Incidental Mutation 'IGL01025:Zhx1'
ID |
60339 |
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 # |
IGL01025
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57918075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 57
(D57G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134844
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070143]
[ENSMUST00000110168]
[ENSMUST00000175805]
[ENSMUST00000176076]
[ENSMUST00000176935]
[ENSMUST00000177176]
[ENSMUST00000177276]
[ENSMUST00000177504]
|
AlphaFold |
P70121 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070143
AA Change: D57G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000066201 Gene: ENSMUSG00000022361 AA Change: D57G
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: ENSMUST00000110168
AA Change: D57G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105797 Gene: ENSMUSG00000022361 AA Change: D57G
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: ENSMUST00000175805
AA Change: D57G
PolyPhen 2
Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000134844 Gene: ENSMUSG00000022361 AA Change: D57G
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 benign
Transcript: ENSMUST00000177276
AA Change: D57G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000135230 Gene: ENSMUSG00000022361 AA Change: D57G
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
G |
A |
4: 155,986,676 (GRCm39) |
V335M |
probably damaging |
Het |
Apex1 |
C |
T |
14: 51,163,711 (GRCm39) |
L113F |
possibly damaging |
Het |
Bltp1 |
T |
A |
3: 37,100,429 (GRCm39) |
H1218Q |
possibly damaging |
Het |
Cd33 |
C |
T |
7: 43,182,329 (GRCm39) |
V39M |
probably damaging |
Het |
Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,874,054 (GRCm39) |
K1376R |
unknown |
Het |
Cpd |
C |
T |
11: 76,686,439 (GRCm39) |
R963H |
probably damaging |
Het |
Cracd |
A |
G |
5: 76,805,921 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
A |
C |
19: 39,628,376 (GRCm39) |
Y189* |
probably null |
Het |
Dock6 |
T |
C |
9: 21,723,103 (GRCm39) |
E1606G |
possibly damaging |
Het |
Dusp4 |
A |
T |
8: 35,285,666 (GRCm39) |
E309V |
probably benign |
Het |
Dync2h1 |
A |
G |
9: 7,162,789 (GRCm39) |
I600T |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,894,105 (GRCm39) |
V66A |
probably benign |
Het |
Fktn |
T |
C |
4: 53,737,568 (GRCm39) |
L269P |
possibly damaging |
Het |
Ftsj3 |
A |
G |
11: 106,141,185 (GRCm39) |
I645T |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,534,713 (GRCm39) |
H198R |
probably damaging |
Het |
Fzd7 |
T |
C |
1: 59,523,539 (GRCm39) |
V474A |
probably damaging |
Het |
Gm10295 |
T |
A |
7: 71,000,406 (GRCm39) |
D58V |
unknown |
Het |
Hdlbp |
T |
C |
1: 93,357,891 (GRCm39) |
I337V |
probably benign |
Het |
Hydin |
T |
C |
8: 111,053,033 (GRCm39) |
V235A |
probably benign |
Het |
Igfbp4 |
C |
T |
11: 98,939,069 (GRCm39) |
H30Y |
probably damaging |
Het |
Kcna4 |
T |
C |
2: 107,126,736 (GRCm39) |
V490A |
probably damaging |
Het |
Kcnj13 |
T |
G |
1: 87,314,700 (GRCm39) |
D174A |
probably benign |
Het |
Krt7 |
T |
A |
15: 101,321,302 (GRCm39) |
L373Q |
probably benign |
Het |
Lama3 |
G |
A |
18: 12,614,094 (GRCm39) |
V1288I |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,875,435 (GRCm39) |
D488G |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,216,994 (GRCm39) |
E1121G |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,384,912 (GRCm39) |
N768D |
probably damaging |
Het |
Naa16 |
T |
C |
14: 79,622,196 (GRCm39) |
T48A |
probably damaging |
Het |
Naglu |
C |
T |
11: 100,964,773 (GRCm39) |
P287S |
probably benign |
Het |
Nipbl |
A |
G |
15: 8,379,939 (GRCm39) |
V951A |
possibly damaging |
Het |
Nlrp3 |
T |
A |
11: 59,442,713 (GRCm39) |
M755K |
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,052,586 (GRCm39) |
|
probably benign |
Het |
Nt5dc1 |
C |
T |
10: 34,283,553 (GRCm39) |
A79T |
possibly damaging |
Het |
Or10aa3 |
T |
C |
1: 173,878,251 (GRCm39) |
F104S |
probably damaging |
Het |
Or6c205 |
A |
T |
10: 129,086,609 (GRCm39) |
I69F |
possibly damaging |
Het |
Or8b47 |
A |
G |
9: 38,435,029 (GRCm39) |
|
probably benign |
Het |
Otof |
A |
G |
5: 30,541,597 (GRCm39) |
L774P |
possibly damaging |
Het |
Phf20l1 |
C |
T |
15: 66,484,981 (GRCm39) |
R322C |
probably damaging |
Het |
Pkhd1 |
C |
T |
1: 20,279,400 (GRCm39) |
G2973R |
probably benign |
Het |
Plekhg5 |
G |
T |
4: 152,192,983 (GRCm39) |
D613Y |
probably damaging |
Het |
Ppm1h |
T |
A |
10: 122,714,534 (GRCm39) |
|
probably null |
Het |
Pramel31 |
T |
A |
4: 144,089,947 (GRCm39) |
L329Q |
probably damaging |
Het |
Prpf39 |
T |
C |
12: 65,089,255 (GRCm39) |
|
probably benign |
Het |
Rtn3 |
A |
G |
19: 7,460,406 (GRCm39) |
S15P |
unknown |
Het |
Slc22a28 |
G |
T |
19: 8,094,272 (GRCm39) |
|
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,239,515 (GRCm39) |
L143Q |
probably damaging |
Het |
Sox17 |
T |
C |
1: 4,562,426 (GRCm39) |
D130G |
possibly damaging |
Het |
Stag1 |
A |
G |
9: 100,833,710 (GRCm39) |
T1108A |
possibly damaging |
Het |
Sugp2 |
G |
A |
8: 70,695,185 (GRCm39) |
D53N |
probably damaging |
Het |
Trim33 |
G |
A |
3: 103,261,234 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,629,568 (GRCm39) |
I14291T |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,619,869 (GRCm39) |
V15933A |
probably damaging |
Het |
Tulp3 |
A |
C |
6: 128,302,847 (GRCm39) |
I324S |
probably damaging |
Het |
Zfhx2 |
T |
C |
14: 55,301,717 (GRCm39) |
E2089G |
probably damaging |
Het |
|
Other mutations in Zhx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
2013-07-11 |