Incidental Mutation 'R3814:Dpy19l3'
ID 274190
Institutional Source Beutler Lab
Gene Symbol Dpy19l3
Ensembl Gene ENSMUSG00000043671
Gene Name dpy-19 like C-mannosyltransferase 3
Synonyms 9330164H19Rik
MMRRC Submission 040769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R3814 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 35384925-35453879 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 35426717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 64 (Q64*)
Ref Sequence ENSEMBL: ENSMUSP00000122489 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000144416]
AlphaFold Q71B07
Predicted Effect probably null
Transcript: ENSMUST00000051377
AA Change: Q150*
SMART Domains Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: Q150*

DomainStartEndE-ValueType
Pfam:Dpy19 55 712 2.2e-243 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127782
Predicted Effect probably null
Transcript: ENSMUST00000144416
AA Change: Q64*
SMART Domains Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671
AA Change: Q64*

DomainStartEndE-ValueType
Pfam:Dpy19 1 114 2.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155451
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155993
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205751
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,642,343 (GRCm39) V4A probably damaging Het
Abca4 C T 3: 121,964,570 (GRCm39) probably benign Het
Adam20 G T 8: 41,248,712 (GRCm39) W274L probably damaging Het
Cep78 T C 19: 15,959,166 (GRCm39) probably null Het
Clhc1 T C 11: 29,521,826 (GRCm39) I453T possibly damaging Het
Cyp2c55 T A 19: 38,995,509 (GRCm39) L7Q probably damaging Het
Dnah2 A G 11: 69,383,476 (GRCm39) probably null Het
Enthd1 T A 15: 80,336,883 (GRCm39) Y517F probably benign Het
Fndc1 T C 17: 7,992,154 (GRCm39) H514R unknown Het
G2e3 C T 12: 51,400,444 (GRCm39) T32I probably benign Het
Glb1l2 A G 9: 26,682,330 (GRCm39) S302P probably benign Het
Ino80d C T 1: 63,113,583 (GRCm39) R289Q probably benign Het
Itsn1 T C 16: 91,649,809 (GRCm39) L161P possibly damaging Het
Kif19a A G 11: 114,672,745 (GRCm39) Y256C probably damaging Het
Lrriq1 T C 10: 103,051,972 (GRCm39) E260G probably damaging Het
Map3k5 T C 10: 19,901,936 (GRCm39) S328P probably damaging Het
Map3k5 T A 10: 20,016,426 (GRCm39) V1339D probably damaging Het
Mib1 G A 18: 10,763,281 (GRCm39) V444M probably benign Het
Mon2 T C 10: 122,849,470 (GRCm39) I1277V probably damaging Het
Mvp T A 7: 126,586,801 (GRCm39) M777L probably benign Het
Pik3c2a G A 7: 115,947,414 (GRCm39) R1423W probably damaging Het
Prdm16 T C 4: 154,412,750 (GRCm39) E1085G probably damaging Het
Prune1 A C 3: 95,172,750 (GRCm39) V105G probably damaging Het
Rbpj G T 5: 53,810,514 (GRCm39) E399* probably null Het
Rp1 C A 1: 4,419,931 (GRCm39) V394L probably benign Het
S100a4 G A 3: 90,513,152 (GRCm39) A83T probably benign Het
Satb1 T C 17: 52,089,935 (GRCm39) H304R probably damaging Het
Slc6a17 T C 3: 107,378,633 (GRCm39) E680G possibly damaging Het
Tbc1d4 A T 14: 101,696,191 (GRCm39) I919N possibly damaging Het
Vmn2r102 A T 17: 19,899,093 (GRCm39) K478N probably damaging Het
Zfp619 A C 7: 39,184,823 (GRCm39) R284S probably benign Het
Other mutations in Dpy19l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Dpy19l3 APN 7 35,392,192 (GRCm39) splice site probably benign
IGL01351:Dpy19l3 APN 7 35,426,840 (GRCm39) splice site probably benign
IGL01622:Dpy19l3 APN 7 35,422,169 (GRCm39) missense probably damaging 1.00
IGL01623:Dpy19l3 APN 7 35,422,169 (GRCm39) missense probably damaging 1.00
IGL01645:Dpy19l3 APN 7 35,394,763 (GRCm39) missense probably benign 0.00
IGL02725:Dpy19l3 APN 7 35,411,343 (GRCm39) missense probably benign 0.01
IGL02817:Dpy19l3 APN 7 35,392,233 (GRCm39) missense probably damaging 1.00
IGL03130:Dpy19l3 APN 7 35,452,097 (GRCm39) missense probably benign 0.00
IGL03178:Dpy19l3 APN 7 35,429,154 (GRCm39) nonsense probably null
IGL03374:Dpy19l3 APN 7 35,411,633 (GRCm39) missense possibly damaging 0.82
R0143:Dpy19l3 UTSW 7 35,413,640 (GRCm39) missense probably benign 0.19
R0164:Dpy19l3 UTSW 7 35,416,071 (GRCm39) missense probably damaging 0.98
R0164:Dpy19l3 UTSW 7 35,416,071 (GRCm39) missense probably damaging 0.98
R0385:Dpy19l3 UTSW 7 35,452,130 (GRCm39) missense probably damaging 0.97
R0705:Dpy19l3 UTSW 7 35,394,741 (GRCm39) missense probably damaging 0.96
R1489:Dpy19l3 UTSW 7 35,424,835 (GRCm39) nonsense probably null
R1640:Dpy19l3 UTSW 7 35,449,203 (GRCm39) missense probably benign 0.41
R1782:Dpy19l3 UTSW 7 35,407,580 (GRCm39) missense possibly damaging 0.94
R1843:Dpy19l3 UTSW 7 35,429,185 (GRCm39) missense probably damaging 1.00
R2096:Dpy19l3 UTSW 7 35,426,713 (GRCm39) critical splice donor site probably null
R4438:Dpy19l3 UTSW 7 35,392,284 (GRCm39) missense probably damaging 1.00
R4537:Dpy19l3 UTSW 7 35,411,326 (GRCm39) missense probably benign 0.01
R4735:Dpy19l3 UTSW 7 35,422,146 (GRCm39) missense probably benign 0.00
R4737:Dpy19l3 UTSW 7 35,402,926 (GRCm39) missense probably damaging 1.00
R4864:Dpy19l3 UTSW 7 35,411,607 (GRCm39) nonsense probably null
R4915:Dpy19l3 UTSW 7 35,452,167 (GRCm39) utr 5 prime probably benign
R4920:Dpy19l3 UTSW 7 35,407,467 (GRCm39) intron probably benign
R5300:Dpy19l3 UTSW 7 35,426,735 (GRCm39) missense probably damaging 1.00
R5527:Dpy19l3 UTSW 7 35,413,555 (GRCm39) missense possibly damaging 0.95
R5801:Dpy19l3 UTSW 7 35,424,723 (GRCm39) missense probably benign 0.10
R6815:Dpy19l3 UTSW 7 35,449,272 (GRCm39) missense possibly damaging 0.67
R7150:Dpy19l3 UTSW 7 35,408,055 (GRCm39) missense probably benign
R7198:Dpy19l3 UTSW 7 35,449,190 (GRCm39) missense possibly damaging 0.73
R7378:Dpy19l3 UTSW 7 35,452,067 (GRCm39) missense probably benign 0.10
R7625:Dpy19l3 UTSW 7 35,452,106 (GRCm39) missense probably benign
R7641:Dpy19l3 UTSW 7 35,394,734 (GRCm39) missense probably damaging 1.00
R7674:Dpy19l3 UTSW 7 35,394,734 (GRCm39) missense probably damaging 1.00
R8034:Dpy19l3 UTSW 7 35,449,281 (GRCm39) missense probably benign
R8073:Dpy19l3 UTSW 7 35,429,173 (GRCm39) missense probably damaging 1.00
R8183:Dpy19l3 UTSW 7 35,394,814 (GRCm39) missense probably damaging 0.96
R8206:Dpy19l3 UTSW 7 35,429,155 (GRCm39) missense probably damaging 1.00
R9299:Dpy19l3 UTSW 7 35,424,752 (GRCm39) nonsense probably null
R9765:Dpy19l3 UTSW 7 35,408,056 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTCAAGCTCTAGACTGCATGC -3'
(R):5'- GAGTATACACTGGTTGTCATTCAC -3'

Sequencing Primer
(F):5'- GCTCTAGACTGCATGCATAATTATG -3'
(R):5'- ATACACTGGTTGTCATTCACTCTTGG -3'
Posted On 2015-04-02