Incidental Mutation 'R0799:Zhx2'
ID 76549
Institutional Source Beutler Lab
Gene Symbol Zhx2
Ensembl Gene ENSMUSG00000071757
Gene Name zinc fingers and homeoboxes 2
Synonyms Afr-1, Raf, Afr1
MMRRC Submission 038979-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R0799 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57684709 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 26 (E26G)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably benign
Transcript: ENSMUST00000096430
AA Change: E26G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: E26G

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 0.0613 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 100% (60/60)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik G A 4: 103,100,101 (GRCm39) T33I possibly damaging Het
4930555F03Rik A G 8: 49,948,474 (GRCm39) noncoding transcript Het
Abcf3 T C 16: 20,378,084 (GRCm39) L538P probably damaging Het
Adamts6 T C 13: 104,450,779 (GRCm39) S321P probably damaging Het
Adgra2 G A 8: 27,602,523 (GRCm39) R362H probably damaging Het
AI597479 T G 1: 43,150,330 (GRCm39) S147A probably benign Het
Ajm1 A G 2: 25,468,574 (GRCm39) S446P possibly damaging Het
Ampd3 T C 7: 110,399,904 (GRCm39) F340L probably damaging Het
Atad3a A G 4: 155,831,927 (GRCm39) V449A probably damaging Het
Bmal2 T C 6: 146,724,751 (GRCm39) probably benign Het
Bpifa6 A T 2: 153,834,192 (GRCm39) D328V probably benign Het
Brca2 T C 5: 150,483,658 (GRCm39) S2903P probably damaging Het
Cct3 A T 3: 88,206,652 (GRCm39) probably null Het
Cdk4 A G 10: 126,900,863 (GRCm39) T172A probably damaging Het
Chd5 A G 4: 152,468,616 (GRCm39) D1760G probably damaging Het
Chd7 A G 4: 8,801,310 (GRCm39) probably benign Het
Crybb2 T C 5: 113,210,037 (GRCm39) I109V probably benign Het
Csmd3 A G 15: 48,048,780 (GRCm39) probably benign Het
Dach1 G T 14: 98,406,051 (GRCm39) T232K possibly damaging Het
Dnlz A G 2: 26,241,485 (GRCm39) V81A possibly damaging Het
Epb41l4b A G 4: 57,086,003 (GRCm39) S191P probably damaging Het
Eps15l1 C T 8: 73,099,929 (GRCm39) D821N probably damaging Het
Fam186a G A 15: 99,839,893 (GRCm39) P2117L probably damaging Het
Fam83d T A 2: 158,621,808 (GRCm39) F173Y probably damaging Het
Gm9116 A T 3: 93,817,772 (GRCm39) R214S probably benign Het
Gtpbp1 A G 15: 79,600,401 (GRCm39) I445V probably damaging Het
H2-M2 G A 17: 37,793,640 (GRCm39) T122I probably damaging Het
Hgd C T 16: 37,448,971 (GRCm39) probably benign Het
Hip1r A G 5: 124,135,004 (GRCm39) Y380C probably benign Het
Hspa8 G A 9: 40,715,137 (GRCm39) G389R probably damaging Het
Htt C A 5: 34,975,097 (GRCm39) D622E probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kdm4a A G 4: 118,004,189 (GRCm39) probably null Het
Map3k9 G A 12: 81,769,043 (GRCm39) P1025S probably benign Het
Or8b47 G A 9: 38,435,437 (GRCm39) M136I probably benign Het
Pabpc1l C A 2: 163,873,134 (GRCm39) H135N probably benign Het
Pacsin2 A T 15: 83,263,998 (GRCm39) S346R probably benign Het
Pcdhb20 A G 18: 37,638,938 (GRCm39) Y488C probably damaging Het
Pkdcc G A 17: 83,531,347 (GRCm39) C452Y probably damaging Het
Poglut1 T C 16: 38,355,083 (GRCm39) probably null Het
Prss59 A G 6: 40,905,533 (GRCm39) M41T probably damaging Het
Pxk T C 14: 8,148,123 (GRCm38) F409L probably benign Het
Pygm G A 19: 6,436,048 (GRCm39) probably benign Het
Rabep2 T C 7: 126,037,896 (GRCm39) S223P probably damaging Het
Rpp40 C T 13: 36,086,034 (GRCm39) R109H probably benign Het
Sbf2 T C 7: 109,940,562 (GRCm39) Y1266C possibly damaging Het
Slc5a4a T C 10: 76,012,368 (GRCm39) V346A probably benign Het
Smpd3 G T 8: 106,991,421 (GRCm39) H377Q possibly damaging Het
Sppl2a C A 2: 126,762,227 (GRCm39) probably benign Het
Tas2r134 T C 2: 51,518,385 (GRCm39) I288T probably benign Het
Trim35 T A 14: 66,546,650 (GRCm39) H472Q probably damaging Het
Trpm5 C A 7: 142,632,088 (GRCm39) R907L probably damaging Het
Ube2e2 G T 14: 18,630,393 (GRCm38) S56* probably null Het
Vmn2r88 A C 14: 51,651,959 (GRCm39) R432S possibly damaging Het
Wdr24 A G 17: 26,045,102 (GRCm39) Y279C probably damaging Het
Wdr90 A G 17: 26,079,104 (GRCm39) V246A probably benign Het
Xrn2 T A 2: 146,871,818 (GRCm39) N385K probably benign Het
Zfp28 T A 7: 6,387,182 (GRCm39) S73T possibly damaging Het
Zfp345 T C 2: 150,314,271 (GRCm39) E422G 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
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
Predicted Primers PCR Primer
(F):5'- CCTGGTTCGCTCAGAGATTGCTAC -3'
(R):5'- GCAGTATTTGCACTCATAACCGCCC -3'

Sequencing Primer
(F):5'- CGCTCAGAGATTGCTACAGTTAC -3'
(R):5'- ATAACCGCCCTGTAGTTTTTTGG -3'
Posted On 2013-10-16