Incidental Mutation 'R6988:Zhx3'
| ID |
543062 |
| 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 # |
R6988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 160621788 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 793
(M793T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105086
(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: M793T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: M793T
| 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: M793T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: M793T
| 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: M793T
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: M793T
| 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 |
noncoding transcript
Transcript: ENSMUST00000133937
|
| 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: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
G |
4: 137,181,890 (GRCm39) |
L15W |
probably damaging |
Het |
| 4930550C14Rik |
G |
A |
9: 53,323,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Aadacl4fm4 |
A |
G |
4: 144,412,895 (GRCm39) |
F15S |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,715,445 (GRCm39) |
S255F |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,289,064 (GRCm39) |
S404R |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,757 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 97,014,757 (GRCm39) |
I1342K |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,908 (GRCm39) |
D626E |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,348 (GRCm39) |
V332I |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,063,644 (GRCm39) |
E430G |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,090,462 (GRCm39) |
I395N |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,467,311 (GRCm39) |
I878N |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,394,868 (GRCm39) |
Q745* |
probably null |
Het |
| Ccl19 |
A |
T |
4: 42,754,885 (GRCm39) |
I87N |
probably damaging |
Het |
| Ces2g |
G |
C |
8: 105,690,540 (GRCm39) |
G107A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,902,335 (GRCm39) |
T14A |
unknown |
Het |
| Dnah7a |
T |
C |
1: 53,621,784 (GRCm39) |
I1114V |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,705,373 (GRCm39) |
I2462T |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,862,249 (GRCm39) |
F208S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,417 (GRCm39) |
E3993G |
probably damaging |
Het |
| Erv3 |
C |
T |
2: 131,697,886 (GRCm39) |
D158N |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,597,539 (GRCm39) |
F647I |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,078,680 (GRCm39) |
|
probably benign |
Het |
| Fgfr1op2 |
T |
C |
6: 146,491,463 (GRCm39) |
F109L |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,953,728 (GRCm39) |
F98S |
possibly damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,484 (GRCm39) |
K107E |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,256,201 (GRCm39) |
Q1436L |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,383 (GRCm39) |
Y79C |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Mnt |
C |
A |
11: 74,733,635 (GRCm39) |
|
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,852,883 (GRCm39) |
T112A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,982 (GRCm39) |
D506G |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,263,806 (GRCm39) |
R81* |
probably null |
Het |
| Or6c2 |
T |
A |
10: 129,362,542 (GRCm39) |
S149T |
probably benign |
Het |
| Or6c217 |
G |
C |
10: 129,738,278 (GRCm39) |
F100L |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,477,449 (GRCm39) |
V1863F |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,577 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,825,363 (GRCm39) |
K636E |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,033,754 (GRCm39) |
Y1151F |
probably benign |
Het |
| Rrad |
A |
G |
8: 105,357,268 (GRCm39) |
V93A |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,221,553 (GRCm39) |
R118* |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,293,597 (GRCm39) |
N596S |
probably benign |
Het |
| Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,127,733 (GRCm39) |
D1759G |
possibly damaging |
Het |
| Supt20 |
T |
C |
3: 54,606,018 (GRCm39) |
S35P |
probably damaging |
Het |
| Syde2 |
G |
T |
3: 145,725,564 (GRCm39) |
R885L |
probably benign |
Het |
| Synm |
G |
A |
7: 67,383,406 (GRCm39) |
L1419F |
probably damaging |
Het |
| Tekt2 |
A |
G |
4: 126,217,236 (GRCm39) |
F221L |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,586,941 (GRCm39) |
I90T |
possibly damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trib2 |
A |
G |
12: 15,865,339 (GRCm39) |
S79P |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,900,969 (GRCm39) |
M1084V |
probably benign |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,272 (GRCm39) |
F246L |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,510 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,080,716 (GRCm39) |
E1357G |
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 |
|
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'- TGGGTCTTATCACAGAGGGTC -3'
(R):5'- GTGGCAAGAGTGAGTTTCCAG -3'
Sequencing Primer
(F):5'- AGAGGGTCTGCAGATCTTCCTC -3'
(R):5'- CAAGAGTGAGTTTCCAGGGATG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation