Incidental Mutation 'R7084:Zbbx'
ID |
549731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
045178-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R7084 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75046853 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 22
(N22S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
[ENSMUST00000124618]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039269
AA Change: N22S
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: N22S
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107775
AA Change: N22S
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: N22S
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107776
AA Change: N22S
PolyPhen 2
Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: N22S
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107778
AA Change: N22S
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: N22S
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124618
AA Change: N138S
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122459 Gene: ENSMUSG00000034151 AA Change: N138S
Domain | Start | End | E-Value | Type |
coiled coil region
|
23 |
60 |
N/A |
INTRINSIC |
Pfam:zf-B_box
|
128 |
174 |
1.3e-7 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (81/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
T |
13: 119,624,721 (GRCm39) |
D8E |
unknown |
Het |
Abca5 |
T |
A |
11: 110,192,371 (GRCm39) |
I714L |
probably benign |
Het |
Abce1 |
T |
A |
8: 80,426,043 (GRCm39) |
S245C |
probably benign |
Het |
Abcg1 |
T |
A |
17: 31,325,105 (GRCm39) |
D310E |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,637,030 (GRCm39) |
I394N |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,591 (GRCm39) |
D2691V |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,748,734 (GRCm39) |
T340A |
possibly damaging |
Het |
Arsb |
A |
T |
13: 94,077,124 (GRCm39) |
Q497L |
probably benign |
Het |
Asic5 |
T |
C |
3: 81,919,318 (GRCm39) |
I354T |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,924,868 (GRCm39) |
C318R |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,226,137 (GRCm39) |
Y362H |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,741,716 (GRCm39) |
Y113H |
probably benign |
Het |
Dcaf4 |
AT |
A |
12: 83,584,571 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
A |
1: 80,481,573 (GRCm39) |
I475F |
|
Het |
Dqx1 |
T |
A |
6: 83,043,436 (GRCm39) |
Y674N |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,113,214 (GRCm39) |
Q2437K |
possibly damaging |
Het |
Ednra |
A |
T |
8: 78,391,734 (GRCm39) |
C385* |
probably null |
Het |
Fam216a |
G |
A |
5: 122,507,623 (GRCm39) |
T68I |
probably benign |
Het |
Fbxw22 |
A |
G |
9: 109,233,291 (GRCm39) |
L14P |
probably damaging |
Het |
Fem1al |
G |
T |
11: 29,775,009 (GRCm39) |
H149Q |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,312,129 (GRCm39) |
I230V |
possibly damaging |
Het |
Ggn |
C |
A |
7: 28,872,423 (GRCm39) |
A637E |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,137,942 (GRCm39) |
D391G |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,117,992 (GRCm39) |
V817D |
possibly damaging |
Het |
Il1f10 |
G |
A |
2: 24,183,682 (GRCm39) |
W120* |
probably null |
Het |
Irf5 |
C |
A |
6: 29,535,876 (GRCm39) |
R297S |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,263,798 (GRCm39) |
T438A |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,644,410 (GRCm39) |
D332G |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,659,582 (GRCm39) |
V832D |
probably damaging |
Het |
Kcnip3 |
C |
T |
2: 127,352,856 (GRCm39) |
S25N |
probably benign |
Het |
Klk1b16 |
C |
T |
7: 43,788,910 (GRCm39) |
H48Y |
probably benign |
Het |
Klrh1 |
C |
A |
6: 129,743,673 (GRCm39) |
A204S |
possibly damaging |
Het |
Krtap5-4 |
G |
A |
7: 141,857,609 (GRCm39) |
C93Y |
unknown |
Het |
Lacc1 |
T |
A |
14: 77,267,096 (GRCm39) |
