Incidental Mutation 'R5125:Zhx1'
| ID |
393518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx1
|
| Ensembl Gene |
ENSMUSG00000022361 |
| Gene Name |
zinc fingers and homeoboxes 1 |
| Synonyms |
|
| MMRRC Submission |
042713-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5125 (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]
[ENSMUST00000177176]
[ENSMUST00000177276]
[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 benign
Transcript: ENSMUST00000177176
|
| 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: 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: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
96% (49/51) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
| Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
| Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,480 (GRCm39) |
I294F |
probably benign |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| P2rx2 |
G |
A |
5: 110,490,517 (GRCm39) |
T66I |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Rbm39 |
A |
T |
2: 156,004,785 (GRCm39) |
M184K |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
| Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
| Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
possibly 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 |
|
R5124: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'- AACGTTGGGCTGAAAACCAG -3'
(R):5'- AGCTGAGGGCACTTCTGAAGAG -3'
Sequencing Primer
(F):5'- CGTTGGGCTGAAAACCAGATCTTG -3'
(R):5'- CTGAGGGCACTTCTGAAGAGAAAGAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation