Incidental Mutation 'R4372:Zhx2'
ID 326034
Institutional Source Beutler Lab
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 # R4372 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 57686697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 689 (S689G)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect probably benign
Transcript: ENSMUST00000096430
AA Change: S689G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: S689G

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,293 (GRCm39) Y213H probably damaging Het
Alg5 T C 3: 54,646,376 (GRCm39) probably null Het
Bend7 A T 2: 4,754,421 (GRCm39) I175F probably damaging Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dnah1 C T 14: 31,026,879 (GRCm39) R715H probably damaging Het
Ipp T A 4: 116,372,560 (GRCm39) D196E possibly damaging Het
Kcna5 A G 6: 126,510,320 (GRCm39) *603Q probably null Het
Kdm3b A G 18: 34,960,497 (GRCm39) T1161A probably benign Het
Kif20a A T 18: 34,762,531 (GRCm39) Q468L probably damaging Het
Map7d2 A G X: 158,273,680 (GRCm39) probably benign Het
Mdn1 A G 4: 32,743,809 (GRCm39) E4015G probably benign Het
Mri1 A G 8: 84,980,554 (GRCm39) V296A probably benign Het
Mtmr7 A G 8: 41,007,386 (GRCm39) S516P probably damaging Het
Pcdhb10 T C 18: 37,546,366 (GRCm39) S481P possibly damaging Het
Pip4p2 C T 4: 14,912,463 (GRCm39) R191C probably damaging Het
Pklr C T 3: 89,052,830 (GRCm39) R528* probably null Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Samsn1 G A 16: 75,656,344 (GRCm39) T368I possibly damaging Het
Sema4d T C 13: 51,866,767 (GRCm39) E241G probably damaging Het
Shank2 G A 7: 143,964,599 (GRCm39) G729R probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Vmn2r53 A G 7: 12,315,656 (GRCm39) V721A probably damaging Het
Wdr17 T A 8: 55,092,930 (GRCm39) Y1076F probably damaging Het
Wdr75 T C 1: 45,845,833 (GRCm39) 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
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'- TAGCTGGTTCTTTGCCCAG -3'
(R):5'- TCCTTGGTTGGATCACCACC -3'

Sequencing Primer
(F):5'- CAGTCCTTCATCAGCAATTGTAC -3'
(R):5'- ACTTTCATCCTCGGGACCAG -3'
Posted On 2015-07-06