Incidental Mutation 'R1767:Dpy19l1'
ID 194479
Institutional Source Beutler Lab
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 # R1767 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 24323074-24414436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24373880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 270 (H270R)
Ref Sequence ENSEMBL: ENSMUSP00000129575 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115277] [ENSMUST00000142064] [ENSMUST00000170356]
AlphaFold A6X919
Predicted Effect probably benign
Transcript: ENSMUST00000115277
AA Change: H76R

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110932
Gene: ENSMUSG00000043067
AA Change: H76R

DomainStartEndE-ValueType
Pfam:Dpy19 10 549 1.6e-212 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142064
AA Change: H270R

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119986
Gene: ENSMUSG00000043067
AA Change: H270R

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 benign
Transcript: ENSMUST00000170356
AA Change: H270R

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129575
Gene: ENSMUSG00000043067
AA Change: H270R

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
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.4%
  • 20x: 92.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110065P20Rik T C 4: 124,743,754 (GRCm39) N128S possibly damaging Het
Adam26b T A 8: 43,972,948 (GRCm39) I685F probably benign Het
Adgrf5 A T 17: 43,761,455 (GRCm39) Y1050F possibly damaging Het
Alcam A T 16: 52,091,077 (GRCm39) N480K probably damaging Het
Alk T A 17: 72,207,693 (GRCm39) H1014L possibly damaging Het
Arhgef2 A G 3: 88,551,260 (GRCm39) Q778R probably damaging Het
Arhgef6 T C X: 56,383,922 (GRCm39) M5V probably benign Het
Ascc3 T A 10: 50,594,472 (GRCm39) I1189N probably damaging Het
AU040320 G A 4: 126,734,517 (GRCm39) G713D probably damaging Het
Bmpr1a A G 14: 34,169,727 (GRCm39) probably null Het
Bpifa6 A G 2: 153,829,147 (GRCm39) T225A possibly damaging Het
Cacna1g T C 11: 94,350,628 (GRCm39) S406G probably benign Het
Ccdc198 G A 14: 49,473,341 (GRCm39) T128I probably benign Het
Ccdc40 T A 11: 119,121,522 (GRCm39) probably null Het
Cckbr A T 7: 105,083,758 (GRCm39) I229F possibly damaging Het
Cers3 A G 7: 66,433,151 (GRCm39) K156R probably damaging Het
Chd1 T A 17: 15,990,565 (GRCm39) W1706R probably damaging Het
Col11a2 T A 17: 34,282,869 (GRCm39) probably benign Het
Coq10b A G 1: 55,100,513 (GRCm39) R66G probably damaging Het
Cpn2 A T 16: 30,078,485 (GRCm39) Y405* probably null Het
Dis3 A T 14: 99,321,578 (GRCm39) Y590N probably damaging Het
Dync1h1 G A 12: 110,602,943 (GRCm39) E2195K probably benign Het
Ephx1 C T 1: 180,822,242 (GRCm39) G101S probably damaging Het
Flg A T 3: 93,187,220 (GRCm39) Y224F possibly damaging Het
Focad G T 4: 88,275,705 (GRCm39) V1105L unknown Het
Fzd1 A G 5: 4,806,812 (GRCm39) Y257H probably benign Het
Gm11116 T C 5: 88,259,311 (GRCm39) probably benign Het
Gm11938 G A 11: 99,494,071 (GRCm39) S8F unknown Het
Grin3a A T 4: 49,844,423 (GRCm39) V220E probably damaging Het
Gstt2 T C 10: 75,670,098 (GRCm39) D8G probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hook3 A G 8: 26,561,084 (GRCm39) probably null Het
Itpr2 T C 6: 146,251,566 (GRCm39) D993G possibly damaging Het
Jhy T C 9: 40,872,444 (GRCm39) R22G probably benign Het
Krt13 A C 11: 100,011,926 (GRCm39) H132Q possibly damaging Het
Krtap27-1 G A 16: 88,468,199 (GRCm39) S115L probably damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Ly96 A G 1: 16,776,399 (GRCm39) T112A probably benign Het
Meltf G T 16: 31,702,747 (GRCm39) C158F probably damaging Het
Mycbp2 A T 14: 103,485,841 (GRCm39) H1040Q probably damaging Het
Npas4 G A 19: 5,038,211 (GRCm39) P199L probably benign Het
Or12j3 T C 7: 139,953,389 (GRCm39) I45V possibly damaging Het
Or52r1 T A 7: 102,536,833 (GRCm39) I176F probably damaging Het
Or8k3b A G 2: 86,520,728 (GRCm39) M197T probably benign Het
Pcdh10 A T 3: 45,338,612 (GRCm39) H923L probably damaging Het
Pias3 T C 3: 96,608,719 (GRCm39) S228P probably damaging Het
Pign A G 1: 105,580,917 (GRCm39) V154A probably benign Het
Plod3 T A 5: 137,019,030 (GRCm39) V305E possibly damaging Het
Prkra G T 2: 76,477,584 (GRCm39) H40Q possibly damaging Het
Prss22 T A 17: 24,215,331 (GRCm39) E148D probably benign Het
Psg17 A G 7: 18,550,727 (GRCm39) V376A possibly damaging Het
Retnlg A T 16: 48,693,991 (GRCm39) D49V possibly damaging Het
Rnf26rt A T 6: 76,474,588 (GRCm39) N9K unknown Het
Rtp1 A G 16: 23,250,124 (GRCm39) E163G probably damaging Het
Slc6a20a T A 9: 123,466,165 (GRCm39) I522F probably damaging Het
Slco5a1 T C 1: 13,059,839 (GRCm39) D294G probably damaging Het
Slco6d1 A G 1: 98,418,274 (GRCm39) T487A possibly damaging Het
Smarcc2 A T 10: 128,304,951 (GRCm39) D262V possibly damaging Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssbp3 G T 4: 106,904,612 (GRCm39) D336Y probably damaging Het
Sun2 A G 15: 79,609,758 (GRCm39) S694P probably benign Het
Tdp1 G A 12: 99,857,602 (GRCm39) probably null Het
Tfap2a A T 13: 40,878,613 (GRCm39) I204N probably damaging Het
Tfip11 T A 5: 112,482,298 (GRCm39) W519R probably damaging Het
Tie1 T C 4: 118,333,373 (GRCm39) E831G possibly damaging Het
Tjp1 A G 7: 64,962,301 (GRCm39) probably null Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tmem39b A C 4: 129,586,976 (GRCm39) I78M possibly damaging Het
Trank1 T C 9: 111,220,547 (GRCm39) V2428A probably benign Het
Trim35 A G 14: 66,541,617 (GRCm39) E247G probably damaging Het
Tsc22d1 T C 14: 76,655,542 (GRCm39) S674P probably damaging Het
Tsn A T 1: 118,228,618 (GRCm39) D201E probably damaging Het
Usp42 A T 5: 143,700,621 (GRCm39) V1134E possibly damaging Het
Uvrag A G 7: 98,748,601 (GRCm39) I117T probably damaging Het
Vmn1r192 A G 13: 22,371,441 (GRCm39) S260P probably benign Het
Vmn2r110 C T 17: 20,800,840 (GRCm39) A531T possibly damaging Het
Wdsub1 A T 2: 59,689,058 (GRCm39) I388N probably damaging Het
Wnt10b A T 15: 98,670,556 (GRCm39) L228Q probably damaging Het
Zbtb34 A C 2: 33,301,348 (GRCm39) S398A possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- CCTGGATAGGTTAGGCAAACAGTCG -3'
(R):5'- CCTTTGTGCCAAAGCAGTCTGTG -3'

Sequencing Primer
(F):5'- GTACTTTGCCCCTAACATAAGAGTC -3'
(R):5'- CCAAAGCAGTCTGTGTTGGTG -3'
Posted On 2014-05-23