Incidental Mutation 'IGL02407:Zhx2'
ID 292143
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 # IGL02407
Quality Score
Status
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57686802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 724 (S724G)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably benign
Transcript: ENSMUST00000096430
AA Change: S724G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: S724G

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,645,575 (GRCm39) W1040* probably null Het
Adgrv1 C A 13: 81,627,789 (GRCm39) A3691S probably damaging Het
Als2cl T A 9: 110,718,295 (GRCm39) Y345* probably null Het
Aplp2 A T 9: 31,069,823 (GRCm39) Y496* probably null Het
Ash1l T C 3: 88,979,855 (GRCm39) V2793A probably damaging Het
Bfsp1 A T 2: 143,668,853 (GRCm39) D575E probably benign Het
Ceacam20 G T 7: 19,704,332 (GRCm39) V128F probably benign Het
Cers4 A T 8: 4,570,306 (GRCm39) K204* probably null Het
Cog1 T C 11: 113,544,852 (GRCm39) Y345H probably benign Het
Col14a1 T C 15: 55,312,272 (GRCm39) probably benign Het
Col19a1 A T 1: 24,351,453 (GRCm39) probably null Het
Ctnnd2 T A 15: 30,966,914 (GRCm39) M955K probably damaging Het
Cyp3a16 A T 5: 145,388,652 (GRCm39) M275K probably damaging Het
Degs2 T G 12: 108,658,254 (GRCm39) T242P probably damaging Het
Elac2 T C 11: 64,890,001 (GRCm39) V612A probably benign Het
Elovl6 T A 3: 129,398,733 (GRCm39) F45I probably damaging Het
Exoc1 A C 5: 76,693,193 (GRCm39) N360H probably damaging Het
Fam221b A T 4: 43,666,309 (GRCm39) S101T possibly damaging Het
Garre1 A T 7: 33,955,909 (GRCm39) N393K probably damaging Het
Glyr1 A G 16: 4,854,812 (GRCm39) F89L probably benign Het
Herc4 C A 10: 63,142,203 (GRCm39) T668K probably damaging Het
Hibadh C T 6: 52,525,874 (GRCm39) V259I possibly damaging Het
Hp1bp3 T A 4: 137,967,983 (GRCm39) D397E probably damaging Het
Ift80 G T 3: 68,805,869 (GRCm39) D724E probably benign Het
Igkv3-10 T C 6: 70,550,223 (GRCm39) probably benign Het
Irf9 G T 14: 55,842,678 (GRCm39) A75S possibly damaging Het
Kif13a C T 13: 46,938,769 (GRCm39) V76M probably damaging Het
Krt4 T C 15: 101,829,740 (GRCm39) I263V probably benign Het
Lgals8 A G 13: 12,469,699 (GRCm39) W87R probably benign Het
Mccc2 G A 13: 100,127,816 (GRCm39) P96L probably damaging Het
Megf11 A C 9: 64,587,531 (GRCm39) D443A probably damaging Het
Nckap5l T C 15: 99,321,008 (GRCm39) probably benign Het
Ndor1 A G 2: 25,139,281 (GRCm39) V230A probably benign Het
Nif3l1 G T 1: 58,496,956 (GRCm39) V294L possibly damaging Het
Or4k39 T A 2: 111,238,923 (GRCm39) noncoding transcript Het
Pcdhb13 T A 18: 37,576,128 (GRCm39) Y169N probably damaging Het
Peg3 A G 7: 6,710,635 (GRCm39) I1529T probably damaging Het
Piezo2 T A 18: 63,279,915 (GRCm39) I219F probably damaging Het
Prpf38a G A 4: 108,424,836 (GRCm39) R242W unknown Het
Prrc2a A T 17: 35,379,480 (GRCm39) D255E unknown Het
Rapgef6 G T 11: 54,567,181 (GRCm39) D1121Y possibly damaging Het
Ryr3 T A 2: 112,585,303 (GRCm39) H2761L probably damaging Het
Sel1l A T 12: 91,810,042 (GRCm39) probably benign Het
Slc30a9 A G 5: 67,510,065 (GRCm39) D539G probably damaging Het
Slc38a9 A G 13: 112,826,777 (GRCm39) S172G probably benign Het
Slfn2 C A 11: 82,960,402 (GRCm39) T127K probably benign Het
Smurf1 A T 5: 144,821,534 (GRCm39) M496K probably damaging Het
Srgap2 A T 1: 131,247,340 (GRCm39) V564D probably damaging Het
Stk32a T C 18: 43,430,576 (GRCm39) I162T probably benign Het
Tchhl1 A T 3: 93,378,634 (GRCm39) N446I possibly damaging Het
Tmem64 T A 4: 15,266,584 (GRCm39) H211Q probably damaging Het
Trim3 T C 7: 105,262,218 (GRCm39) N586S probably benign Het
Trpm1 A G 7: 63,868,869 (GRCm39) E507G probably damaging Het
Tyk2 G T 9: 21,020,523 (GRCm39) probably benign Het
Ugt3a1 A T 15: 9,365,316 (GRCm39) K310* probably null Het
Unc13a T A 8: 72,101,586 (GRCm39) N1022Y probably damaging Het
Vmn1r172 A T 7: 23,359,228 (GRCm39) N38Y probably damaging Het
Vmn2r100 A T 17: 19,741,770 (GRCm39) I161F probably damaging Het
Zcchc17 A G 4: 130,243,108 (GRCm39) M25T probably benign Het
Zfp563 G A 17: 33,323,795 (GRCm39) R130Q probably benign Het
Other mutations in Zhx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00159:Zhx2 APN 15 57,686,266 (GRCm39) missense probably damaging 1.00
IGL00694:Zhx2 APN 15 57,685,156 (GRCm39) missense probably benign
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 2015-04-16