Incidental Mutation 'R5187:Zhx1'
| ID |
397984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx1
|
| Ensembl Gene |
ENSMUSG00000022361 |
| Gene Name |
zinc fingers and homeoboxes 1 |
| Synonyms |
|
| MMRRC Submission |
042766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
57910399-57939904 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 57915819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 809
(M809K)
|
| 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 |
probably damaging
Transcript: ENSMUST00000070143
AA Change: M809K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: M809K
| 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: M809K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: M809K
| 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: M809K
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: M809K
| 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 |
0.7459 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Abcg5 |
A |
G |
17: 84,965,992 (GRCm39) |
L628S |
probably damaging |
Het |
| Acbd3 |
C |
T |
1: 180,564,297 (GRCm39) |
R201* |
probably null |
Het |
| Adsl |
A |
G |
15: 80,833,106 (GRCm39) |
|
probably benign |
Het |
| Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
| Cachd1 |
T |
C |
4: 100,823,397 (GRCm39) |
V483A |
possibly damaging |
Het |
| Calm1 |
T |
C |
12: 100,166,472 (GRCm39) |
S19P |
probably benign |
Het |
| Casq1 |
T |
C |
1: 172,040,641 (GRCm39) |
N313S |
possibly damaging |
Het |
| Cav2 |
G |
T |
6: 17,286,935 (GRCm39) |
A64S |
possibly damaging |
Het |
| Ccdc167 |
C |
A |
17: 29,924,485 (GRCm39) |
A39S |
possibly damaging |
Het |
| Cd274 |
T |
C |
19: 29,359,936 (GRCm39) |
L247P |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,854,361 (GRCm39) |
E138G |
probably damaging |
Het |
| Cltb |
C |
T |
13: 54,741,693 (GRCm39) |
C81Y |
probably benign |
Het |
| Clvs1 |
T |
C |
4: 9,281,865 (GRCm39) |
L103P |
possibly damaging |
Het |
| Cntrob |
G |
T |
11: 69,212,717 (GRCm39) |
Q106K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,936,643 (GRCm39) |
L14P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
| Cyb5r4 |
T |
C |
9: 86,909,001 (GRCm39) |
V26A |
possibly damaging |
Het |
| Ddx18 |
A |
G |
1: 121,489,857 (GRCm39) |
I184T |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,427,222 (GRCm39) |
W766R |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnah5 |
G |
A |
15: 28,272,318 (GRCm39) |
V1041I |
probably benign |
Het |
| Dnajc21 |
A |
T |
15: 10,464,050 (GRCm39) |
N38K |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,043,015 (GRCm39) |
|
probably null |
Het |
| Fryl |
A |
G |
5: 73,243,943 (GRCm39) |
L1209P |
possibly damaging |
Het |
| Gm5093 |
T |
C |
17: 46,750,799 (GRCm39) |
E76G |
possibly damaging |
Het |
| Grk6 |
T |
C |
13: 55,599,519 (GRCm39) |
C169R |
probably damaging |
Het |
| Hmgn1 |
A |
T |
16: 95,923,627 (GRCm39) |
|
probably null |
Het |
| Lpcat2b |
T |
A |
5: 107,582,001 (GRCm39) |
Y443* |
probably null |
Het |
| Macf1 |
T |
A |
4: 123,365,882 (GRCm39) |
M1395L |
probably benign |
Het |
| Mllt10 |
C |
T |
2: 18,213,585 (GRCm39) |
Q997* |
probably null |
Het |
| Mocos |
T |
A |
18: 24,825,611 (GRCm39) |
V722E |
probably damaging |
Het |
| Moxd2 |
A |
T |
6: 40,856,271 (GRCm39) |
L534M |
probably benign |
Het |
| Mphosph10 |
T |
C |
7: 64,035,568 (GRCm39) |
M368V |
possibly damaging |
Het |
| Myo15a |
G |
A |
11: 60,394,440 (GRCm39) |
G2383D |
probably damaging |
Het |
| Myo5b |
T |
C |
18: 74,834,745 (GRCm39) |
I935T |
possibly damaging |
Het |
| Ndst4 |
T |
A |
3: 125,231,560 (GRCm39) |
L43H |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,579,580 (GRCm39) |
L433Q |
possibly damaging |
Het |
| Nsl1 |
A |
G |
1: 190,807,387 (GRCm39) |
N189D |
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,578,540 (GRCm39) |
I77V |
probably damaging |
Het |
| Or51e1 |
A |
T |
7: 102,358,868 (GRCm39) |
H134L |
probably damaging |
Het |
| Pcdh8 |
T |
C |
14: 80,007,594 (GRCm39) |
D323G |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,279,448 (GRCm39) |
S2957P |
possibly damaging |
Het |
| Prdm9 |
T |
G |
17: 15,783,155 (GRCm39) |
E42D |
probably damaging |
Het |
| Rasal1 |
C |
A |
5: 120,813,460 (GRCm39) |
H611Q |
probably benign |
Het |
| Relch |
T |
A |
1: 105,646,534 (GRCm39) |
L620* |
probably null |
Het |
| Rif1 |
T |
A |
2: 51,971,301 (GRCm39) |
W260R |
probably damaging |
Het |
| Rpain |
A |
G |
11: 70,864,658 (GRCm39) |
D115G |
probably benign |
Het |
| Rpl3l |
T |
C |
17: 24,951,429 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,787,338 (GRCm39) |
I1012F |
probably damaging |
Het |
| Sema4f |
A |
G |
6: 82,894,631 (GRCm39) |
V480A |
probably benign |
Het |
| Slc35a3 |
T |
A |
3: 116,474,794 (GRCm39) |
K199N |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,200,322 (GRCm39) |
Y121C |
probably damaging |
Het |
| Slc7a14 |
T |
C |
3: 31,291,514 (GRCm39) |
|
probably null |
Het |
| Sort1 |
T |
A |
3: 108,231,992 (GRCm39) |
I172N |
probably damaging |
Het |
| Spink5 |
C |
A |
18: 44,122,518 (GRCm39) |
H328N |
probably damaging |
Het |
| Tbl1xr1 |
A |
G |
3: 22,263,770 (GRCm39) |
D504G |
probably damaging |
Het |
| Tcaf3 |
C |
T |
6: 42,573,954 (GRCm39) |
C86Y |
possibly damaging |
Het |
| Tfap2e |
T |
C |
4: 126,628,434 (GRCm39) |
D174G |
probably benign |
Het |
| Tmem42 |
T |
C |
9: 122,851,232 (GRCm39) |
V65A |
probably damaging |
Het |
| Vmn1r225 |
C |
G |
17: 20,723,177 (GRCm39) |
T206R |
probably damaging |
Het |
| Vmn2r38 |
A |
G |
7: 9,100,571 (GRCm39) |
F65S |
probably benign |
Het |
| Vmn2r87 |
A |
T |
10: 130,333,208 (GRCm39) |
L14Q |
probably null |
Het |
| Xirp2 |
T |
C |
2: 67,345,711 (GRCm39) |
S2651P |
probably benign |
Het |
| Zfp429 |
G |
A |
13: 67,538,959 (GRCm39) |
L162F |
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 |
|
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 |
|
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'- CCGATTTAGAAAGCTTCCGC -3'
(R):5'- TTGAATGGTCTATCTTCCCTTAGG -3'
Sequencing Primer
(F):5'- TCCGCTTCACATGTCGTGGG -3'
(R):5'- CTATCTTCCCTTAGGAGAAGAGGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation