Incidental Mutation 'R5085:Zhx2'
ID 387392
Institutional Source Beutler Lab
Gene Symbol Zhx2
Ensembl Gene ENSMUSG00000071757
Gene Name zinc fingers and homeoboxes 2
Synonyms Afr-1, Raf, Afr1
MMRRC Submission 042674-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R5085 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 57686089 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Serine at position 486 (W486S)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably damaging
Transcript: ENSMUST00000096430
AA Change: W486S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: W486S

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
Meta Mutation Damage Score 0.9691 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 92% (69/75)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,653,837 (GRCm39) K129* probably null Het
Adamts6 A T 13: 104,443,751 (GRCm39) D162V probably damaging Het
Alms1 C A 6: 85,597,714 (GRCm39) P1316T possibly damaging Het
AU040320 A T 4: 126,722,664 (GRCm39) N394I possibly damaging Het
Cacng8 T C 7: 3,464,096 (GRCm39) L416P possibly damaging Het
Ccdc136 T A 6: 29,419,313 (GRCm39) N944K probably damaging Het
Clcn1 C T 6: 42,290,814 (GRCm39) T896I probably benign Het
Col16a1 A T 4: 129,947,964 (GRCm39) Y228F probably damaging Het
Cyfip1 A G 7: 55,548,083 (GRCm39) D561G probably benign Het
Ddr1 T A 17: 35,993,667 (GRCm39) probably null Het
Dedd2 A T 7: 24,918,411 (GRCm39) L48Q probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dph3b-ps A G 13: 106,683,558 (GRCm39) noncoding transcript Het
Dppa3 T C 6: 122,606,891 (GRCm39) F127S probably damaging Het
Dpy19l4 C T 4: 11,265,943 (GRCm39) probably null Het
Flrt3 T C 2: 140,502,177 (GRCm39) T484A probably damaging Het
Gldc T C 19: 30,128,936 (GRCm39) E179G probably damaging Het
Gm14403 A G 2: 177,200,282 (GRCm39) E76G probably benign Het
Gm6421 G A 13: 117,494,969 (GRCm39) noncoding transcript Het
Grk5 T C 19: 61,065,122 (GRCm39) V262A probably damaging Het
Grp A G 18: 66,013,230 (GRCm39) Q132R probably benign Het
Hap1 A G 11: 100,246,537 (GRCm39) F123L probably damaging Het
Hrc A G 7: 44,986,445 (GRCm39) D532G probably damaging Het
Igsf9b C A 9: 27,228,733 (GRCm39) F164L probably benign Het
Irag1 G T 7: 110,470,700 (GRCm39) L672I probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kansl1 C T 11: 104,315,168 (GRCm39) R290Q probably damaging Het
Kifc2 T A 15: 76,545,496 (GRCm39) L81Q probably damaging Het
Klrc3 T C 6: 129,616,538 (GRCm39) R160G probably damaging Het
Mal A G 2: 127,482,193 (GRCm39) M70T probably benign Het
Mep1a T G 17: 43,789,035 (GRCm39) R580S probably damaging Het
Methig1 A T 15: 100,251,130 (GRCm39) I14F probably damaging Het
Mtf1 T C 4: 124,715,101 (GRCm39) L242P probably damaging Het
Nfkb1 C A 3: 135,309,568 (GRCm39) A509S probably benign Het
Or2h2b-ps1 C G 17: 37,480,858 (GRCm39) S227T probably benign Het
Or2n1b G A 17: 38,460,003 (GRCm39) D175N probably damaging Het
Or5ac24 A T 16: 59,165,449 (GRCm39) I205K probably damaging Het
Or7a36 G T 10: 78,819,928 (GRCm39) M101I probably benign Het
Or8k23 A T 2: 86,186,318 (GRCm39) M136K probably damaging Het
Pabpc2 A T 18: 39,907,635 (GRCm39) N300I probably damaging Het
Peg10 C T 6: 4,755,864 (GRCm39) probably benign Het
Ppp1r3a T A 6: 14,719,603 (GRCm39) D437V probably damaging Het
Prickle1 A G 15: 93,398,783 (GRCm39) S682P probably damaging Het
Prkab2 T C 3: 97,580,308 (GRCm39) probably benign Het
Pus3 T A 9: 35,476,932 (GRCm39) L243Q possibly damaging Het
Relch A G 1: 105,605,905 (GRCm39) S182G probably damaging Het
Rgs19 G A 2: 181,331,336 (GRCm39) T99M possibly damaging Het
Ripk2 A G 4: 16,127,663 (GRCm39) S360P possibly damaging Het
Rock1 A G 18: 10,140,210 (GRCm39) I127T probably damaging Het
Serpinb10 T G 1: 107,469,947 (GRCm39) M143R probably damaging Het
Sipa1l3 G A 7: 29,048,000 (GRCm39) S247F probably damaging Het
Skint6 T A 4: 113,093,465 (GRCm39) Q226L probably damaging Het
Slc6a19 T C 13: 73,839,872 (GRCm39) M137V probably benign Het
Supv3l1 A T 10: 62,271,291 (GRCm39) N415K probably benign Het
Tekt4 A G 17: 25,692,749 (GRCm39) R192G probably damaging Het
Trgv7 A T 13: 19,362,598 (GRCm39) K96* probably null Het
Tshz1 T C 18: 84,032,053 (GRCm39) N785S probably benign Het
Usb1 A G 8: 96,070,679 (GRCm39) T202A probably damaging Het
Utp18 A T 11: 93,761,363 (GRCm39) D348E possibly damaging Het
Vmn1r42 T G 6: 89,821,598 (GRCm39) I324L probably benign Het
Wnt8a A T 18: 34,678,656 (GRCm39) R157* probably null Het
Ypel1 A G 16: 16,902,472 (GRCm39) probably null Het
Zfp235 A G 7: 23,836,546 (GRCm39) K31E probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCTGGTGACTCCTCAAGCTG -3'
(R):5'- CCAGGGTTTTCAACTGTCCTTG -3'

Sequencing Primer
(F):5'- TCCACACATTGCCCAGGTG -3'
(R):5'- GGCTTTTCTCTTTGAACTTCTGCGG -3'
Posted On 2016-06-06