Incidental Mutation 'R5470:Zhx2'
ID 433492
Institutional Source Beutler Lab
Gene Symbol Zhx2
Ensembl Gene ENSMUSG00000071757
Gene Name zinc fingers and homeoboxes 2
Synonyms Afr-1, Raf, Afr1
MMRRC Submission 043031-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.268) question?
Stock # R5470 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57558063-57703228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 57686470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 613 (R613L)
Ref Sequence ENSEMBL: ENSMUSP00000094164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096430]
AlphaFold Q8C0C0
Predicted Effect possibly damaging
Transcript: ENSMUST00000096430
AA Change: R613L

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: R613L

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 0.0798 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,215,715 (GRCm39) I813F probably damaging Het
Aqr G A 2: 113,988,056 (GRCm39) L169F probably damaging Het
Atp6v1d G A 12: 78,892,058 (GRCm39) R182C probably benign Het
Bcl2l13 G T 6: 120,839,833 (GRCm39) A44S probably benign Het
Brip1 T C 11: 86,039,368 (GRCm39) K389E possibly damaging Het
C530025M09Rik G A 2: 149,673,045 (GRCm39) probably benign Het
Ccdc7b T A 8: 129,799,081 (GRCm39) S53T possibly damaging Het
Chd8 A G 14: 52,450,066 (GRCm39) F154L probably damaging Het
Cop1 A T 1: 159,094,430 (GRCm39) probably benign Het
Cyp2c39 A G 19: 39,501,974 (GRCm39) K121R possibly damaging Het
Cyp3a57 A G 5: 145,309,429 (GRCm39) M256V probably benign Het
Deup1 T C 9: 15,493,916 (GRCm39) probably null Het
Dnah10 A G 5: 124,830,232 (GRCm39) N709D probably benign Het
Dthd1 A G 5: 62,976,109 (GRCm39) Y261C probably damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
En2 C T 5: 28,371,922 (GRCm39) T133M probably benign Het
Endou A G 15: 97,616,836 (GRCm39) F229S probably damaging Het
Etl4 A T 2: 20,534,791 (GRCm39) H79L probably damaging Het
Fah C T 7: 84,242,393 (GRCm39) probably null Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fignl1 T A 11: 11,752,640 (GRCm39) E138D probably benign Het
Fndc3a A G 14: 72,812,008 (GRCm39) L311P possibly damaging Het
Gdf9 T A 11: 53,327,581 (GRCm39) V179E probably benign Het
Gm14129 G T 2: 148,769,737 (GRCm39) noncoding transcript Het
Gorab A G 1: 163,220,078 (GRCm39) I188T probably damaging Het
Gpr152 G A 19: 4,193,128 (GRCm39) C223Y probably damaging Het
Heatr5b A T 17: 79,129,008 (GRCm39) probably null Het
Hsd17b3 G T 13: 64,221,713 (GRCm39) T104N probably damaging Het
Il6ra C T 3: 89,793,302 (GRCm39) V283M probably benign Het
Klk1b16 A T 7: 43,786,755 (GRCm39) I5F probably damaging Het
Krt74 G A 15: 101,662,900 (GRCm39) noncoding transcript Het
Lrch3 T A 16: 32,818,960 (GRCm39) N650K probably damaging Het
Ly96 A T 1: 16,779,710 (GRCm39) E126D probably benign Het
Mgarp C A 3: 51,298,706 (GRCm39) R66L possibly damaging Het
Naalad2 T A 9: 18,242,147 (GRCm39) T586S probably damaging Het
Ndufaf3 T C 9: 108,443,643 (GRCm39) probably benign Het
Neb A G 2: 52,139,450 (GRCm39) M3055T possibly damaging Het
Neo1 G T 9: 58,838,350 (GRCm39) A478D probably damaging Het
Nmrk1 A T 19: 18,617,248 (GRCm39) probably null Het
Nsl1 T C 1: 190,812,737 (GRCm39) M184T probably benign Het
Nup133 T C 8: 124,657,705 (GRCm39) N410S probably benign Het
Opalin A G 19: 41,054,970 (GRCm39) S75P probably benign Het
Or1e17 T C 11: 73,831,696 (GRCm39) I208T probably benign Het
Or3a4 A G 11: 73,944,733 (GRCm39) I284T possibly damaging Het
Or51ag1 T G 7: 103,155,716 (GRCm39) I146L probably benign Het
Palb2 C A 7: 121,713,574 (GRCm39) C903F probably damaging Het
Pcm1 T A 8: 41,740,720 (GRCm39) W989R probably damaging Het
Pfkfb4 T A 9: 108,856,661 (GRCm39) I389N probably damaging Het
Pitrm1 T C 13: 6,603,306 (GRCm39) C119R probably benign Het
Plekha1 T C 7: 130,510,106 (GRCm39) V45A probably damaging Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Rcan2 A G 17: 44,147,174 (GRCm39) D4G probably benign Het
Slc12a1 A T 2: 125,012,634 (GRCm39) T299S probably damaging Het
Slc22a29 A T 19: 8,138,880 (GRCm39) H527Q probably benign Het
Slc22a8 G A 19: 8,585,234 (GRCm39) R261H probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco4a1 T C 2: 180,115,907 (GRCm39) F681S probably benign Het
Sorcs2 A T 5: 36,188,527 (GRCm39) H860Q probably benign Het
Strn A T 17: 78,964,374 (GRCm39) H530Q probably benign Het
Tex14 A G 11: 87,442,430 (GRCm39) R179G probably damaging Het
Tjp3 T C 10: 81,115,381 (GRCm39) D350G probably benign Het
Tnrc6b G T 15: 80,800,912 (GRCm39) R1406L possibly damaging Het
Tnxb A G 17: 34,935,947 (GRCm39) D2666G probably null Het
Ttn A T 2: 76,560,208 (GRCm39) Y27652N probably benign Het
Utp20 T A 10: 88,653,758 (GRCm39) E287D probably benign Het
Vmn1r45 T C 6: 89,910,698 (GRCm39) I91V probably benign Het
Wdr72 A T 9: 74,046,981 (GRCm39) K76* probably null Het
Zfp689 C T 7: 127,043,425 (GRCm39) A402T probably damaging Het
Zfpm1 A G 8: 123,060,532 (GRCm39) E207G 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
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
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'- ACAGTTGAAAACCCTGGAAGAC -3'
(R):5'- AATCTCAGTTCGGACCAGGC -3'

Sequencing Primer
(F):5'- GTTGAAAACCCTGGAAGACAGCTTTC -3'
(R):5'- CCGGTCTTGGCAGCTAAC -3'
Posted On 2016-10-06