Incidental Mutation 'IGL00159:Zhx2'
ID 922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zhx2
Ensembl Gene ENSMUSG00000071757
Gene Name zinc fingers and homeoboxes 2
Synonyms Afr-1, Raf, Afr1
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # IGL00159
Quality Score
Status
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57686266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 545 (E545V)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably damaging
Transcript: ENSMUST00000096430
AA Change: E545V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: E545V

DomainStartEndE-ValueType
ZnF_C2H2 78 101 1.79e-2 SMART
ZnF_C2H2 110 133 1.99e0 SMART
low complexity region 191 209 N/A INTRINSIC
HOX 263 324 2.11e-3 SMART
HOX 439 501 4.94e-8 SMART
HOX 530 591 2.8e-7 SMART
HOX 628 690 3.09e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160990
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The members of the zinc fingers and homeoboxes gene family are nuclear homodimeric transcriptional repressors that interact with the A subunit of nuclear factor-Y (NF-YA) and contain two C2H2-type zinc fingers and five homeobox DNA-binding domains. This gene encodes member 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Alpha-fetoprotein levels in plasma decline precipitously after birth. This gene regulates a difference in adult level and rate of neonatal decrease of AFP. The BALB/cJ substrain carries a genetic variant allele determining a slow rate of decline to adultlevel. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Axin1 A T 17: 26,361,779 (GRCm39) D41V possibly damaging Het
BC034090 C A 1: 155,101,197 (GRCm39) E718* probably null Het
Cdc123 G T 2: 5,809,746 (GRCm39) Q222K probably benign Het
Clip1 A C 5: 123,741,717 (GRCm39) V1053G possibly damaging Het
Dock7 T A 4: 98,952,222 (GRCm39) E416V probably damaging Het
Dydc1 T C 14: 40,809,370 (GRCm39) L143P probably damaging Het
Dync2h1 A G 9: 7,158,839 (GRCm39) V732A probably benign Het
Dzip1l T A 9: 99,519,830 (GRCm39) L119Q probably damaging Het
Erp27 T A 6: 136,886,500 (GRCm39) S178C probably damaging Het
Fbn1 A G 2: 125,239,793 (GRCm39) V298A probably benign Het
Fbxo34 A G 14: 47,766,931 (GRCm39) H97R probably damaging Het
Gm20521 C T 14: 55,122,079 (GRCm39) Q81* probably null Het
Gspt1 T C 16: 11,040,476 (GRCm39) M610V probably damaging Het
Herc1 A G 9: 66,344,964 (GRCm39) Q1919R possibly damaging Het
Il19 A G 1: 130,862,792 (GRCm39) probably benign Het
Kif14 G A 1: 136,396,756 (GRCm39) S354N probably benign Het
Lrrk2 A G 15: 91,632,002 (GRCm39) K1309E possibly damaging Het
Lurap1 T C 4: 115,994,887 (GRCm39) T115A probably damaging Het
Myo18b G T 5: 113,021,997 (GRCm39) T465K probably benign Het
Nwd1 A T 8: 73,397,705 (GRCm39) D648V probably damaging Het
Or13c25 T G 4: 52,911,618 (GRCm39) M59L possibly damaging Het
Or2at4 G A 7: 99,384,524 (GRCm39) R58H probably benign Het
Otof T C 5: 30,533,248 (GRCm39) Y1527C probably damaging Het
Otop3 G A 11: 115,235,223 (GRCm39) C285Y probably damaging Het
Parp3 A G 9: 106,348,586 (GRCm39) I478T probably benign Het
Pdzd2 C T 15: 12,458,069 (GRCm39) E265K possibly damaging Het
Pik3c2g T C 6: 139,841,851 (GRCm39) L634P probably damaging Het
Prkg1 C A 19: 31,279,740 (GRCm39) V165L probably benign Het
Riok3 A G 18: 12,281,948 (GRCm39) I306V possibly damaging Het
Ror2 T C 13: 53,267,118 (GRCm39) D439G probably benign Het
Scn2a T A 2: 65,573,434 (GRCm39) I1428N probably damaging Het
Sgcg C T 14: 61,469,924 (GRCm39) D146N probably benign Het
Skic3 T C 13: 76,291,397 (GRCm39) probably null Het
Slc16a9 A G 10: 70,118,529 (GRCm39) R283G probably benign Het
Sptb T C 12: 76,668,105 (GRCm39) D664G probably benign Het
Tmprss3 T A 17: 31,413,982 (GRCm39) D54V probably damaging Het
Tubd1 G T 11: 86,456,555 (GRCm39) V374F probably benign Het
Vmn2r57 A T 7: 41,078,209 (GRCm39) M83K probably benign Het
Vps13c A G 9: 67,853,281 (GRCm39) E2458G probably benign Het
Vps35l G A 7: 118,396,270 (GRCm39) probably null Het
Other mutations in Zhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00694:Zhx2 APN 15 57,685,156 (GRCm39) missense probably benign
IGL02407:Zhx2 APN 15 57,686,802 (GRCm39) missense probably benign 0.00
IGL02456:Zhx2 APN 15 57,687,035 (GRCm39) missense possibly damaging 0.72
IGL02737:Zhx2 APN 15 57,685,663 (GRCm39) missense probably damaging 1.00
Gross UTSW 15 57,686,124 (GRCm39) missense probably damaging 1.00
Lange UTSW 15 57,685,572 (GRCm39) missense probably damaging 1.00
IGL03050:Zhx2 UTSW 15 57,686,229 (GRCm39) missense possibly damaging 0.90
R0010:Zhx2 UTSW 15 57,684,670 (GRCm39) missense possibly damaging 0.92
R0105:Zhx2 UTSW 15 57,686,091 (GRCm39) missense probably damaging 1.00
R0420:Zhx2 UTSW 15 57,685,236 (GRCm39) missense probably damaging 1.00
R0799:Zhx2 UTSW 15 57,684,709 (GRCm39) missense probably benign
R0800:Zhx2 UTSW 15 57,686,124 (GRCm39) missense probably damaging 1.00
R2273:Zhx2 UTSW 15 57,686,565 (GRCm39) missense probably benign 0.30
R2497:Zhx2 UTSW 15 57,686,551 (GRCm39) missense possibly damaging 0.48
R4198:Zhx2 UTSW 15 57,685,125 (GRCm39) missense probably benign
R4372:Zhx2 UTSW 15 57,686,697 (GRCm39) missense probably benign 0.02
R4992:Zhx2 UTSW 15 57,686,983 (GRCm39) missense probably damaging 0.96
R4994:Zhx2 UTSW 15 57,684,755 (GRCm39) missense probably benign 0.03
R5085:Zhx2 UTSW 15 57,686,089 (GRCm39) missense probably damaging 1.00
R5141:Zhx2 UTSW 15 57,685,182 (GRCm39) missense probably benign 0.00
R5470:Zhx2 UTSW 15 57,686,470 (GRCm39) missense possibly damaging 0.76
R5659:Zhx2 UTSW 15 57,685,704 (GRCm39) missense probably benign
R5710:Zhx2 UTSW 15 57,684,866 (GRCm39) nonsense probably null
R6171:Zhx2 UTSW 15 57,686,602 (GRCm39) missense probably damaging 1.00
R7181:Zhx2 UTSW 15 57,686,746 (GRCm39) missense probably benign
R7215:Zhx2 UTSW 15 57,687,039 (GRCm39) missense probably benign
R7273:Zhx2 UTSW 15 57,686,824 (GRCm39) missense probably benign 0.09
R7575:Zhx2 UTSW 15 57,686,658 (GRCm39) missense probably damaging 1.00
R7662:Zhx2 UTSW 15 57,685,572 (GRCm39) missense probably damaging 1.00
R7883:Zhx2 UTSW 15 57,685,270 (GRCm39) missense possibly damaging 0.67
R7966:Zhx2 UTSW 15 57,685,063 (GRCm39) missense probably damaging 0.99
R8824:Zhx2 UTSW 15 57,684,676 (GRCm39) missense probably damaging 0.96
R9111:Zhx2 UTSW 15 57,685,984 (GRCm39) missense probably damaging 1.00
R9742:Zhx2 UTSW 15 57,686,806 (GRCm39) missense probably benign 0.00
Posted On 2011-07-12