Incidental Mutation 'R7273:Zhx2'
ID |
565420 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx2
|
Ensembl Gene |
ENSMUSG00000071757 |
Gene Name |
zinc fingers and homeoboxes 2 |
Synonyms |
Afr-1, Raf, Afr1 |
MMRRC Submission |
045357-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R7273 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 57686824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 731
(A731V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096430
AA Change: A731V
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: A731V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (49/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol10a |
A |
T |
15: 77,373,068 (GRCm39) |
I235F |
probably damaging |
Het |
Aspn |
A |
T |
13: 49,712,352 (GRCm39) |
E222D |
probably benign |
Het |
Cfap221 |
A |
T |
1: 119,881,948 (GRCm39) |
V280D |
possibly damaging |
Het |
Chrd |
G |
A |
16: 20,560,316 (GRCm39) |
R922Q |
probably benign |
Het |
Cnga4 |
T |
A |
7: 105,056,172 (GRCm39) |
V361E |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,284,467 (GRCm39) |
|
probably null |
Het |
Col6a4 |
A |
G |
9: 105,877,656 (GRCm39) |
V2107A |
possibly damaging |
Het |
Eea1 |
G |
T |
10: 95,825,493 (GRCm39) |
V63F |
probably benign |
Het |
Eml1 |
A |
G |
12: 108,504,432 (GRCm39) |
H797R |
possibly damaging |
Het |
Il1r2 |
A |
G |
1: 40,151,167 (GRCm39) |
T141A |
probably benign |
Het |
Il6st |
T |
C |
13: 112,631,832 (GRCm39) |
V457A |
probably benign |
Het |
Kif19b |
T |
A |
5: 140,461,767 (GRCm39) |
V523E |
probably damaging |
Het |
Lrrc56 |
T |
C |
7: 140,789,578 (GRCm39) |
C532R |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,721,749 (GRCm39) |
S23G |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,125,148 (GRCm39) |
D498E |
probably benign |
Het |
Mcam |
T |
C |
9: 44,052,241 (GRCm39) |
F584S |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,188,912 (GRCm39) |
D50E |
unknown |
Het |
Mga |
T |
C |
2: 119,765,695 (GRCm39) |
S1320P |
probably damaging |
Het |
Muc5b |
G |
A |
7: 141,405,307 (GRCm39) |
G905D |
unknown |
Het |
Ncor2 |
T |
C |
5: 125,100,687 (GRCm39) |
N1297S |
|
Het |
Nisch |
A |
G |
14: 30,896,364 (GRCm39) |
V946A |
unknown |
Het |
Npc1l1 |
A |
G |
11: 6,168,320 (GRCm39) |
F957S |
probably damaging |
Het |
Nuggc |
A |
G |
14: 65,857,057 (GRCm39) |
N402S |
probably damaging |
Het |
Nup210l |
A |
G |
3: 90,025,854 (GRCm39) |
T159A |
probably benign |
Het |
Or10g6 |
A |
T |
9: 39,933,961 (GRCm39) |
I91F |
probably benign |
Het |
Otud1 |
A |
G |
2: 19,663,873 (GRCm39) |
D334G |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,731,608 (GRCm39) |
V3370A |
unknown |
Het |
Prdm16 |
A |
G |
4: 154,429,910 (GRCm39) |
L353P |
probably damaging |
Het |
Prepl |
A |
C |
17: 85,389,420 (GRCm39) |
V128G |
probably benign |
Het |
Pum1 |
T |
C |
4: 130,478,791 (GRCm39) |
V568A |
probably damaging |
Het |
Rab10 |
G |
T |
12: 3,306,891 (GRCm39) |
S101R |
probably benign |
Het |
Rfx3 |
C |
T |
19: 27,779,858 (GRCm39) |
R435Q |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,322,582 (GRCm39) |
|
probably null |
Het |
Sema5a |
A |
G |
15: 32,417,608 (GRCm39) |
D26G |
probably benign |
Het |
Slc49a3 |
T |
C |
5: 108,589,857 (GRCm39) |
D515G |
probably benign |
Het |
Spata31d1b |
G |
A |
13: 59,865,446 (GRCm39) |
V865I |
probably benign |
Het |
Sycp3 |
A |
T |
10: 88,305,428 (GRCm39) |
Q176H |
probably damaging |
Het |
Tdpoz8 |
G |
T |
3: 92,981,475 (GRCm39) |
M90I |
probably damaging |
Het |
Tmprss11d |
A |
T |
5: 86,485,098 (GRCm39) |
V102D |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,535,931 (GRCm39) |
V457A |
probably benign |
Het |
Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
Ubr3 |
G |
A |
2: 69,809,677 (GRCm39) |
D1217N |
probably damaging |
Het |
Uggt1 |
A |
G |
1: 36,201,302 (GRCm39) |
I1146T |
probably damaging |
Het |
Umod |
T |
C |
7: 119,076,250 (GRCm39) |
Q172R |
probably benign |
Het |
Uqcc5 |
G |
T |
14: 30,846,555 (GRCm39) |
R55S |
probably damaging |
Het |
Zdbf2 |
C |
T |
1: 63,342,563 (GRCm39) |
A314V |
possibly damaging |
Het |
Zfp787 |
A |
T |
7: 6,136,039 (GRCm39) |
C71S |
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 |
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 |
|
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'- ATCAGTTAGCTGCCAAGACCG -3'
(R):5'- AAAGTCCACGATGCCTGACTC -3'
Sequencing Primer
(F):5'- TCCGAACTGAGATTGTGCGC -3'
(R):5'- ACGATGCCTGACTCCTCGTTC -3'
|
Posted On |
2019-06-26 |