Incidental Mutation 'R5952:Zhx3'
| ID |
470936 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zhx3
|
| Ensembl Gene |
ENSMUSG00000035877 |
| Gene Name |
zinc fingers and homeoboxes 3 |
| Synonyms |
Tix1, 1810059C13Rik, 9530010N21Rik, 4932418O04Rik |
| MMRRC Submission |
044142-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5952 (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 160623937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 77
(Y77N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103111]
[ENSMUST00000103112]
[ENSMUST00000109460]
[ENSMUST00000127201]
[ENSMUST00000176141]
|
| AlphaFold |
Q8C0Q2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103111
AA Change: Y77N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099400
Gene: ENSMUSG00000035877
AA Change: Y77N
| 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: Y77N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099401
Gene: ENSMUSG00000035877
AA Change: Y77N
| 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: Y77N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105086
Gene: ENSMUSG00000035877
AA Change: Y77N
| 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: Y77N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120488
Gene: ENSMUSG00000035877
AA Change: Y77N
| 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 damaging
Transcript: ENSMUST00000176141
AA Change: Y77N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134763
Gene: ENSMUSG00000035877
AA Change: Y77N
| 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 |
0.6457 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
91% (62/68) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
A |
T |
6: 86,086,728 (GRCm39) |
D296V |
probably damaging |
Het |
| Ak9 |
A |
G |
10: 41,233,559 (GRCm39) |
E599G |
possibly damaging |
Het |
| Ank3 |
A |
T |
10: 69,822,293 (GRCm39) |
I1604F |
probably benign |
Het |
| Arid4a |
A |
G |
12: 71,109,980 (GRCm39) |
D107G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,019,770 (GRCm39) |
T2060A |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,666,978 (GRCm39) |
I209N |
probably benign |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
A |
G |
15: 47,596,901 (GRCm39) |
V1979A |
probably damaging |
Het |
| Cyp4a12b |
C |
T |
4: 115,271,714 (GRCm39) |
R142* |
probably null |
Het |
| Ddx23 |
A |
T |
15: 98,556,121 (GRCm39) |
S66T |
unknown |
Het |
| Efcab2 |
A |
G |
1: 178,303,439 (GRCm39) |
K121R |
probably benign |
Het |
| Epb41l1 |
T |
A |
2: 156,345,708 (GRCm39) |
V237D |
probably damaging |
Het |
| Epb41l1 |
G |
T |
2: 156,366,903 (GRCm39) |
A579S |
probably benign |
Het |
| Epn1 |
G |
A |
7: 5,096,911 (GRCm39) |
R231H |
probably damaging |
Het |
| Fbrs |
T |
C |
7: 127,086,924 (GRCm39) |
S649P |
probably damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,427 (GRCm39) |
V216A |
probably benign |
Het |
| Gen1 |
A |
T |
12: 11,310,897 (GRCm39) |
S112T |
probably damaging |
Het |
| Glrx2 |
A |
G |
1: 143,620,872 (GRCm39) |
N84D |
probably benign |
Het |
| Gm1818 |
T |
G |
12: 48,602,719 (GRCm39) |
|
noncoding transcript |
Het |
| Hira |
C |
A |
16: 18,753,815 (GRCm39) |
T553K |
possibly damaging |
Het |
| Hnrnph3 |
A |
G |
10: 62,851,374 (GRCm39) |
|
probably benign |
Het |
| Ighv12-3 |
A |
T |
12: 114,330,204 (GRCm39) |
F97Y |
probably benign |
Het |
| Jcad |
A |
G |
18: 4,674,554 (GRCm39) |
Q772R |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,014,670 (GRCm39) |
T610A |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,750,477 (GRCm39) |
D958G |
probably benign |
Het |
| Map4k4 |
G |
A |
1: 40,039,082 (GRCm39) |
|
probably benign |
Het |
| Mocos |
T |
C |
18: 24,834,444 (GRCm39) |
V827A |
possibly damaging |
Het |
| Ms4a10 |
T |
A |
19: 10,941,486 (GRCm39) |
D161V |
probably damaging |
Het |
| Myh9 |
A |
G |
15: 77,657,532 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,370,246 (GRCm39) |
E1002G |
possibly damaging |
Het |
| Neurod6 |
G |
A |
6: 55,656,002 (GRCm39) |
H212Y |
probably damaging |
Het |
| Or2v1 |
A |
T |
11: 49,025,399 (GRCm39) |
I95F |
probably damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,174 (GRCm39) |
I217N |
probably damaging |
Het |
| Or5b12 |
T |
C |
19: 12,897,194 (GRCm39) |
N160D |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,133 (GRCm39) |
V641A |
probably benign |
Het |
| Ppp3ca |
A |
T |
3: 136,634,332 (GRCm39) |
M431L |
probably benign |
Het |
| Ptprk |
A |
T |
10: 28,461,671 (GRCm39) |
I69F |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,081,094 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,406 (GRCm39) |
N619S |
probably benign |
Het |
| Rnf169 |
T |
C |
7: 99,574,840 (GRCm39) |
H585R |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,617,617 (GRCm39) |
V129A |
probably benign |
Het |
| Siglecf |
C |
T |
7: 43,005,351 (GRCm39) |
T437M |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,771,335 (GRCm39) |
N65D |
probably benign |
Het |
| Spire1 |
A |
G |
18: 67,639,779 (GRCm39) |
S245P |
probably benign |
Het |
| Sptb |
A |
T |
12: 76,679,158 (GRCm39) |
M99K |
probably benign |
Het |
| Tacc1 |
G |
T |
8: 25,672,011 (GRCm39) |
L406I |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,476 (GRCm39) |
I102T |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,949,952 (GRCm39) |
|
probably null |
Het |
| Trbv11 |
A |
G |
6: 41,084,153 (GRCm39) |
|
noncoding transcript |
Het |
| Trmt11 |
A |
G |
10: 30,436,838 (GRCm39) |
Y301H |
probably benign |
Het |
| Tspo |
A |
G |
15: 83,456,441 (GRCm39) |
T75A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,710,569 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,462,030 (GRCm39) |
Q1210R |
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 |
|
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 |
|
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'- CTGGCTTGGTCACATTCCAC -3'
(R):5'- ATGATCCCCGTTAAGACCGTG -3'
Sequencing Primer
(F):5'- AAAAGCTGGCTTCCCCTGAG -3'
(R):5'- TTAAGACCGTGGTGCTGCC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation