Incidental Mutation 'IGL03050:Zhx2'
ID |
453446 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx2
|
Ensembl Gene |
ENSMUSG00000071757 |
Gene Name |
zinc fingers and homeoboxes 2 |
Synonyms |
Afr-1, Raf, Afr1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.223)
|
Stock # |
IGL03050 (G1)
|
Quality Score |
176 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57686229 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 533
(F533L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096430
AA Change: F533L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: F533L
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
|
Meta Mutation Damage Score |
0.0677 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
95% (41/43) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Ankrd2 |
G |
A |
19: 42,028,533 (GRCm39) |
R63H |
probably damaging |
Het |
Bbs2 |
C |
A |
8: 94,801,041 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
G |
T |
12: 102,779,065 (GRCm39) |
D400E |
probably benign |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Col17a1 |
C |
T |
19: 47,636,537 (GRCm39) |
|
probably null |
Het |
Col3a1 |
A |
G |
1: 45,368,085 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Dpp8 |
C |
G |
9: 64,962,118 (GRCm39) |
S386C |
probably benign |
Het |
Dscaml1 |
A |
C |
9: 45,654,297 (GRCm39) |
D1443A |
probably damaging |
Het |
Dsp |
T |
C |
13: 38,372,421 (GRCm39) |
|
probably benign |
Het |
Elf2 |
C |
T |
3: 51,165,038 (GRCm39) |
R262Q |
probably benign |
Het |
Fat3 |
G |
A |
9: 15,907,896 (GRCm39) |
S2702F |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gabrb1 |
T |
A |
5: 72,279,497 (GRCm39) |
S347R |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,309,604 (GRCm39) |
S615P |
probably benign |
Het |
Kcnq3 |
T |
C |
15: 65,897,027 (GRCm39) |
D291G |
possibly damaging |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Mirt1 |
A |
G |
19: 53,433,710 (GRCm39) |
|
noncoding transcript |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mug1 |
T |
A |
6: 121,857,530 (GRCm39) |
S1085T |
possibly damaging |
Het |
Myo18a |
A |
T |
11: 77,709,596 (GRCm39) |
T190S |
probably benign |
Het |
Myo5a |
G |
A |
9: 75,054,191 (GRCm39) |
|
probably null |
Het |
Or1ak2 |
T |
A |
2: 36,827,635 (GRCm39) |
F168Y |
probably damaging |
Het |
Or1l8 |
A |
T |
2: 36,817,820 (GRCm39) |
M102K |
probably damaging |
Het |
Or1m1 |
A |
T |
9: 18,666,750 (GRCm39) |
Y60* |
probably null |
Het |
Or5an1 |
G |
T |
19: 12,260,876 (GRCm39) |
V155L |
probably benign |
Het |
Or9g3 |
A |
G |
2: 85,589,785 (GRCm39) |
*312Q |
probably null |
Het |
Relch |
T |
A |
1: 105,654,106 (GRCm39) |
V825E |
probably damaging |
Het |
Rgma |
G |
A |
7: 73,067,263 (GRCm39) |
V173M |
probably damaging |
Het |
Rgsl1 |
G |
A |
1: 153,701,422 (GRCm39) |
S379F |
possibly damaging |
Het |
Sec16a |
T |
A |
2: 26,305,759 (GRCm39) |
D2215V |
probably damaging |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
Ttyh2 |
T |
A |
11: 114,599,680 (GRCm39) |
L370Q |
probably damaging |
Het |
Ugt8a |
T |
C |
3: 125,669,139 (GRCm39) |
R322G |
possibly damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,167,900 (GRCm39) |
M718T |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCAAGGCAAGCTTCTTACAGAG -3'
(R):5'- TGCTCCATGCTGTCTCGAAG -3'
Sequencing Primer
(F):5'- GCAAGCTTCTTACAGAGCCAGTTC -3'
(R):5'- AAGCTTCCGCCTCTCTGAGAAC -3'
|
Posted On |
2017-02-08 |