Incidental Mutation 'R9363:Zhx3'
| ID |
708778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx3
|
| Ensembl Gene |
ENSMUSG00000035877 |
| Gene Name |
zinc fingers and homeoboxes 3 |
| Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9363 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 160621785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 794
(A794V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000103115]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
| AlphaFold |
Q8C0Q2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103111
AA Change: A794V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: A794V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
|
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
HOX
|
300 |
362 |
1.48e-6 |
SMART |
|
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
HOX
|
489 |
551 |
2.25e-11 |
SMART |
|
HOX
|
608 |
669 |
2.04e-9 |
SMART |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
HOX
|
759 |
821 |
7.49e-8 |
SMART |
|
Pfam:Homez
|
836 |
888 |
5.2e-26 |
PFAM |
|
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103112
AA Change: A794V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: A794V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
|
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
HOX
|
300 |
362 |
1.48e-6 |
SMART |
|
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
HOX
|
489 |
551 |
2.25e-11 |
SMART |
|
HOX
|
608 |
669 |
2.04e-9 |
SMART |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
HOX
|
759 |
821 |
7.49e-8 |
SMART |
|
Pfam:Homez
|
836 |
888 |
5.2e-26 |
PFAM |
|
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103115
|
| SMART Domains |
Protein: ENSMUSP00000099404
Gene: ENSMUSG00000016933
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
33 |
144 |
5.54e-7 |
SMART |
|
PLCXc
|
320 |
464 |
3.7e-91 |
SMART |
|
PH
|
489 |
680 |
2.99e1 |
SMART |
|
SH2
|
548 |
645 |
1.12e-30 |
SMART |
|
SH2
|
666 |
747 |
3.78e-28 |
SMART |
|
SH3
|
794 |
850 |
6.49e-16 |
SMART |
|
PH
|
804 |
933 |
8.93e-2 |
SMART |
|
PLCYc
|
953 |
1070 |
3.23e-73 |
SMART |
|
C2
|
1089 |
1192 |
1.37e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109460
AA Change: A794V
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: A794V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
109 |
132 |
1.08e1 |
SMART |
|
low complexity region
|
167 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
238 |
249 |
N/A |
INTRINSIC |
|
HOX
|
300 |
362 |
1.48e-6 |
SMART |
|
low complexity region
|
434 |
447 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
HOX
|
489 |
551 |
2.25e-11 |
SMART |
|
HOX
|
608 |
669 |
2.04e-9 |
SMART |
|
low complexity region
|
677 |
690 |
N/A |
INTRINSIC |
|
HOX
|
759 |
821 |
7.49e-8 |
SMART |
|
Pfam:Homez
|
841 |
888 |
1.3e-17 |
PFAM |
|
low complexity region
|
919 |
936 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127201
|
| SMART Domains |
Protein: ENSMUSP00000120488
Gene: ENSMUSG00000035877
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176141
|
| SMART Domains |
Protein: ENSMUSP00000134763
Gene: ENSMUSG00000035877
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (40/40) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the zinc fingers and homeoboxes (ZHX) gene family. The encoded protein contains two C2H2-type zinc fingers and five homeodomains and forms a dimer with itself or with zinc fingers and homeoboxes family member 1. In the nucleus, the dimerized protein interacts with the A subunit of the ubiquitous transcription factor nuclear factor-Y and may function as a transcriptional repressor. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
A |
16: 56,438,575 (GRCm39) |
|
probably null |
Het |
| Alkbh1 |
A |
T |
12: 87,487,080 (GRCm39) |
Y96* |
probably null |
Het |
| Alkbh8 |
T |
A |
9: 3,385,576 (GRCm39) |
C658S |
probably damaging |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Blm |
T |
C |
7: 80,108,663 (GRCm39) |
Y1327C |
probably damaging |
Het |
| Ccdc28a |
C |
T |
10: 18,094,050 (GRCm39) |
D190N |
unknown |
Het |
| Chdh |
A |
G |
14: 29,753,310 (GRCm39) |
E73G |
probably damaging |
Het |
| Dab2 |
C |
T |
15: 6,460,481 (GRCm39) |
P463L |
probably benign |
Het |
| Dcun1d2 |
A |
G |
8: 13,309,014 (GRCm39) |
Y184H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,235,060 (GRCm39) |
L3535P |
probably damaging |
Het |
| Egr3 |
A |
G |
14: 70,316,761 (GRCm39) |
I153V |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Hcfc2 |
C |
T |
10: 82,574,258 (GRCm39) |
P144L |
probably damaging |
Het |
| Jkampl |
T |
A |
6: 73,446,487 (GRCm39) |
I21F |
possibly damaging |
Het |
| Mdc1 |
C |
A |
17: 36,162,019 (GRCm39) |
Q942K |
probably benign |
Het |
| Med15 |
C |
T |
16: 17,489,414 (GRCm39) |
V387I |
unknown |
Het |
| Muc4 |
C |
T |
16: 32,576,992 (GRCm39) |
S94L |
|
Het |
| Or5ak23 |
T |
A |
2: 85,244,993 (GRCm39) |
I77F |
probably damaging |
Het |
| Otud3 |
G |
T |
4: 138,623,133 (GRCm39) |
N369K |
probably benign |
Het |
| Parp14 |
C |
T |
16: 35,678,586 (GRCm39) |
E461K |
possibly damaging |
Het |
| Paxbp1 |
T |
A |
16: 90,827,395 (GRCm39) |
Q480L |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,500,831 (GRCm39) |
A1319V |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prkg2 |
A |
T |
5: 99,172,257 (GRCm39) |
S153T |
probably benign |
Het |
| Scara3 |
T |
C |
14: 66,168,720 (GRCm39) |
D299G |
probably benign |
Het |
| Scube1 |
C |
A |
15: 83,499,080 (GRCm39) |
E712* |
probably null |
Het |
| Setd4 |
T |
A |
16: 93,388,009 (GRCm39) |
E159V |
probably benign |
Het |
| Slc15a2 |
T |
A |
16: 36,572,672 (GRCm39) |
I670F |
possibly damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,637 (GRCm39) |
|
probably null |
Het |
| Snx18 |
G |
A |
13: 113,754,732 (GRCm39) |
P67L |
probably benign |
Het |
| St3gal5 |
A |
T |
6: 72,119,301 (GRCm39) |
K165* |
probably null |
Het |
| Sun5 |
A |
G |
2: 153,700,365 (GRCm39) |
I294T |
probably benign |
Het |
| Svil |
A |
G |
18: 5,037,155 (GRCm39) |
K37E |
probably benign |
Het |
| Tmem104 |
T |
C |
11: 115,134,691 (GRCm39) |
I409T |
probably benign |
Het |
| Tnxb |
T |
C |
17: 34,917,294 (GRCm39) |
Y2230H |
possibly damaging |
Het |
| Trps1 |
A |
G |
15: 50,524,676 (GRCm39) |
S1085P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,592 (GRCm39) |
N17162K |
probably damaging |
Het |
| Ugt1a7c |
T |
A |
1: 88,023,616 (GRCm39) |
F258L |
probably damaging |
Het |
| Vmn2r102 |
C |
T |
17: 19,897,614 (GRCm39) |
H210Y |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,815,423 (GRCm39) |
V147E |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,331 (GRCm39) |
T351A |
probably benign |
Het |
|
| Other mutations in Zhx3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00530:Zhx3
|
APN |
2 |
160,622,761 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01759:Zhx3
|
APN |
2 |
160,622,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Zhx3
|
APN |
2 |
160,621,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02550:Zhx3
|
APN |
2 |
160,623,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0497:Zhx3
|
UTSW |
2 |
160,621,914 (GRCm39) |
nonsense |
probably null |
|
|
R0882:Zhx3
|
UTSW |
2 |
160,622,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1396:Zhx3
|
UTSW |
2 |
160,622,940 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1587:Zhx3
|
UTSW |
2 |
160,623,613 (GRCm39) |
splice site |
probably null |
|
|
R1646:Zhx3
|
UTSW |
2 |
160,623,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Zhx3
|
UTSW |
2 |
160,622,275 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2322:Zhx3
|
UTSW |
2 |
160,623,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3791:Zhx3
|
UTSW |
2 |
160,622,368 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3899:Zhx3
|
UTSW |
2 |
160,622,371 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4003:Zhx3
|
UTSW |
2 |
160,622,809 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4619:Zhx3
|
UTSW |
2 |
160,623,879 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5307:Zhx3
|
UTSW |
2 |
160,621,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5461:Zhx3
|
UTSW |
2 |
160,621,938 (GRCm39) |
missense |
probably benign |
|
|
R5648:Zhx3
|
UTSW |
2 |
160,623,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5952:Zhx3
|
UTSW |
2 |
160,623,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Zhx3
|
UTSW |
2 |
160,621,463 (GRCm39) |
missense |
probably benign |
|
|
R6035:Zhx3
|
UTSW |
2 |
160,621,463 (GRCm39) |
missense |
probably benign |
|
|
R6734:Zhx3
|
UTSW |
2 |
160,623,640 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6988:Zhx3
|
UTSW |
2 |
160,621,788 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7032:Zhx3
|
UTSW |
2 |
160,622,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7288:Zhx3
|
UTSW |
2 |
160,623,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7348:Zhx3
|
UTSW |
2 |
160,624,038 (GRCm39) |
nonsense |
probably null |
|
|
R7947:Zhx3
|
UTSW |
2 |
160,623,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Zhx3
|
UTSW |
2 |
160,623,619 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8152:Zhx3
|
UTSW |
2 |
160,622,695 (GRCm39) |
missense |
probably benign |
|
|
R8831:Zhx3
|
UTSW |
2 |
160,622,691 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8886:Zhx3
|
UTSW |
2 |
160,623,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Zhx3
|
UTSW |
2 |
160,621,393 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9422:Zhx3
|
UTSW |
2 |
160,624,020 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9687:Zhx3
|
UTSW |
2 |
160,623,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF002:Zhx3
|
UTSW |
2 |
160,623,726 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1088:Zhx3
|
UTSW |
2 |
160,621,675 (GRCm39) |
unclassified |
probably benign |
|
|
Z1176:Zhx3
|
UTSW |
2 |
160,622,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGGTCTTATCACAGAGGG -3'
(R):5'- GCAAGAGTGAGTTTCCAGGG -3'
Sequencing Primer
(F):5'- AGAGGGTCTGCAGATCTTCCTC -3'
(R):5'- CAAGAGTGAGTTTCCAGGGATGGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation