Incidental Mutation 'IGL02737:Zhx2'
ID 305693
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 # IGL02737
Quality Score
Status
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 57685663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 344 (T344N)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably damaging
Transcript: ENSMUST00000096430
AA Change: T344N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: T344N

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T A 2: 68,566,904 (GRCm39) H434Q possibly damaging Het
5430401F13Rik A T 6: 131,529,555 (GRCm39) I50L probably benign Het
Ahnak G A 19: 8,981,957 (GRCm39) M1080I probably benign Het
Aoc1 A G 6: 48,884,577 (GRCm39) K540R probably benign Het
Aplp2 T C 9: 31,064,712 (GRCm39) M585V probably benign Het
C3 A G 17: 57,511,281 (GRCm39) L1607P probably benign Het
C6 A G 15: 4,826,396 (GRCm39) K660E probably benign Het
Cabin1 T C 10: 75,549,419 (GRCm39) T1329A probably benign Het
Ccdc141 T A 2: 76,888,268 (GRCm39) N499I probably damaging Het
Cdh5 A G 8: 104,869,560 (GRCm39) D762G probably damaging Het
Cep152 T C 2: 125,428,394 (GRCm39) R746G possibly damaging Het
Cps1 A T 1: 67,187,933 (GRCm39) Q198L probably benign Het
Cstpp1 T A 2: 91,135,142 (GRCm39) Q9L probably damaging Het
Eri3 T C 4: 117,422,057 (GRCm39) F112L probably damaging Het
Fam180a C A 6: 35,290,488 (GRCm39) R165L probably benign Het
Fkbp10 A C 11: 100,313,481 (GRCm39) I252L probably benign Het
Gtf2f1 G T 17: 57,310,918 (GRCm39) Q410K possibly damaging Het
Hmcn1 T C 1: 150,439,579 (GRCm39) Y5535C probably damaging Het
Ifrd2 T A 9: 107,469,369 (GRCm39) D372E probably benign Het
Il3ra A G 14: 14,350,760 (GRCm38) N165S probably benign Het
Kntc1 A G 5: 123,957,183 (GRCm39) N2164S probably benign Het
Krtap19-9a A G 16: 88,721,099 (GRCm39) noncoding transcript Het
Nopchap1 T A 10: 83,200,309 (GRCm39) M90K probably damaging Het
Or12d13 T A 17: 37,647,664 (GRCm39) H153L possibly damaging Het
Pclo T C 5: 14,764,177 (GRCm39) S4217P unknown Het
Ppfibp1 G A 6: 146,928,806 (GRCm39) V798I probably damaging Het
Prune2 A T 19: 17,170,775 (GRCm39) R165* probably null Het
Ptges T C 2: 30,782,698 (GRCm39) Y118C probably damaging Het
Rab11fip5 C A 6: 85,325,540 (GRCm39) G289W probably damaging Het
Rfc1 T C 5: 65,468,506 (GRCm39) D69G possibly damaging Het
Scube1 A G 15: 83,606,044 (GRCm39) probably benign Het
Slc5a6 G A 5: 31,194,511 (GRCm39) P565L probably benign Het
Sncaip C A 18: 53,040,128 (GRCm39) T774K probably benign Het
Spata31f1a C A 4: 42,849,431 (GRCm39) L908F possibly damaging Het
Specc1l G A 10: 75,082,158 (GRCm39) S535N probably damaging Het
Tbk1 C T 10: 121,395,767 (GRCm39) G442E probably null Het
Thoc7 A T 14: 13,953,443 (GRCm38) M78K possibly damaging Het
Usp15 A G 10: 122,966,937 (GRCm39) F461S probably damaging Het
Vmn2r6 T A 3: 64,463,911 (GRCm39) I308L possibly 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
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