Incidental Mutation 'R8110:Zbbx'
ID |
630792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
067539-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R8110 (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 75062749 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 3
(T3A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122459
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124618]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124618
AA Change: T3A
PolyPhen 2
Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000122459 Gene: ENSMUSG00000034151 AA Change: T3A
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 93.1%
|
Validation Efficiency |
99% (73/74) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd45 |
T |
C |
1: 160,978,889 (GRCm39) |
|
probably null |
Het |
Appl1 |
C |
A |
14: 26,649,751 (GRCm39) |
G592* |
probably null |
Het |
Arfgef2 |
T |
A |
2: 166,720,464 (GRCm39) |
M1501K |
probably benign |
Het |
Calcrl |
C |
T |
2: 84,169,683 (GRCm39) |
A333T |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,771,835 (GRCm39) |
I33N |
probably benign |
Het |
Ceacam15 |
A |
G |
7: 16,407,334 (GRCm39) |
L61P |
probably benign |
Het |
Cfap69 |
T |
A |
5: 5,632,515 (GRCm39) |
H827L |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
Cyp2u1 |
G |
A |
3: 131,087,303 (GRCm39) |
T426I |
probably damaging |
Het |
Eefsec |
A |
C |
6: 88,353,312 (GRCm39) |
I119S |
probably damaging |
Het |
Fem1b |
T |
C |
9: 62,703,550 (GRCm39) |
N570S |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,491,095 (GRCm39) |
M461T |
probably benign |
Het |
Fryl |
A |
G |
5: 73,290,620 (GRCm39) |
Y95H |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,789,017 (GRCm39) |
I346T |
probably benign |
Het |
Fto |
T |
C |
8: 92,211,818 (GRCm39) |
F381S |
probably damaging |
Het |
Gabbr1 |
G |
C |
17: 37,359,475 (GRCm39) |
S150T |
probably benign |
Het |
Galnt9 |
G |
T |
5: 110,763,339 (GRCm39) |
W448L |
probably damaging |
Het |
Gcnt2 |
G |
T |
13: 41,071,198 (GRCm39) |
|
probably benign |
Het |
Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,471,012 (GRCm39) |
Y2633C |
possibly damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,249,266 (GRCm39) |
I214V |
probably damaging |
Het |
Hspa12a |
T |
A |
19: 58,809,445 (GRCm39) |
E217V |
possibly damaging |
Het |
Itih2 |
A |
G |
2: 10,101,948 (GRCm39) |
F845L |
probably damaging |
Het |
Kcnn3 |
T |
A |
3: 89,568,540 (GRCm39) |
L606H |
probably damaging |
Het |
Krt6b |
G |
A |
15: 101,588,577 (GRCm39) |
R28C |
probably damaging |
Het |
Lama2 |
T |
A |
10: 26,866,866 (GRCm39) |
D2876V |
probably damaging |
Het |
Lmbrd2 |
T |
C |
15: 9,175,279 (GRCm39) |
S397P |
probably damaging |
Het |
Lmf2 |
C |
T |
15: 89,236,561 (GRCm39) |
|
probably null |
Het |
Lrp2 |
A |
G |
2: 69,336,797 (GRCm39) |
I1325T |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,850,676 (GRCm39) |
C879* |
probably null |
Het |
Map3k1 |
A |
G |
13: 111,891,847 (GRCm39) |
V1136A |
probably damaging |
Het |
Mettl3 |
G |
T |
14: 52,537,709 (GRCm39) |
H84N |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,155,873 (GRCm39) |
|
probably null |
Het |
Mlip |
G |
T |
9: 77,146,861 (GRCm39) |
T92K |
probably damaging |
Het |
Nalcn |
T |
A |
14: 123,702,113 (GRCm39) |
Y466F |
probably benign |
Het |
Nav2 |
T |
A |
7: 49,201,698 (GRCm39) |
L235* |
probably null |
Het |
Nbn |
T |
C |
4: 15,981,588 (GRCm39) |
V560A |
probably benign |
Het |
Ncln |
A |
T |
10: 81,328,987 (GRCm39) |
Y144N |
possibly damaging |
Het |
Nfe2l2 |
A |
C |
2: 75,509,765 (GRCm39) |
D18E |
probably benign |
Het |
Or10aa3 |
G |
A |
1: 173,878,091 (GRCm39) |
A51T |
probably benign |
Het |
Or12d2 |
A |
G |
17: 37,624,604 (GRCm39) |
F224L |
probably benign |
Het |
Or1ak2 |
T |
C |
2: 36,827,721 (GRCm39) |
C197R |
possibly damaging |
Het |
Or5w11 |
T |
C |
2: 87,458,951 (GRCm39) |
I48T |
possibly damaging |
Het |
Otop3 |
A |
T |
11: 115,230,221 (GRCm39) |
M33L |
probably benign |
Het |
Pate7 |
T |
C |
9: 35,689,329 (GRCm39) |
*84W |
probably null |
Het |
Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
Phf14 |
T |
C |
6: 11,953,422 (GRCm39) |
I387T |
possibly damaging |
Het |
Prb1c |
C |
T |
6: 132,338,531 (GRCm39) |
G229D |
unknown |
Het |
Prdm9 |
T |
A |
17: 15,774,960 (GRCm39) |
N318Y |
probably damaging |
Het |
Proca1 |
A |
G |
11: 78,095,737 (GRCm39) |
D123G |
probably damaging |
Het |
Prune2 |
G |
A |
19: 17,098,083 (GRCm39) |
G1196S |
probably benign |
Het |
Psd3 |
T |
A |
8: 68,573,708 (GRCm39) |
S158C |
probably damaging |
Het |
Rps18 |
A |
G |
17: 34,174,110 (GRCm39) |
V15A |
probably benign |
Het |
Sanbr |
G |
T |
11: 23,526,764 (GRCm39) |
T696N |
probably benign |
Het |
Sharpin |
C |
A |
15: 76,231,965 (GRCm39) |
R271L |
possibly damaging |
Het |
Smad5 |
C |
A |
13: 56,871,701 (GRCm39) |
Q99K |
probably damaging |
Het |
Sox5 |
T |
C |
6: 144,062,200 (GRCm39) |
M151V |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,256,492 (GRCm39) |
F419Y |
possibly damaging |
Het |
Tbx20 |
T |
A |
9: 24,636,821 (GRCm39) |
Y422F |
probably damaging |
Het |
Tcirg1 |
A |
C |
19: 3,949,099 (GRCm39) |
F397V |
probably damaging |
Het |
Tex36 |
G |
A |
7: 133,197,012 (GRCm39) |
S35F |
possibly damaging |
Het |
Tsen54 |
G |
T |
11: 115,705,760 (GRCm39) |
A26S |
unknown |
Het |
Usp50 |
T |
A |
2: 126,622,250 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
A |
T |
3: 64,398,709 (GRCm39) |
F757I |
probably benign |
Het |
Zfp28 |
T |
A |
7: 6,392,828 (GRCm39) |
M168K |
probably benign |
Het |
Zfp568 |
G |
T |
7: 29,722,551 (GRCm39) |
G499W |
probably damaging |
Het |
Zfp7 |
C |
G |
15: 76,775,131 (GRCm39) |
P391R |
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 |
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 |
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'- CTGACACTAATTGATCCTTTAGTCC -3'
(R):5'- GTGTCAGTCTTCAACACTGCAC -3'
Sequencing Primer
(F):5'- TGAAAGACCTTTAATTTGAAAACCAG -3'
(R):5'- CTGCTTTAACTTTGGGTTGA -3'
|
Posted On |
2020-06-30 |