Incidental Mutation 'R3403:Zhx1'
| ID |
259261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx1
|
| Ensembl Gene |
ENSMUSG00000022361 |
| Gene Name |
zinc fingers and homeoboxes 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3403 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57917745 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 167
(E167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070143]
[ENSMUST00000110168]
[ENSMUST00000175805]
[ENSMUST00000176076]
[ENSMUST00000176935]
[ENSMUST00000177176]
[ENSMUST00000177276]
[ENSMUST00000177504]
|
| AlphaFold |
P70121 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070143
AA Change: E167G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: E167G
| 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: ENSMUST00000110168
AA Change: E167G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: E167G
| 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: ENSMUST00000175805
AA Change: E167G
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: E167G
| 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 benign
Transcript: ENSMUST00000177176
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177276
AA Change: E167G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000135230
Gene: ENSMUSG00000022361
AA Change: E167G
| 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: 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 |
0.0856 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.4%
|
| 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 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
T |
C |
1: 78,673,839 (GRCm39) |
V333A |
probably damaging |
Het |
| Afdn |
C |
T |
17: 14,104,176 (GRCm39) |
R1156C |
probably damaging |
Het |
| Asic3 |
A |
G |
5: 24,621,985 (GRCm39) |
E415G |
probably damaging |
Het |
| Cactin |
G |
A |
10: 81,161,709 (GRCm39) |
R747H |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,687,604 (GRCm39) |
I465F |
probably benign |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,566,879 (GRCm39) |
V2449A |
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,403,407 (GRCm39) |
N189D |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Ndrg3 |
C |
T |
2: 156,790,208 (GRCm39) |
V92M |
probably damaging |
Het |
| Or5ac20 |
G |
C |
16: 59,104,475 (GRCm39) |
N128K |
probably benign |
Het |
| Pacs2 |
T |
C |
12: 113,014,570 (GRCm39) |
S214P |
probably damaging |
Het |
| Rad51 |
T |
A |
2: 118,951,025 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
T |
C |
11: 29,657,690 (GRCm39) |
S499P |
probably benign |
Het |
| Slc6a6 |
A |
G |
6: 91,703,110 (GRCm39) |
H161R |
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem74 |
C |
T |
15: 43,730,417 (GRCm39) |
V209M |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,549,845 (GRCm39) |
E701V |
probably damaging |
Het |
| Upk3a |
T |
C |
15: 84,902,384 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R5124:Zhx1
|
UTSW |
15 |
57,917,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GCTGAAGAACTCACACTTTCTGC -3'
(R):5'- AATGTTGTGCTGAATTCCTCCTATG -3'
Sequencing Primer
(F):5'- GAAGAACTCACACTTTCTGCATTTTC -3'
(R):5'- CCTCCTATGTTTGTGTTGAATGC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation