Incidental Mutation 'R9742:Zhx2'
| ID |
731891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx2
|
| Ensembl Gene |
ENSMUSG00000071757 |
| Gene Name |
zinc fingers and homeoboxes 2 |
| Synonyms |
Afr-1, Raf, Afr1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R9742 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57686806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 725
(E725G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
| AlphaFold |
Q8C0C0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096430
AA Change: E725G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000094164
Gene: ENSMUSG00000071757
AA Change: E725G
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.1%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
G |
7: 78,749,115 (GRCm39) |
S1295R |
probably benign |
Het |
| Acsf2 |
C |
A |
11: 94,463,963 (GRCm39) |
V74L |
probably benign |
Het |
| Actrt3 |
T |
C |
3: 30,652,434 (GRCm39) |
Y220C |
probably damaging |
Het |
| Adgrl2 |
A |
G |
3: 148,541,986 (GRCm39) |
|
probably null |
Het |
| Ak2 |
T |
A |
4: 128,901,961 (GRCm39) |
D211E |
possibly damaging |
Het |
| Atp4b |
G |
A |
8: 13,440,097 (GRCm39) |
T83I |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,912 (GRCm39) |
T722A |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,943,840 (GRCm39) |
Y1557C |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,231,935 (GRCm39) |
D1051G |
possibly damaging |
Het |
| Cuedc2 |
A |
G |
19: 46,319,727 (GRCm39) |
|
probably null |
Het |
| Dtnb |
A |
T |
12: 3,736,740 (GRCm39) |
K293N |
possibly damaging |
Het |
| Dusp26 |
A |
T |
8: 31,584,198 (GRCm39) |
T102S |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,024,170 (GRCm39) |
L1079H |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,026,065 (GRCm39) |
Y459C |
probably damaging |
Het |
| Fam89b |
A |
T |
19: 5,779,330 (GRCm39) |
S76T |
probably benign |
Het |
| Fbxo33 |
A |
G |
12: 59,251,682 (GRCm39) |
S278P |
probably damaging |
Het |
| Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
| Khdc1c |
T |
G |
1: 21,439,945 (GRCm39) |
H165Q |
probably benign |
Het |
| Ldb1 |
A |
G |
19: 46,023,858 (GRCm39) |
|
probably null |
Het |
| Lrrc27 |
C |
T |
7: 138,806,229 (GRCm39) |
A298V |
probably benign |
Het |
| Lsr |
CTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTC |
7: 30,657,492 (GRCm39) |
|
probably benign |
Het |
| Mpi |
A |
G |
9: 57,452,606 (GRCm39) |
C309R |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,901,180 (GRCm39) |
A472V |
possibly damaging |
Het |
| Mtcl3 |
C |
A |
10: 29,024,394 (GRCm39) |
Q437K |
probably benign |
Het |
| Muc17 |
A |
G |
5: 137,167,127 (GRCm39) |
Y276H |
|
Het |
| Myh6 |
T |
A |
14: 55,194,056 (GRCm39) |
M778L |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,553,338 (GRCm39) |
E258V |
probably damaging |
Het |
| Or10ag53 |
T |
C |
2: 87,082,376 (GRCm39) |
F32L |
probably benign |
Het |
| Or5b108 |
T |
C |
19: 13,168,769 (GRCm39) |
V246A |
probably damaging |
Het |
| Pik3c2b |
A |
G |
1: 133,022,487 (GRCm39) |
E1143G |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,082,912 (GRCm39) |
D579N |
probably damaging |
Het |
| Slc22a19 |
T |
C |
19: 7,688,281 (GRCm39) |
Q93R |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,400,616 (GRCm39) |
I742N |
probably damaging |
Het |
| Smarcc2 |
A |
G |
10: 128,297,222 (GRCm39) |
Y38C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,515,268 (GRCm39) |
T253A |
probably damaging |
Het |
| Trim40 |
A |
G |
17: 37,199,902 (GRCm39) |
S59P |
possibly damaging |
Het |
| Trpm6 |
G |
T |
19: 18,800,766 (GRCm39) |
V827L |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,156,792 (GRCm39) |
|
probably null |
Het |
| Vmn2r118 |
T |
C |
17: 55,918,009 (GRCm39) |
T168A |
probably damaging |
Het |
| Wdfy4 |
G |
A |
14: 32,809,987 (GRCm39) |
H1745Y |
|
Het |
| Xrra1 |
A |
G |
7: 99,563,660 (GRCm39) |
D549G |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,749,179 (GRCm39) |
R889H |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATCAGTTAGCTGCCAAGACC -3'
(R):5'- AAGTCCACGATGCCTGACTC -3'
Sequencing Primer
(F):5'- CGGCCTGGTCCGAACTGAG -3'
(R):5'- ACGATGCCTGACTCCTCGTTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation