Incidental Mutation 'IGL03115:Zbbx'
| ID |
419369 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zbbx
|
| Ensembl Gene |
ENSMUSG00000034151 |
| Gene Name |
zinc finger, B-box domain containing |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL03115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74985867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 395
(D395G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
| AlphaFold |
Q0P5X5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039269
AA Change: D390G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107775
|
| SMART Domains |
Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107776
AA Change: D390G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: D390G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107778
AA Change: D395G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: D395G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
T |
A |
14: 68,808,802 (GRCm39) |
H302L |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,263,422 (GRCm39) |
C595S |
probably damaging |
Het |
| Arid2 |
G |
A |
15: 96,268,154 (GRCm39) |
V756I |
probably damaging |
Het |
| Asah1 |
A |
T |
8: 41,813,336 (GRCm39) |
W26R |
possibly damaging |
Het |
| Brinp1 |
C |
T |
4: 68,822,973 (GRCm39) |
|
probably null |
Het |
| Cers2 |
A |
G |
3: 95,228,663 (GRCm39) |
D162G |
probably damaging |
Het |
| Clasp1 |
G |
T |
1: 118,429,053 (GRCm39) |
E106* |
probably null |
Het |
| Col12a1 |
T |
C |
9: 79,588,719 (GRCm39) |
E1132G |
probably damaging |
Het |
| Dhdds |
G |
T |
4: 133,710,182 (GRCm39) |
H196N |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,504,379 (GRCm39) |
D118G |
probably damaging |
Het |
| Fmo9 |
A |
G |
1: 166,505,220 (GRCm39) |
S7P |
probably damaging |
Het |
| Gamt |
A |
G |
10: 80,094,272 (GRCm39) |
L197P |
probably damaging |
Het |
| Grb7 |
A |
G |
11: 98,341,945 (GRCm39) |
I82V |
probably damaging |
Het |
| Hectd2 |
T |
C |
19: 36,577,121 (GRCm39) |
|
probably null |
Het |
| Ilk |
T |
C |
7: 105,389,542 (GRCm39) |
V83A |
probably damaging |
Het |
| Kif21a |
T |
A |
15: 90,869,598 (GRCm39) |
I418F |
probably damaging |
Het |
| Kndc1 |
A |
G |
7: 139,501,425 (GRCm39) |
I905V |
probably benign |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Morc3 |
T |
C |
16: 93,667,971 (GRCm39) |
I710T |
probably damaging |
Het |
| Nefm |
T |
C |
14: 68,357,728 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
C |
9: 39,862,040 (GRCm39) |
E9G |
probably damaging |
Het |
| Or2f2 |
A |
G |
6: 42,767,599 (GRCm39) |
T209A |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,259 (GRCm39) |
R234S |
probably damaging |
Het |
| Pard6g |
T |
G |
18: 80,123,068 (GRCm39) |
L34W |
probably damaging |
Het |
| Patj |
C |
T |
4: 98,332,040 (GRCm39) |
S562L |
probably damaging |
Het |
| Pcsk4 |
A |
G |
10: 80,164,883 (GRCm39) |
I61T |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,825,670 (GRCm39) |
H300Q |
probably damaging |
Het |
| Pip5kl1 |
A |
G |
2: 32,470,033 (GRCm39) |
D288G |
probably damaging |
Het |
| Plxnb2 |
T |
A |
15: 89,046,641 (GRCm39) |
|
probably benign |
Het |
| Poldip2 |
T |
C |
11: 78,411,970 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,266,734 (GRCm39) |
Y614C |
probably damaging |
Het |
| Rarres1 |
C |
A |
3: 67,403,145 (GRCm39) |
|
probably null |
Het |
| Samd3 |
C |
T |
10: 26,147,606 (GRCm39) |
T427M |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,593,446 (GRCm39) |
I98V |
probably benign |
Het |
| Skint11 |
T |
C |
4: 114,101,820 (GRCm39) |
S87P |
probably damaging |
Het |
| Slc22a22 |
T |
G |
15: 57,126,670 (GRCm39) |
E133A |
probably damaging |
Het |
| Slc23a2 |
T |
C |
2: 131,933,185 (GRCm39) |
Y91C |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,426,403 (GRCm39) |
E494V |
possibly damaging |
Het |
| Slco1a4 |
A |
T |
6: 141,765,329 (GRCm39) |
D304E |
probably benign |
Het |
| Slco1a4 |
A |
C |
6: 141,763,585 (GRCm39) |
M377R |
probably damaging |
Het |
| Srpk2 |
T |
C |
5: 23,729,616 (GRCm39) |
|
probably null |
Het |
| Supt3 |
T |
G |
17: 45,352,114 (GRCm39) |
C271W |
probably damaging |
Het |
| Taar7d |
C |
A |
10: 23,903,539 (GRCm39) |
F140L |
probably benign |
Het |
| Tmbim7 |
T |
C |
5: 3,729,158 (GRCm39) |
*225Q |
probably null |
Het |
| Tpst1 |
T |
C |
5: 130,130,752 (GRCm39) |
I74T |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,179 (GRCm39) |
V236A |
possibly damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,558 (GRCm39) |
F282I |
probably damaging |
Het |
| Vwa5b1 |
A |
T |
4: 138,327,460 (GRCm39) |
I372N |
possibly damaging |
Het |
| Wtip |
C |
T |
7: 33,824,958 (GRCm39) |
A209T |
probably damaging |
Het |
| Zfp273 |
A |
T |
13: 67,973,769 (GRCm39) |
H299L |
probably damaging |
Het |
| Zfp459 |
G |
A |
13: 67,556,796 (GRCm39) |
R96* |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation