Incidental Mutation 'IGL02737:Zhx2'
ID |
305693 |
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 # |
IGL02737
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 57685663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 344
(T344N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096430
AA Change: T344N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: T344N
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
A |
2: 68,566,904 (GRCm39) |
H434Q |
possibly damaging |
Het |
5430401F13Rik |
A |
T |
6: 131,529,555 (GRCm39) |
I50L |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,981,957 (GRCm39) |
M1080I |
probably benign |
Het |
Aoc1 |
A |
G |
6: 48,884,577 (GRCm39) |
K540R |
probably benign |
Het |
Aplp2 |
T |
C |
9: 31,064,712 (GRCm39) |
M585V |
probably benign |
Het |
C3 |
A |
G |
17: 57,511,281 (GRCm39) |
L1607P |
probably benign |
Het |
C6 |
A |
G |
15: 4,826,396 (GRCm39) |
K660E |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,549,419 (GRCm39) |
T1329A |
probably benign |
Het |
Ccdc141 |
T |
A |
2: 76,888,268 (GRCm39) |
N499I |
probably damaging |
Het |
Cdh5 |
A |
G |
8: 104,869,560 (GRCm39) |
D762G |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,428,394 (GRCm39) |
R746G |
possibly damaging |
Het |
Cps1 |
A |
T |
1: 67,187,933 (GRCm39) |
Q198L |
probably benign |
Het |
Cstpp1 |
T |
A |
2: 91,135,142 (GRCm39) |
Q9L |
probably damaging |
Het |
Eri3 |
T |
C |
4: 117,422,057 (GRCm39) |
F112L |
probably damaging |
Het |
Fam180a |
C |
A |
6: 35,290,488 (GRCm39) |
R165L |
probably benign |
Het |
Fkbp10 |
A |
C |
11: 100,313,481 (GRCm39) |
I252L |
probably benign |
Het |
Gtf2f1 |
G |
T |
17: 57,310,918 (GRCm39) |
Q410K |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,439,579 (GRCm39) |
Y5535C |
probably damaging |
Het |
Ifrd2 |
T |
A |
9: 107,469,369 (GRCm39) |
D372E |
probably benign |
Het |
Il3ra |
A |
G |
14: 14,350,760 (GRCm38) |
N165S |
probably benign |
Het |
Kntc1 |
A |
G |
5: 123,957,183 (GRCm39) |
N2164S |
probably benign |
Het |
Krtap19-9a |
A |
G |
16: 88,721,099 (GRCm39) |
|
noncoding transcript |
Het |
Nopchap1 |
T |
A |
10: 83,200,309 (GRCm39) |
M90K |
probably damaging |
Het |
Or12d13 |
T |
A |
17: 37,647,664 (GRCm39) |
H153L |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,764,177 (GRCm39) |
S4217P |
unknown |
Het |
Ppfibp1 |
G |
A |
6: 146,928,806 (GRCm39) |
V798I |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,170,775 (GRCm39) |
R165* |
probably null |
Het |
Ptges |
T |
C |
2: 30,782,698 (GRCm39) |
Y118C |
probably damaging |
Het |
Rab11fip5 |
C |
A |
6: 85,325,540 (GRCm39) |
G289W |
probably damaging |
Het |
Rfc1 |
T |
C |
5: 65,468,506 (GRCm39) |
D69G |
possibly damaging |
Het |
Scube1 |
A |
G |
15: 83,606,044 (GRCm39) |
|
probably benign |
Het |
Slc5a6 |
G |
A |
5: 31,194,511 (GRCm39) |
P565L |
probably benign |
Het |
Sncaip |
C |
A |
18: 53,040,128 (GRCm39) |
T774K |
probably benign |
Het |
Spata31f1a |
C |
A |
4: 42,849,431 (GRCm39) |
L908F |
possibly damaging |
Het |
Specc1l |
G |
A |
10: 75,082,158 (GRCm39) |
S535N |
probably damaging |
Het |
Tbk1 |
C |
T |
10: 121,395,767 (GRCm39) |
G442E |
probably null |
Het |
Thoc7 |
A |
T |
14: 13,953,443 (GRCm38) |
M78K |
possibly damaging |
Het |
Usp15 |
A |
G |
10: 122,966,937 (GRCm39) |
F461S |
probably damaging |
Het |
Vmn2r6 |
T |
A |
3: 64,463,911 (GRCm39) |
I308L |
possibly 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 |
IGL02456:Zhx2
|
APN |
15 |
57,687,035 (GRCm39) |
missense |
possibly damaging |
0.72 |
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 |