Incidental Mutation 'R8073:Dpy19l3'
ID 620343
Institutional Source Beutler Lab
Gene Symbol Dpy19l3
Ensembl Gene ENSMUSG00000043671
Gene Name dpy-19 like C-mannosyltransferase 3
Synonyms 9330164H19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.130) question?
Stock # R8073 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 35384925-35453879 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35429173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 89 (T89M)
Ref Sequence ENSEMBL: ENSMUSP00000054747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051377] [ENSMUST00000144416]
AlphaFold Q71B07
Predicted Effect probably damaging
Transcript: ENSMUST00000051377
AA Change: T89M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054747
Gene: ENSMUSG00000043671
AA Change: T89M

DomainStartEndE-ValueType
Pfam:Dpy19 55 712 2.2e-243 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000144416
AA Change: T3M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122489
Gene: ENSMUSG00000043671
AA Change: T3M

DomainStartEndE-ValueType
Pfam:Dpy19 1 114 2.5e-50 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,337,019 (GRCm39) V533I probably benign Het
Akap3 A T 6: 126,842,736 (GRCm39) T452S probably damaging Het
Angpt1 C T 15: 42,301,699 (GRCm39) M436I probably benign Het
B3galt4 T C 17: 34,169,797 (GRCm39) K147R probably damaging Het
Birc6 C A 17: 74,910,080 (GRCm39) T1491K probably damaging Het
Boll T C 1: 55,394,881 (GRCm39) probably benign Het
C6 T C 15: 4,764,675 (GRCm39) F124L probably benign Het
Camta1 T C 4: 151,163,281 (GRCm39) Y436C probably damaging Het
Celsr1 T C 15: 85,823,356 (GRCm39) N1684S probably benign Het
Cflar T C 1: 58,791,981 (GRCm39) L428P Het
Clk4 T C 11: 51,168,716 (GRCm39) I363T probably benign Het
Cnst A G 1: 179,434,002 (GRCm39) T273A probably benign Het
Col5a1 C T 2: 27,852,141 (GRCm39) A546V possibly damaging Het
Col6a6 T A 9: 105,659,146 (GRCm39) N600Y probably benign Het
Cxadr A G 16: 78,130,301 (GRCm39) N156S probably benign Het
Diaph1 C T 18: 38,024,850 (GRCm39) G537E unknown Het
Dmxl1 T A 18: 50,011,500 (GRCm39) V1219D probably damaging Het
Dnajb12 T A 10: 59,726,001 (GRCm39) Y95* probably null Het
Dnajc5g A G 5: 31,269,029 (GRCm39) T137A probably benign Het
Dusp19 C A 2: 80,447,828 (GRCm39) T34N probably benign Het
Eln CTCCAGCTCCGAT C 5: 134,758,003 (GRCm39) probably benign Het
Enpp1 A G 10: 24,555,142 (GRCm39) V68A possibly damaging Het
Epha7 T A 4: 28,821,022 (GRCm39) D62E probably damaging Het
Frmd4b A T 6: 97,283,674 (GRCm39) V445E probably benign Het
Gp9 A C 6: 87,756,336 (GRCm39) D117A probably benign Het
Haao T C 17: 84,142,649 (GRCm39) E152G possibly damaging Het
Ift70a2 A G 2: 75,806,997 (GRCm39) V505A probably damaging Het
Ighd A G 12: 113,379,789 (GRCm39) S52P probably benign Het
Ikzf3 T C 11: 98,358,255 (GRCm39) K361E probably benign Het
Lgi2 T A 5: 52,704,013 (GRCm39) E206V probably benign Het
Mfsd11 T A 11: 116,754,749 (GRCm39) V220E probably benign Het
Moxd1 G T 10: 24,128,848 (GRCm39) G200C probably damaging Het
Mthfd1l C A 10: 3,923,417 (GRCm39) Q55K probably benign Het
Nlrp9a T A 7: 26,260,260 (GRCm39) L672M probably damaging Het
Npvf A C 6: 50,631,349 (GRCm39) F9V probably damaging Het
Nup205 G T 6: 35,179,104 (GRCm39) probably null Het
Nup43 T C 10: 7,546,713 (GRCm39) V111A probably benign Het
Obscn C T 11: 59,026,516 (GRCm39) R229H probably benign Het
Olfml2a C A 2: 38,847,766 (GRCm39) R442S probably damaging Het
Or10j2 A G 1: 173,098,552 (GRCm39) D270G probably benign Het
Or2ag16 C A 7: 106,352,008 (GRCm39) E196* probably null Het
Or4c120 T A 2: 89,001,284 (GRCm39) I91F probably damaging Het
Or5b12b T A 19: 12,861,980 (GRCm39) V245E probably benign Het
Or9s13 T A 1: 92,547,806 (GRCm39) D59E probably damaging Het
Pcdhga7 T C 18: 37,848,398 (GRCm39) F135S probably damaging Het
Pde4a A T 9: 21,122,065 (GRCm39) I654F probably damaging Het
Pip5kl1 G A 2: 32,473,440 (GRCm39) R359Q possibly damaging Het
Ppp2ca T C 11: 52,010,124 (GRCm39) V244A possibly damaging Het
Qrich1 T A 9: 108,411,627 (GRCm39) L384H possibly damaging Het
Rab4a T C 8: 124,554,135 (GRCm39) V62A possibly damaging Het
Ranbp10 A G 8: 106,513,261 (GRCm39) L217P probably damaging Het
Rhebl1 C T 15: 98,776,405 (GRCm39) A131T probably benign Het
Rnf150 A T 8: 83,590,546 (GRCm39) probably benign Het
Slc32a1 G A 2: 158,456,685 (GRCm39) A447T probably damaging Het
Spag5 T A 11: 78,192,803 (GRCm39) M45K probably benign Het
Spata13 A G 14: 60,928,705 (GRCm39) N88D probably damaging Het
Spred2 C A 11: 19,958,422 (GRCm39) T128N probably benign Het
Tenm2 T C 11: 36,030,471 (GRCm39) E776G possibly damaging Het
Tet1 C G 10: 62,649,132 (GRCm39) E156Q probably damaging Het
Tmc1 T C 19: 20,845,725 (GRCm39) N166S probably benign Het
Trim43a C A 9: 88,464,490 (GRCm39) Q134K possibly damaging Het
Tsks A T 7: 44,607,305 (GRCm39) M543L probably benign Het
Ttn T C 2: 76,574,181 (GRCm39) K25571E probably damaging Het
Vamp5 C A 6: 72,357,436 (GRCm39) probably benign Het
Vmn2r79 A T 7: 86,651,462 (GRCm39) Q287L probably benign Het
Zfp326 T A 5: 106,062,682 (GRCm39) V517E unknown Het
Zfp467 A T 6: 48,414,959 (GRCm39) H564Q probably damaging Het
Zfp51 G A 17: 21,684,294 (GRCm39) C303Y probably damaging 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
R3814:Dpy19l3 UTSW 7 35,426,717 (GRCm39) nonsense 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
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'- AGAGATGGCTCAGTGAGTACA -3'
(R):5'- AGAATGACCTGGCCCATCC -3'

Sequencing Primer
(F):5'- CAGTGAGTACAGTCTGATTCCCAG -3'
(R):5'- ATAGAGTCTCCAGGTCAGCCTTG -3'
Posted On 2020-01-23