Incidental Mutation 'IGL00530:Zhx3'
ID 15031
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 # IGL00530
Quality Score
Status
Chromosome 2
Chromosomal Location 160612367-160714910 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 160622761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 469 (N469Y)
Ref Sequence ENSEMBL: ENSMUSP00000105086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103111] [ENSMUST00000103112] [ENSMUST00000109460] [ENSMUST00000127201] [ENSMUST00000176141]
AlphaFold Q8C0Q2
Predicted Effect probably damaging
Transcript: ENSMUST00000103111
AA Change: N469Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: N469Y

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: N469Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: N469Y

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: ENSMUST00000109460
AA Change: N469Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: N469Y

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: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Champ1 C T 8: 13,929,522 (GRCm39) S560L possibly damaging Het
Hecw2 C T 1: 53,892,439 (GRCm39) R1186H probably damaging Het
Hivep1 T C 13: 42,308,125 (GRCm39) S122P probably benign Het
Pcdhb15 T C 18: 37,608,207 (GRCm39) S480P probably damaging Het
Prdm2 G T 4: 142,860,329 (GRCm39) P987H probably damaging Het
Tada2b A T 5: 36,633,417 (GRCm39) I312N probably damaging Het
Utp20 T C 10: 88,661,306 (GRCm39) I34V possibly damaging Het
Zfp616 A T 11: 73,974,439 (GRCm39) D236V probably damaging Het
Other mutations in Zhx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01759:Zhx3 APN 2 160,622,634 (GRCm39) missense probably damaging 1.00
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 2012-12-06