Incidental Mutation 'IGL00419:Zhx1'
ID |
5840 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zhx1
|
Ensembl Gene |
ENSMUSG00000022361 |
Gene Name |
zinc fingers and homeoboxes 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00419
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57916711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 512
(F512L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070143]
[ENSMUST00000110168]
[ENSMUST00000175805]
[ENSMUST00000176076]
[ENSMUST00000176935]
[ENSMUST00000177176]
[ENSMUST00000177276]
[ENSMUST00000177504]
|
AlphaFold |
P70121 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070143
AA Change: F512L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000066201 Gene: ENSMUSG00000022361 AA Change: F512L
Domain | Start | End | E-Value | Type |
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: F512L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105797 Gene: ENSMUSG00000022361 AA Change: F512L
Domain | Start | End | E-Value | Type |
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: F512L
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134844 Gene: ENSMUSG00000022361 AA Change: F512L
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177176
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177276
AA Change: F512L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135230 Gene: ENSMUSG00000022361 AA Change: F512L
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp1a4 |
A |
C |
1: 172,067,373 (GRCm39) |
N586K |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,686,027 (GRCm39) |
M201T |
probably benign |
Het |
Bcap29 |
A |
T |
12: 31,680,871 (GRCm39) |
F38L |
probably benign |
Het |
Bdkrb2 |
A |
G |
12: 105,554,562 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
G |
T |
7: 17,493,481 (GRCm39) |
E835* |
probably null |
Het |
Cenpp |
T |
C |
13: 49,801,132 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,804,574 (GRCm39) |
V51A |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,313,951 (GRCm39) |
N1660D |
probably damaging |
Het |
Exosc9 |
T |
C |
3: 36,607,288 (GRCm39) |
|
probably benign |
Het |
Ezh1 |
T |
C |
11: 101,085,332 (GRCm39) |
|
probably null |
Het |
Fbxo24 |
G |
A |
5: 137,622,563 (GRCm39) |
R68C |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,241,943 (GRCm39) |
I205V |
probably benign |
Het |
Gpc5 |
A |
G |
14: 115,607,436 (GRCm39) |
Y346C |
probably damaging |
Het |
Hectd1 |
A |
G |
12: 51,810,818 (GRCm39) |
Y1706H |
probably damaging |
Het |
Igsf9b |
A |
G |
9: 27,230,951 (GRCm39) |
Y318C |
probably damaging |
Het |
Map1a |
A |
T |
2: 121,129,508 (GRCm39) |
Q182L |
probably damaging |
Het |
Rab11fip3 |
A |
T |
17: 26,210,783 (GRCm39) |
|
probably benign |
Het |
Rbm20 |
G |
A |
19: 53,831,695 (GRCm39) |
R643Q |
probably damaging |
Het |
Ros1 |
A |
T |
10: 51,967,150 (GRCm39) |
C1707S |
probably damaging |
Het |
Rpgrip1l |
G |
T |
8: 91,990,202 (GRCm39) |
R747S |
possibly damaging |
Het |
Rsph10b |
T |
C |
5: 143,873,905 (GRCm39) |
*166R |
probably null |
Het |
Sft2d1 |
G |
A |
17: 8,539,437 (GRCm39) |
C80Y |
possibly damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,802,959 (GRCm39) |
|
probably benign |
Het |
Zfp300 |
T |
A |
X: 20,948,531 (GRCm39) |
Y411F |
probably damaging |
Het |
Zfp92 |
T |
C |
X: 72,463,764 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Zhx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2012-04-20 |