Incidental Mutation 'IGL03162:Zbbx'
ID |
411491 |
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 # |
IGL03162
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 74978930 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039269
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107776
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107778
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
A |
15: 60,791,581 (GRCm39) |
D92V |
probably damaging |
Het |
Acsl3 |
T |
C |
1: 78,676,887 (GRCm39) |
|
probably null |
Het |
Adam5 |
T |
C |
8: 25,271,620 (GRCm39) |
T596A |
probably benign |
Het |
Adh6a |
T |
A |
3: 138,034,880 (GRCm39) |
Y336* |
probably null |
Het |
Ak3 |
A |
T |
19: 29,000,236 (GRCm39) |
V225D |
possibly damaging |
Het |
Aldh1a7 |
T |
A |
19: 20,685,645 (GRCm39) |
I302F |
probably benign |
Het |
Amdhd1 |
T |
C |
10: 93,367,337 (GRCm39) |
|
probably null |
Het |
Arhgef18 |
G |
A |
8: 3,491,301 (GRCm39) |
|
probably null |
Het |
Caap1 |
A |
T |
4: 94,389,261 (GRCm39) |
|
probably benign |
Het |
Cdhr4 |
G |
A |
9: 107,875,210 (GRCm39) |
G70D |
probably damaging |
Het |
Celsr3 |
T |
C |
9: 108,719,757 (GRCm39) |
F2445S |
probably damaging |
Het |
Cenpc1 |
A |
G |
5: 86,185,764 (GRCm39) |
V249A |
possibly damaging |
Het |
Clca3a2 |
C |
A |
3: 144,512,177 (GRCm39) |
V80F |
probably damaging |
Het |
Col6a1 |
T |
A |
10: 76,553,885 (GRCm39) |
|
probably benign |
Het |
Commd10 |
T |
A |
18: 47,220,117 (GRCm39) |
L198Q |
probably damaging |
Het |
Cyp2d40 |
A |
G |
15: 82,644,243 (GRCm39) |
L294P |
unknown |
Het |
E2f6 |
T |
A |
12: 16,868,909 (GRCm39) |
D77E |
probably benign |
Het |
Elf5 |
T |
A |
2: 103,260,751 (GRCm39) |
H38Q |
possibly damaging |
Het |
Entrep1 |
T |
G |
19: 23,965,824 (GRCm39) |
H225P |
probably damaging |
Het |
Fcrl6 |
A |
G |
1: 172,425,820 (GRCm39) |
V227A |
probably damaging |
Het |
Fhip2b |
G |
T |
14: 70,824,994 (GRCm39) |
D447E |
probably damaging |
Het |
Gabarapl2 |
T |
A |
8: 112,669,168 (GRCm39) |
V42D |
probably benign |
Het |
Gm3543 |
A |
G |
14: 41,802,022 (GRCm39) |
I154T |
possibly damaging |
Het |
Gpr150 |
T |
A |
13: 76,204,950 (GRCm39) |
|
probably benign |
Het |
Gstp3 |
A |
G |
19: 4,109,255 (GRCm39) |
|
probably benign |
Het |
Gzmm |
C |
T |
10: 79,528,790 (GRCm39) |
T64I |
probably damaging |
Het |
Hs3st1 |
T |
A |
5: 39,771,792 (GRCm39) |
K284* |
probably null |
Het |
Ints7 |
A |
G |
1: 191,353,524 (GRCm39) |
|
probably benign |
Het |
Itih2 |
A |
T |
2: 10,131,055 (GRCm39) |
I94N |
probably damaging |
Het |
Kif26b |
A |
G |
1: 178,744,497 (GRCm39) |
N1531S |
probably benign |
Het |
Kif27 |
T |
C |
13: 58,459,021 (GRCm39) |
S937G |
probably benign |
Het |
Klhl2 |
A |
G |
8: 65,207,426 (GRCm39) |
V311A |
probably damaging |
Het |
Klrb1b |
T |
A |
6: 128,795,892 (GRCm39) |
Q109L |
probably null |
Het |
Lrig2 |
A |
G |
3: 104,371,613 (GRCm39) |
F697L |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,764,725 (GRCm39) |
R773G |
probably benign |
Het |
Mrgpra2b |
C |
T |
7: 47,113,815 (GRCm39) |
V306I |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,368,463 (GRCm39) |
H1127R |
probably benign |
Het |
Nr3c2 |
A |
T |
8: 77,944,213 (GRCm39) |
D816V |
probably damaging |
Het |
Ntmt2 |
T |
A |
1: 163,530,783 (GRCm39) |
I219L |
probably damaging |
Het |
Or10a3 |
T |
C |
7: 108,480,811 (GRCm39) |
M1V |
probably null |
Het |
Or5w19 |
A |
C |
2: 87,698,484 (GRCm39) |
M50L |
probably benign |
Het |
Pdxdc1 |
A |
G |
16: 13,675,281 (GRCm39) |
L350P |
probably damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pnpla7 |
T |
C |
2: 24,905,301 (GRCm39) |
|
probably benign |
Het |
Ppan |
T |
G |
9: 20,802,608 (GRCm39) |
L283R |
probably damaging |
Het |
Rbfox3 |
A |
C |
11: 118,387,257 (GRCm39) |
S286A |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,812,330 (GRCm39) |
T273A |
probably benign |
Het |
Recql4 |
G |
T |
15: 76,590,296 (GRCm39) |
|
probably null |
Het |
Slc22a26 |
T |
A |
19: 7,779,466 (GRCm39) |
M117L |
probably benign |
Het |
Sult2a2 |
T |
A |
7: 13,468,822 (GRCm39) |
I96K |
probably damaging |
Het |
Tcf15 |
G |
A |
2: 151,990,626 (GRCm39) |
R175H |
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,247,037 (GRCm39) |
V320D |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,914,286 (GRCm39) |
N617S |
probably damaging |
Het |
Vpreb3 |
A |
G |
10: 75,785,133 (GRCm39) |
Y77C |
probably damaging |
Het |
Zfand6 |
A |
T |
7: 84,283,185 (GRCm39) |
S57R |
probably benign |
Het |
Zmym2 |
A |
G |
14: 57,151,500 (GRCm39) |
I462V |
probably benign |
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 |
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 |