Incidental Mutation 'R1587:Zhx3'
ID |
177548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx3
|
Ensembl Gene |
ENSMUSG00000035877 |
Gene Name |
zinc fingers and homeoboxes 3 |
Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
MMRRC Submission |
039624-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1587 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
Type of Mutation |
splice site (211 bp from exon) |
DNA Base Change (assembly) |
T to C
at 160623613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134763
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
AlphaFold |
Q8C0Q2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103111
AA Change: I185V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099400 Gene: ENSMUSG00000035877 AA Change: I185V
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
HOX
|
300 |
362 |
1.48e-6 |
SMART |
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
HOX
|
489 |
551 |
2.25e-11 |
SMART |
HOX
|
608 |
669 |
2.04e-9 |
SMART |
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
HOX
|
759 |
821 |
7.49e-8 |
SMART |
Pfam:Homez
|
836 |
888 |
5.2e-26 |
PFAM |
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103112
AA Change: I185V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000099401 Gene: ENSMUSG00000035877 AA Change: I185V
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
HOX
|
300 |
362 |
1.48e-6 |
SMART |
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
HOX
|
489 |
551 |
2.25e-11 |
SMART |
HOX
|
608 |
669 |
2.04e-9 |
SMART |
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
HOX
|
759 |
821 |
7.49e-8 |
SMART |
Pfam:Homez
|
836 |
888 |
5.2e-26 |
PFAM |
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109460
AA Change: I185V
PolyPhen 2
Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000105086 Gene: ENSMUSG00000035877 AA Change: I185V
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
HOX
|
300 |
362 |
1.48e-6 |
SMART |
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
HOX
|
489 |
551 |
2.25e-11 |
SMART |
HOX
|
608 |
669 |
2.04e-9 |
SMART |
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
HOX
|
759 |
821 |
7.49e-8 |
SMART |
Pfam:Homez
|
841 |
888 |
1.3e-17 |
PFAM |
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127201
|
SMART Domains |
Protein: ENSMUSP00000120488 Gene: ENSMUSG00000035877
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133937
|
Predicted Effect |
probably null
Transcript: ENSMUST00000176141
|
SMART Domains |
Protein: ENSMUSP00000134763 Gene: ENSMUSG00000035877
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,473,585 (GRCm39) |
S111T |
probably benign |
Het |
Abhd2 |
A |
T |
7: 79,003,758 (GRCm39) |
H279L |
probably benign |
Het |
Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
Agrn |
T |
C |
4: 156,263,897 (GRCm39) |
Q122R |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,230,184 (GRCm39) |
F1218I |
probably damaging |
Het |
Bud13 |
C |
T |
9: 46,201,513 (GRCm39) |
P395S |
probably damaging |
Het |
Ccdc110 |
G |
A |
8: 46,394,783 (GRCm39) |
V225M |
probably benign |
Het |
Ccdc30 |
A |
T |
4: 119,210,373 (GRCm39) |
S248T |
probably damaging |
Het |
Cdh20 |
C |
A |
1: 110,027,757 (GRCm39) |
Q501K |
probably damaging |
Het |
Cwc27 |
T |
C |
13: 104,929,145 (GRCm39) |
D266G |
probably benign |
Het |
Cyp2d40 |
T |
A |
15: 82,645,334 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
T |
G |
