Incidental Mutation 'R4086:Zhx1'
| ID |
317386 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx1
|
| Ensembl Gene |
ENSMUSG00000022361 |
| Gene Name |
zinc fingers and homeoboxes 1 |
| Synonyms |
|
| MMRRC Submission |
041625-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57916317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 643
(E643G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134844
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070143]
[ENSMUST00000110168]
[ENSMUST00000175805]
[ENSMUST00000176076]
[ENSMUST00000176935]
[ENSMUST00000177176]
[ENSMUST00000177504]
[ENSMUST00000177276]
|
| AlphaFold |
P70121 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070143
AA Change: E643G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: E643G
| 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 |
possibly damaging
Transcript: ENSMUST00000110168
AA Change: E643G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: E643G
| 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 |
possibly damaging
Transcript: ENSMUST00000175805
AA Change: E643G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: E643G
| 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: ENSMUST00000177504
|
| SMART Domains |
Protein: ENSMUSP00000135111
Gene: ENSMUSG00000022362
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177276
|
| SMART Domains |
Protein: ENSMUSP00000135230
Gene: ENSMUSG00000022361
| 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 |
|
| Meta Mutation Damage Score |
0.0771 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (58/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd7 |
G |
A |
2: 3,341,488 (GRCm39) |
|
probably null |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Adcy7 |
A |
G |
8: 89,042,414 (GRCm39) |
D427G |
probably benign |
Het |
| Adrm1 |
A |
G |
2: 179,814,627 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,233,984 (GRCm39) |
I1103M |
probably benign |
Het |
| Arhgap32 |
A |
C |
9: 32,158,362 (GRCm39) |
|
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,103,712 (GRCm39) |
R767G |
probably damaging |
Het |
| BC046251 |
A |
G |
7: 65,231,896 (GRCm39) |
|
noncoding transcript |
Het |
| Brwd1 |
T |
C |
16: 95,847,572 (GRCm39) |
S683G |
probably benign |
Het |
| Calcoco1 |
C |
G |
15: 102,618,834 (GRCm39) |
|
probably benign |
Het |
| Carmil1 |
G |
T |
13: 24,208,444 (GRCm39) |
P834T |
possibly damaging |
Het |
| Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
| Col24a1 |
G |
A |
3: 145,167,192 (GRCm39) |
G1090R |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ets2 |
C |
A |
16: 95,510,833 (GRCm39) |
D30E |
probably damaging |
Het |
| Fam181b |
T |
C |
7: 92,729,788 (GRCm39) |
V187A |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbxo41 |
C |
T |
6: 85,455,528 (GRCm39) |
R552Q |
possibly damaging |
Het |
| Fstl5 |
G |
T |
3: 76,555,593 (GRCm39) |
C53F |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,395 (GRCm39) |
Y791C |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm15446 |
A |
G |
5: 110,091,121 (GRCm39) |
K458E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,870,815 (GRCm39) |
I1389V |
probably damaging |
Het |
| Ipo9 |
A |
G |
1: 135,316,428 (GRCm39) |
|
probably benign |
Het |
| Krtap31-1 |
C |
T |
11: 99,799,145 (GRCm39) |
T116I |
possibly damaging |
Het |
| Mafa |
T |
G |
15: 75,618,986 (GRCm39) |
K262N |
probably damaging |
Het |
| Nxph4 |
T |
C |
10: 127,362,555 (GRCm39) |
Y112C |
probably damaging |
Het |
| Or5ak4 |
C |
A |
2: 85,162,170 (GRCm39) |
W24L |
probably benign |
Het |
| Or6c70 |
A |
G |
10: 129,710,167 (GRCm39) |
V153A |
possibly damaging |
Het |
| Pgls |
G |
A |
8: 72,048,734 (GRCm39) |
A142T |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,274,891 (GRCm39) |
I885V |
probably benign |
Het |
| Prkcq |
A |
G |
2: 11,288,679 (GRCm39) |
D544G |
probably damaging |
Het |
| Rnf44 |
T |
C |
13: 54,830,148 (GRCm39) |
N254D |
possibly damaging |
Het |
| Septin10 |
A |
T |
10: 59,028,045 (GRCm39) |
L92* |
probably null |
Het |
| Slc14a2 |
A |
T |
18: 78,248,998 (GRCm39) |
I156N |
probably damaging |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Thap12 |
A |
G |
7: 98,365,701 (GRCm39) |
D623G |
possibly damaging |
Het |
| Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
| Trim14 |
T |
A |
4: 46,523,709 (GRCm39) |
T110S |
probably benign |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Ube2u |
T |
A |
4: 100,407,039 (GRCm39) |
I187N |
probably benign |
Het |
| Vmn1r90 |
G |
A |
7: 14,297,219 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
A |
G |
15: 82,192,762 (GRCm39) |
M149V |
probably benign |
Het |
| Xpo4 |
C |
T |
14: 57,880,490 (GRCm39) |
|
probably benign |
Het |
| Zbtb21 |
A |
T |
16: 97,753,963 (GRCm39) |
Y135N |
probably damaging |
Het |
| Zbtb22 |
T |
A |
17: 34,137,142 (GRCm39) |
V429D |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,765,879 (GRCm39) |
H1469Y |
probably benign |
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 |
|
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'- TTCCAAGCATAACGGGTATCCC -3'
(R):5'- TTCAGGCAAGTTTTCTCAACAG -3'
Sequencing Primer
(F):5'- ACTATATCTGTTCTGGCAAGGC -3'
(R):5'- CAGGCAAGTTTTCTCAACAGTTCTG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation