Incidental Mutation 'R3979:Zhx1'
| ID |
311212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx1
|
| Ensembl Gene |
ENSMUSG00000022361 |
| Gene Name |
zinc fingers and homeoboxes 1 |
| Synonyms |
|
| MMRRC Submission |
040942-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3979 (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 57916636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 537
(T537A)
|
| 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: T537A
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000066201
Gene: ENSMUSG00000022361
AA Change: T537A
| 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: T537A
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105797
Gene: ENSMUSG00000022361
AA Change: T537A
| 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: T537A
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134844
Gene: ENSMUSG00000022361
AA Change: T537A
| 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: T537A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000135230
Gene: ENSMUSG00000022361
AA Change: T537A
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,154,320 (GRCm39) |
V82A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ak3 |
T |
A |
19: 29,025,118 (GRCm39) |
S38C |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,147,354 (GRCm39) |
N170S |
probably benign |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Bicral |
T |
A |
17: 47,141,917 (GRCm39) |
M1L |
unknown |
Het |
| Bop1 |
A |
G |
15: 76,338,076 (GRCm39) |
L598P |
probably damaging |
Het |
| Cachd1 |
A |
T |
4: 100,828,085 (GRCm39) |
D611V |
probably damaging |
Het |
| Cfap70 |
T |
A |
14: 20,489,787 (GRCm39) |
E246D |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,692,245 (GRCm39) |
Y294* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,386,402 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dnajb6 |
T |
C |
5: 29,956,006 (GRCm39) |
F46L |
possibly damaging |
Het |
| Exoc7 |
T |
C |
11: 116,187,588 (GRCm39) |
E275G |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,559,491 (GRCm39) |
I1672T |
probably benign |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| H2-M10.4 |
A |
G |
17: 36,772,877 (GRCm39) |
V35A |
probably benign |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,137,552 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,409,682 (GRCm39) |
H218Y |
probably damaging |
Het |
| Itpr3 |
A |
C |
17: 27,304,105 (GRCm39) |
K109Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,546 (GRCm39) |
D443G |
probably damaging |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,861,017 (GRCm39) |
G220D |
probably damaging |
Het |
| Krt24 |
A |
G |
11: 99,173,596 (GRCm39) |
C242R |
probably benign |
Het |
| Madd |
G |
A |
2: 91,007,173 (GRCm39) |
T313I |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 112,006,885 (GRCm39) |
|
probably null |
Het |
| Neil3 |
T |
C |
8: 54,076,699 (GRCm39) |
T79A |
probably damaging |
Het |
| Nras |
A |
G |
3: 102,967,541 (GRCm39) |
I46V |
probably benign |
Het |
| Or2w1b |
T |
A |
13: 21,300,031 (GRCm39) |
H56Q |
probably benign |
Het |
| Or4a66 |
T |
C |
2: 88,530,792 (GRCm39) |
S294G |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Rarres1 |
A |
G |
3: 67,403,143 (GRCm39) |
V86A |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rock2 |
A |
G |
12: 17,022,737 (GRCm39) |
K1059E |
probably damaging |
Het |
| Sft2d1rt |
T |
A |
11: 45,942,853 (GRCm39) |
K90M |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,240,647 (GRCm39) |
H259R |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,699,320 (GRCm39) |
D515G |
possibly damaging |
Het |
| Sycp2l |
A |
G |
13: 41,295,440 (GRCm39) |
I334M |
probably damaging |
Het |
| Tas2r103 |
A |
G |
6: 133,013,280 (GRCm39) |
L262P |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,199,087 (GRCm39) |
L1335S |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,481 (GRCm39) |
V182A |
probably damaging |
Het |
| Tcof1 |
C |
T |
18: 60,964,605 (GRCm39) |
E674K |
possibly damaging |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,575,738 (GRCm39) |
W25052R |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,693,168 (GRCm39) |
N1746I |
probably benign |
Het |
| Vax2 |
T |
C |
6: 83,714,529 (GRCm39) |
V148A |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,941 (GRCm39) |
I698N |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,078,252 (GRCm39) |
V372A |
probably benign |
Het |
| Zfp335 |
C |
T |
2: 164,752,558 (GRCm39) |
G62D |
probably benign |
Het |
| Zfp563 |
G |
A |
17: 33,324,701 (GRCm39) |
R432H |
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 |
|
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'- AGTTTGGTTTGCGCTCTTAACC -3'
(R):5'- CTGCACTAGTGAACCCAGATTC -3'
Sequencing Primer
(F):5'- CTTCTTCATCAGTAAGTACAGAACTG -3'
(R):5'- GCACTAGTGAACCCAGATTCATTTGG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation