Incidental Mutation 'R1219:Zfp839'
ID 99943
Institutional Source Beutler Lab
Gene Symbol Zfp839
Ensembl Gene ENSMUSG00000021271
Gene Name zinc finger protein 839
Synonyms 2810455K09Rik
MMRRC Submission 039288-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R1219 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 110816687-110836430 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110834707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 654 (D654G)
Ref Sequence ENSEMBL: ENSMUSP00000131841 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043716] [ENSMUST00000170060] [ENSMUST00000220607] [ENSMUST00000222460]
AlphaFold E9PUU5
Predicted Effect probably benign
Transcript: ENSMUST00000043716
SMART Domains Protein: ENSMUSP00000035245
Gene: ENSMUSG00000021276

DomainStartEndE-ValueType
low complexity region 54 78 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000170060
AA Change: D654G

PolyPhen 2 Score 0.629 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: D654G

DomainStartEndE-ValueType
low complexity region 271 278 N/A INTRINSIC
ZnF_C2H2 295 320 3.02e0 SMART
low complexity region 377 388 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220607
Predicted Effect probably benign
Transcript: ENSMUST00000222460
AA Change: D578G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 98% (44/45)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 A G 15: 57,998,307 (GRCm39) S22P probably benign Het
Atrn A T 2: 130,862,927 (GRCm39) T1336S possibly damaging Het
Bltp1 T A 3: 37,000,619 (GRCm39) L1266* probably null Het
Car9 G T 4: 43,512,439 (GRCm39) probably null Het
Ccdc113 T C 8: 96,264,895 (GRCm39) probably benign Het
Ccdc158 A G 5: 92,802,040 (GRCm39) probably benign Het
Ciao3 T C 17: 25,994,075 (GRCm39) I41T probably damaging Het
Dcun1d3 G T 7: 119,458,631 (GRCm39) Q135K probably damaging Het
Dnah7b A C 1: 46,379,280 (GRCm39) E3671D probably benign Het
Eea1 A G 10: 95,846,623 (GRCm39) probably benign Het
Entrep3 T C 3: 89,091,155 (GRCm39) V42A probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm5111 A G 6: 48,567,328 (GRCm39) probably benign Het
Golga3 G T 5: 110,332,215 (GRCm39) E50* probably null Het
Junb T C 8: 85,704,268 (GRCm39) E264G probably damaging Het
Kash5 A G 7: 44,838,832 (GRCm39) probably benign Het
Kifc1 G A 17: 34,103,685 (GRCm39) R195C probably benign Het
Krt18 T C 15: 101,939,723 (GRCm39) probably benign Het
Man1a G A 10: 53,795,249 (GRCm39) probably benign Het
Mapkbp1 G T 2: 119,849,831 (GRCm39) G768* probably null Het
Mybpc2 A C 7: 44,165,458 (GRCm39) probably null Het
Nectin3 A T 16: 46,275,042 (GRCm39) C238* probably null Het
Ntf3 G T 6: 126,079,174 (GRCm39) R98S possibly damaging Het
Nup153 T G 13: 46,840,695 (GRCm39) Q971P probably benign Het
Nup155 A G 15: 8,146,822 (GRCm39) T221A possibly damaging Het
Ppp2r1b T C 9: 50,778,621 (GRCm39) probably benign Het
Prkd1 A T 12: 50,435,125 (GRCm39) V534E probably damaging Het
Rabep2 A G 7: 126,028,799 (GRCm39) E26G probably damaging Het
Rnf213 C A 11: 119,327,003 (GRCm39) N1663K probably damaging Het
Slc1a1 G A 19: 28,882,146 (GRCm39) probably benign Het
Slc36a4 T C 9: 15,634,832 (GRCm39) Y125H probably damaging Het
Slc6a11 G A 6: 114,202,772 (GRCm39) probably benign Het
Stab1 C T 14: 30,862,578 (GRCm39) probably null Het
Sumf2 G T 5: 129,883,613 (GRCm39) A164S probably benign Het
Sv2b T C 7: 74,786,160 (GRCm39) D420G probably benign Het
Ube2v1 T C 2: 167,459,831 (GRCm39) D56G probably benign Het
Ung A G 5: 114,270,228 (GRCm39) probably benign Het
Vcan T C 13: 89,828,023 (GRCm39) Y2181C probably damaging Het
Vmn1r238 G A 18: 3,123,135 (GRCm39) T93I possibly damaging Het
Vmn2r14 A C 5: 109,372,440 (GRCm39) S17A probably benign Het
Vmn2r25 A G 6: 123,816,282 (GRCm39) V433A probably benign Het
Zfp36l2 A G 17: 84,495,070 (GRCm39) probably null Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Other mutations in Zfp839
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Zfp839 APN 12 110,831,441 (GRCm39) critical splice donor site probably null
IGL00941:Zfp839 APN 12 110,827,382 (GRCm39) missense probably damaging 1.00
R0013:Zfp839 UTSW 12 110,834,820 (GRCm39) missense possibly damaging 0.66
R0013:Zfp839 UTSW 12 110,834,820 (GRCm39) missense possibly damaging 0.66
R0109:Zfp839 UTSW 12 110,827,308 (GRCm39) missense possibly damaging 0.92
R0116:Zfp839 UTSW 12 110,825,203 (GRCm39) intron probably benign
R1406:Zfp839 UTSW 12 110,832,744 (GRCm39) missense probably damaging 0.99
R1406:Zfp839 UTSW 12 110,832,744 (GRCm39) missense probably damaging 0.99
R1434:Zfp839 UTSW 12 110,827,333 (GRCm39) missense probably benign 0.08
R1653:Zfp839 UTSW 12 110,821,684 (GRCm39) missense probably benign 0.02
R1754:Zfp839 UTSW 12 110,821,891 (GRCm39) missense probably damaging 0.98
R2182:Zfp839 UTSW 12 110,834,772 (GRCm39) missense probably damaging 1.00
R3765:Zfp839 UTSW 12 110,821,597 (GRCm39) missense probably benign 0.22
R3981:Zfp839 UTSW 12 110,832,765 (GRCm39) missense probably damaging 0.97
R4756:Zfp839 UTSW 12 110,821,635 (GRCm39) missense possibly damaging 0.92
R5088:Zfp839 UTSW 12 110,834,610 (GRCm39) missense probably damaging 0.99
R5394:Zfp839 UTSW 12 110,822,020 (GRCm39) missense probably benign 0.05
R5619:Zfp839 UTSW 12 110,830,470 (GRCm39) missense probably damaging 1.00
R6856:Zfp839 UTSW 12 110,833,195 (GRCm39) nonsense probably null
R7661:Zfp839 UTSW 12 110,835,226 (GRCm39) missense probably benign 0.32
R7860:Zfp839 UTSW 12 110,822,060 (GRCm39) missense probably damaging 1.00
R8022:Zfp839 UTSW 12 110,821,532 (GRCm39) missense probably damaging 1.00
R8855:Zfp839 UTSW 12 110,834,848 (GRCm39) missense probably benign 0.06
R8866:Zfp839 UTSW 12 110,834,848 (GRCm39) missense probably benign 0.06
R8896:Zfp839 UTSW 12 110,835,277 (GRCm39) missense probably damaging 1.00
R9289:Zfp839 UTSW 12 110,834,878 (GRCm39) missense probably benign 0.04
R9606:Zfp839 UTSW 12 110,834,776 (GRCm39) missense probably benign
R9668:Zfp839 UTSW 12 110,822,280 (GRCm39) missense probably damaging 0.98
R9686:Zfp839 UTSW 12 110,821,932 (GRCm39) missense probably damaging 1.00
Z1177:Zfp839 UTSW 12 110,833,218 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- TGCCCTGCTAAACTCTCTTGGAATG -3'
(R):5'- ACGGCCCCAGAATCCTGATACATAG -3'

Sequencing Primer
(F):5'- GGAAGCCCATTTTGAACAGC -3'
(R):5'- CCAGAATCCTGATACATAGTGTGTTC -3'
Posted On 2014-01-15