Incidental Mutation 'R1906:Zbbx'
ID |
214351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
039925-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R1906 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74979047 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 467
(Y467H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039269
AA Change: Y462H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: Y462H
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107776
AA Change: Y462H
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: Y462H
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107778
AA Change: Y467H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: Y467H
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aass |
G |
A |
6: 23,072,984 (GRCm39) |
T923I |
probably benign |
Het |
Abhd13 |
T |
A |
8: 10,038,170 (GRCm39) |
C256S |
probably benign |
Het |
Adamts5 |
C |
T |
16: 85,665,573 (GRCm39) |
W576* |
probably null |
Het |
Adnp |
A |
T |
2: 168,024,287 (GRCm39) |
S1003T |
probably benign |
Het |
AI987944 |
C |
T |
7: 41,024,550 (GRCm39) |
R146Q |
probably benign |
Het |
Apol6 |
G |
T |
15: 76,935,060 (GRCm39) |
V110F |
probably damaging |
Het |
Arhgap27 |
A |
G |
11: 103,223,751 (GRCm39) |
F651L |
probably damaging |
Het |
Atm |
T |
C |
9: 53,417,868 (GRCm39) |
D813G |
probably damaging |
Het |
Casd1 |
T |
A |
6: 4,641,979 (GRCm39) |
I752N |
probably damaging |
Het |
Cdr2 |
A |
G |
7: 120,581,224 (GRCm39) |
Y18H |
probably damaging |
Het |
Cntn4 |
T |
C |
6: 106,330,607 (GRCm39) |
F75S |
probably benign |
Het |
Col20a1 |
G |
A |
2: 180,640,490 (GRCm39) |
R549H |
probably benign |
Het |
Col28a1 |
A |
T |
6: 7,999,644 (GRCm39) |
N1024K |
probably benign |
Het |
Dnah10 |
T |
A |
5: 124,878,048 (GRCm39) |
V2654D |
probably damaging |
Het |
Dnph1 |
A |
T |
17: 46,807,787 (GRCm39) |
I18F |
probably damaging |
Het |
Dsn1 |
G |
A |
2: 156,838,163 (GRCm39) |
R334W |
probably damaging |
Het |
Egf |
T |
A |
3: 129,518,873 (GRCm39) |
K325N |
probably benign |
Het |
Eps15 |
T |
G |
4: 109,181,398 (GRCm39) |
S311A |
possibly damaging |
Het |
Fmo3 |
G |
T |
1: 162,794,475 (GRCm39) |
D198E |
probably damaging |
Het |
Folh1 |
C |
G |
7: 86,391,374 (GRCm39) |
|
probably null |
Het |
Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
Gm10604 |
T |
G |
4: 11,979,989 (GRCm39) |
D105A |
unknown |
Het |
Gpx8 |
A |
G |
13: 113,182,110 (GRCm39) |
C108R |
probably damaging |
Het |
Herc2 |
A |
T |
7: 55,764,612 (GRCm39) |
I1013L |
probably benign |
Het |
Hyal4 |
T |
G |
6: 24,756,110 (GRCm39) |
N109K |
probably damaging |
Het |
Il22ra1 |
T |
G |
4: 135,478,544 (GRCm39) |
C538W |
probably damaging |
Het |
Ints13 |
A |
T |
6: 146,453,868 (GRCm39) |
|
probably null |
Het |
Krt75 |
T |
A |
15: 101,481,801 (GRCm39) |
T156S |
possibly damaging |
Het |
Lama2 |
A |
C |
10: 26,932,523 (GRCm39) |
|
probably null |
Het |
Lifr |
G |
T |
15: 7,217,612 (GRCm39) |
V847L |
probably damaging |
Het |
Lmf1 |
T |
A |
17: 25,831,309 (GRCm39) |
I185N |
probably damaging |
Het |
Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
Ms4a15 |
T |
C |
19: 10,960,644 (GRCm39) |
I94V |
probably benign |
Het |
Mycbpap |
A |
T |
11: 94,396,447 (GRCm39) |
M131K |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,240,211 (GRCm39) |
M920K |
possibly damaging |
Het |
Neb |
A |
G |
2: 52,198,538 (GRCm39) |
Y437H |
probably damaging |
Het |
Npy5r |
A |
T |
8: 67,134,125 (GRCm39) |
W223R |
probably damaging |
Het |
Or10ak11 |
G |
A |
4: 118,687,467 (GRCm39) |
H56Y |
probably damaging |
Het |
Or10x4 |
C |
A |
1: 174,218,730 (GRCm39) |
L32M |
probably damaging |
Het |
Or4c114 |
A |
G |
2: 88,905,414 (GRCm39) |
V7A |
possibly damaging |
Het |
Or6c6c |
T |
G |
10: 129,541,365 (GRCm39) |
V206G |
probably benign |
Het |
Polg |
T |
C |
7: 79,110,070 (GRCm39) |
K353E |
probably damaging |
Het |
Proz |
C |
G |
8: 13,123,686 (GRCm39) |
|
probably null |
Het |
Pus7 |
T |
C |
5: 23,983,209 (GRCm39) |
D86G |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,583,673 (GRCm39) |
V386A |
probably benign |
Het |
Rigi |
T |
C |
4: 40,206,054 (GRCm39) |
K846R |
probably benign |
Het |
Sptbn4 |
A |
G |
7: 27,090,856 (GRCm39) |
|
probably null |
Het |
Srp68 |
A |
T |
11: 116,141,587 (GRCm39) |
I424N |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,526,908 (GRCm39) |
E1055G |
probably benign |
Het |
Taf4b |
A |
G |
18: 14,955,159 (GRCm39) |
I571V |
probably benign |
Het |
Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
Thap12 |
T |
C |
7: 98,365,947 (GRCm39) |
L705P |
probably damaging |
Het |
Tom1 |
T |
C |
8: 75,778,218 (GRCm39) |
V100A |
probably damaging |
Het |
Tox3 |
A |
G |
8: 90,975,057 (GRCm39) |
|
probably benign |
Het |
Vmn2r82 |
A |
G |
10: 79,232,344 (GRCm39) |
N781S |
probably damaging |
Het |
Vwa5b1 |
A |
T |
4: 138,327,547 (GRCm39) |
V343E |
possibly damaging |
Het |
Zbtb46 |
G |
A |
2: 181,065,632 (GRCm39) |
R173W |
probably damaging |
Het |
Zfp112 |
A |
G |
7: 23,821,720 (GRCm39) |
D20G |
probably benign |
Het |
Zfp777 |
A |
C |
6: 48,018,995 (GRCm39) |
M313R |
probably 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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAATGGCCTCATAGCAGGAG -3'
(R):5'- GTTCAGAGGCATATGTACTAGTTTCC -3'
Sequencing Primer
(F):5'- CCAAAGATTCCTGACCAG -3'
(R):5'- AGGGCCAGTGCATTAGATATTC -3'
|
Posted On |
2014-07-14 |