Incidental Mutation 'R4072:Zbbx'
ID |
316321 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
040854-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4072 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 75012978 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Glutamic Acid
at position 151
(G151E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039269
AA Change: G151E
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: G151E
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107775
AA Change: G151E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: G151E
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107776
AA Change: G151E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: G151E
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107778
AA Change: G151E
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: G151E
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Meta Mutation Damage Score |
0.1153 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930590J08Rik |
A |
G |
6: 91,922,342 (GRCm39) |
|
probably null |
Het |
Abcc5 |
A |
G |
16: 20,152,445 (GRCm39) |
I1367T |
probably damaging |
Het |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Acss3 |
C |
T |
10: 106,959,446 (GRCm39) |
|
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Ankar |
G |
T |
1: 72,727,751 (GRCm39) |
D169E |
probably damaging |
Het |
Arfgap3 |
C |
T |
15: 83,187,330 (GRCm39) |
A510T |
probably damaging |
Het |
Atp4a |
T |
C |
7: 30,414,757 (GRCm39) |
I182T |
probably benign |
Het |
Axl |
A |
G |
7: 25,463,336 (GRCm39) |
|
probably benign |
Het |
Baz1a |
A |
G |
12: 54,988,345 (GRCm39) |
I268T |
probably benign |
Het |
Baz2b |
A |
T |
2: 59,742,917 (GRCm39) |
|
probably null |
Het |
C2cd4d |
C |
A |
3: 94,271,185 (GRCm39) |
C150* |
probably null |
Het |
Crtac1 |
T |
C |
19: 42,293,146 (GRCm39) |
Y321C |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,070,227 (GRCm39) |
H1526R |
probably damaging |
Het |
Dnah5 |
A |
T |
15: 28,340,444 (GRCm39) |
R2284* |
probably null |
Het |
Dnah9 |
T |
C |
11: 65,975,730 (GRCm39) |
T1440A |
probably benign |
Het |
Eps15l1 |
A |
G |
8: 73,134,128 (GRCm39) |
I482T |
probably damaging |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Eva1c |
T |
A |
16: 90,701,019 (GRCm39) |
F331Y |
probably damaging |
Het |
Fcho1 |
T |
C |
8: 72,163,013 (GRCm39) |
H672R |
probably damaging |
Het |
Galntl5 |
A |
T |
5: 25,403,478 (GRCm39) |
K150* |
probably null |
Het |
Gm19965 |
A |
G |
1: 116,748,801 (GRCm39) |
T161A |
probably benign |
Het |
Hydin |
G |
A |
8: 111,231,888 (GRCm39) |
E1617K |
possibly damaging |
Het |
Krtap31-1 |
T |
C |
11: 99,799,058 (GRCm39) |
I87T |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,888,009 (GRCm39) |
I7652T |
unknown |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5b3 |
G |
A |
19: 13,388,299 (GRCm39) |
R122H |
possibly damaging |
Het |
Or8u8 |
T |
A |
2: 86,011,991 (GRCm39) |
M155L |
probably benign |
Het |
Pde7a |
G |
A |
3: 19,311,017 (GRCm39) |
R70C |
probably damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,865,819 (GRCm39) |
I742T |
probably damaging |
Het |
Pot1a |
T |
C |
6: 25,752,356 (GRCm39) |
|
probably null |
Het |
Pramel33 |
A |
T |
5: 93,633,057 (GRCm39) |
M50K |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,265,581 (GRCm39) |
E389V |
probably damaging |
Het |
Scnn1a |
A |
G |
6: 125,315,870 (GRCm39) |
N407S |
probably damaging |
Het |
Slc30a7 |
T |
C |
3: 115,740,329 (GRCm39) |
D374G |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,945,201 (GRCm39) |
I192N |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,146,098 (GRCm39) |
T633K |
probably benign |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Tmprss11e |
T |
C |
5: 86,863,502 (GRCm39) |
T188A |
possibly damaging |
Het |
Tox |
T |
C |
4: 6,842,396 (GRCm39) |
T45A |
probably damaging |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Vwc2 |
T |
A |
11: 11,066,446 (GRCm39) |
L178Q |
probably damaging |
Het |
Zbtb11 |
C |
T |
16: 55,818,427 (GRCm39) |
T617I |
possibly damaging |
Het |
|
Other mutations in Zbbx |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00561:Zbbx
|
APN |
3 |
74,968,839 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01328:Zbbx
|
APN |
3 |
75,000,382 (GRCm39) |
nonsense |
probably null |
|
IGL01340:Zbbx
|
APN |
3 |
75,012,957 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL01631:Zbbx
|
APN |
3 |
74,985,984 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01681:Zbbx
|
APN |
3 |
74,959,785 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02427:Zbbx
|
APN |
3 |
75,046,905 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03077:Zbbx
|
APN |
3 |
74,989,153 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL03115:Zbbx
|
APN |
3 |
74,985,867 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03162:Zbbx
|
APN |
3 |
74,978,930 (GRCm39) |
splice site |
probably benign |
|
Eland
|
UTSW |
3 |
74,979,019 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4480001:Zbbx
|
UTSW |
3 |
75,043,794 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4495001:Zbbx
|
UTSW |
3 |
74,968,944 (GRCm39) |
missense |
probably damaging |
1.00 |
R0179:Zbbx
|
UTSW |
3 |
74,992,869 (GRCm39) |
splice site |
probably benign |
|
R0396:Zbbx
|
UTSW |
3 |
74,985,802 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0523:Zbbx
|
UTSW |
3 |
74,989,165 (GRCm39) |
missense |
probably benign |
0.03 |
R0603:Zbbx
|
UTSW |
3 |
74,985,757 (GRCm39) |
missense |
probably benign |
0.05 |
R0745:Zbbx
|
UTSW |
3 |
75,062,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R0747:Zbbx
|
UTSW |
3 |
75,062,734 (GRCm39) |
missense |
probably damaging |
1.00 |
R1208:Zbbx
|
UTSW |
3 |
74,945,299 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1208:Zbbx
|
UTSW |
3 |
74,945,299 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1371:Zbbx
|
UTSW |
3 |
74,959,784 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1769:Zbbx
|
UTSW |
3 |
74,990,926 (GRCm39) |
splice site |
probably benign |
|
R1906:Zbbx
|
UTSW |
3 |
74,979,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Zbbx
|
UTSW |
3 |
74,985,719 (GRCm39) |
missense |
probably benign |
0.01 |
R2165:Zbbx
|
UTSW |
3 |
75,019,414 (GRCm39) |
missense |
probably damaging |
0.99 |
R2174:Zbbx
|
UTSW |
3 |
74,959,721 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2979:Zbbx
|
UTSW |
3 |
74,985,793 (GRCm39) |
nonsense |
probably null |
|
R3121:Zbbx
|
UTSW |
3 |
74,989,153 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3755:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R3756:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R3816:Zbbx
|
UTSW |
3 |
74,992,802 (GRCm39) |
missense |
probably benign |
0.00 |
R4002:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4003:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4057:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4073:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4075:Zbbx
|
UTSW |
3 |
75,012,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R4114:Zbbx
|
UTSW |
3 |
75,046,905 (GRCm39) |
missense |
probably benign |
0.04 |
R4784:Zbbx
|
UTSW |
3 |
74,992,348 (GRCm39) |
missense |
probably benign |
0.05 |
R4821:Zbbx
|
UTSW |
3 |
74,989,054 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5008:Zbbx
|
UTSW |
3 |
75,058,755 (GRCm39) |
missense |
possibly damaging |
0.62 |
R5030:Zbbx
|
UTSW |
3 |
74,990,990 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5388:Zbbx
|
UTSW |
3 |
74,990,977 (GRCm39) |
missense |
probably damaging |
0.98 |
R6398:Zbbx
|
UTSW |
3 |
74,985,872 (GRCm39) |
missense |
probably damaging |
0.96 |
R6462:Zbbx
|
UTSW |
3 |
74,985,966 (GRCm39) |
missense |
probably benign |
0.07 |
R6597:Zbbx
|
UTSW |
3 |
75,043,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R6882:Zbbx
|
UTSW |
3 |
74,979,019 (GRCm39) |
missense |
probably benign |
0.01 |
R7084:Zbbx
|
UTSW |
3 |
75,046,853 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7096:Zbbx
|
UTSW |
3 |
74,989,044 (GRCm39) |
missense |
probably benign |
0.03 |
R7102:Zbbx
|
UTSW |
3 |
75,019,401 (GRCm39) |
missense |
probably benign |
0.06 |
R7256:Zbbx
|
UTSW |
3 |
74,947,205 (GRCm39) |
missense |
probably benign |
0.02 |
R7537:Zbbx
|
UTSW |
3 |
74,992,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R7836:Zbbx
|
UTSW |
3 |
74,985,781 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7905:Zbbx
|
UTSW |
3 |
74,992,820 (GRCm39) |
missense |
probably benign |
0.23 |
R8110:Zbbx
|
UTSW |
3 |
75,062,749 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8367:Zbbx
|
UTSW |
3 |
74,989,034 (GRCm39) |
critical splice donor site |
probably null |
|
R8772:Zbbx
|
UTSW |
3 |
75,062,692 (GRCm39) |
missense |
probably benign |
0.37 |
R8859:Zbbx
|
UTSW |
3 |
74,968,741 (GRCm39) |
missense |
unknown |
|
R9012:Zbbx
|
UTSW |
3 |
74,968,960 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9062:Zbbx
|
UTSW |
3 |
74,989,124 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9119:Zbbx
|
UTSW |
3 |
74,985,897 (GRCm39) |
missense |
probably damaging |
0.99 |
R9401:Zbbx
|
UTSW |
3 |
75,019,390 (GRCm39) |
missense |
probably benign |
0.26 |
R9531:Zbbx
|
UTSW |
3 |
74,985,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R9678:Zbbx
|
UTSW |
3 |
75,046,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9736:Zbbx
|
UTSW |
3 |
74,968,741 (GRCm39) |
missense |
unknown |
|
R9780:Zbbx
|
UTSW |
3 |
74,945,359 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Zbbx
|
UTSW |
3 |
75,012,991 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Zbbx
|
UTSW |
3 |
74,979,090 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGGAAGCTCTAGCAAATTG -3'
(R):5'- TCTGAGCCAACCATTTATAACTGC -3'
Sequencing Primer
(F):5'- GCTCTTTATTGGTTTTAAGCATCAC -3'
(R):5'- TCATGTCCTGATAAGATGCAGG -3'
|
Posted On |
2015-05-15 |