Incidental Mutation 'R7181:Zhx2'
ID 559007
Institutional Source Beutler Lab
Gene Symbol Zhx2
Ensembl Gene ENSMUSG00000071757
Gene Name zinc fingers and homeoboxes 2
Synonyms Afr-1, Raf, Afr1
MMRRC Submission 045270-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R7181 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 57686746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 705 (R705H)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably benign
Transcript: ENSMUST00000096430
AA Change: R705H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: R705H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,188,037 (GRCm39) N182D probably benign Het
Adgrl1 A G 8: 84,652,878 (GRCm39) probably null Het
Adm T C 7: 110,228,236 (GRCm39) I139T probably damaging Het
Ahnak A T 19: 8,990,852 (GRCm39) K4045N probably damaging Het
Axin1 T A 17: 26,392,752 (GRCm39) S344R probably damaging Het
Cacna1g T C 11: 94,306,691 (GRCm39) S1896G probably benign Het
Cd209c A G 8: 3,995,712 (GRCm39) V30A probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Cdh8 A T 8: 99,825,557 (GRCm39) M520K probably benign Het
Cyp2b23 G A 7: 26,373,828 (GRCm39) T306I probably damaging Het
Dnajc10 T G 2: 80,149,587 (GRCm39) Y96* probably null Het
Eif1ad14 G A 12: 87,886,492 (GRCm39) R46W possibly damaging Het
Elmod1 A C 9: 53,841,382 (GRCm39) probably null Het
Eva1b A G 4: 126,043,446 (GRCm39) H162R possibly damaging Het
Fam222b A T 11: 78,045,804 (GRCm39) N455I probably damaging Het
Fer1l6 G A 15: 58,447,146 (GRCm39) A626T probably benign Het
Fgd6 A G 10: 93,879,373 (GRCm39) T76A probably benign Het
Fndc7 A G 3: 108,788,640 (GRCm39) probably null Het
Gabrg2 T A 11: 41,811,261 (GRCm39) I295F probably damaging Het
Gm10406 A T 14: 7,027,359 (GRCm38) probably null Het
Gm47189 T C 14: 41,492,059 (GRCm39) M73V probably benign Het
Gm9758 A T 5: 14,963,667 (GRCm39) S54T probably damaging Het
Gm9857 A G 3: 108,847,554 (GRCm39) S70P unknown Het
Gsap A T 5: 21,458,427 (GRCm39) E470D probably damaging Het
Hesx1 T A 14: 26,722,678 (GRCm39) M1K probably null Het
Hirip3 A G 7: 126,463,235 (GRCm39) D397G probably damaging Het
Kalrn T A 16: 33,983,447 (GRCm39) N13I probably benign Het
Mettl8 A T 2: 70,803,706 (GRCm39) S194T possibly damaging Het
Mrps35 T G 6: 146,957,491 (GRCm39) probably null Het
Myrfl G T 10: 116,697,448 (GRCm39) N25K probably damaging Het
Or51b6b C A 7: 103,310,020 (GRCm39) G146C probably damaging Het
Or7a41 A G 10: 78,871,287 (GRCm39) Y219C probably damaging Het
Or9k2b A T 10: 130,016,626 (GRCm39) I41N possibly damaging Het
Phf14 A T 6: 11,933,340 (GRCm39) E67D unknown Het
Prdm16 C T 4: 154,613,094 (GRCm39) G111D probably damaging Het
Prex1 G A 2: 166,412,291 (GRCm39) A1568V probably damaging Het
Ptpn23 G A 9: 110,214,325 (GRCm39) T1692I unknown Het
Ptprb C T 10: 116,204,671 (GRCm39) S1835L probably damaging Het
Rbm19 G A 5: 120,254,532 (GRCm39) probably benign Het
Rgs7bp T A 13: 105,119,382 (GRCm39) H152L possibly damaging Het
Rmdn3 A T 2: 118,969,849 (GRCm39) L404Q probably damaging Het
Rock2 T A 12: 17,023,144 (GRCm39) F1148I probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sec24c C A 14: 20,739,401 (GRCm39) H559N probably damaging Het
Sephs2 T C 7: 126,872,992 (GRCm39) S34G probably benign Het
Serpina6 A T 12: 103,613,203 (GRCm39) S366T probably benign Het
Serpinb7 A T 1: 107,378,052 (GRCm39) E248D probably benign Het
Sesn1 G T 10: 41,779,724 (GRCm39) R386L possibly damaging Het
Skida1 T C 2: 18,051,602 (GRCm39) S430G unknown Het
Slc28a2 A T 2: 122,282,462 (GRCm39) probably null Het
Slc39a8 T C 3: 135,563,299 (GRCm39) F203S possibly damaging Het
Svip A G 7: 51,653,177 (GRCm39) S46P possibly damaging Het
Tbx21 T A 11: 96,989,923 (GRCm39) D423V probably benign Het
Tcirg1 G A 19: 3,953,576 (GRCm39) A117V probably null Het
Tmem63b T A 17: 45,984,094 (GRCm39) K258N probably benign Het
Tmem94 A G 11: 115,685,600 (GRCm39) N951S probably damaging Het
Uba2 G T 7: 33,840,854 (GRCm39) D591E probably benign Het
Unc13b C T 4: 43,258,893 (GRCm39) R1356W probably damaging Het
Wasf3 A G 5: 146,403,615 (GRCm39) T242A probably benign Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp770 T C 2: 114,027,872 (GRCm39) K66E probably damaging Het
Zfyve26 A T 12: 79,315,182 (GRCm39) D1431E 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
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
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
Predicted Primers PCR Primer
(F):5'- CCAGTCCTTCATCAGCAATTG -3'
(R):5'- TGCCTGCCAAACAGTCCTTG -3'

Sequencing Primer
(F):5'- TGTACAAAATCAAGAACAGGTTCAC -3'
(R):5'- AAACAGTCCTTGGTTGGATCACC -3'
Posted On 2019-06-26