Incidental Mutation 'R0800:Zhx2'
ID |
76252 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx2
|
Ensembl Gene |
ENSMUSG00000071757 |
Gene Name |
zinc fingers and homeoboxes 2 |
Synonyms |
Afr-1, Raf, Afr1 |
MMRRC Submission |
038980-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R0800 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57558063-57703228 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 57686124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 498
(I498L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096430]
|
AlphaFold |
Q8C0C0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096430
AA Change: I498L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000094164 Gene: ENSMUSG00000071757 AA Change: I498L
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 |
0.1199 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
98% (52/53) |
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 |
B230217C12Rik |
T |
C |
11: 97,732,086 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,317,265 (GRCm39) |
D1498G |
probably damaging |
Het |
Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,440,614 (GRCm39) |
Y158C |
probably damaging |
Het |
Cic |
A |
G |
7: 24,984,662 (GRCm39) |
T1033A |
probably benign |
Het |
Cst13 |
A |
T |
2: 148,672,247 (GRCm39) |
I141F |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,604,855 (GRCm39) |
L1301P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,923,636 (GRCm39) |
F1201L |
probably benign |
Het |
Dok7 |
T |
C |
5: 35,232,633 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,774,171 (GRCm39) |
|
probably benign |
Het |
Eml6 |
A |
G |
11: 29,699,877 (GRCm39) |
V1753A |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,887,583 (GRCm39) |
F538L |
possibly damaging |
Het |
Fmo2 |
C |
T |
1: 162,704,383 (GRCm39) |
D508N |
probably benign |
Het |
Gabpb1 |
A |
T |
2: 126,472,248 (GRCm39) |
Y351N |
probably damaging |
Het |
Gnaq |
T |
A |
19: 16,312,428 (GRCm39) |
V230E |
probably damaging |
Het |
Gprc5c |
A |
C |
11: 114,757,537 (GRCm39) |
K48Q |
probably damaging |
Het |
Gzmd |
A |
G |
14: 56,369,948 (GRCm39) |
L11P |
unknown |
Het |
Hbq1b |
A |
C |
11: 32,237,581 (GRCm39) |
H123P |
probably damaging |
Het |
Hibadh |
T |
A |
6: 52,533,490 (GRCm39) |
I209F |
probably damaging |
Het |
Il17f |
G |
T |
1: 20,848,177 (GRCm39) |
C100* |
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Itga8 |
A |
T |
2: 12,198,362 (GRCm39) |
V541E |
possibly damaging |
Het |
Kifc5b |
T |
A |
17: 27,142,158 (GRCm39) |
V212D |
probably benign |
Het |
Klra2 |
A |
T |
6: 131,207,137 (GRCm39) |
Y157* |
probably null |
Het |
Kprp |
T |
C |
3: 92,732,342 (GRCm39) |
Y236C |
unknown |
Het |
Mmp12 |
A |
T |
9: 7,357,827 (GRCm39) |
M414L |
possibly damaging |
Het |
Myh6 |
A |
G |
14: 55,190,735 (GRCm39) |
|
probably benign |
Het |
Nlgn2 |
A |
G |
11: 69,716,823 (GRCm39) |
F573L |
possibly damaging |
Het |
Or10j7 |
C |
T |
1: 173,011,627 (GRCm39) |
A125T |
probably damaging |
Het |
Or4c124 |
A |
G |
2: 89,156,008 (GRCm39) |
V172A |
probably benign |
Het |
Pakap |
T |
A |
4: 57,709,650 (GRCm39) |
D198E |
probably benign |
Het |
Papss1 |
T |
A |
3: 131,305,615 (GRCm39) |
|
probably benign |
Het |
Parp4 |
A |
G |
14: 56,827,408 (GRCm39) |
T181A |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,646,486 (GRCm39) |
|
probably benign |
Het |
Pla2g12b |
A |
G |
10: 59,239,642 (GRCm39) |
N17S |
probably benign |
Het |
Polr3c |
C |
A |
3: 96,626,627 (GRCm39) |
V266L |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,527 (GRCm39) |
T408A |
probably damaging |
Het |
Pskh1 |
A |
G |
8: 106,640,238 (GRCm39) |
Y306C |
probably damaging |
Het |
Rom1 |
T |
A |
19: 8,906,272 (GRCm39) |
D89V |
probably damaging |
Het |
Sell |
T |
A |
1: 163,893,770 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,178,249 (GRCm39) |
|
probably null |
Het |
Speg |
T |
C |
1: 75,400,133 (GRCm39) |
S2527P |
probably damaging |
Het |
Stat3 |
A |
G |
11: 100,784,981 (GRCm39) |
|
probably benign |
Het |
Stra6l |
A |
G |
4: 45,882,797 (GRCm39) |
T503A |
probably benign |
Het |
Tapbp |
A |
G |
17: 34,145,227 (GRCm39) |
T375A |
probably benign |
Het |
Tgm6 |
G |
A |
2: 129,985,342 (GRCm39) |
V382M |
possibly damaging |
Het |
Trappc9 |
A |
T |
15: 72,824,981 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,675,240 (GRCm39) |
N131S |
possibly damaging |
Het |
Usp19 |
A |
G |
9: 108,372,353 (GRCm39) |
E469G |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,575,192 (GRCm39) |
|
probably benign |
Het |
Zfp750 |
T |
C |
11: 121,402,838 (GRCm39) |
T637A |
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 |
|
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'- AAGAGACCTCTGGTGACTCCTCAAG -3'
(R):5'- TGGAATCCAACACAGCCTGCTC -3'
Sequencing Primer
(F):5'- TCCACACATTGCCCAGGTG -3'
(R):5'- TCTCTGAGAACCAGGAGTCG -3'
|
Posted On |
2013-10-16 |