Incidental Mutation 'R4619:Zhx3'
ID |
345157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zhx3
|
Ensembl Gene |
ENSMUSG00000035877 |
Gene Name |
zinc fingers and homeoboxes 3 |
Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
MMRRC Submission |
041885-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4619 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
160612367-160714910 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 160623879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 96
(M96K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120488
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
AlphaFold |
Q8C0Q2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000103111
AA Change: M96K
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099400 Gene: ENSMUSG00000035877 AA Change: M96K
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 |
possibly damaging
Transcript: ENSMUST00000103112
AA Change: M96K
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000099401 Gene: ENSMUSG00000035877 AA Change: M96K
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 |
possibly damaging
Transcript: ENSMUST00000109460
AA Change: M96K
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000105086 Gene: ENSMUSG00000035877 AA Change: M96K
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: M96K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000120488 Gene: ENSMUSG00000035877 AA Change: M96K
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: M96K
PolyPhen 2
Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134763 Gene: ENSMUSG00000035877 AA Change: M96K
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 |
0.1489 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
100% (74/74) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
G |
A |
3: 137,775,520 (GRCm39) |
V1570I |
probably damaging |
Het |
Alx4 |
A |
G |
2: 93,473,106 (GRCm39) |
R35G |
probably damaging |
Het |
Apod |
T |
C |
16: 31,116,211 (GRCm39) |
D173G |
probably benign |
Het |
Atp8b3 |
G |
A |
10: 80,361,858 (GRCm39) |
T731I |
possibly damaging |
Het |
Birc6 |
A |
C |
17: 74,947,145 (GRCm39) |
T2955P |
probably benign |
Het |
Cdh15 |
G |
A |
8: 123,587,612 (GRCm39) |
D179N |
probably damaging |
Het |
Cntnap5c |
G |
T |
17: 58,717,263 (GRCm39) |
V1282L |
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,141,372 (GRCm39) |
R1175H |
probably benign |
Het |
Dbh |
A |
G |
2: 27,064,836 (GRCm39) |
D349G |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,605,278 (GRCm39) |
I2372V |
probably benign |
Het |
Fer1l4 |
A |
T |
2: 155,889,007 (GRCm39) |
W389R |
probably damaging |
Het |
Fndc1 |
T |
C |
17: 7,984,036 (GRCm39) |
T1297A |
unknown |
Het |
Gart |
T |
C |
16: 91,422,321 (GRCm39) |
N732S |
probably damaging |
Het |
Gas2l2 |
T |
C |
11: 83,313,924 (GRCm39) |
I463V |
probably benign |
Het |
Gm5591 |
G |
A |
7: 38,220,072 (GRCm39) |
S267L |
probably benign |
Het |
Gzmk |
A |
G |
13: 113,309,657 (GRCm39) |
V92A |
probably damaging |
Het |
Hspg2 |
C |
T |
4: 137,273,884 (GRCm39) |
R2680W |
probably damaging |
Het |
Insyn2a |
A |
G |
7: 134,520,270 (GRCm39) |
Y87H |
probably damaging |
Het |
Kcnh3 |
G |
A |
15: 99,131,982 (GRCm39) |
V646M |
probably damaging |
Het |
Kcnk7 |
A |
C |
19: 5,756,463 (GRCm39) |
I230L |
probably benign |
Het |
Kif3b |
C |
T |
2: 153,158,594 (GRCm39) |
R132* |
