Incidental Mutation 'IGL01867:Zhx1'
ID |
178549 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL01867
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57917841 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 135
(M135K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070143]
[ENSMUST00000110168]
[ENSMUST00000175805]
[ENSMUST00000176076]
[ENSMUST00000176935]
[ENSMUST00000177276]
[ENSMUST00000177504]
[ENSMUST00000177176]
|
AlphaFold |
P70121 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000070143
AA Change: M135K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066201 Gene: ENSMUSG00000022361 AA Change: M135K
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: M135K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105797 Gene: ENSMUSG00000022361 AA Change: M135K
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: M135K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000134844 Gene: ENSMUSG00000022361 AA Change: M135K
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: M135K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135230 Gene: ENSMUSG00000022361 AA Change: M135K
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177176
|
Coding Region Coverage |
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,635,364 (GRCm39) |
E213G |
probably benign |
Het |
Akap6 |
T |
C |
12: 52,934,791 (GRCm39) |
L761P |
probably damaging |
Het |
Bbs7 |
A |
C |
3: 36,627,696 (GRCm39) |
L697R |
probably benign |
Het |
Cd74 |
G |
A |
18: 60,941,352 (GRCm39) |
R99H |
probably benign |
Het |
Cpne6 |
A |
G |
14: 55,751,137 (GRCm39) |
N182S |
probably benign |
Het |
Cyp4f17 |
A |
G |
17: 32,747,057 (GRCm39) |
H429R |
probably benign |
Het |
Dact2 |
A |
T |
17: 14,415,932 (GRCm39) |
M756K |
probably damaging |
Het |
Ets1 |
A |
G |
9: 32,645,455 (GRCm39) |
D234G |
probably damaging |
Het |
Fat3 |
A |
C |
9: 16,289,197 (GRCm39) |
S109A |
probably benign |
Het |
Fras1 |
G |
T |
5: 96,735,990 (GRCm39) |
M528I |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gtf3c1 |
A |
G |
7: 125,261,548 (GRCm39) |
F1189L |
probably benign |
Het |
Ift81 |
A |
T |
5: 122,740,739 (GRCm39) |
|
probably benign |
Het |
Insyn2b |
A |
G |
11: 34,353,065 (GRCm39) |
E369G |
probably benign |
Het |
Lag3 |
A |
G |
6: 124,887,869 (GRCm39) |
S22P |
probably benign |
Het |
Mos |
G |
T |
4: 3,870,845 (GRCm39) |
Q324K |
probably benign |
Het |
Mtx2 |
T |
A |
2: 74,706,733 (GRCm39) |
V236E |
probably damaging |
Het |
Naip6 |
T |
C |
13: 100,436,820 (GRCm39) |
T568A |
probably benign |
Het |
Or5k8 |
A |
G |
16: 58,644,337 (GRCm39) |
F245S |
probably damaging |
Het |
Or6c35 |
T |
A |
10: 129,169,232 (GRCm39) |
L161M |
probably damaging |
Het |
Or6c68 |
T |
C |
10: 129,157,585 (GRCm39) |
I31T |
probably benign |
Het |
Or6c88 |
G |
A |
10: 129,406,696 (GRCm39) |
M57I |
possibly damaging |
Het |
Or8b53 |
A |
C |
9: 38,667,194 (GRCm39) |
D70A |
probably damaging |
Het |
Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
Plxnc1 |
A |
G |
10: 94,634,008 (GRCm39) |
V1365A |
possibly damaging |
Het |
Prex2 |
G |
T |
1: 11,168,727 (GRCm39) |
C241F |
probably benign |
Het |
Prr23a2 |
A |
G |
9: 98,739,113 (GRCm39) |
E157G |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,603,329 (GRCm39) |
H836Q |
probably benign |
Het |
Ptprd |
C |
T |
4: 76,161,884 (GRCm39) |
R117H |
probably damaging |
Het |
Rab11fip4 |
T |
C |
11: 79,574,216 (GRCm39) |
S102P |
probably benign |
Het |
Slc44a1 |
G |
T |
4: 53,536,405 (GRCm39) |
V194F |
probably damaging |
Het |
Synm |
T |
A |
7: 67,383,222 (GRCm39) |
H1480L |
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,783,570 (GRCm39) |
Y175C |
possibly damaging |
Het |
Trmt61a |
C |
T |
12: 111,645,150 (GRCm39) |
R29C |
probably benign |
Het |
Ubap1 |
C |
T |
4: 41,379,236 (GRCm39) |
T150I |
probably benign |
Het |
Uimc1 |
T |
C |
13: 55,223,214 (GRCm39) |
M353V |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,334,411 (GRCm39) |
M1135T |
possibly damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,196 (GRCm39) |
L31R |
probably damaging |
Het |
Wtap |
T |
C |
17: 13,188,342 (GRCm39) |
E186G |
probably benign |
Het |
Wwc2 |
T |
G |
8: 48,336,615 (GRCm39) |
N216H |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |