Incidental Mutation 'R6171:Zhx2'
ID |
490459 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx2
|
Ensembl Gene |
ENSMUSG00000071757 |
Gene Name |
zinc fingers and homeoboxes 2 |
Synonyms |
Afr-1, Raf, Afr1 |
MMRRC Submission |
044314-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R6171 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57686602 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 657
(E657G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096430
AA Change: E657G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: E657G
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 |
0.5829 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
100% (47/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
Dyrk1b |
A |
T |
7: 27,885,975 (GRCm39) |
|
probably null |
Het |
Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
Kcna1 |
A |
T |
6: 126,619,286 (GRCm39) |
Y345N |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
Nek4 |
T |
C |
14: 30,692,304 (GRCm39) |
V376A |
probably benign |
Het |
Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
Psmd12 |
T |
C |
11: 107,382,733 (GRCm39) |
F213L |
probably damaging |
Het |
Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,016,227 (GRCm39) |
V88E |
probably damaging |
Het |
Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
Zbtb5 |
T |
C |
4: 44,994,119 (GRCm39) |
T422A |
probably benign |
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 |
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 |
|
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'- ACTCCTGGTTCTCAGAGAGG -3'
(R):5'- GCCACCTTTCTTGATACGGC -3'
Sequencing Primer
(F):5'- CTTCGAGACAGCATGGAGC -3'
(R):5'- TCTTGATACGGCATCACGAC -3'
|
Posted On |
2017-10-10 |