Incidental Mutation 'R7719:Zfp90'
ID 595122
Institutional Source Beutler Lab
Gene Symbol Zfp90
Ensembl Gene ENSMUSG00000031907
Gene Name zinc finger protein 90
Synonyms Nk10 expressed protein, NK10, 6430515L01Rik, Zfp64, KRAB17, Zfp83
MMRRC Submission 045776-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.188) question?
Stock # R7719 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 107141959-107153230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107145725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 19 (V19A)
Ref Sequence ENSEMBL: ENSMUSP00000034382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034382] [ENSMUST00000212606] [ENSMUST00000212874] [ENSMUST00000213045]
AlphaFold Q61967
Predicted Effect probably damaging
Transcript: ENSMUST00000034382
AA Change: V19A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034382
Gene: ENSMUSG00000031907
AA Change: V19A

DomainStartEndE-ValueType
KRAB 14 74 4.83e-40 SMART
ZnF_C2H2 208 230 1.38e-3 SMART
ZnF_C2H2 250 272 2.75e-3 SMART
ZnF_C2H2 278 300 3.83e-2 SMART
ZnF_C2H2 306 328 1.13e-4 SMART
ZnF_C2H2 334 356 2.09e-3 SMART
ZnF_C2H2 362 384 3.16e-3 SMART
ZnF_C2H2 390 412 1.6e-4 SMART
ZnF_C2H2 446 468 1.92e-2 SMART
ZnF_C2H2 494 516 3.69e-4 SMART
ZnF_C2H2 522 544 5.59e-4 SMART
ZnF_C2H2 550 572 1.28e-3 SMART
ZnF_C2H2 578 600 1.28e-3 SMART
ZnF_C2H2 606 628 2.4e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000212606
AA Change: V19A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000212874
AA Change: V19A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000213045
AA Change: V19A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc finger protein family that modulates gene expression. The encoded protein derepresses the transcription of certain fetal cardiac genes and may contribute to the genetic reprogramming that occurs during the development of heart failure. Genome wide association studies have identified this gene among ulcerative colitis risk loci. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2015]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 T A 1: 155,562,758 (GRCm39) L253H probably damaging Het
Adam11 T C 11: 102,663,303 (GRCm39) V238A probably benign Het
Amer3 A T 1: 34,628,083 (GRCm39) H774L possibly damaging Het
Anapc15 T C 7: 101,550,236 (GRCm39) L150P unknown Het
Ano8 G T 8: 71,935,784 (GRCm39) T278K possibly damaging Het
Atg16l2 T C 7: 100,939,074 (GRCm39) K618E probably damaging Het
Casz1 C T 4: 149,028,981 (GRCm39) S1142L probably damaging Het
Ccdc30 T A 4: 119,190,813 (GRCm39) E471D probably damaging Het
Cks1b T C 3: 89,323,635 (GRCm39) N45D probably benign Het
Clasrp T C 7: 19,321,769 (GRCm39) T296A probably damaging Het
Cluap1 C T 16: 3,727,467 (GRCm39) probably null Het
Cntn5 T A 9: 9,704,903 (GRCm39) D632V probably damaging Het
Cntnap3 G A 13: 64,920,591 (GRCm39) Q593* probably null Het
Col18a1 A T 10: 76,913,846 (GRCm39) I457K probably benign Het
Crybb3 G T 5: 113,223,834 (GRCm39) Q192K probably damaging Het
Cyb561d2 C T 9: 107,417,383 (GRCm39) A123T probably benign Het
Cyp2b13 C T 7: 25,795,095 (GRCm39) A442V probably damaging Het
Cyp2j9 G A 4: 96,457,079 (GRCm39) T464I probably benign Het
Cyp4a29 G A 4: 115,108,137 (GRCm39) G320R possibly damaging Het
Dbp T C 7: 45,359,174 (GRCm39) I283T probably damaging Het
Efcab3 T C 11: 105,002,674 (GRCm39) I303T probably benign Het
Efcab8 T A 2: 153,629,665 (GRCm39) V166D Het
Efhc1 A T 1: 21,049,744 (GRCm39) I535F probably benign Het
Epb41l3 A G 17: 69,560,409 (GRCm39) I319V possibly damaging Het
Ewsr1 T C 11: 5,035,900 (GRCm39) T193A unknown Het
Fam227a T C 15: 79,504,913 (GRCm39) N510S possibly damaging Het
Frmpd1 T C 4: 45,284,841 (GRCm39) C1221R possibly damaging Het
Gm6741 A C 17: 91,544,472 (GRCm39) E78D probably benign Het
Gpam C T 19: 55,070,102 (GRCm39) V385I probably damaging Het
Gpr55 A G 1: 85,869,059 (GRCm39) V174A probably benign Het
Gsdmc T C 15: 63,650,813 (GRCm39) probably null Het
Hmcn1 T A 1: 150,441,080 (GRCm39) D5509V possibly damaging Het
Hoxc13 A T 15: 102,830,293 (GRCm39) Q224L possibly damaging Het
Hunk A G 16: 90,293,554 (GRCm39) D612G probably benign Het
Igsf3 G A 3: 101,342,857 (GRCm39) R478H probably damaging Het
Itgb5 A G 16: 33,740,486 (GRCm39) Q532R probably benign Het
Jph1 T C 1: 17,162,215 (GRCm39) Y149C probably damaging Het
Lztfl1 T C 9: 123,544,395 (GRCm39) D33G probably null Het
Mex3c G T 18: 73,723,061 (GRCm39) A385S possibly damaging Het
Myo5a T A 9: 75,051,366 (GRCm39) S320T probably benign Het
Nsun4 A T 4: 115,909,617 (GRCm39) N314K possibly damaging Het
Omg T A 11: 79,393,059 (GRCm39) E266D probably benign Het
Or4b12 A T 2: 90,096,603 (GRCm39) M57K probably damaging Het
Paqr9 T A 9: 95,442,829 (GRCm39) V273E possibly damaging Het
Phkg1 G A 5: 129,902,699 (GRCm39) probably benign Het
Plekhm3 T C 1: 64,960,901 (GRCm39) K452E probably benign Het
Plpbp T A 8: 27,535,974 (GRCm39) I86N Het
Prl2c1 G T 13: 28,035,780 (GRCm39) A51S probably damaging Het
Prmt8 A T 6: 127,706,466 (GRCm39) H108Q probably damaging Het
Prrc2b T A 2: 32,107,280 (GRCm39) C1614* probably null Het
Ptpdc1 A G 13: 48,739,766 (GRCm39) V555A probably benign Het
Rassf9 A G 10: 102,381,461 (GRCm39) D281G probably benign Het
Resf1 T C 6: 149,228,853 (GRCm39) I633T probably benign Het
Rmnd1 T C 10: 4,377,496 (GRCm39) D61G probably benign Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Ryr2 A G 13: 11,745,229 (GRCm39) S2055P possibly damaging Het
Six5 G A 7: 18,830,803 (GRCm39) A477T probably damaging Het
Speg A G 1: 75,352,469 (GRCm39) E129G probably damaging Het
Stard10 C T 7: 100,995,320 (GRCm39) A78V not run Het
Stard3 T C 11: 98,266,502 (GRCm39) V127A probably benign Het
Svep1 G A 4: 58,068,523 (GRCm39) P3088S probably damaging Het
Tbck A G 3: 132,440,489 (GRCm39) D508G probably damaging Het
Tgm2 T A 2: 157,985,038 (GRCm39) T23S probably damaging Het
Ttll10 G T 4: 156,131,665 (GRCm39) probably null Het
Vcan A T 13: 89,852,738 (GRCm39) S741T probably damaging Het
Vmn2r13 T C 5: 109,319,618 (GRCm39) N454S probably benign Het
Vmn2r45 T A 7: 8,486,460 (GRCm39) E276V probably damaging Het
Wnt8a T C 18: 34,680,588 (GRCm39) W318R probably damaging Het
Zer1 A T 2: 30,001,243 (GRCm39) L87H probably damaging Het
Zfp518a T A 19: 40,901,212 (GRCm39) N380K probably benign Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Other mutations in Zfp90
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01753:Zfp90 APN 8 107,150,782 (GRCm39) missense probably benign 0.00
IGL02170:Zfp90 APN 8 107,146,156 (GRCm39) missense probably damaging 0.99
IGL02818:Zfp90 APN 8 107,150,841 (GRCm39) missense probably benign
R0378:Zfp90 UTSW 8 107,152,138 (GRCm39) missense possibly damaging 0.69
R0462:Zfp90 UTSW 8 107,151,892 (GRCm39) missense possibly damaging 0.89
R1555:Zfp90 UTSW 8 107,150,727 (GRCm39) missense probably benign
R1869:Zfp90 UTSW 8 107,145,755 (GRCm39) missense probably benign 0.00
R1870:Zfp90 UTSW 8 107,145,755 (GRCm39) missense probably benign 0.00
R2110:Zfp90 UTSW 8 107,152,120 (GRCm39) missense probably damaging 1.00
R2112:Zfp90 UTSW 8 107,152,120 (GRCm39) missense probably damaging 1.00
R3717:Zfp90 UTSW 8 107,150,682 (GRCm39) missense probably benign 0.12
R4506:Zfp90 UTSW 8 107,151,496 (GRCm39) missense possibly damaging 0.78
R5288:Zfp90 UTSW 8 107,152,000 (GRCm39) missense probably damaging 1.00
R5691:Zfp90 UTSW 8 107,151,710 (GRCm39) nonsense probably null
R5789:Zfp90 UTSW 8 107,150,605 (GRCm39) missense probably benign
R6283:Zfp90 UTSW 8 107,152,026 (GRCm39) missense probably damaging 1.00
R6560:Zfp90 UTSW 8 107,142,379 (GRCm39) missense probably damaging 0.99
R6977:Zfp90 UTSW 8 107,151,949 (GRCm39) missense probably damaging 0.99
R6977:Zfp90 UTSW 8 107,151,948 (GRCm39) missense probably damaging 1.00
R7040:Zfp90 UTSW 8 107,151,641 (GRCm39) nonsense probably null
R7196:Zfp90 UTSW 8 107,151,780 (GRCm39) missense probably damaging 0.99
R7523:Zfp90 UTSW 8 107,150,545 (GRCm39) missense probably benign 0.07
R7535:Zfp90 UTSW 8 107,150,900 (GRCm39) missense possibly damaging 0.94
R7546:Zfp90 UTSW 8 107,151,323 (GRCm39) missense probably benign 0.22
R8036:Zfp90 UTSW 8 107,145,760 (GRCm39) missense probably benign 0.21
R8056:Zfp90 UTSW 8 107,151,112 (GRCm39) missense probably damaging 1.00
R9370:Zfp90 UTSW 8 107,145,791 (GRCm39) missense probably damaging 1.00
R9581:Zfp90 UTSW 8 107,151,714 (GRCm39) missense probably benign 0.07
Predicted Primers PCR Primer
(F):5'- AAACTCGGTGCTTGAAATTAGC -3'
(R):5'- CTCAAAGCCCAGGAAAGCTG -3'

Sequencing Primer
(F):5'- TTAGCATACAAAACCAAACCTTGC -3'
(R):5'- GGCCCCAACCAAGCTTTG -3'
Posted On 2019-11-12