Incidental Mutation 'R2322:Zhx3'
| ID |
244770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx3
|
| Ensembl Gene |
ENSMUSG00000035877 |
| Gene Name |
zinc fingers and homeoboxes 3 |
| Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 160623948 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 73
(D73G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120488
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
| AlphaFold |
Q8C0Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103111
AA Change: D73G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: D73G
| 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 damaging
Transcript: ENSMUST00000103112
AA Change: D73G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: D73G
| 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 damaging
Transcript: ENSMUST00000109460
AA Change: D73G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: D73G
| 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 damaging
Transcript: ENSMUST00000127201
AA Change: D73G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120488
Gene: ENSMUSG00000035877
AA Change: D73G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
77 |
100 |
1.86e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133937
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176141
AA Change: D73G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134763
Gene: ENSMUSG00000035877
AA Change: D73G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,042,147 (GRCm39) |
Y174C |
unknown |
Het |
| Bod1l |
A |
T |
5: 41,984,463 (GRCm39) |
V529E |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,577,492 (GRCm39) |
T176A |
probably benign |
Het |
| Ccn2 |
T |
C |
10: 24,472,732 (GRCm39) |
M214T |
probably damaging |
Het |
| Cfap57 |
T |
A |
4: 118,467,922 (GRCm39) |
I272L |
probably benign |
Het |
| Cnr1 |
A |
G |
4: 33,944,514 (GRCm39) |
K301E |
probably damaging |
Het |
| Elavl1 |
A |
T |
8: 4,339,802 (GRCm39) |
L260H |
probably damaging |
Het |
| Ercc6 |
A |
G |
14: 32,248,274 (GRCm39) |
Y275C |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,007,847 (GRCm39) |
S96P |
probably damaging |
Het |
| Hykk |
G |
A |
9: 54,853,418 (GRCm39) |
G247S |
probably benign |
Het |
| Ky |
T |
C |
9: 102,414,990 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
C |
10: 59,290,766 (GRCm39) |
|
probably null |
Het |
| Or2y17 |
T |
G |
11: 49,231,476 (GRCm39) |
L39R |
probably damaging |
Het |
| Or5w11 |
T |
C |
2: 87,459,118 (GRCm39) |
C104R |
possibly damaging |
Het |
| Ppp4r3a |
C |
T |
12: 101,008,878 (GRCm39) |
R667Q |
probably damaging |
Het |
| Ptprj |
T |
C |
2: 90,301,473 (GRCm39) |
T220A |
probably benign |
Het |
| St18 |
T |
A |
1: 6,914,348 (GRCm39) |
C766* |
probably null |
Het |
| St8sia4 |
C |
T |
1: 95,581,463 (GRCm39) |
R93H |
probably damaging |
Het |
| Tcim |
G |
C |
8: 24,928,726 (GRCm39) |
R63G |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,217,813 (GRCm39) |
S488P |
possibly damaging |
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 |
|
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 |
|
R9363:Zhx3
|
UTSW |
2 |
160,621,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- TGGCTTGGTCACATTCCAC -3'
(R):5'- TGATCCCCGTTAAGACCGTG -3'
Sequencing Primer
(F):5'- CCCTGAGTGACACTTGGCATTATG -3'
(R):5'- TTAAGACCGTGGTGCTGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation