Incidental Mutation 'R6434:Zfp719'
ID 518695
Institutional Source Beutler Lab
Gene Symbol Zfp719
Ensembl Gene ENSMUSG00000030469
Gene Name zinc finger protein 719
Synonyms C630016O21Rik, mszf6, 9430094P17Rik
MMRRC Submission 044572-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6434 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43229034-43242659 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43240412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 667 (H667N)
Ref Sequence ENSEMBL: ENSMUSP00000050968 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058104] [ENSMUST00000205769]
AlphaFold Q8BIV1
Predicted Effect probably damaging
Transcript: ENSMUST00000058104
AA Change: H667N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000050968
Gene: ENSMUSG00000030469
AA Change: H667N

DomainStartEndE-ValueType
KRAB 49 109 1.18e-20 SMART
ZnF_C2H2 285 305 4.16e1 SMART
ZnF_C2H2 341 363 1.2e-3 SMART
ZnF_C2H2 369 391 9.08e-4 SMART
ZnF_C2H2 397 419 6.67e-2 SMART
ZnF_C2H2 425 447 7.9e-4 SMART
ZnF_C2H2 453 475 3.34e-2 SMART
ZnF_C2H2 481 503 1.38e-3 SMART
ZnF_C2H2 509 531 5.42e-2 SMART
ZnF_C2H2 537 559 3.78e-1 SMART
ZnF_C2H2 565 587 2.43e-4 SMART
ZnF_C2H2 593 615 4.54e-4 SMART
ZnF_C2H2 621 643 4.24e-4 SMART
ZnF_C2H2 649 671 6.42e-4 SMART
ZnF_C2H2 677 699 1.47e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205769
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 98% (57/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alcam A C 16: 52,109,190 (GRCm39) probably null Het
Ankle2 A G 5: 110,401,759 (GRCm39) Y807C probably damaging Het
Arhgef26 A C 3: 62,336,335 (GRCm39) M625L probably damaging Het
Aspdh G A 7: 44,116,474 (GRCm39) A86T probably damaging Het
Atl1 G T 12: 70,006,199 (GRCm39) E502* probably null Het
Atp6v1c1 T C 15: 38,677,790 (GRCm39) F105S probably damaging Het
Auh C A 13: 53,083,446 (GRCm39) G17C probably benign Het
Ccdc81 T C 7: 89,525,352 (GRCm39) Y474C probably damaging Het
Ccdc82 T C 9: 13,251,659 (GRCm39) probably benign Het
Ccdc96 T G 5: 36,643,707 (GRCm39) V571G probably damaging Het
Col6a5 C A 9: 105,814,544 (GRCm39) E489D unknown Het
Dchs2 T A 3: 83,176,577 (GRCm39) I845N probably damaging Het
Dnajc11 T C 4: 152,063,751 (GRCm39) V449A probably damaging Het
Ect2 A T 3: 27,193,268 (GRCm39) Y269* probably null Het
Egfr T C 11: 16,819,294 (GRCm39) Y275H probably benign Het
Fan1 T A 7: 64,004,129 (GRCm39) D779V probably damaging Het
Fancm T C 12: 65,123,942 (GRCm39) V200A probably damaging Het
Frem1 A G 4: 82,884,253 (GRCm39) I1214T probably benign Het
Gm3415 T A 5: 146,494,752 (GRCm39) F138L probably benign Het
Gtse1 C A 15: 85,759,370 (GRCm39) T626K probably benign Het
Herc1 T A 9: 66,393,464 (GRCm39) H4114Q probably damaging Het
Ifi44 T A 3: 151,454,826 (GRCm39) N133I probably benign Het
Ilf3 A G 9: 21,314,447 (GRCm39) probably benign Het
Inpp4a A G 1: 37,437,919 (GRCm39) T593A probably damaging Het
Iqgap2 A T 13: 95,819,441 (GRCm39) W634R possibly damaging Het
Kcnh4 T A 11: 100,641,105 (GRCm39) N448I probably damaging Het
Klhl33 G A 14: 51,130,564 (GRCm39) A310V probably damaging Het
Klra9 G T 6: 130,155,995 (GRCm39) Y253* probably null Het
Lrig2 T C 3: 104,398,863 (GRCm39) K222E possibly damaging Het
Manba G A 3: 135,217,734 (GRCm39) probably null Het
Mga A T 2: 119,754,419 (GRCm39) Q976L probably damaging Het
Mtmr4 A G 11: 87,504,309 (GRCm39) D1086G probably damaging Het
Muc20 A G 16: 32,615,176 (GRCm39) V67A probably benign Het
Myh3 T A 11: 66,973,193 (GRCm39) L97Q probably damaging Het
Nars1 T C 18: 64,640,872 (GRCm39) T195A probably benign Het
Npat A T 9: 53,474,739 (GRCm39) I844L possibly damaging Het
Nrxn3 T C 12: 88,762,285 (GRCm39) F111L probably benign Het
Obp2b T C 2: 25,628,599 (GRCm39) Y118H probably damaging Het
Or5w1 T A 2: 87,486,558 (GRCm39) K236* probably null Het
Or7e170 A T 9: 19,795,141 (GRCm39) Y153* probably null Het
Patj A G 4: 98,379,866 (GRCm39) D215G probably damaging Het
Pex1 T A 5: 3,680,196 (GRCm39) Y979* probably null Het
Septin3 G A 15: 82,163,804 (GRCm39) V54I possibly damaging Het
Shc3 A G 13: 51,603,326 (GRCm39) Y260H probably damaging Het
Simc1 A G 13: 54,674,477 (GRCm39) T942A probably benign Het
Slco1c1 T C 6: 141,493,576 (GRCm39) S371P probably damaging Het
Snrnp200 T A 2: 127,080,574 (GRCm39) I2029N probably damaging Het
Syne1 A G 10: 5,268,422 (GRCm39) V2089A probably benign Het
Syne2 T C 12: 76,088,230 (GRCm39) S5016P probably damaging Het
Tril G C 6: 53,795,493 (GRCm39) D576E probably damaging Het
Tubb2b C T 13: 34,311,561 (GRCm39) A411T probably damaging Het
Ubr4 T C 4: 139,156,949 (GRCm39) Y2325H probably damaging Het
Utp20 A T 10: 88,608,395 (GRCm39) C1547* probably null Het
Utrn A T 10: 12,401,171 (GRCm39) W98R probably damaging Het
Vps35 C T 8: 86,000,124 (GRCm39) D501N possibly damaging Het
Wdr48 T C 9: 119,745,879 (GRCm39) S421P possibly damaging Het
Yju2b A G 8: 84,989,630 (GRCm39) I63T probably damaging Het
Other mutations in Zfp719
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Zfp719 APN 7 43,240,554 (GRCm39) missense probably damaging 1.00
IGL01407:Zfp719 APN 7 43,233,611 (GRCm39) missense probably benign 0.00
IGL01763:Zfp719 APN 7 43,233,613 (GRCm39) missense probably benign 0.00
IGL03079:Zfp719 APN 7 43,240,590 (GRCm39) missense probably damaging 1.00
R0522:Zfp719 UTSW 7 43,238,677 (GRCm39) critical splice acceptor site probably null
R0524:Zfp719 UTSW 7 43,238,677 (GRCm39) critical splice acceptor site probably null
R0542:Zfp719 UTSW 7 43,238,677 (GRCm39) critical splice acceptor site probably null
R0543:Zfp719 UTSW 7 43,238,677 (GRCm39) critical splice acceptor site probably null
R0662:Zfp719 UTSW 7 43,233,678 (GRCm39) missense possibly damaging 0.56
R1390:Zfp719 UTSW 7 43,239,867 (GRCm39) missense possibly damaging 0.69
R2959:Zfp719 UTSW 7 43,239,851 (GRCm39) missense possibly damaging 0.89
R4708:Zfp719 UTSW 7 43,239,656 (GRCm39) missense probably damaging 1.00
R4709:Zfp719 UTSW 7 43,239,656 (GRCm39) missense probably damaging 1.00
R4710:Zfp719 UTSW 7 43,239,656 (GRCm39) missense probably damaging 1.00
R4716:Zfp719 UTSW 7 43,240,535 (GRCm39) missense possibly damaging 0.80
R4729:Zfp719 UTSW 7 43,239,834 (GRCm39) missense probably damaging 1.00
R4755:Zfp719 UTSW 7 43,240,217 (GRCm39) missense probably damaging 1.00
R5176:Zfp719 UTSW 7 43,240,549 (GRCm39) missense probably damaging 1.00
R5949:Zfp719 UTSW 7 43,233,541 (GRCm39) intron probably benign
R6063:Zfp719 UTSW 7 43,239,050 (GRCm39) nonsense probably null
R6363:Zfp719 UTSW 7 43,239,290 (GRCm39) missense probably benign 0.03
R6465:Zfp719 UTSW 7 43,240,108 (GRCm39) nonsense probably null
R6806:Zfp719 UTSW 7 43,235,809 (GRCm39) missense possibly damaging 0.63
R6925:Zfp719 UTSW 7 43,240,130 (GRCm39) missense probably damaging 1.00
R8124:Zfp719 UTSW 7 43,239,314 (GRCm39) missense probably benign
R9018:Zfp719 UTSW 7 43,233,489 (GRCm39) intron probably benign
R9043:Zfp719 UTSW 7 43,239,605 (GRCm39) missense possibly damaging 0.69
R9484:Zfp719 UTSW 7 43,239,581 (GRCm39) missense possibly damaging 0.70
R9556:Zfp719 UTSW 7 43,239,072 (GRCm39) missense probably damaging 0.99
R9647:Zfp719 UTSW 7 43,233,602 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- GACTGTGGAATGGCCTTCAG -3'
(R):5'- CATGGATGTCACTTGTGAATTCTG -3'

Sequencing Primer
(F):5'- ACTGTCGATTTCACACAGGG -3'
(R):5'- CTTGTGAATTCTGCAGGAAACCC -3'
Posted On 2018-05-24