M662K

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: M662K

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 G A 4: 144,344,490 (GRCm39) V89I probably damaging Het
Abhd5 T C 9: 122,206,980 (GRCm39) F89L possibly damaging Het
Akr1c13 T A 13: 4,248,593 (GRCm39) V266E probably damaging Het
B4galt2 C T 4: 117,738,602 (GRCm39) A72T probably benign Het
Ccdc141 T C 2: 76,857,938 (GRCm39) Y1081C probably damaging Het
Coq8b T C 7: 26,956,038 (GRCm39) V405A possibly damaging Het
Ddah2 A G 17: 35,280,776 (GRCm39) K251E probably damaging Het
Dnah5 T C 15: 28,272,331 (GRCm39) V1045A probably benign Het
Dpys A G 15: 39,690,279 (GRCm39) V358A probably damaging Het
H2-D1 A G 17: 35,483,064 (GRCm39) N198S probably benign Het
Hnrnpa1 T C 15: 103,150,538 (GRCm39) V163A probably damaging Het
Hr C T 14: 70,797,225 (GRCm39) R543C possibly damaging Het
Lct C T 1: 128,240,869 (GRCm39) V245M probably benign Het
Lpl G A 8: 69,345,400 (GRCm39) V135M probably damaging Het
Mblac1 T A 5: 138,193,119 (GRCm39) C154S probably benign Het
Mmp9 T C 2: 164,793,039 (GRCm39) F396S probably damaging Het
Mroh1 A T 15: 76,293,168 (GRCm39) H314L probably damaging Het
Msantd4 T A 9: 4,385,196 (GRCm39) L307Q probably damaging Het
Nol8 A G 13: 49,815,878 (GRCm39) D662G probably benign Het
Nynrin G A 14: 56,109,837 (GRCm39) S1648N probably damaging Het
Or52a20 A G 7: 103,366,427 (GRCm39) I209V probably benign Het
Plcb2 C T 2: 118,549,590 (GRCm39) probably null Het
Scyl2 T A 10: 89,496,163 (GRCm39) N229I possibly damaging Het
Spryd3 C T 15: 102,026,544 (GRCm39) E376K probably benign Het
Srr T G 11: 74,799,563 (GRCm39) E304A probably benign Het
Srsf1 A G 11: 87,940,352 (GRCm39) probably benign Het
Txnrd2 T G 16: 18,296,456 (GRCm39) S473A probably benign Het
Wdr18 T A 10: 79,800,889 (GRCm39) C151S probably benign Het
Zfp282 C T 6: 47,874,848 (GRCm39) T351I 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
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
IGL02677:Dpy19l1 APN 9 24,396,368 (GRCm39) missense probably damaging 1.00
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 2015-12-18