probably null |
Het |
Klra5 |
T |
C |
6: 129,885,776 (GRCm39) |
S128G |
probably benign |
Het |
Krba1 |
C |
T |
6: 48,383,282 (GRCm39) |
R4* |
probably null |
Het |
Krt1c |
T |
A |
15: 101,726,026 (GRCm39) |
I171F |
probably damaging |
Het |
Lss |
A |
G |
10: 76,372,089 (GRCm39) |
D148G |
probably benign |
Het |
Mavs |
G |
T |
2: 131,082,370 (GRCm39) |
A85S |
probably damaging |
Het |
Mipep |
T |
C |
14: 61,140,865 (GRCm39) |
C566R |
probably damaging |
Het |
Myocd |
T |
A |
11: 65,069,254 (GRCm39) |
|
probably benign |
Het |
Ndufa9 |
C |
T |
6: 126,804,498 (GRCm39) |
|
probably null |
Het |
Nolc1 |
G |
A |
19: 46,071,959 (GRCm39) |
G583D |
probably damaging |
Het |
Nucb2 |
T |
C |
7: 116,127,059 (GRCm39) |
|
probably null |
Het |
Or1i2 |
T |
C |
10: 78,448,409 (GRCm39) |
D22G |
probably benign |
Het |
Or52e19 |
C |
T |
7: 102,959,165 (GRCm39) |
T79I |
probably benign |
Het |
Or5p63 |
A |
T |
7: 107,811,301 (GRCm39) |
I145N |
possibly damaging |
Het |
Pank4 |
C |
A |
4: 155,061,076 (GRCm39) |
D508E |
probably benign |
Het |
Phb1 |
T |
A |
11: 95,562,416 (GRCm39) |
|
probably benign |
Het |
Pign |
T |
A |
1: 105,449,715 (GRCm39) |
|
probably benign |
Het |
Plec |
T |
C |
15: 76,076,382 (GRCm39) |
K349E |
probably benign |
Het |
Ppp1r3c |
A |
T |
19: 36,711,743 (GRCm39) |
V9E |
possibly damaging |
Het |
Rap1gap |
T |
A |
4: 137,443,422 (GRCm39) |
V130D |
probably damaging |
Het |
Senp3 |
T |
A |
11: 69,567,944 (GRCm39) |
Y432F |
probably benign |
Het |
Serpina3f |
T |
C |
12: 104,183,549 (GRCm39) |
I137T |
possibly damaging |
Het |
Slc46a3 |
T |
A |
5: 147,823,540 (GRCm39) |
K101* |
probably null |
Het |
Snph |
G |
A |
2: 151,436,434 (GRCm39) |
Q96* |
probably null |
Het |
Sptb |
A |
T |
12: 76,630,581 (GRCm39) |
C2244* |
probably null |
Het |
Srbd1 |
A |
T |
17: 86,416,693 (GRCm39) |
F488L |
probably benign |
Het |
Ssc5d |
A |
T |
7: 4,932,524 (GRCm39) |
H396L |
probably damaging |
Het |
Sulf1 |
A |
C |
1: 12,856,876 (GRCm39) |
R42S |
probably damaging |
Het |
Taf1a |
T |
A |
1: 183,181,752 (GRCm39) |
|
probably benign |
Het |
Thoc5 |
T |
A |
11: 4,876,218 (GRCm39) |
M609K |
probably damaging |
Het |
Tiam2 |
A |
T |
17: 3,568,617 (GRCm39) |
I1588F |
probably damaging |
Het |
Tmcc1 |
C |
T |
6: 116,020,247 (GRCm39) |
V402I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,818,358 (GRCm39) |
D524G |
probably damaging |
Het |
Trbv31 |
T |
C |
6: 41,534,901 (GRCm39) |
I21V |
probably benign |
Het |
Vmn1r74 |
A |
T |
7: 11,581,398 (GRCm39) |
T233S |
possibly damaging |
Het |
Vmn1r74 |
G |
C |
7: 11,581,403 (GRCm39) |
Q234H |
probably damaging |
Het |
Vsx1 |
A |
T |
2: 150,530,529 (GRCm39) |
S118T |
probably benign |
Het |
Wnt9b |
G |
A |
11: 103,621,949 (GRCm39) |
T236I |
probably benign |
Het |
Zbtb21 |
T |
C |
16: 97,751,092 (GRCm39) |
T1092A |
possibly damaging |
Het |
Zc3hc1 |
G |
A |
6: 30,387,523 (GRCm39) |
T52I |
probably benign |
Het |
Zfp558 |
T |
A |
9: 18,367,577 (GRCm39) |
N404Y |
possibly damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,031 (GRCm39) |
D325V |
probably 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 |
R4003:Zhx3
|
UTSW |
2 |
160,622,809 (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'- ACAGATGAGCTAGCACTGTCAGG -3'
(R):5'- TGTGGAGTCTCTGCCTGAAG -3'
Sequencing Primer
(F):5'- TAGCACTGTCAGGGACACTCTG -3'
(R):5'- AGTCTCTGCCTGAAGGTCCC -3'
|
Posted On |
2015-09-25 |