Incidental Mutation 'R5408:Zhx1'
ID 426421
Institutional Source Beutler Lab
Gene Symbol Zhx1
Ensembl Gene ENSMUSG00000022361
Gene Name zinc fingers and homeoboxes 1
Synonyms
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57910399-57939904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 57915819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 809 (M809K)
Ref Sequence ENSEMBL: ENSMUSP00000134844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070143] [ENSMUST00000110168] [ENSMUST00000175805] [ENSMUST00000176076] [ENSMUST00000176935] [ENSMUST00000177504] [ENSMUST00000177176] [ENSMUST00000177276]
AlphaFold P70121
Predicted Effect probably damaging
Transcript: ENSMUST00000070143
AA Change: M809K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: M809K

DomainStartEndE-ValueType
ZnF_C2H2 70 93 1.07e0 SMART
ZnF_C2H2 102 125 1.23e0 SMART
low complexity region 168 179 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
HOX 284 346 1.65e-4 SMART
HOX 464 526 6.93e-12 SMART
low complexity region 533 544 N/A INTRINSIC
low complexity region 547 554 N/A INTRINSIC
HOX 569 630 5.01e-4 SMART
low complexity region 638 652 N/A INTRINSIC
HOX 660 722 9.8e-12 SMART
low complexity region 728 765 N/A INTRINSIC
HOX 777 832 5.01e-4 SMART
low complexity region 833 859 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110168
AA Change: M809K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: M809K

DomainStartEndE-ValueType
ZnF_C2H2 70 93 1.07e0 SMART
ZnF_C2H2 102 125 1.23e0 SMART
low complexity region 168 179 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
HOX 284 346 1.65e-4 SMART
HOX 464 526 6.93e-12 SMART
low complexity region 533 544 N/A INTRINSIC
low complexity region 547 554 N/A INTRINSIC
HOX 569 630 5.01e-4 SMART
low complexity region 638 652 N/A INTRINSIC
HOX 660 722 9.8e-12 SMART
low complexity region 728 765 N/A INTRINSIC
HOX 777 832 5.01e-4 SMART
low complexity region 833 859 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000175805
AA Change: M809K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: M809K

DomainStartEndE-ValueType
ZnF_C2H2 70 93 1.07e0 SMART
ZnF_C2H2 102 125 1.23e0 SMART
low complexity region 168 179 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
HOX 284 346 1.65e-4 SMART
HOX 464 526 6.93e-12 SMART
low complexity region 533 544 N/A INTRINSIC
low complexity region 547 554 N/A INTRINSIC
HOX 569 630 5.01e-4 SMART
low complexity region 638 652 N/A INTRINSIC
HOX 660 722 9.8e-12 SMART
low complexity region 728 765 N/A INTRINSIC
HOX 777 832 5.01e-4 SMART
low complexity region 833 859 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176270
Predicted Effect probably benign
Transcript: ENSMUST00000176935
SMART Domains Protein: ENSMUSP00000134752
Gene: ENSMUSG00000022362

DomainStartEndE-ValueType
low complexity region 64 75 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177504
SMART Domains Protein: ENSMUSP00000135111
Gene: ENSMUSG00000022362

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177176
Predicted Effect probably benign
Transcript: ENSMUST00000177276
SMART Domains Protein: ENSMUSP00000135230
Gene: ENSMUSG00000022361

DomainStartEndE-ValueType
ZnF_C2H2 70 93 1.07e0 SMART
ZnF_C2H2 102 125 1.23e0 SMART
low complexity region 168 179 N/A INTRINSIC
low complexity region 216 238 N/A INTRINSIC
HOX 284 346 1.65e-4 SMART
HOX 464 526 6.93e-12 SMART
low complexity region 533 544 N/A INTRINSIC
low complexity region 547 554 N/A INTRINSIC
HOX 569 623 2.77e-2 SMART
Meta Mutation Damage Score 0.7459 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Slc7a2 G A 8: 41,368,042 (GRCm39) R602K probably damaging Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E possibly damaging Het
Other mutations in Zhx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Zhx1 APN 15 57,916,711 (GRCm39) missense probably damaging 1.00
IGL00819:Zhx1 APN 15 57,918,090 (GRCm39) missense probably benign 0.00
IGL01025:Zhx1 APN 15 57,918,075 (GRCm39) missense probably benign 0.32
IGL01867:Zhx1 APN 15 57,917,841 (GRCm39) missense probably damaging 1.00
IGL02000:Zhx1 APN 15 57,917,683 (GRCm39) missense probably damaging 1.00
IGL02093:Zhx1 APN 15 57,916,264 (GRCm39) missense probably benign
IGL02156:Zhx1 APN 15 57,917,445 (GRCm39) missense possibly damaging 0.89
IGL02399:Zhx1 APN 15 57,917,137 (GRCm39) missense probably damaging 1.00
IGL02479:Zhx1 APN 15 57,917,767 (GRCm39) missense probably damaging 1.00
R0667:Zhx1 UTSW 15 57,916,561 (GRCm39) missense possibly damaging 0.63
R1502:Zhx1 UTSW 15 57,917,992 (GRCm39) missense probably damaging 1.00
R2923:Zhx1 UTSW 15 57,917,077 (GRCm39) missense probably damaging 0.99
R3039:Zhx1 UTSW 15 57,916,647 (GRCm39) missense possibly damaging 0.91
R3401:Zhx1 UTSW 15 57,917,745 (GRCm39) missense probably benign 0.13
R3403:Zhx1 UTSW 15 57,917,745 (GRCm39) missense probably benign 0.13
R3979:Zhx1 UTSW 15 57,916,636 (GRCm39) missense probably benign 0.14
R4086:Zhx1 UTSW 15 57,916,317 (GRCm39) missense possibly damaging 0.93
R5013:Zhx1 UTSW 15 57,917,538 (GRCm39) missense possibly damaging 0.61
R5124:Zhx1 UTSW 15 57,917,470 (GRCm39) missense probably damaging 1.00
R5125:Zhx1 UTSW 15 57,917,470 (GRCm39) missense probably damaging 1.00
R5180:Zhx1 UTSW 15 57,917,470 (GRCm39) missense probably damaging 1.00
R5181:Zhx1 UTSW 15 57,917,470 (GRCm39) missense probably damaging 1.00
R5186:Zhx1 UTSW 15 57,915,819 (GRCm39) missense probably damaging 0.99
R5187:Zhx1 UTSW 15 57,915,819 (GRCm39) missense probably damaging 0.99
R5490:Zhx1 UTSW 15 57,916,695 (GRCm39) missense probably damaging 1.00
R5629:Zhx1 UTSW 15 57,918,207 (GRCm39) missense probably damaging 1.00
R6314:Zhx1 UTSW 15 57,917,398 (GRCm39) missense probably benign 0.01
R6768:Zhx1 UTSW 15 57,917,499 (GRCm39) missense probably benign 0.27
R7081:Zhx1 UTSW 15 57,917,734 (GRCm39) missense probably benign 0.00
R7211:Zhx1 UTSW 15 57,916,647 (GRCm39) missense possibly damaging 0.91
R7219:Zhx1 UTSW 15 57,917,733 (GRCm39) missense probably benign
R7232:Zhx1 UTSW 15 57,916,465 (GRCm39) missense probably benign 0.04
R7275:Zhx1 UTSW 15 57,917,758 (GRCm39) missense probably benign
R7287:Zhx1 UTSW 15 57,916,692 (GRCm39) missense probably damaging 1.00
R7369:Zhx1 UTSW 15 57,916,696 (GRCm39) missense probably damaging 1.00
R7381:Zhx1 UTSW 15 57,916,561 (GRCm39) missense possibly damaging 0.63
R7810:Zhx1 UTSW 15 57,911,798 (GRCm39) splice site probably null
R8103:Zhx1 UTSW 15 57,916,662 (GRCm39) missense probably benign 0.32
R8256:Zhx1 UTSW 15 57,916,359 (GRCm39) missense probably benign 0.27
R9422:Zhx1 UTSW 15 57,916,071 (GRCm39) missense probably damaging 1.00
R9517:Zhx1 UTSW 15 57,915,812 (GRCm39) nonsense probably null
R9768:Zhx1 UTSW 15 57,918,207 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCGCTTCACATGTCGTGG -3'
(R):5'- TGAATGGTCTATCTTCCCTTAGGAG -3'

Sequencing Primer
(F):5'- GGGGTTCCCAAGTGTCACTATC -3'
(R):5'- CTATCTTCCCTTAGGAGAAGAGGG -3'
Posted On 2016-09-01