Incidental Mutation 'R5659:Zhx2'
ID |
444001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx2
|
Ensembl Gene |
ENSMUSG00000071757 |
Gene Name |
zinc fingers and homeoboxes 2 |
Synonyms |
Afr-1, Raf, Afr1 |
MMRRC Submission |
043303-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R5659 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 57685704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 358
(S358P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000096430
AA Change: S358P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: S358P
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
T |
C |
18: 36,694,103 (GRCm39) |
S105P |
probably damaging |
Het |
Ano5 |
G |
A |
7: 51,233,562 (GRCm39) |
R658H |
possibly damaging |
Het |
Ap3b2 |
T |
A |
7: 81,126,500 (GRCm39) |
I367F |
probably damaging |
Het |
Apaf1 |
A |
T |
10: 90,898,015 (GRCm39) |
C247* |
probably null |
Het |
Aqp8 |
G |
A |
7: 123,065,889 (GRCm39) |
W228* |
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,093,256 (GRCm39) |
V178D |
probably damaging |
Het |
Atp10b |
T |
A |
11: 43,136,252 (GRCm39) |
W1127R |
probably damaging |
Het |
Bcl6 |
A |
T |
16: 23,787,159 (GRCm39) |
C580* |
probably null |
Het |
Brd1 |
T |
C |
15: 88,597,584 (GRCm39) |
T568A |
probably benign |
Het |
Brsk1 |
C |
T |
7: 4,718,371 (GRCm39) |
P665L |
possibly damaging |
Het |
Cblc |
A |
G |
7: 19,526,857 (GRCm39) |
L125P |
probably damaging |
Het |
Ccdc87 |
T |
C |
19: 4,890,878 (GRCm39) |
S457P |
probably damaging |
Het |
Cxcr5 |
C |
T |
9: 44,424,690 (GRCm39) |
M322I |
probably benign |
Het |
Cyb5r4 |
T |
A |
9: 86,937,881 (GRCm39) |
F300Y |
probably benign |
Het |
Cyp3a25 |
T |
C |
5: 145,928,356 (GRCm39) |
T230A |
possibly damaging |
Het |
Dhx9 |
A |
G |
1: 153,347,481 (GRCm39) |
V409A |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,392,009 (GRCm39) |
D3790G |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,703,257 (GRCm39) |
T27A |
possibly damaging |
Het |
Gipc1 |
A |
T |
8: 84,390,755 (GRCm39) |
M287L |
probably benign |
Het |
Kat6a |
T |
A |
8: 23,428,176 (GRCm39) |
L1177* |
probably null |
Het |
Klhl20 |
A |
G |
1: 160,918,040 (GRCm39) |
V82A |
probably damaging |
Het |
Kmt2e |
T |
C |
5: 23,702,805 (GRCm39) |
I995T |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,590,990 (GRCm39) |
V814E |
probably damaging |
Het |
Luzp1 |
T |
A |
4: 136,269,787 (GRCm39) |
V670D |
probably damaging |
Het |
Lyst |
C |
A |
13: 13,809,212 (GRCm39) |
A294E |
possibly damaging |
Het |
Olr1 |
T |
A |
6: 129,476,992 (GRCm39) |
E91V |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,702,966 (GRCm39) |
I46N |
probably damaging |
Het |
Or2k2 |
A |
T |
4: 58,785,672 (GRCm39) |
F17I |
probably damaging |
Het |
Or8b55 |
C |
T |
9: 38,727,072 (GRCm39) |
T91I |
probably benign |
Het |
Pam |
T |
C |
1: 97,770,024 (GRCm39) |
Y476C |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,225,470 (GRCm39) |
L761P |
probably damaging |
Het |
Phf21b |
C |
T |
15: 84,678,101 (GRCm39) |
W300* |
probably null |
Het |
Pld2 |
T |
C |
11: 70,448,387 (GRCm39) |
*945Q |
probably null |
Het |
Ppp1r37 |
C |
T |
7: 19,269,448 (GRCm39) |
V145M |
probably damaging |
Het |
Rasgrf1 |
T |
A |
9: 89,866,342 (GRCm39) |
N593K |
probably damaging |
Het |
Rhot1 |
T |
G |
11: 80,141,181 (GRCm39) |
|
probably null |
Het |
Rmnd1 |
A |
T |
10: 4,377,382 (GRCm39) |
M99K |
probably benign |
Het |
Ros1 |
G |
A |
10: 52,019,482 (GRCm39) |
T697I |
possibly damaging |
Het |
Scgb1b10 |
G |
T |
7: 31,800,303 (GRCm39) |
A4S |
probably benign |
Het |
Shc3 |
T |
C |
13: 51,670,630 (GRCm39) |
Y39C |
probably damaging |
Het |
Slc25a23 |
A |
G |
17: 57,352,500 (GRCm39) |
|
probably benign |
Het |
Slc5a8 |
C |
T |
10: 88,755,290 (GRCm39) |
L466F |
possibly damaging |
Het |
Sqor |
G |
A |
2: 122,629,523 (GRCm39) |
C127Y |
probably benign |
Het |
Sv2a |
G |
C |
3: 96,097,619 (GRCm39) |
W467S |
possibly damaging |
Het |
Togaram2 |
G |
T |
17: 71,994,667 (GRCm39) |
D39Y |
probably damaging |
Het |
Tspan11 |
T |
A |
6: 127,915,240 (GRCm39) |
|
probably null |
Het |
Usp32 |
A |
G |
11: 84,968,240 (GRCm39) |
V141A |
possibly damaging |
Het |
Zbtb38 |
T |
C |
9: 96,569,473 (GRCm39) |
H537R |
probably damaging |
Het |
Zfat |
T |
C |
15: 67,990,862 (GRCm39) |
Y1008C |
probably damaging |
Het |
Zfp637 |
G |
A |
6: 117,820,291 (GRCm39) |
G3E |
probably damaging |
Het |
Zfp788 |
T |
A |
7: 41,299,540 (GRCm39) |
Y673* |
probably null |
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 |
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'- TGATCAACTCCTTCAACAAGTTCCC -3'
(R):5'- AGCTTGAGGAGTCACCAGAG -3'
Sequencing Primer
(F):5'- TGAGCTCTCCTGGCTGAC -3'
(R):5'- TGAGGAGTCACCAGAGGTCTCTTC -3'
|
Posted On |
2016-11-09 |