Incidental Mutation 'IGL02479:Zhx1'
ID295084
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zhx1
Ensembl Gene ENSMUSG00000022361
Gene Namezinc fingers and homeoboxes 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.379) question?
Stock #IGL02479
Quality Score
Status
Chromosome15
Chromosomal Location58047003-58076541 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 58054371 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 160 (E160K)
Ref Sequence ENSEMBL: ENSMUSP00000134844 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070143] [ENSMUST00000110168] [ENSMUST00000175805] [ENSMUST00000176076] [ENSMUST00000176935] [ENSMUST00000177176] [ENSMUST00000177276] [ENSMUST00000177504]
Predicted Effect probably damaging
Transcript: ENSMUST00000070143
AA Change: E160K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: E160K

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: E160K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: E160K

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: E160K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: E160K

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: ENSMUST00000177176
Predicted Effect probably damaging
Transcript: ENSMUST00000177276
AA Change: E160K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135230
Gene: ENSMUSG00000022361
AA Change: E160K

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: ENSMUST00000177504
SMART Domains Protein: ENSMUSP00000135111
Gene: ENSMUSG00000022362

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
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 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b T C 5: 121,501,398 Y528C probably damaging Het
Adam24 T A 8: 40,679,532 I13N probably benign Het
Arsj T C 3: 126,438,939 S445P possibly damaging Het
Btf3l4 G A 4: 108,826,176 T31I possibly damaging Het
Cask A T X: 13,557,058 D502E probably damaging Het
Cenpl T A 1: 161,083,067 S195T probably benign Het
Clhc1 T A 11: 29,578,107 I545N probably damaging Het
Clrn2 T C 5: 45,463,912 I216T probably benign Het
Csf2rb C T 15: 78,341,724 Q332* probably null Het
Cyp3a44 T C 5: 145,790,667 D284G probably benign Het
Dgka T C 10: 128,730,246 E345G probably benign Het
Dync1i2 G A 2: 71,235,979 V128I probably damaging Het
Eno3 T A 11: 70,660,888 probably benign Het
Epc2 T A 2: 49,532,135 I347K probably benign Het
F8 A T X: 75,288,240 N681K probably damaging Het
Fam207a T C 10: 77,514,327 S76G probably damaging Het
Fancm T A 12: 65,106,485 D1238E probably damaging Het
Fcna T A 2: 25,625,260 Q237L probably benign Het
Fpr2 A T 17: 17,892,812 R23S probably benign Het
Frmd3 A G 4: 74,187,515 D466G probably benign Het
Gen1 C A 12: 11,241,935 V618L probably benign Het
Gja4 T C 4: 127,312,424 E182G probably benign Het
Gsdmc T A 15: 63,777,975 I356F possibly damaging Het
Kctd19 T C 8: 105,384,768 D102G probably damaging Het
Lrit2 T C 14: 37,072,278 L433P probably damaging Het
Lrp2 G A 2: 69,464,801 probably benign Het
Luc7l3 G A 11: 94,296,909 probably benign Het
Map3k5 T A 10: 20,056,484 L458Q probably damaging Het
Mast4 A G 13: 102,742,037 S1038P probably damaging Het
Med12 A T X: 101,296,992 probably benign Het
Mtor T A 4: 148,470,584 L888M probably damaging Het
Nova1 A T 12: 46,816,918 I83N unknown Het
Obscn A G 11: 59,056,227 probably benign Het
Olfr1309 A C 2: 111,983,385 S230A probably benign Het
Olfr1320 T C X: 49,683,865 V121A probably benign Het
Olfr1426 T A 19: 12,087,905 M296L probably benign Het
Olfr420 C A 1: 174,158,954 Y60* probably null Het
Pde2a A G 7: 101,501,083 Y243C probably damaging Het
Pdzd8 T A 19: 59,299,783 K1062* probably null Het
Phc1 A T 6: 122,323,717 probably benign Het
Pik3c2g T A 6: 139,918,004 S764T probably benign Het
Pmp2 T G 3: 10,182,202 R89S probably benign Het
Prdm2 A G 4: 143,134,929 L597P probably damaging Het
Rfx6 T A 10: 51,678,328 D88E probably benign Het
Rgs9 T C 11: 109,225,652 S442G possibly damaging Het
Ror2 C T 13: 53,131,932 R82Q possibly damaging Het
Sez6 C A 11: 77,978,026 A986E possibly damaging Het
Slc5a5 T A 8: 70,888,911 M325L possibly damaging Het
Sppl2c G A 11: 104,186,937 V188I probably benign Het
Srrm3 G T 5: 135,835,249 C67F probably damaging Het
Stk31 A G 6: 49,421,688 E341G probably damaging Het
Svil A T 18: 5,099,476 M1267L probably damaging Het
Tas2r135 C T 6: 42,405,751 R75* probably null Het
Trav8d-1 T C 14: 52,778,800 S48P probably benign Het
Vrk1 A T 12: 106,051,002 Q95L probably benign Het
Wdr25 C A 12: 108,898,601 T224K probably benign Het
Wdr37 A T 13: 8,842,784 H224Q probably damaging Het
Other mutations in Zhx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Zhx1 APN 15 58053315 missense probably damaging 1.00
IGL00819:Zhx1 APN 15 58054694 missense probably benign 0.00
IGL01025:Zhx1 APN 15 58054679 missense probably benign 0.32
IGL01867:Zhx1 APN 15 58054445 missense probably damaging 1.00
IGL02000:Zhx1 APN 15 58054287 missense probably damaging 1.00
IGL02093:Zhx1 APN 15 58052868 missense probably benign
IGL02156:Zhx1 APN 15 58054049 missense possibly damaging 0.89
IGL02399:Zhx1 APN 15 58053741 missense probably damaging 1.00
R0667:Zhx1 UTSW 15 58053165 missense possibly damaging 0.71
R1502:Zhx1 UTSW 15 58054596 missense probably damaging 1.00
R2923:Zhx1 UTSW 15 58053681 missense probably damaging 0.99
R3039:Zhx1 UTSW 15 58053251 missense possibly damaging 0.91
R3401:Zhx1 UTSW 15 58054349 missense probably benign 0.13
R3403:Zhx1 UTSW 15 58054349 missense probably benign 0.13
R3979:Zhx1 UTSW 15 58053240 missense probably benign 0.14
R4086:Zhx1 UTSW 15 58052921 missense possibly damaging 0.93
R5013:Zhx1 UTSW 15 58054142 missense possibly damaging 0.61
R5124:Zhx1 UTSW 15 58054074 missense probably damaging 1.00
R5125:Zhx1 UTSW 15 58054074 missense probably damaging 1.00
R5180:Zhx1 UTSW 15 58054074 missense probably damaging 1.00
R5181:Zhx1 UTSW 15 58054074 missense probably damaging 1.00
R5186:Zhx1 UTSW 15 58052423 missense probably damaging 0.99
R5187:Zhx1 UTSW 15 58052423 missense probably damaging 0.99
R5408:Zhx1 UTSW 15 58052423 missense probably damaging 0.99
R5490:Zhx1 UTSW 15 58053299 missense probably damaging 1.00
R5629:Zhx1 UTSW 15 58054811 missense probably damaging 1.00
R6314:Zhx1 UTSW 15 58054002 missense probably benign 0.01
R6768:Zhx1 UTSW 15 58054103 missense probably benign 0.27
R7081:Zhx1 UTSW 15 58054338 missense probably benign 0.00
R7211:Zhx1 UTSW 15 58053251 missense possibly damaging 0.91
R7219:Zhx1 UTSW 15 58054337 missense probably benign
R7232:Zhx1 UTSW 15 58053069 missense probably benign 0.04
R7275:Zhx1 UTSW 15 58054362 missense probably benign
R7287:Zhx1 UTSW 15 58053296 missense probably damaging 1.00
Posted On2015-04-16