Incidental Mutation 'R5124:Zhx1'
ID 393467
Institutional Source Beutler Lab
Gene Symbol Zhx1
Ensembl Gene ENSMUSG00000022361
Gene Name zinc fingers and homeoboxes 1
Synonyms
MMRRC Submission 042712-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5124 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 57910399-57939904 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 57917470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 259 (G259R)
Ref Sequence ENSEMBL: ENSMUSP00000135230 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070143] [ENSMUST00000110168] [ENSMUST00000175805] [ENSMUST00000176076] [ENSMUST00000176935] [ENSMUST00000177276] [ENSMUST00000177176] [ENSMUST00000177504]
AlphaFold P70121
Predicted Effect probably damaging
Transcript: ENSMUST00000070143
AA Change: G259R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: G259R

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: G259R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: G259R

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: G259R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: G259R

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 damaging
Transcript: ENSMUST00000177276
AA Change: G259R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135230
Gene: ENSMUSG00000022361
AA Change: G259R

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
Predicted Effect probably benign
Transcript: ENSMUST00000177176
Predicted Effect probably benign
Transcript: ENSMUST00000177504
SMART Domains Protein: ENSMUSP00000135111
Gene: ENSMUSG00000022362

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
Meta Mutation Damage Score 0.1460 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
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 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A T 4: 144,401,289 (GRCm39) I65N probably damaging Het
Adpgk A G 9: 59,222,561 (GRCm39) D496G possibly damaging Het
Agbl4 A G 4: 111,513,525 (GRCm39) M424V probably benign Het
Akap10 C T 11: 61,807,015 (GRCm39) A72T probably damaging Het
Bpifa3 C T 2: 153,980,057 (GRCm39) Q230* probably null Het
Cog4 G T 8: 111,573,825 (GRCm39) R48L probably damaging Het
Cop1 A G 1: 159,105,682 (GRCm39) Y33C probably damaging Het
Cyp26a1 A T 19: 37,689,665 (GRCm39) I454L probably benign Het
Ddr1 T C 17: 35,994,489 (GRCm39) H762R probably damaging Het
Dnajc2 A T 5: 21,968,482 (GRCm39) S328T probably benign Het
Dppa2 G T 16: 48,131,986 (GRCm39) V28F probably damaging Het
Dusp15 T A 2: 152,793,275 (GRCm39) M1L possibly damaging Het
Eml5 G A 12: 98,758,301 (GRCm39) T1875M probably damaging Het
Fam186a A G 15: 99,840,977 (GRCm39) S1756P possibly damaging Het
Gm5431 T A 11: 48,779,866 (GRCm39) Q630L probably benign Het
H6pd A G 4: 150,066,512 (GRCm39) S625P possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj6 G T 16: 94,633,518 (GRCm39) P180T probably damaging Het
Lpin3 T A 2: 160,738,981 (GRCm39) M263K probably benign Het
Lrp2 A T 2: 69,331,834 (GRCm39) D1640E probably damaging Het
Lypd2 C T 15: 74,604,347 (GRCm39) A74T probably benign Het
Map4k1 T C 7: 28,688,257 (GRCm39) L223P probably damaging Het
Myh7 A T 14: 55,223,199 (GRCm39) Y715* probably null Het
Myo9b T C 8: 71,808,483 (GRCm39) S1697P probably damaging Het
Neb T C 2: 52,171,510 (GRCm39) E1661G probably damaging Het
Nek8 A T 11: 78,063,765 (GRCm39) M80K probably damaging Het
Nup188 T A 2: 30,220,947 (GRCm39) L979Q probably damaging Het
Or4c113 A T 2: 88,885,431 (GRCm39) V113D probably damaging Het
P4htm T A 9: 108,459,141 (GRCm39) S264C possibly damaging Het
Pcdha8 A G 18: 37,126,768 (GRCm39) T417A probably benign Het
Pclo T C 5: 14,727,406 (GRCm39) probably benign Het
Prox1 T A 1: 189,893,476 (GRCm39) N323I possibly damaging Het
Prune2 A T 19: 17,177,274 (GRCm39) R222S probably damaging Het
Psmd2 C A 16: 20,471,448 (GRCm39) R100S possibly damaging Het
Qrich2 A T 11: 116,337,599 (GRCm39) M1963K probably damaging Het
Rbm39 C T 2: 156,001,082 (GRCm39) G324D probably damaging Het
Rhobtb1 A T 10: 69,105,731 (GRCm39) probably null Het
Rhov G T 2: 119,101,568 (GRCm39) P13T unknown Het
Sec14l3 A G 11: 4,025,209 (GRCm39) D273G possibly damaging Het
Sirpd T A 3: 15,385,639 (GRCm39) R88* probably null Het
Slco2a1 T A 9: 102,927,365 (GRCm39) I86N probably damaging Het
Smg1 A T 7: 117,812,235 (GRCm39) S19T probably benign Het
Stk32a T C 18: 43,438,082 (GRCm39) S194P probably benign Het
Syna G A 5: 134,588,424 (GRCm39) S175L possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tmem151b T C 17: 45,858,045 (GRCm39) Y67C probably damaging Het
Tshz1 C T 18: 84,033,592 (GRCm39) R272Q probably damaging Het
Tti1 A G 2: 157,850,115 (GRCm39) S375P probably damaging Het
Vcan T C 13: 89,873,636 (GRCm39) K73E probably damaging Het
Vmn1r202 C T 13: 22,685,920 (GRCm39) V166I probably benign Het
Vmn2r10 A G 5: 109,154,286 (GRCm39) V6A probably benign Het
Zfhx4 A G 3: 5,307,107 (GRCm39) D111G probably 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
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
R5408: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'- GTTGGGCTGAAAACCAGATCTTG -3'
(R):5'- AGCTGAGGGCACTTCTGAAG -3'

Sequencing Primer
(F):5'- GGGCTGAAAACCAGATCTTGATTTG -3'
(R):5'- CTGAGGGCACTTCTGAAGAGAAAG -3'
Posted On 2016-06-15