Incidental Mutation 'R5124:Zhx1'
ID |
393467 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx1
|
Ensembl Gene |
ENSMUSG00000022361 |
Gene Name |
zinc fingers and homeoboxes 1 |
Synonyms |
|
MMRRC Submission |
042712-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5124 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 57917470 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 259
(G259R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070143]
[ENSMUST00000110168]
[ENSMUST00000175805]
[ENSMUST00000176076]
[ENSMUST00000176935]
[ENSMUST00000177276]
[ENSMUST00000177176]
[ENSMUST00000177504]
|
AlphaFold |
P70121 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070143
AA Change: G259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000066201 Gene: ENSMUSG00000022361 AA Change: G259R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
70 |
93 |
1.07e0 |
SMART |
ZnF_C2H2
|
102 |
125 |
1.23e0 |
SMART |
low complexity region
|
168 |
179 |
N/A |
INTRINSIC |
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
HOX
|
284 |
346 |
1.65e-4 |
SMART |
HOX
|
464 |
526 |
6.93e-12 |
SMART |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
547 |
554 |
N/A |
INTRINSIC |
HOX
|
569 |
630 |
5.01e-4 |
SMART |
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
HOX
|
660 |
722 |
9.8e-12 |
SMART |
low complexity region
|
728 |
765 |
N/A |
INTRINSIC |
HOX
|
777 |
832 |
5.01e-4 |
SMART |
low complexity region
|
833 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110168
AA Change: G259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105797 Gene: ENSMUSG00000022361 AA Change: G259R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
70 |
93 |
1.07e0 |
SMART |
ZnF_C2H2
|
102 |
125 |
1.23e0 |
SMART |
low complexity region
|
168 |
179 |
N/A |
INTRINSIC |
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
HOX
|
284 |
346 |
1.65e-4 |
SMART |
HOX
|
464 |
526 |
6.93e-12 |
SMART |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
547 |
554 |
N/A |
INTRINSIC |
HOX
|
569 |
630 |
5.01e-4 |
SMART |
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
HOX
|
660 |
722 |
9.8e-12 |
SMART |
low complexity region
|
728 |
765 |
N/A |
INTRINSIC |
HOX
|
777 |
832 |
5.01e-4 |
SMART |
low complexity region
|
833 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000175805
AA Change: G259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134844 Gene: ENSMUSG00000022361 AA Change: G259R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
70 |
93 |
1.07e0 |
SMART |
ZnF_C2H2
|
102 |
125 |
1.23e0 |
SMART |
low complexity region
|
168 |
179 |
N/A |
INTRINSIC |
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
HOX
|
284 |
346 |
1.65e-4 |
SMART |
HOX
|
464 |
526 |
6.93e-12 |
SMART |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
547 |
554 |
N/A |
INTRINSIC |
HOX
|
569 |
630 |
5.01e-4 |
SMART |
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
HOX
|
660 |
722 |
9.8e-12 |
SMART |
low complexity region
|
728 |
765 |
N/A |
INTRINSIC |
HOX
|
777 |
832 |
5.01e-4 |
SMART |
low complexity region
|
833 |
859 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176076
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176270
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176935
|
SMART Domains |
Protein: ENSMUSP00000134752 Gene: ENSMUSG00000022362
Domain | Start | End | E-Value | Type |
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000177276
AA Change: G259R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135230 Gene: ENSMUSG00000022361 AA Change: G259R
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
70 |
93 |
1.07e0 |
SMART |
ZnF_C2H2
|
102 |
125 |
1.23e0 |
SMART |
low complexity region
|
168 |
179 |
N/A |
INTRINSIC |
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
HOX
|
284 |
346 |
1.65e-4 |
SMART |
HOX
|
464 |
526 |
6.93e-12 |
SMART |
low complexity region
|
533 |
544 |
N/A |
INTRINSIC |
low complexity region
|
547 |
554 |
N/A |
INTRINSIC |
HOX
|
569 |
623 |
2.77e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177176
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177504
|
SMART Domains |
Protein: ENSMUSP00000135111 Gene: ENSMUSG00000022362
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1460 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
Validation Efficiency |
100% (60/60) |
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 1 of this gene family. In addition to forming homodimers, this protein heterodimerizes with members 2 and 3 of the zinc fingers and homeoboxes family. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream chromosome 8 open reading frame 76 (C8orf76) gene. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
T |
4: 144,401,289 (GRCm39) |
I65N |
probably damaging |
Het |
Adpgk |
A |
G |
9: 59,222,561 (GRCm39) |
D496G |
possibly damaging |
Het |
Agbl4 |
A |
G |
4: 111,513,525 (GRCm39) |
M424V |
probably benign |
Het |
Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
Bpifa3 |
C |
T |
2: 153,980,057 (GRCm39) |
Q230* |
probably null |
Het |
Cog4 |
G |
T |
8: 111,573,825 (GRCm39) |
R48L |
probably damaging |
Het |
Cop1 |
A |
G |
1: 159,105,682 (GRCm39) |
Y33C |
probably damaging |
Het |
Cyp26a1 |
A |
T |
19: 37,689,665 (GRCm39) |
I454L |
probably benign |
Het |
Ddr1 |
T |
C |
17: 35,994,489 (GRCm39) |
H762R |
probably damaging |
Het |
Dnajc2 |
A |
T |
5: 21,968,482 (GRCm39) |
S328T |
probably benign |
Het |
Dppa2 |
G |
T |
16: 48,131,986 (GRCm39) |
V28F |
probably damaging |
Het |
Dusp15 |
T |
A |
2: 152,793,275 (GRCm39) |
M1L |
possibly damaging |
Het |
Eml5 |
G |
A |
12: 98,758,301 (GRCm39) |
T1875M |
probably damaging |
Het |
Fam186a |
A |
G |
15: 99,840,977 (GRCm39) |
S1756P |
possibly damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,866 (GRCm39) |
Q630L |
probably benign |
Het |
H6pd |
A |
G |
4: 150,066,512 (GRCm39) |
S625P |
possibly damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kcnj6 |
G |
T |
16: 94,633,518 (GRCm39) |
P180T |
probably damaging |
Het |
Lpin3 |
T |
A |
2: 160,738,981 (GRCm39) |
M263K |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,331,834 (GRCm39) |
D1640E |
probably damaging |
Het |
Lypd2 |
C |
T |
15: 74,604,347 (GRCm39) |
A74T |
probably benign |
Het |
Map4k1 |
T |
C |
7: 28,688,257 (GRCm39) |
L223P |
probably damaging |
Het |
Myh7 |
A |
T |
14: 55,223,199 (GRCm39) |
Y715* |
probably null |
Het |
Myo9b |
T |
C |
8: 71,808,483 (GRCm39) |
S1697P |
probably damaging |
Het |
Neb |
T |
C |
2: 52,171,510 (GRCm39) |
E1661G |
probably damaging |
Het |
Nek8 |
A |
T |
11: 78,063,765 (GRCm39) |
M80K |
probably damaging |
Het |
Nup188 |
T |
A |
2: 30,220,947 (GRCm39) |
L979Q |
probably damaging |
Het |
Or4c113 |
A |
T |
2: 88,885,431 (GRCm39) |
V113D |
probably damaging |
Het |
P4htm |
T |
A |
9: 108,459,141 (GRCm39) |
S264C |
possibly damaging |
Het |
Pcdha8 |
A |
G |
18: 37,126,768 (GRCm39) |
T417A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,727,406 (GRCm39) |
|
probably benign |
Het |
Prox1 |
T |
A |
1: 189,893,476 (GRCm39) |
N323I |
possibly damaging |
Het |
Prune2 |
A |
T |
19: 17,177,274 (GRCm39) |
R222S |
probably damaging |
Het |
Psmd2 |
C |
A |
16: 20,471,448 (GRCm39) |
R100S |
possibly damaging |
Het |
Qrich2 |
A |
T |
11: 116,337,599 (GRCm39) |
M1963K |
probably damaging |
Het |
Rbm39 |
C |
T |
2: 156,001,082 (GRCm39) |
G324D |
probably damaging |
Het |
Rhobtb1 |
A |
T |
10: 69,105,731 (GRCm39) |
|
probably null |
Het |
Rhov |
G |
T |
2: 119,101,568 (GRCm39) |
P13T |
unknown |
Het |
Sec14l3 |
A |
G |
11: 4,025,209 (GRCm39) |
D273G |
possibly damaging |
Het |
Sirpd |
T |
A |
3: 15,385,639 (GRCm39) |
R88* |
probably null |
Het |
Slco2a1 |
T |
A |
9: 102,927,365 (GRCm39) |
I86N |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,812,235 (GRCm39) |
S19T |
probably benign |
Het |
Stk32a |
T |
C |
18: 43,438,082 (GRCm39) |
S194P |
probably benign |
Het |
Syna |
G |
A |
5: 134,588,424 (GRCm39) |
S175L |
possibly damaging |
Het |
Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
Tmem151b |
T |
C |
17: 45,858,045 (GRCm39) |
Y67C |
probably damaging |
Het |
Tshz1 |
C |
T |
18: 84,033,592 (GRCm39) |
R272Q |
probably damaging |
Het |
Tti1 |
A |
G |
2: 157,850,115 (GRCm39) |
S375P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,873,636 (GRCm39) |
K73E |
probably damaging |
Het |
Vmn1r202 |
C |
T |
13: 22,685,920 (GRCm39) |
V166I |
probably benign |
Het |
Vmn2r10 |
A |
G |
5: 109,154,286 (GRCm39) |
V6A |
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,307,107 (GRCm39) |
D111G |
probably damaging |
Het |
|
Other mutations in Zhx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00419:Zhx1
|
APN |
15 |
57,916,711 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00819:Zhx1
|
APN |
15 |
57,918,090 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01025:Zhx1
|
APN |
15 |
57,918,075 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01867:Zhx1
|
APN |
15 |
57,917,841 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02000:Zhx1
|
APN |
15 |
57,917,683 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02093:Zhx1
|
APN |
15 |
57,916,264 (GRCm39) |
missense |
probably benign |
|
IGL02156:Zhx1
|
APN |
15 |
57,917,445 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02399:Zhx1
|
APN |
15 |
57,917,137 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02479:Zhx1
|
APN |
15 |
57,917,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R0667:Zhx1
|
UTSW |
15 |
57,916,561 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1502:Zhx1
|
UTSW |
15 |
57,917,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Zhx1
|
UTSW |
15 |
57,917,077 (GRCm39) |
missense |
probably damaging |
0.99 |
R3039:Zhx1
|
UTSW |
15 |
57,916,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3401:Zhx1
|
UTSW |
15 |
57,917,745 (GRCm39) |
missense |
probably benign |
0.13 |
R3403:Zhx1
|
UTSW |
15 |
57,917,745 (GRCm39) |
missense |
probably benign |
0.13 |
R3979:Zhx1
|
UTSW |
15 |
57,916,636 (GRCm39) |
missense |
probably benign |
0.14 |
R4086:Zhx1
|
UTSW |
15 |
57,916,317 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5013:Zhx1
|
UTSW |
15 |
57,917,538 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5125:Zhx1
|
UTSW |
15 |
57,917,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5180:Zhx1
|
UTSW |
15 |
57,917,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5181:Zhx1
|
UTSW |
15 |
57,917,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R5186:Zhx1
|
UTSW |
15 |
57,915,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R5187:Zhx1
|
UTSW |
15 |
57,915,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R5408:Zhx1
|
UTSW |
15 |
57,915,819 (GRCm39) |
missense |
probably damaging |
0.99 |
R5490:Zhx1
|
UTSW |
15 |
57,916,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R5629:Zhx1
|
UTSW |
15 |
57,918,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R6314:Zhx1
|
UTSW |
15 |
57,917,398 (GRCm39) |
missense |
probably benign |
0.01 |
R6768:Zhx1
|
UTSW |
15 |
57,917,499 (GRCm39) |
missense |
probably benign |
0.27 |
R7081:Zhx1
|
UTSW |
15 |
57,917,734 (GRCm39) |
missense |
probably benign |
0.00 |
R7211:Zhx1
|
UTSW |
15 |
57,916,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7219:Zhx1
|
UTSW |
15 |
57,917,733 (GRCm39) |
missense |
probably benign |
|
R7232:Zhx1
|
UTSW |
15 |
57,916,465 (GRCm39) |
missense |
probably benign |
0.04 |
R7275:Zhx1
|
UTSW |
15 |
57,917,758 (GRCm39) |
missense |
probably benign |
|
R7287:Zhx1
|
UTSW |
15 |
57,916,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R7369:Zhx1
|
UTSW |
15 |
57,916,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R7381:Zhx1
|
UTSW |
15 |
57,916,561 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7810:Zhx1
|
UTSW |
15 |
57,911,798 (GRCm39) |
splice site |
probably null |
|
R8103:Zhx1
|
UTSW |
15 |
57,916,662 (GRCm39) |
missense |
probably benign |
0.32 |
R8256:Zhx1
|
UTSW |
15 |
57,916,359 (GRCm39) |
missense |
probably benign |
0.27 |
R9422:Zhx1
|
UTSW |
15 |
57,916,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R9517:Zhx1
|
UTSW |
15 |
57,915,812 (GRCm39) |
nonsense |
probably null |
|
R9768:Zhx1
|
UTSW |
15 |
57,918,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTGGGCTGAAAACCAGATCTTG -3'
(R):5'- AGCTGAGGGCACTTCTGAAG -3'
Sequencing Primer
(F):5'- GGGCTGAAAACCAGATCTTGATTTG -3'
(R):5'- CTGAGGGCACTTCTGAAGAGAAAG -3'
|
Posted On |
2016-06-15 |