Incidental Mutation 'IGL01759:Zhx3'
ID 153532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zhx3
Ensembl Gene ENSMUSG00000035877
Gene Name zinc fingers and homeoboxes 3
Synonyms Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01759
Quality Score
Status
Chromosome 2
Chromosomal Location 160612367-160714910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 160622634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 511 (N511S)
Ref Sequence ENSEMBL: ENSMUSP00000105086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103111] [ENSMUST00000103112] [ENSMUST00000103115] [ENSMUST00000109460] [ENSMUST00000127201] [ENSMUST00000176141]
AlphaFold Q8C0Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000103111
AA Change: N511S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: N511S

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
ZnF_C2H2 77 100 1.86e0 SMART
ZnF_C2H2 109 132 1.08e1 SMART
low complexity region 167 189 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
HOX 300 362 1.48e-6 SMART
low complexity region 434 447 N/A INTRINSIC
low complexity region 457 473 N/A INTRINSIC
HOX 489 551 2.25e-11 SMART
HOX 608 669 2.04e-9 SMART
low complexity region 677 690 N/A INTRINSIC
HOX 759 821 7.49e-8 SMART
Pfam:Homez 836 888 5.2e-26 PFAM
low complexity region 919 936 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000103112
AA Change: N511S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: N511S

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
ZnF_C2H2 77 100 1.86e0 SMART
ZnF_C2H2 109 132 1.08e1 SMART
low complexity region 167 189 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
HOX 300 362 1.48e-6 SMART
low complexity region 434 447 N/A INTRINSIC
low complexity region 457 473 N/A INTRINSIC
HOX 489 551 2.25e-11 SMART
HOX 608 669 2.04e-9 SMART
low complexity region 677 690 N/A INTRINSIC
HOX 759 821 7.49e-8 SMART
Pfam:Homez 836 888 5.2e-26 PFAM
low complexity region 919 936 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103115
SMART Domains Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933

DomainStartEndE-ValueType
PH 33 144 5.54e-7 SMART
PLCXc 320 464 3.7e-91 SMART
PH 489 680 2.99e1 SMART
SH2 548 645 1.12e-30 SMART
SH2 666 747 3.78e-28 SMART
SH3 794 850 6.49e-16 SMART
PH 804 933 8.93e-2 SMART
PLCYc 953 1070 3.23e-73 SMART
C2 1089 1192 1.37e-13 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109460
AA Change: N511S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: N511S

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
ZnF_C2H2 77 100 1.86e0 SMART
ZnF_C2H2 109 132 1.08e1 SMART
low complexity region 167 189 N/A INTRINSIC
low complexity region 238 249 N/A INTRINSIC
HOX 300 362 1.48e-6 SMART
low complexity region 434 447 N/A INTRINSIC
low complexity region 457 473 N/A INTRINSIC
HOX 489 551 2.25e-11 SMART
HOX 608 669 2.04e-9 SMART
low complexity region 677 690 N/A INTRINSIC
HOX 759 821 7.49e-8 SMART
Pfam:Homez 841 888 1.3e-17 PFAM
low complexity region 919 936 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127201
SMART Domains Protein: ENSMUSP00000120488
Gene: ENSMUSG00000035877

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
ZnF_C2H2 77 100 1.86e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133937
Predicted Effect probably benign
Transcript: ENSMUST00000176141
SMART Domains Protein: ENSMUSP00000134763
Gene: ENSMUSG00000035877

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
ZnF_C2H2 77 100 1.86e0 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A T 11: 95,726,625 (GRCm39) D150E probably damaging Het
Akr1c14 T A 13: 4,131,139 (GRCm39) I277N probably damaging Het
Ap1b1 C T 11: 4,969,433 (GRCm39) T263I probably damaging Het
Atp6v0d2 C A 4: 19,878,335 (GRCm39) V313L probably damaging Het
Car2 G A 3: 14,960,688 (GRCm39) probably null Het
Cdh17 T A 4: 11,771,262 (GRCm39) probably benign Het
Cep295 A G 9: 15,234,855 (GRCm39) probably null Het
Cep97 T C 16: 55,750,936 (GRCm39) K27E probably damaging Het
Cops5 A T 1: 10,097,474 (GRCm39) N258K probably damaging Het
Dchs1 T A 7: 105,404,509 (GRCm39) T2678S probably benign Het
Dnah10 T A 5: 124,832,850 (GRCm39) F861Y probably benign Het
Dock10 T C 1: 80,503,990 (GRCm39) E1777G probably damaging Het
Dock5 G A 14: 68,118,708 (GRCm39) Q23* probably null Het
Ermp1 T C 19: 29,593,236 (GRCm39) K752R probably benign Het
Fhip1a A C 3: 85,595,754 (GRCm39) I377S probably damaging Het
Gjd2 T A 2: 113,841,587 (GRCm39) I297L probably benign Het
Gm1123 T C 9: 98,905,307 (GRCm39) M68V probably benign Het
Gm28372 C T 2: 130,248,818 (GRCm39) R59W probably damaging Het
Gm9912 A C 3: 148,891,074 (GRCm39) F20V unknown Het
Gpat2 T C 2: 127,272,816 (GRCm39) F176S possibly damaging Het
Gpr150 T C 13: 76,203,784 (GRCm39) H387R possibly damaging Het
Gpr20 T A 15: 73,568,269 (GRCm39) D40V probably damaging Het
Hrob T C 11: 102,146,422 (GRCm39) C233R probably benign Het
Jakmip3 A T 7: 138,622,633 (GRCm39) Q331L probably damaging Het
Kif5b A G 18: 6,225,647 (GRCm39) V179A probably damaging Het
Kif5b A T 18: 6,211,019 (GRCm39) probably benign Het
Krt14 A T 11: 100,095,242 (GRCm39) probably benign Het
L3mbtl3 A G 10: 26,207,798 (GRCm39) F307S unknown Het
Laptm4a T C 12: 8,984,687 (GRCm39) probably benign Het
Marveld3 T C 8: 110,674,719 (GRCm39) S366G possibly damaging Het
Mga C A 2: 119,781,676 (GRCm39) T2234K possibly damaging Het
Mkrn2os T C 6: 115,569,292 (GRCm39) N54S probably benign Het
Mras T C 9: 99,293,548 (GRCm39) I31V probably damaging Het
Myh1 A G 11: 67,110,732 (GRCm39) D1518G probably damaging Het
Myoz2 A T 3: 122,807,430 (GRCm39) Y127N possibly damaging Het
Nhlrc1 C A 13: 47,167,438 (GRCm39) W273L probably benign Het
Nol9 C T 4: 152,130,500 (GRCm39) probably benign Het
Nrxn2 T C 19: 6,559,959 (GRCm39) V1206A probably damaging Het
Or2ag1b T C 7: 106,288,540 (GRCm39) T133A probably benign Het
Or5k16 A T 16: 58,736,291 (GRCm39) F238I probably damaging Het
Or6c5 T A 10: 129,074,941 (GRCm39) F308I probably benign Het
Or6f2 T C 7: 139,756,447 (GRCm39) I138T probably benign Het
Or8g2b T A 9: 39,750,907 (GRCm39) M59K probably damaging Het
Pappa T C 4: 65,123,395 (GRCm39) probably null Het
Pfkl A G 10: 77,836,565 (GRCm39) S151P probably damaging Het
Pgbd5 C T 8: 125,111,118 (GRCm39) G191D probably damaging Het
Pikfyve T C 1: 65,292,512 (GRCm39) V1276A probably benign Het
Pla2g4c T A 7: 13,082,241 (GRCm39) Y486N probably damaging Het
Rasal2 C A 1: 157,003,502 (GRCm39) V386L probably benign Het
S1pr3 G A 13: 51,573,548 (GRCm39) R243Q probably damaging Het
Slc44a4 A G 17: 35,140,219 (GRCm39) D208G probably benign Het
Slc6a4 T C 11: 76,904,114 (GRCm39) S190P probably damaging Het
Snapc5 A T 9: 64,087,779 (GRCm39) probably null Het
Tbc1d14 C A 5: 36,728,913 (GRCm39) R151L probably damaging Het
Tecpr2 T A 12: 110,897,826 (GRCm39) probably benign Het
Tmem219 G A 7: 126,496,310 (GRCm39) P44L probably damaging Het
Ube2e1 T C 14: 18,330,951 (GRCm38) R51G probably null Het
Ugp2 T C 11: 21,303,447 (GRCm39) K53E probably benign Het
Vmn1r214 T C 13: 23,218,662 (GRCm39) I52T probably benign Het
Vmn2r124 C T 17: 18,284,330 (GRCm39) T457I probably benign Het
Vps13b A G 15: 35,878,935 (GRCm39) E2978G probably damaging Het
Zfr A G 15: 12,159,741 (GRCm39) D679G probably damaging Het
Other mutations in Zhx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00530:Zhx3 APN 2 160,622,761 (GRCm39) missense probably damaging 0.99
IGL02170:Zhx3 APN 2 160,621,718 (GRCm39) missense probably damaging 1.00
IGL02550:Zhx3 APN 2 160,623,216 (GRCm39) missense probably damaging 1.00
R0497:Zhx3 UTSW 2 160,621,914 (GRCm39) nonsense probably null
R0882:Zhx3 UTSW 2 160,622,629 (GRCm39) missense probably damaging 1.00
R1396:Zhx3 UTSW 2 160,622,940 (GRCm39) missense possibly damaging 0.90
R1587:Zhx3 UTSW 2 160,623,613 (GRCm39) splice site probably null
R1646:Zhx3 UTSW 2 160,623,195 (GRCm39) missense probably damaging 1.00
R1822:Zhx3 UTSW 2 160,622,275 (GRCm39) missense probably benign 0.03
R2322:Zhx3 UTSW 2 160,623,948 (GRCm39) missense probably damaging 1.00
R3791:Zhx3 UTSW 2 160,622,368 (GRCm39) missense possibly damaging 0.94
R3899:Zhx3 UTSW 2 160,622,371 (GRCm39) missense possibly damaging 0.82
R4003:Zhx3 UTSW 2 160,622,809 (GRCm39) missense probably damaging 0.96
R4619:Zhx3 UTSW 2 160,623,879 (GRCm39) missense probably damaging 0.96
R5307:Zhx3 UTSW 2 160,621,788 (GRCm39) missense probably benign 0.02
R5461:Zhx3 UTSW 2 160,621,938 (GRCm39) missense probably benign
R5648:Zhx3 UTSW 2 160,623,881 (GRCm39) missense probably damaging 1.00
R5952:Zhx3 UTSW 2 160,623,937 (GRCm39) missense probably damaging 1.00
R6035:Zhx3 UTSW 2 160,621,463 (GRCm39) missense probably benign
R6035:Zhx3 UTSW 2 160,621,463 (GRCm39) missense probably benign
R6734:Zhx3 UTSW 2 160,623,640 (GRCm39) missense probably damaging 0.99
R6988:Zhx3 UTSW 2 160,621,788 (GRCm39) missense probably benign 0.02
R7032:Zhx3 UTSW 2 160,622,898 (GRCm39) missense probably damaging 1.00
R7288:Zhx3 UTSW 2 160,623,042 (GRCm39) missense probably damaging 1.00
R7348:Zhx3 UTSW 2 160,624,038 (GRCm39) nonsense probably null
R7947:Zhx3 UTSW 2 160,623,015 (GRCm39) missense probably damaging 1.00
R8101:Zhx3 UTSW 2 160,623,619 (GRCm39) missense probably damaging 0.99
R8152:Zhx3 UTSW 2 160,622,695 (GRCm39) missense probably benign
R8831:Zhx3 UTSW 2 160,622,691 (GRCm39) missense probably benign 0.05
R8886:Zhx3 UTSW 2 160,623,216 (GRCm39) missense probably damaging 1.00
R9310:Zhx3 UTSW 2 160,621,393 (GRCm39) missense possibly damaging 0.94
R9363:Zhx3 UTSW 2 160,621,785 (GRCm39) missense probably benign 0.00
R9422:Zhx3 UTSW 2 160,624,020 (GRCm39) missense probably benign 0.00
R9687:Zhx3 UTSW 2 160,623,678 (GRCm39) missense probably benign 0.01
RF002:Zhx3 UTSW 2 160,623,726 (GRCm39) missense probably damaging 0.98
Z1088:Zhx3 UTSW 2 160,621,675 (GRCm39) unclassified probably benign
Z1176:Zhx3 UTSW 2 160,622,980 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04