Q389L |
probably benign |
Het |
Lin9 |
C |
A |
1: 180,515,661 (GRCm39) |
T477K |
probably benign |
Het |
Lpar2 |
A |
T |
8: 70,276,256 (GRCm39) |
N15I |
probably damaging |
Het |
Ltbp2 |
C |
A |
12: 84,915,459 (GRCm39) |
C200F |
probably damaging |
Het |
Mall |
G |
T |
2: 127,550,793 (GRCm39) |
H122Q |
probably benign |
Het |
Mast3 |
T |
C |
8: 71,232,117 (GRCm39) |
I1287V |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,255,220 (GRCm39) |
I566T |
probably benign |
Het |
Mme |
T |
C |
3: 63,235,638 (GRCm39) |
Y195H |
probably damaging |
Het |
Mpzl1 |
T |
C |
1: 165,432,267 (GRCm39) |
T173A |
probably benign |
Het |
Mri1 |
G |
T |
8: 84,977,708 (GRCm39) |
T209N |
|
Het |
Myo1e |
A |
G |
9: 70,245,083 (GRCm39) |
I394V |
probably damaging |
Het |
Nat14 |
T |
C |
7: 4,927,329 (GRCm39) |
V167A |
possibly damaging |
Het |
Nfasc |
A |
G |
1: 132,498,247 (GRCm39) |
Y1212H |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,452,764 (GRCm39) |
L493Q |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,464,394 (GRCm39) |
S1637R |
probably benign |
Het |
Ocstamp |
A |
T |
2: 165,239,957 (GRCm39) |
Y76* |
probably null |
Het |
Or5b95 |
A |
C |
19: 12,658,198 (GRCm39) |
H242P |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,416 (GRCm39) |
K293* |
probably null |
Het |
Or8b52 |
G |
A |
9: 38,576,565 (GRCm39) |
R192C |
probably benign |
Het |
Otog |
T |
A |
7: 45,947,990 (GRCm39) |
C145* |
probably null |
Het |
Padi6 |
T |
A |
4: 140,468,869 (GRCm39) |
K5* |
probably null |
Het |
Pcdha5 |
T |
A |
18: 37,094,615 (GRCm39) |
S375T |
probably benign |
Het |
Pde10a |
C |
T |
17: 9,159,994 (GRCm39) |
P140S |
probably benign |
Het |
Pgbd1 |
C |
G |
13: 21,607,300 (GRCm39) |
C298S |
possibly damaging |
Het |
Plch2 |
C |
T |
4: 155,071,448 (GRCm39) |
G977D |
probably benign |
Het |
Pou2f3 |
T |
C |
9: 43,040,188 (GRCm39) |
T367A |
probably damaging |
Het |
Ppm1j |
T |
A |
3: 104,692,276 (GRCm39) |
Y352N |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,226,967 (GRCm39) |
T97A |
probably benign |
Het |
Rpl36a-ps1 |
T |
A |
14: 99,231,660 (GRCm39) |
Y26F |
probably benign |
Het |
Sctr |
A |
T |
1: 119,991,001 (GRCm39) |
N445Y |
possibly damaging |
Het |
Serping1 |
C |
T |
2: 84,603,835 (GRCm39) |
V69I |
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,878,963 (GRCm39) |
L483Q |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,846,586 (GRCm39) |
F37L |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,039,290 (GRCm39) |
M1978K |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,285,995 (GRCm39) |
Q540R |
probably benign |
Het |
Thnsl1 |
G |
T |
2: 21,217,141 (GRCm39) |
R298S |
possibly damaging |
Het |
Tigd5 |
T |
A |
15: 75,782,230 (GRCm39) |
Y197* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,640,059 (GRCm39) |
L203Q |
probably damaging |
Het |
Trim35 |
T |
A |
14: 66,546,271 (GRCm39) |
V346E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,708 (GRCm39) |
I19402V |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,749,689 (GRCm39) |
E3787K |
probably benign |
Het |
Tut1 |
G |
A |
19: 8,942,778 (GRCm39) |
V622I |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,134 (GRCm39) |
I18V |
probably benign |
Het |
Zfp169 |
A |
C |
13: 48,652,339 (GRCm39) |
M26R |
probably benign |
Het |
Zfp180 |
T |
A |
7: 23,804,686 (GRCm39) |
H368Q |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,930,108 (GRCm39) |
S770T |
possibly damaging |
Het |
Znrf1 |
T |
C |
8: 112,263,774 (GRCm39) |
M1T |
probably null |
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 |
R4072: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 |
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'- AGGCAGATATGATTTTAAATGGTGC -3'
(R):5'- CTGTGTGAGAATTTGGAGACGC -3'
Sequencing Primer
(F):5'- TTAAATGGTGCTATTAAGAGAGAGTG -3'
(R):5'- GGAGACGCTCATAGTTTCGTTACC -3'
|
Posted On |
2019-05-15 |