Incidental Mutation 'R4003:Zhx3'
| ID |
311334 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx3
|
| Ensembl Gene |
ENSMUSG00000035877 |
| Gene Name |
zinc fingers and homeoboxes 3 |
| Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
| MMRRC Submission |
040945-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4003 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 160622809 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 453
(P453S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
| AlphaFold |
Q8C0Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103111
AA Change: P453S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: P453S
| 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: P453S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: P453S
| 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: P453S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: P453S
| 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 |
|
| Meta Mutation Damage Score |
0.1038 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
98% (42/43) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
T |
7: 143,451,040 (GRCm39) |
M350L |
probably benign |
Het |
| Adgrf4 |
A |
T |
17: 42,980,650 (GRCm39) |
I145N |
probably damaging |
Het |
| Adgrv1 |
GA |
GAA |
13: 81,688,251 (GRCm39) |
|
probably null |
Het |
| Bmp8b |
T |
A |
4: 123,015,671 (GRCm39) |
|
probably benign |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Cerkl |
C |
A |
2: 79,259,138 (GRCm39) |
R33L |
possibly damaging |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,092,495 (GRCm39) |
E22G |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,720,977 (GRCm39) |
K2834E |
probably damaging |
Het |
| Eftud2 |
C |
T |
11: 102,750,936 (GRCm39) |
E286K |
possibly damaging |
Het |
| Elapor2 |
A |
C |
5: 9,490,877 (GRCm39) |
E629A |
probably benign |
Het |
| Fam222b |
C |
T |
11: 78,045,755 (GRCm39) |
P439S |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,173,995 (GRCm39) |
K35E |
probably benign |
Het |
| Hif3a |
T |
A |
7: 16,778,844 (GRCm39) |
Q358H |
probably damaging |
Het |
| L3hypdh |
T |
C |
12: 72,131,890 (GRCm39) |
D14G |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,899 (GRCm39) |
I1263T |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
| Mylk |
C |
A |
16: 34,783,947 (GRCm39) |
A1371D |
probably benign |
Het |
| Myo1b |
A |
G |
1: 51,838,689 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
T |
G |
9: 19,496,010 (GRCm39) |
M59R |
probably damaging |
Het |
| Pkp3 |
A |
G |
7: 140,668,650 (GRCm39) |
|
probably null |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,408,037 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,808,193 (GRCm39) |
M340K |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,034 (GRCm39) |
D1945G |
probably null |
Het |
| Slc22a2 |
A |
T |
17: 12,831,337 (GRCm39) |
I376F |
probably benign |
Het |
| Slc34a1 |
T |
C |
13: 55,550,474 (GRCm39) |
|
probably benign |
Het |
| Smc2 |
T |
C |
4: 52,462,897 (GRCm39) |
V629A |
probably damaging |
Het |
| Stab2 |
G |
T |
10: 86,693,988 (GRCm39) |
D633E |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,341,959 (GRCm39) |
V78M |
probably damaging |
Het |
| Tnfaip2 |
C |
T |
12: 111,417,778 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf25 |
T |
C |
4: 152,204,058 (GRCm39) |
M333T |
probably damaging |
Het |
| Triobp |
A |
G |
15: 78,844,177 (GRCm39) |
|
probably benign |
Het |
| Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,698,870 (GRCm39) |
C70* |
probably null |
Het |
| Zfp384 |
T |
C |
6: 125,010,200 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,186,730 (GRCm39) |
E920G |
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 |
|
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 |
|
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'- GCCTGTCACTTTGGTCAGATG -3'
(R):5'- AGTGCTGGCAATGTACAGC -3'
Sequencing Primer
(F):5'- GTCACTTTGGTCAGATGCTCTAC -3'
(R):5'- GCTGGCAATGTACAGCACCTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation