Incidental Mutation 'IGL02456:Zhx2'
ID |
294187 |
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 # |
IGL02456
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57687035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 801
(D801E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096430
AA Change: D801E
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: D801E
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 126,302,584 (GRCm39) |
Y174* |
probably null |
Het |
Apc |
C |
A |
18: 34,446,935 (GRCm39) |
S1243* |
probably null |
Het |
Atp8b5 |
A |
G |
4: 43,365,578 (GRCm39) |
T731A |
probably benign |
Het |
Bcl2a1c |
T |
A |
9: 114,159,458 (GRCm39) |
F79I |
probably damaging |
Het |
Brip1 |
G |
T |
11: 85,955,925 (GRCm39) |
L863I |
possibly damaging |
Het |
Cbx4 |
T |
A |
11: 118,972,938 (GRCm39) |
K146* |
probably null |
Het |
Ces1a |
C |
T |
8: 93,766,126 (GRCm39) |
V163I |
possibly damaging |
Het |
Ces5a |
C |
T |
8: 94,255,272 (GRCm39) |
|
probably benign |
Het |
Cfhr1 |
A |
C |
1: 139,484,131 (GRCm39) |
N128K |
possibly damaging |
Het |
Clcn3 |
T |
C |
8: 61,394,391 (GRCm39) |
D46G |
probably damaging |
Het |
Cntnap1 |
T |
G |
11: 101,068,955 (GRCm39) |
I166S |
probably benign |
Het |
Cntnap3 |
A |
T |
13: 64,946,872 (GRCm39) |
|
probably benign |
Het |
Cntnap5c |
T |
A |
17: 58,714,739 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,430 (GRCm39) |
V626E |
probably damaging |
Het |
Dele1 |
T |
A |
18: 38,394,177 (GRCm39) |
L458Q |
probably damaging |
Het |
Gcm2 |
T |
C |
13: 41,256,477 (GRCm39) |
Y424C |
probably benign |
Het |
Gm9964 |
A |
G |
11: 79,187,196 (GRCm39) |
F84L |
probably damaging |
Het |
Grn |
T |
A |
11: 102,326,930 (GRCm39) |
D509E |
probably benign |
Het |
Iho1 |
G |
T |
9: 108,283,820 (GRCm39) |
T208K |
probably benign |
Het |
Kdm5c |
G |
A |
X: 151,029,314 (GRCm39) |
D343N |
probably damaging |
Het |
Ly75 |
C |
T |
2: 60,124,125 (GRCm39) |
M1717I |
probably benign |
Het |
Map1a |
C |
A |
2: 121,129,134 (GRCm39) |
P133T |
probably damaging |
Het |
Mpp2 |
C |
A |
11: 101,950,199 (GRCm39) |
A552S |
possibly damaging |
Het |
Mtr |
T |
C |
13: 12,213,980 (GRCm39) |
I897M |
probably damaging |
Het |
Npas3 |
A |
T |
12: 54,095,550 (GRCm39) |
I337F |
probably damaging |
Het |
Nup85 |
T |
C |
11: 115,472,691 (GRCm39) |
|
probably benign |
Het |
Or10a49 |
A |
G |
7: 108,468,257 (GRCm39) |
Y35H |
probably benign |
Het |
Or10al2 |
T |
A |
17: 37,983,340 (GRCm39) |
M142K |
possibly damaging |
Het |
Or2t46 |
T |
A |
11: 58,472,024 (GRCm39) |
L118H |
possibly damaging |
Het |
Or51l4 |
T |
A |
7: 103,404,700 (GRCm39) |
I31F |
possibly damaging |
Het |
Or56a5 |
T |
C |
7: 104,792,966 (GRCm39) |
N178S |
probably damaging |
Het |
Pdia4 |
A |
T |
6: 47,780,429 (GRCm39) |
D301E |
probably benign |
Het |
Phf2 |
C |
A |
13: 48,982,322 (GRCm39) |
G134C |
unknown |
Het |
Polr2h |
T |
A |
16: 20,539,352 (GRCm39) |
L76H |
probably damaging |
Het |
Rbm47 |
G |
A |
5: 66,184,364 (GRCm39) |
R80C |
probably damaging |
Het |
Sfmbt1 |
T |
C |
14: 30,507,837 (GRCm39) |
S286P |
probably damaging |
Het |
Slc5a12 |
T |
C |
2: 110,447,179 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
C |
7: 130,227,991 (GRCm39) |
S1559P |
probably benign |
Het |
Tbc1d16 |
T |
G |
11: 119,101,372 (GRCm39) |
H46P |
probably damaging |
Het |
Tbck |
A |
G |
3: 132,440,475 (GRCm39) |
|
probably benign |
Het |
Tmtc4 |
A |
T |
14: 123,163,374 (GRCm39) |
|
probably null |
Het |
Ttc13 |
T |
C |
8: 125,417,100 (GRCm39) |
|
probably null |
Het |
Ttc17 |
T |
C |
2: 94,193,130 (GRCm39) |
|
probably benign |
Het |
Vmn1r121 |
T |
A |
7: 20,832,438 (GRCm39) |
M1L |
possibly damaging |
Het |
Vps13c |
T |
C |
9: 67,860,258 (GRCm39) |
S2825P |
probably damaging |
Het |
Zan |
A |
C |
5: 137,445,106 (GRCm39) |
S1718A |
unknown |
Het |
Zfp39 |
G |
T |
11: 58,793,626 (GRCm39) |
Y37* |
probably null |
Het |
Zfp407 |
T |
C |
18: 84,576,766 (GRCm39) |
N1449S |
probably damaging |
Het |
|
Other mutations in Zhx2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00159:Zhx2
|
APN |
15 |
57,686,266 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00694:Zhx2
|
APN |
15 |
57,685,156 (GRCm39) |
missense |
probably benign |
|
IGL02407:Zhx2
|
APN |
15 |
57,686,802 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2015-04-16 |