Incidental Mutation 'R5388:Zbbx'
ID |
425393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
042960-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5388 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 74990977 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Aspartic acid
at position 289
(A289D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103405
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039269
AA Change: A289D
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: A289D
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107775
AA Change: A294D
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: A294D
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107776
AA Change: A289D
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: A289D
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107778
AA Change: A294D
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: A294D
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
T |
C |
7: 120,139,969 (GRCm39) |
|
probably null |
Het |
Acap2 |
C |
A |
16: 30,928,543 (GRCm39) |
C475F |
probably damaging |
Het |
Ace |
C |
A |
11: 105,879,284 (GRCm39) |
P603Q |
possibly damaging |
Het |
Adamts20 |
C |
G |
15: 94,243,659 (GRCm39) |
V657L |
possibly damaging |
Het |
Antxr2 |
A |
G |
5: 98,125,458 (GRCm39) |
|
probably null |
Het |
Atp6v1b2 |
G |
A |
8: 69,554,089 (GRCm39) |
V89I |
probably benign |
Het |
Cacna1e |
G |
A |
1: 154,353,542 (GRCm39) |
P676L |
probably damaging |
Het |
Camsap3 |
A |
T |
8: 3,654,276 (GRCm39) |
I649F |
probably damaging |
Het |
Camta1 |
G |
T |
4: 151,159,695 (GRCm39) |
S490R |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,809,719 (GRCm39) |
I2221T |
probably damaging |
Het |
Cfd |
A |
T |
10: 79,727,959 (GRCm39) |
D164V |
probably damaging |
Het |
Cfdp1 |
T |
C |
8: 112,495,384 (GRCm39) |
D278G |
probably damaging |
Het |
Cntn6 |
A |
T |
6: 104,809,523 (GRCm39) |
L519F |
probably damaging |
Het |
Col4a4 |
C |
T |
1: 82,471,312 (GRCm39) |
G681E |
unknown |
Het |
Cybrd1 |
T |
C |
2: 70,967,989 (GRCm39) |
|
probably null |
Het |
Cyp2e1 |
T |
C |
7: 140,343,906 (GRCm39) |
L48P |
probably damaging |
Het |
Eddm13 |
T |
C |
7: 6,269,346 (GRCm39) |
|
probably null |
Het |
Ep400 |
G |
A |
5: 110,849,594 (GRCm39) |
T1409I |
unknown |
Het |
Exosc7 |
A |
T |
9: 122,947,972 (GRCm39) |
D47V |
probably damaging |
Het |
Fgr |
T |
C |
4: 132,722,342 (GRCm39) |
F204L |
probably damaging |
Het |
Gm10100 |
G |
A |
10: 77,562,560 (GRCm39) |
V81M |
probably benign |
Het |
Gm12367 |
T |
C |
4: 35,235,690 (GRCm39) |
|
noncoding transcript |
Het |
Grxcr1 |
C |
A |
5: 68,323,538 (GRCm39) |
T272K |
probably damaging |
Het |
Kcna5 |
C |
T |
6: 126,511,859 (GRCm39) |
D90N |
probably benign |
Het |
Kdm5b |
T |
A |
1: 134,536,635 (GRCm39) |
Y618* |
probably null |
Het |
Lama5 |
T |
A |
2: 179,832,539 (GRCm39) |
H1670L |
possibly damaging |
Het |
Mtus2 |
C |
T |
5: 148,243,518 (GRCm39) |
Q113* |
probably null |
Het |
Ncam1 |
A |
C |
9: 49,456,054 (GRCm39) |
D521E |
probably benign |
Het |
Nkapl |
T |
C |
13: 21,651,740 (GRCm39) |
H291R |
possibly damaging |
Het |
Nlrp1b |
T |
G |
11: 71,062,967 (GRCm39) |
N695H |
probably damaging |
Het |
Npc1l1 |
T |
A |
11: 6,164,733 (GRCm39) |
Q1105H |
probably damaging |
Het |
Paxip1 |
C |
G |
5: 27,986,453 (GRCm39) |
|
probably benign |
Het |
Pign |
A |
T |
1: 105,583,695 (GRCm39) |
W136R |
probably damaging |
Het |
Pira1 |
T |
C |
7: 3,741,856 (GRCm39) |
T175A |
possibly damaging |
Het |
Pkn3 |
T |
A |
2: 29,971,086 (GRCm39) |
S222T |
probably damaging |
Het |
Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
Ppfibp1 |
T |
A |
6: 146,898,338 (GRCm39) |
I98N |
probably damaging |
Het |
Ppfibp1 |
T |
G |
6: 146,917,828 (GRCm39) |
S484A |
probably damaging |
Het |
Ppp1r7 |
T |
C |
1: 93,280,312 (GRCm39) |
F127L |
probably damaging |
Het |
Pramel1 |
T |
C |
4: 143,123,954 (GRCm39) |
Y210H |
probably benign |
Het |
Rad21l |
C |
T |
2: 151,495,403 (GRCm39) |
V427I |
probably benign |
Het |
Ripply1 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
TTCCTCCTCCTCCTCCTCCTCCTCCTCCT |
X: 138,680,599 (GRCm39) |
|
probably benign |
Het |
Rnf225 |
A |
G |
7: 12,661,932 (GRCm39) |
D37G |
probably damaging |
Het |
Smpd2 |
A |
G |
10: 41,363,967 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
C |
10: 82,119,561 (GRCm39) |
Q4483R |
probably damaging |
Het |
Tmem38b |
C |
T |
4: 53,859,945 (GRCm39) |
R242W |
probably benign |
Het |
Topaz1 |
A |
T |
9: 122,603,158 (GRCm39) |
K1035I |
possibly damaging |
Het |
Trhr |
T |
C |
15: 44,060,873 (GRCm39) |
I131T |
possibly damaging |
Het |
Usp1 |
A |
G |
4: 98,819,294 (GRCm39) |
D252G |
probably benign |
Het |
Usp14 |
C |
T |
18: 10,018,023 (GRCm39) |
E90K |
probably damaging |
Het |
Yme1l1 |
T |
G |
2: 23,052,569 (GRCm39) |
D74E |
probably benign |
Het |
Ythdc2 |
T |
A |
18: 44,990,092 (GRCm39) |
L732Q |
possibly damaging |
Het |
Zfhx3 |
G |
A |
8: 109,673,446 (GRCm39) |
V1499I |
possibly damaging |
Het |
Zfp622 |
T |
C |
15: 25,996,285 (GRCm39) |
V184A |
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 |
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 |
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'- CTTTTGGCTACACTGTAGATCAGATC -3'
(R):5'- GTGAATTTCATTTCCCTGGGAAC -3'
Sequencing Primer
(F):5'- AGATCTACCCTATTTCGTCATGTGTG -3'
(R):5'- TTTCATTTCCCTGGGAACATATAAG -3'
|
Posted On |
2016-08-04 |