4: 115,467,731 (GRCm39) |
N238K |
probably benign |
Het |
Ddx11 |
T |
C |
17: 66,456,251 (GRCm39) |
L770P |
probably damaging |
Het |
Dgcr8 |
C |
T |
16: 18,098,155 (GRCm39) |
G412E |
probably damaging |
Het |
Disp2 |
C |
A |
2: 118,622,064 (GRCm39) |
A932D |
probably damaging |
Het |
Dlg4 |
T |
A |
11: 69,922,572 (GRCm39) |
N291K |
possibly damaging |
Het |
Dnajc7 |
A |
G |
11: 100,492,556 (GRCm39) |
I39T |
probably damaging |
Het |
Elp1 |
G |
A |
4: 56,786,666 (GRCm39) |
Q426* |
probably null |
Het |
Eno3 |
T |
C |
11: 70,552,296 (GRCm39) |
V316A |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,874,768 (GRCm39) |
T944I |
probably benign |
Het |
Ezh2 |
T |
G |
6: 47,529,424 (GRCm39) |
|
probably null |
Het |
F7 |
A |
T |
8: 13,084,783 (GRCm39) |
I270F |
possibly damaging |
Het |
Fancc |
A |
G |
13: 63,488,246 (GRCm39) |
F245L |
probably benign |
Het |
Fzd7 |
G |
A |
1: 59,522,165 (GRCm39) |
C16Y |
possibly damaging |
Het |
Gm29394 |
A |
G |
15: 57,892,008 (GRCm39) |
*200Q |
probably null |
Het |
Ints8 |
A |
G |
4: 11,245,722 (GRCm39) |
|
probably null |
Het |
Krt36 |
A |
T |
11: 99,993,128 (GRCm39) |
I449N |
probably damaging |
Het |
Ldlr |
A |
T |
9: 21,649,209 (GRCm39) |
H328L |
probably damaging |
Het |
Limk2 |
T |
C |
11: 3,303,455 (GRCm39) |
N101S |
possibly damaging |
Het |
Lrp4 |
A |
G |
2: 91,306,650 (GRCm39) |
N321S |
probably benign |
Het |
Mafk |
T |
C |
5: 139,785,900 (GRCm39) |
S33P |
probably damaging |
Het |
Mbtps1 |
T |
C |
8: 120,244,958 (GRCm39) |
Y831C |
probably damaging |
Het |
Mfge8 |
T |
A |
7: 78,784,513 (GRCm39) |
I344F |
probably damaging |
Het |
Myo5b |
T |
C |
18: 74,867,061 (GRCm39) |
V1430A |
probably benign |
Het |
Nbas |
G |
A |
12: 13,608,686 (GRCm39) |
R2154H |
probably benign |
Het |
Nlrp6 |
G |
A |
7: 140,502,959 (GRCm39) |
R355H |
probably damaging |
Het |
Noc4l |
T |
C |
5: 110,800,889 (GRCm39) |
T76A |
probably benign |
Het |
Nrp1 |
T |
A |
8: 129,202,763 (GRCm39) |
C583S |
probably damaging |
Het |
Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
Or5d35 |
T |
A |
2: 87,855,477 (GRCm39) |
M137K |
probably damaging |
Het |
Pgm5 |
T |
A |
19: 24,793,113 (GRCm39) |
I318F |
probably damaging |
Het |
Phf1 |
T |
A |
17: 27,156,466 (GRCm39) |
V536D |
probably damaging |
Het |
Prpf4b |
C |
A |
13: 35,076,133 (GRCm39) |
A641D |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,182,334 (GRCm39) |
I433T |
probably benign |
Het |
Resf1 |
G |
T |
6: 149,228,018 (GRCm39) |
V355F |
probably damaging |
Het |
S100a3 |
G |
A |
3: 90,509,618 (GRCm39) |
E88K |
probably benign |
Het |
Sesn1 |
A |
G |
10: 41,687,108 (GRCm39) |
I31V |
probably benign |
Het |
Son |
T |
A |
16: 91,456,606 (GRCm39) |
S1784R |
probably damaging |
Het |
Srbd1 |
G |
T |
17: 86,292,865 (GRCm39) |
D901E |
probably damaging |
Het |
St8sia6 |
C |
T |
2: 13,677,416 (GRCm39) |
D134N |
possibly damaging |
Het |
Synpo2 |
T |
A |
3: 122,908,047 (GRCm39) |
D423V |
probably damaging |
Het |
Vmn2r108 |
A |
G |
17: 20,692,383 (GRCm39) |
S158P |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,761,002 (GRCm39) |
V785E |
probably damaging |
Het |
Zfp143 |
A |
G |
7: 109,673,275 (GRCm39) |
D124G |
probably benign |
Het |
Zfp251 |
A |
G |
15: 76,754,484 (GRCm39) |
L54P |
probably damaging |
Het |
Zfp324 |
G |
T |
7: 12,704,570 (GRCm39) |
S253I |
possibly damaging |
Het |
Zfp59 |
A |
G |
7: 27,553,559 (GRCm39) |
E337G |
possibly damaging |
Het |
Zfp663 |
G |
T |
2: 165,195,437 (GRCm39) |
Q261K |
probably benign |
Het |
|
Other mutations in Zhx3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00530:Zhx3
|
APN |
2 |
160,622,761 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01759:Zhx3
|
APN |
2 |
160,622,634 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02170:Zhx3
|
APN |
2 |
160,621,718 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Zhx3
|
APN |
2 |
160,623,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R0497:Zhx3
|
UTSW |
2 |
160,621,914 (GRCm39) |
nonsense |
probably null |
|
R0882:Zhx3
|
UTSW |
2 |
160,622,629 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Zhx3
|
UTSW |
2 |
160,622,940 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1646:Zhx3
|
UTSW |
2 |
160,623,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R1822:Zhx3
|
UTSW |
2 |
160,622,275 (GRCm39) |
missense |
probably benign |
0.03 |
R2322:Zhx3
|
UTSW |
2 |
160,623,948 (GRCm39) |
missense |
probably damaging |
1.00 |
R3791:Zhx3
|
UTSW |
2 |
160,622,368 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3899:Zhx3
|
UTSW |
2 |
160,622,371 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4003:Zhx3
|
UTSW |
2 |
160,622,809 (GRCm39) |
missense |
probably damaging |
0.96 |
R4619:Zhx3
|
UTSW |
2 |
160,623,879 (GRCm39) |
missense |
probably damaging |
0.96 |
R5307:Zhx3
|
UTSW |
2 |
160,621,788 (GRCm39) |
missense |
probably benign |
0.02 |
R5461:Zhx3
|
UTSW |
2 |
160,621,938 (GRCm39) |
missense |
probably benign |
|
R5648:Zhx3
|
UTSW |
2 |
160,623,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R5952:Zhx3
|
UTSW |
2 |
160,623,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R6035:Zhx3
|
UTSW |
2 |
160,621,463 (GRCm39) |
missense |
probably benign |
|
R6035:Zhx3
|
UTSW |
2 |
160,621,463 (GRCm39) |
missense |
probably benign |
|
R6734:Zhx3
|
UTSW |
2 |
160,623,640 (GRCm39) |
missense |
probably damaging |
0.99 |
R6988:Zhx3
|
UTSW |
2 |
160,621,788 (GRCm39) |
missense |
probably benign |
0.02 |
R7032:Zhx3
|
UTSW |
2 |
160,622,898 (GRCm39) |
missense |
probably damaging |
1.00 |
R7288:Zhx3
|
UTSW |
2 |
160,623,042 (GRCm39) |
missense |
probably damaging |
1.00 |
R7348:Zhx3
|
UTSW |
2 |
160,624,038 (GRCm39) |
nonsense |
probably null |
|
R7947:Zhx3
|
UTSW |
2 |
160,623,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R8101:Zhx3
|
UTSW |
2 |
160,623,619 (GRCm39) |
missense |
probably damaging |
0.99 |
R8152:Zhx3
|
UTSW |
2 |
160,622,695 (GRCm39) |
missense |
probably benign |
|
R8831:Zhx3
|
UTSW |
2 |
160,622,691 (GRCm39) |
missense |
probably benign |
0.05 |
R8886:Zhx3
|
UTSW |
2 |
160,623,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Zhx3
|
UTSW |
2 |
160,621,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9363:Zhx3
|
UTSW |
2 |
160,621,785 (GRCm39) |
missense |
probably benign |
0.00 |
R9422:Zhx3
|
UTSW |
2 |
160,624,020 (GRCm39) |
missense |
probably benign |
0.00 |
R9687:Zhx3
|
UTSW |
2 |
160,623,678 (GRCm39) |
missense |
probably benign |
0.01 |
RF002:Zhx3
|
UTSW |
2 |
160,623,726 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1088:Zhx3
|
UTSW |
2 |
160,621,675 (GRCm39) |
unclassified |
probably benign |
|
Z1176:Zhx3
|
UTSW |
2 |
160,622,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCAAGACAGGCACTGTTCCTATC -3'
(R):5'- CCCTGCATAATGCCAAGTGTCACTC -3'
Sequencing Primer
(F):5'- CCATTGGCAGCAGGAGG -3'
(R):5'- TCACTCAGGGGAAGCCAG -3'
|
Posted On |
2014-04-24 |