Incidental Mutation 'R4722:Dpy19l4'
ID 401901
Institutional Source Beutler Lab
Gene Symbol Dpy19l4
Ensembl Gene ENSMUSG00000045205
Gene Name dpy-19 like 4
Synonyms Narg3, LOC381510
MMRRC Submission 041987-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R4722 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 11261315-11322137 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11290521 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 290 (V290A)
Ref Sequence ENSEMBL: ENSMUSP00000081954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084892] [ENSMUST00000128024] [ENSMUST00000139385] [ENSMUST00000142005]
AlphaFold A2AJQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000084892
AA Change: V290A

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000081954
Gene: ENSMUSG00000045205
AA Change: V290A

DomainStartEndE-ValueType
Pfam:Dpy19 59 714 3e-213 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128024
SMART Domains Protein: ENSMUSP00000122823
Gene: ENSMUSG00000045205

DomainStartEndE-ValueType
Pfam:Dpy19 58 293 1e-89 PFAM
Pfam:Dpy19 291 524 4.8e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000139385
AA Change: V104A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115537
Gene: ENSMUSG00000045205
AA Change: V104A

DomainStartEndE-ValueType
Pfam:Dpy19 1 258 3.2e-71 PFAM
Pfam:Dpy19 254 488 7e-70 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000142005
SMART Domains Protein: ENSMUSP00000119923
Gene: ENSMUSG00000045205

DomainStartEndE-ValueType
Pfam:Dpy19 58 253 6.9e-77 PFAM
Meta Mutation Damage Score 0.3487 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 99% (68/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik G T 12: 55,107,922 (GRCm39) D92E probably benign Het
Abca17 A G 17: 24,484,403 (GRCm39) F1620L probably damaging Het
Abcf1 T C 17: 36,268,933 (GRCm39) probably benign Het
Adtrp T C 13: 41,920,823 (GRCm39) H248R probably benign Het
Aldh1b1 T G 4: 45,803,472 (GRCm39) F337V probably damaging Het
Amz2 C T 11: 109,325,457 (GRCm39) L272F probably damaging Het
Asic2 A T 11: 81,859,009 (GRCm39) M1K probably null Het
Avpr1a T A 10: 122,284,906 (GRCm39) V66E possibly damaging Het
AW554918 C A 18: 25,307,772 (GRCm39) Y28* probably null Het
Cdc25b C T 2: 131,035,271 (GRCm39) P343L probably damaging Het
Chd7 T A 4: 8,822,445 (GRCm39) I846K probably damaging Het
Dnajc13 A T 9: 104,091,017 (GRCm39) M688K probably benign Het
Dock2 T A 11: 34,586,298 (GRCm39) I505F probably damaging Het
Dtl G T 1: 191,288,953 (GRCm39) Q254K possibly damaging Het
Enpp2 T G 15: 54,750,985 (GRCm39) K265T probably damaging Het
Epm2aip1 TGTCGCCG TG 9: 111,101,152 (GRCm39) probably benign Het
Fam133b T A 5: 3,593,949 (GRCm39) probably null Het
Fuom A G 7: 139,679,480 (GRCm39) probably benign Het
Fut9 T C 4: 25,799,734 (GRCm39) probably benign Het
Gas8 T A 8: 124,252,374 (GRCm39) I171N possibly damaging Het
Gipc3 T G 10: 81,177,129 (GRCm39) D147A probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5591 T C 7: 38,218,572 (GRCm39) K767R probably damaging Het
Kctd8 G A 5: 69,498,544 (GRCm39) P34L possibly damaging Het
Kmt2b G A 7: 30,282,627 (GRCm39) R403C probably damaging Het
Krt84 A T 15: 101,436,846 (GRCm39) I396N probably damaging Het
Lrrk2 C A 15: 91,573,104 (GRCm39) F217L probably damaging Het
Med27 T A 2: 29,414,447 (GRCm39) D290E probably damaging Het
Mical3 T C 6: 121,015,486 (GRCm39) Q184R probably benign Het
Mlxip A T 5: 123,585,265 (GRCm39) K591M probably benign Het
Mutyh T A 4: 116,674,069 (GRCm39) L233H probably damaging Het
Naip6 G T 13: 100,443,580 (GRCm39) H253N possibly damaging Het
Nynrin A G 14: 56,091,852 (GRCm39) E56G probably damaging Het
Oip5 C T 2: 119,443,492 (GRCm39) probably null Het
Or10a4 T A 7: 106,696,777 (GRCm39) I35N possibly damaging Het
Or10ak12 T C 4: 118,666,146 (GRCm39) N305S probably damaging Het
Or4c104 T G 2: 88,586,356 (GRCm39) H221P possibly damaging Het
Or4c15 T C 2: 88,760,324 (GRCm39) I112V possibly damaging Het
Or5p61 T A 7: 107,758,445 (GRCm39) I212F probably benign Het
Oxr1 T C 15: 41,677,045 (GRCm39) S132P probably damaging Het
Pcdhac1 C T 18: 37,224,933 (GRCm39) T582I probably damaging Het
Prl7a2 A G 13: 27,844,858 (GRCm39) I176T probably damaging Het
Rabgap1l T C 1: 160,169,734 (GRCm39) T30A possibly damaging Het
Rapgef2 A G 3: 78,976,480 (GRCm39) M1294T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Rnmt T A 18: 68,438,952 (GRCm39) N20K probably damaging Het
Scn7a T A 2: 66,531,228 (GRCm39) T550S possibly damaging Het
Shank1 T A 7: 43,962,638 (GRCm39) Y117* probably null Het
Skint5 T A 4: 113,751,052 (GRCm39) K331I unknown Het
Slc5a1 A G 5: 33,304,055 (GRCm39) Y290C possibly damaging Het
Slfn14 T C 11: 83,174,244 (GRCm39) E249G probably benign Het
Smarcal1 T C 1: 72,650,496 (GRCm39) S544P probably damaging Het
St6galnac3 A T 3: 153,117,166 (GRCm39) Y186N probably damaging Het
Tbc1d1 T C 5: 64,420,900 (GRCm39) F346S probably damaging Het
Tdrd5 A T 1: 156,129,945 (GRCm39) I75K probably benign Het
Tnrc6a T C 7: 122,791,313 (GRCm39) M1737T possibly damaging Het
Toe1 A T 4: 116,662,397 (GRCm39) Y283N probably damaging Het
Tubal3 G T 13: 3,978,185 (GRCm39) G34C probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn1r212 T C 13: 23,068,078 (GRCm39) Y85C probably damaging Het
Yju2b A T 8: 84,985,439 (GRCm39) C277S probably benign Het
Zdhhc4 A G 5: 143,307,536 (GRCm39) S162P probably damaging Het
Zfp712 A G 13: 67,190,177 (GRCm39) S117P probably benign Het
Zic4 G T 9: 91,261,257 (GRCm39) G164C probably damaging Het
Other mutations in Dpy19l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Dpy19l4 APN 4 11,290,411 (GRCm39) missense probably benign 0.00
IGL01402:Dpy19l4 APN 4 11,273,006 (GRCm39) critical splice donor site probably null
IGL01404:Dpy19l4 APN 4 11,273,006 (GRCm39) critical splice donor site probably null
IGL01643:Dpy19l4 APN 4 11,290,184 (GRCm39) splice site probably benign
IGL01758:Dpy19l4 APN 4 11,265,846 (GRCm39) missense probably damaging 1.00
IGL01896:Dpy19l4 APN 4 11,267,752 (GRCm39) missense possibly damaging 0.81
IGL02222:Dpy19l4 APN 4 11,281,116 (GRCm39) missense possibly damaging 0.93
IGL02314:Dpy19l4 APN 4 11,267,720 (GRCm39) missense possibly damaging 0.50
IGL02422:Dpy19l4 APN 4 11,265,803 (GRCm39) missense possibly damaging 0.95
IGL02565:Dpy19l4 APN 4 11,309,440 (GRCm39) missense probably benign 0.14
IGL03121:Dpy19l4 APN 4 11,303,334 (GRCm39) missense probably damaging 1.00
IGL03357:Dpy19l4 APN 4 11,267,615 (GRCm39) missense probably damaging 1.00
IGL03368:Dpy19l4 APN 4 11,290,253 (GRCm39) missense possibly damaging 0.53
R0003:Dpy19l4 UTSW 4 11,267,619 (GRCm39) missense probably damaging 1.00
R0481:Dpy19l4 UTSW 4 11,272,993 (GRCm39) splice site probably benign
R0506:Dpy19l4 UTSW 4 11,289,715 (GRCm39) missense probably benign 0.07
R1114:Dpy19l4 UTSW 4 11,287,643 (GRCm39) splice site probably benign
R1332:Dpy19l4 UTSW 4 11,276,901 (GRCm39) missense probably damaging 1.00
R1336:Dpy19l4 UTSW 4 11,276,901 (GRCm39) missense probably damaging 1.00
R1355:Dpy19l4 UTSW 4 11,303,371 (GRCm39) nonsense probably null
R1421:Dpy19l4 UTSW 4 11,304,011 (GRCm39) missense probably benign 0.09
R1422:Dpy19l4 UTSW 4 11,317,168 (GRCm39) missense possibly damaging 0.88
R1465:Dpy19l4 UTSW 4 11,296,034 (GRCm39) missense probably damaging 1.00
R1465:Dpy19l4 UTSW 4 11,296,034 (GRCm39) missense probably damaging 1.00
R1766:Dpy19l4 UTSW 4 11,303,360 (GRCm39) missense probably damaging 1.00
R1803:Dpy19l4 UTSW 4 11,281,020 (GRCm39) missense possibly damaging 0.81
R2090:Dpy19l4 UTSW 4 11,304,344 (GRCm39) missense probably benign 0.34
R2324:Dpy19l4 UTSW 4 11,276,857 (GRCm39) unclassified probably benign
R2446:Dpy19l4 UTSW 4 11,304,143 (GRCm39) splice site probably null
R3769:Dpy19l4 UTSW 4 11,276,868 (GRCm39) splice site probably null
R4151:Dpy19l4 UTSW 4 11,309,485 (GRCm39) missense possibly damaging 0.89
R4472:Dpy19l4 UTSW 4 11,304,053 (GRCm39) missense possibly damaging 0.91
R4609:Dpy19l4 UTSW 4 11,295,999 (GRCm39) nonsense probably null
R4708:Dpy19l4 UTSW 4 11,277,970 (GRCm39) missense probably benign 0.00
R4997:Dpy19l4 UTSW 4 11,287,493 (GRCm39) missense probably benign 0.01
R5085:Dpy19l4 UTSW 4 11,265,943 (GRCm39) critical splice acceptor site probably null
R5088:Dpy19l4 UTSW 4 11,303,357 (GRCm39) missense probably damaging 1.00
R5288:Dpy19l4 UTSW 4 11,304,014 (GRCm39) missense probably damaging 1.00
R5288:Dpy19l4 UTSW 4 11,289,721 (GRCm39) missense probably damaging 1.00
R5413:Dpy19l4 UTSW 4 11,289,700 (GRCm39) missense probably damaging 1.00
R5758:Dpy19l4 UTSW 4 11,276,886 (GRCm39) missense probably damaging 1.00
R6024:Dpy19l4 UTSW 4 11,276,876 (GRCm39) missense probably damaging 1.00
R6312:Dpy19l4 UTSW 4 11,289,671 (GRCm39) nonsense probably null
R6339:Dpy19l4 UTSW 4 11,285,111 (GRCm39) missense probably damaging 0.98
R7055:Dpy19l4 UTSW 4 11,290,291 (GRCm39) critical splice acceptor site probably null
R7359:Dpy19l4 UTSW 4 11,273,125 (GRCm39) missense probably benign 0.00
R7525:Dpy19l4 UTSW 4 11,317,160 (GRCm39) nonsense probably null
R7579:Dpy19l4 UTSW 4 11,265,909 (GRCm39) missense probably benign 0.39
R7913:Dpy19l4 UTSW 4 11,265,859 (GRCm39) nonsense probably null
R8047:Dpy19l4 UTSW 4 11,317,139 (GRCm39) missense probably benign 0.00
R8049:Dpy19l4 UTSW 4 11,303,982 (GRCm39) missense probably benign 0.44
R8495:Dpy19l4 UTSW 4 11,267,659 (GRCm39) missense probably benign
R8911:Dpy19l4 UTSW 4 11,317,078 (GRCm39) missense possibly damaging 0.82
R8928:Dpy19l4 UTSW 4 11,304,674 (GRCm39) intron probably benign
R8955:Dpy19l4 UTSW 4 11,290,195 (GRCm39) missense probably benign 0.00
R9332:Dpy19l4 UTSW 4 11,304,298 (GRCm39) critical splice donor site probably null
R9372:Dpy19l4 UTSW 4 11,303,343 (GRCm39) missense possibly damaging 0.91
R9401:Dpy19l4 UTSW 4 11,265,806 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- CCGGCAGGGTACATAACAAG -3'
(R):5'- AACTTTTCTGTAGGGCACTAAGAGG -3'

Sequencing Primer
(F):5'- TTTTTCCCATTCAGCTACAAAGG -3'
(R):5'- AGAGGCAAATGTAGAATCCCTTAC -3'
Posted On 2016-07-20