Incidental Mutation 'IGL00159:Zhx2'
ID |
922 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Zhx2
|
Ensembl Gene |
ENSMUSG00000071757 |
Gene Name |
zinc fingers and homeoboxes 2 |
Synonyms |
Afr-1, Raf, Afr1 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
IGL00159
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57686266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 545
(E545V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096430
AA Change: E545V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: E545V
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
78 |
101 |
1.79e-2 |
SMART |
ZnF_C2H2
|
110 |
133 |
1.99e0 |
SMART |
low complexity region
|
191 |
209 |
N/A |
INTRINSIC |
HOX
|
263 |
324 |
2.11e-3 |
SMART |
HOX
|
439 |
501 |
4.94e-8 |
SMART |
HOX
|
530 |
591 |
2.8e-7 |
SMART |
HOX
|
628 |
690 |
3.09e-9 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160990
|
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 2 of this gene family. In addition to forming homodimers, this protein heterodimerizes with member 1 of the zinc fingers and homeoboxes family. [provided by RefSeq, Jul 2008] PHENOTYPE: Alpha-fetoprotein levels in plasma decline precipitously after birth. This gene regulates a difference in adult level and rate of neonatal decrease of AFP. The BALB/cJ substrain carries a genetic variant allele determining a slow rate of decline to adultlevel. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Axin1 |
A |
T |
17: 26,361,779 (GRCm39) |
D41V |
possibly damaging |
Het |
BC034090 |
C |
A |
1: 155,101,197 (GRCm39) |
E718* |
probably null |
Het |
Cdc123 |
G |
T |
2: 5,809,746 (GRCm39) |
Q222K |
probably benign |
Het |
Clip1 |
A |
C |
5: 123,741,717 (GRCm39) |
V1053G |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,952,222 (GRCm39) |
E416V |
probably damaging |
Het |
Dydc1 |
T |
C |
14: 40,809,370 (GRCm39) |
L143P |
probably damaging |
Het |
Dync2h1 |
A |
G |
9: 7,158,839 (GRCm39) |
V732A |
probably benign |
Het |
Dzip1l |
T |
A |
9: 99,519,830 (GRCm39) |
L119Q |
probably damaging |
Het |
Erp27 |
T |
A |
6: 136,886,500 (GRCm39) |
S178C |
probably damaging |
Het |
Fbn1 |
A |
G |
2: 125,239,793 (GRCm39) |
V298A |
probably benign |
Het |
Fbxo34 |
A |
G |
14: 47,766,931 (GRCm39) |
H97R |
probably damaging |
Het |
Gm20521 |
C |
T |
14: 55,122,079 (GRCm39) |
Q81* |
probably null |
Het |
Gspt1 |
T |
C |
16: 11,040,476 (GRCm39) |
M610V |
probably damaging |
Het |
Herc1 |
A |
G |
9: 66,344,964 (GRCm39) |
Q1919R |
possibly damaging |
Het |
Il19 |
A |
G |
1: 130,862,792 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,002 (GRCm39) |
K1309E |
possibly damaging |
Het |
Lurap1 |
T |
C |
4: 115,994,887 (GRCm39) |
T115A |
probably damaging |
Het |
Myo18b |
G |
T |
5: 113,021,997 (GRCm39) |
T465K |
probably benign |
Het |
Nwd1 |
A |
T |
8: 73,397,705 (GRCm39) |
D648V |
probably damaging |
Het |
Or13c25 |
T |
G |
4: 52,911,618 (GRCm39) |
M59L |
possibly damaging |
Het |
Or2at4 |
G |
A |
7: 99,384,524 (GRCm39) |
R58H |
probably benign |
Het |
Otof |
T |
C |
5: 30,533,248 (GRCm39) |
Y1527C |
probably damaging |
Het |
Otop3 |
G |
A |
11: 115,235,223 (GRCm39) |
C285Y |
probably damaging |
Het |
Parp3 |
A |
G |
9: 106,348,586 (GRCm39) |
I478T |
probably benign |
Het |
Pdzd2 |
C |
T |
15: 12,458,069 (GRCm39) |
E265K |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,841,851 (GRCm39) |
L634P |
probably damaging |
Het |
Prkg1 |
C |
A |
19: 31,279,740 (GRCm39) |
V165L |
probably benign |
Het |
Riok3 |
A |
G |
18: 12,281,948 (GRCm39) |
I306V |
possibly damaging |
Het |
Ror2 |
T |
C |
13: 53,267,118 (GRCm39) |
D439G |
probably benign |
Het |
Scn2a |
T |
A |
2: 65,573,434 (GRCm39) |
I1428N |
probably damaging |
Het |
Sgcg |
C |
T |
14: 61,469,924 (GRCm39) |
D146N |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,291,397 (GRCm39) |
|
probably null |
Het |
Slc16a9 |
A |
G |
10: 70,118,529 (GRCm39) |
R283G |
probably benign |
Het |
Sptb |
T |
C |
12: 76,668,105 (GRCm39) |
D664G |
probably benign |
Het |
Tmprss3 |
T |
A |
17: 31,413,982 (GRCm39) |
D54V |
probably damaging |
Het |
Tubd1 |
G |
T |
11: 86,456,555 (GRCm39) |
V374F |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,078,209 (GRCm39) |
M83K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,853,281 (GRCm39) |
E2458G |
probably benign |
Het |
Vps35l |
G |
A |
7: 118,396,270 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Zhx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00694:Zhx2
|
APN |
15 |
57,685,156 (GRCm39) |
missense |
probably benign |
|
IGL02407:Zhx2
|
APN |
15 |
57,686,802 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02456:Zhx2
|
APN |
15 |
57,687,035 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02737:Zhx2
|
APN |
15 |
57,685,663 (GRCm39) |
missense |
probably damaging |
1.00 |
Gross
|
UTSW |
15 |
57,686,124 (GRCm39) |
missense |
probably damaging |
1.00 |
Lange
|
UTSW |
15 |
57,685,572 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03050:Zhx2
|
UTSW |
15 |
57,686,229 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0010:Zhx2
|
UTSW |
15 |
57,684,670 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0105:Zhx2
|
UTSW |
15 |
57,686,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Zhx2
|
UTSW |
15 |
57,685,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R0799:Zhx2
|
UTSW |
15 |
57,684,709 (GRCm39) |
missense |
probably benign |
|
R0800:Zhx2
|
UTSW |
15 |
57,686,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R2273:Zhx2
|
UTSW |
15 |
57,686,565 (GRCm39) |
missense |
probably benign |
0.30 |
R2497:Zhx2
|
UTSW |
15 |
57,686,551 (GRCm39) |
missense |
possibly damaging |
0.48 |
R4198:Zhx2
|
UTSW |
15 |
57,685,125 (GRCm39) |
missense |
probably benign |
|
R4372:Zhx2
|
UTSW |
15 |
57,686,697 (GRCm39) |
missense |
probably benign |
0.02 |
R4992:Zhx2
|
UTSW |
15 |
57,686,983 (GRCm39) |
missense |
probably damaging |
0.96 |
R4994:Zhx2
|
UTSW |
15 |
57,684,755 (GRCm39) |
missense |
probably benign |
0.03 |
R5085:Zhx2
|
UTSW |
15 |
57,686,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5141:Zhx2
|
UTSW |
15 |
57,685,182 (GRCm39) |
missense |
probably benign |
0.00 |
R5470:Zhx2
|
UTSW |
15 |
57,686,470 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5659:Zhx2
|
UTSW |
15 |
57,685,704 (GRCm39) |
missense |
probably benign |
|
R5710:Zhx2
|
UTSW |
15 |
57,684,866 (GRCm39) |
nonsense |
probably null |
|
R6171:Zhx2
|
UTSW |
15 |
57,686,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R7181:Zhx2
|
UTSW |
15 |
57,686,746 (GRCm39) |
missense |
probably benign |
|
R7215:Zhx2
|
UTSW |
15 |
57,687,039 (GRCm39) |
missense |
probably benign |
|
R7273:Zhx2
|
UTSW |
15 |
57,686,824 (GRCm39) |
missense |
probably benign |
0.09 |
R7575:Zhx2
|
UTSW |
15 |
57,686,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R7662:Zhx2
|
UTSW |
15 |
57,685,572 (GRCm39) |
missense |
probably damaging |
1.00 |
R7883:Zhx2
|
UTSW |
15 |
57,685,270 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7966:Zhx2
|
UTSW |
15 |
57,685,063 (GRCm39) |
missense |
probably damaging |
0.99 |
R8824:Zhx2
|
UTSW |
15 |
57,684,676 (GRCm39) |
missense |
probably damaging |
0.96 |
R9111:Zhx2
|
UTSW |
15 |
57,685,984 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Zhx2
|
UTSW |
15 |
57,686,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2011-07-12 |