Incidental Mutation 'IGL00694:Zhx2'
| ID |
15030 |
| 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 # |
IGL00694
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57685156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 175
(N175S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
| AlphaFold |
Q8C0C0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096430
AA Change: N175S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: N175S
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,145,033 (GRCm39) |
|
probably benign |
Het |
| Aqr |
A |
T |
2: 113,982,006 (GRCm39) |
D259E |
probably damaging |
Het |
| Arl14ep |
A |
T |
2: 106,797,537 (GRCm39) |
F153L |
probably damaging |
Het |
| Asb15 |
G |
T |
6: 24,570,663 (GRCm39) |
R547L |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,455,427 (GRCm39) |
V1020G |
probably damaging |
Het |
| Coq2 |
C |
T |
5: 100,803,180 (GRCm39) |
S370N |
probably benign |
Het |
| Crebl2 |
T |
A |
6: 134,826,158 (GRCm39) |
S36R |
probably damaging |
Het |
| Cyp2c29 |
A |
T |
19: 39,310,079 (GRCm39) |
T263S |
possibly damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,562 (GRCm39) |
I190T |
possibly damaging |
Het |
| Fbn2 |
T |
G |
18: 58,170,881 (GRCm39) |
E2170A |
possibly damaging |
Het |
| Gak |
T |
G |
5: 108,761,500 (GRCm39) |
*129C |
probably null |
Het |
| Hc |
T |
C |
2: 34,881,641 (GRCm39) |
I1436V |
probably benign |
Het |
| Kmt2c |
A |
T |
5: 25,498,159 (GRCm39) |
F534I |
probably damaging |
Het |
| Mfhas1 |
G |
A |
8: 36,057,925 (GRCm39) |
R800Q |
probably benign |
Het |
| Npat |
A |
G |
9: 53,474,817 (GRCm39) |
T870A |
probably benign |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Potegl |
A |
T |
2: 23,120,180 (GRCm39) |
Q192L |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,511,204 (GRCm39) |
I127N |
probably damaging |
Het |
| Spag1 |
A |
T |
15: 36,227,317 (GRCm39) |
E658V |
possibly damaging |
Het |
| St3gal2 |
A |
T |
8: 111,696,213 (GRCm39) |
H266L |
probably damaging |
Het |
| Sult6b2 |
A |
G |
6: 142,736,015 (GRCm39) |
I193T |
possibly damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,238 (GRCm39) |
F107L |
probably benign |
Het |
| Thoc1 |
A |
G |
18: 9,989,744 (GRCm39) |
D475G |
possibly damaging |
Het |
| Tpo |
T |
A |
12: 30,155,993 (GRCm39) |
R169S |
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 |
|
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 |
2012-12-06 |
Incidental Mutation