Incidental Mutation 'R0179:Zbbx'
| ID |
23021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbbx
|
| Ensembl Gene |
ENSMUSG00000034151 |
| Gene Name |
zinc finger, B-box domain containing |
| Synonyms |
|
| MMRRC Submission |
038447-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R0179 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 74992869 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
| 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
|
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
98% (81/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
C |
T |
16: 85,592,353 (GRCm39) |
S948N |
probably benign |
Het |
| Adck1 |
A |
T |
12: 88,425,942 (GRCm39) |
M457L |
possibly damaging |
Het |
| Adprm |
A |
T |
11: 66,929,051 (GRCm39) |
H313Q |
possibly damaging |
Het |
| Adss1 |
T |
C |
12: 112,598,703 (GRCm39) |
I104T |
probably benign |
Het |
| Agxt2 |
A |
C |
15: 10,399,134 (GRCm39) |
Q435P |
possibly damaging |
Het |
| Amotl1 |
G |
A |
9: 14,460,069 (GRCm39) |
A890V |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,509,463 (GRCm39) |
V968A |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,615,896 (GRCm39) |
D163G |
possibly damaging |
Het |
| Cd226 |
C |
A |
18: 89,225,263 (GRCm39) |
N53K |
probably benign |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,636 (GRCm39) |
D23G |
probably benign |
Het |
| Cdc7 |
T |
C |
5: 107,112,905 (GRCm39) |
S8P |
probably benign |
Het |
| Cdh8 |
C |
T |
8: 99,838,344 (GRCm39) |
E499K |
possibly damaging |
Het |
| Chd7 |
T |
A |
4: 8,862,516 (GRCm39) |
F2534L |
probably benign |
Het |
| Ckb |
T |
C |
12: 111,636,610 (GRCm39) |
T255A |
probably benign |
Het |
| Cntnap5c |
G |
T |
17: 58,076,620 (GRCm39) |
W19L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,057,871 (GRCm39) |
E1854G |
probably benign |
Het |
| Colec12 |
C |
T |
18: 9,858,921 (GRCm39) |
P568L |
unknown |
Het |
| Cop1 |
A |
G |
1: 159,077,636 (GRCm39) |
D157G |
probably benign |
Het |
| Csf2rb |
A |
C |
15: 78,220,572 (GRCm39) |
Q38P |
possibly damaging |
Het |
| Ctla2b |
T |
C |
13: 61,044,107 (GRCm39) |
D52G |
possibly damaging |
Het |
| Dcaf7 |
A |
T |
11: 105,942,623 (GRCm39) |
D190V |
probably damaging |
Het |
| Depdc5 |
T |
A |
5: 33,058,918 (GRCm39) |
|
probably benign |
Het |
| Dgkq |
A |
G |
5: 108,806,066 (GRCm39) |
|
probably benign |
Het |
| Dhrs2 |
A |
G |
14: 55,477,933 (GRCm39) |
T222A |
probably damaging |
Het |
| Dock1 |
G |
A |
7: 134,700,566 (GRCm39) |
D1109N |
probably damaging |
Het |
| E4f1 |
G |
C |
17: 24,670,411 (GRCm39) |
T92S |
possibly damaging |
Het |
| Ep400 |
A |
T |
5: 110,816,515 (GRCm39) |
S2669T |
probably damaging |
Het |
| Eprs1 |
T |
G |
1: 185,145,744 (GRCm39) |
D1184E |
probably benign |
Het |
| Fpr-rs4 |
A |
T |
17: 18,242,289 (GRCm39) |
K99* |
probably null |
Het |
| Fzr1 |
A |
T |
10: 81,204,904 (GRCm39) |
|
probably benign |
Het |
| Gcc2 |
C |
T |
10: 58,112,472 (GRCm39) |
R1001C |
probably benign |
Het |
| Gm4884 |
A |
G |
7: 40,693,252 (GRCm39) |
D407G |
probably benign |
Het |
| Golga4 |
A |
T |
9: 118,389,808 (GRCm39) |
|
probably null |
Het |
| Gp2 |
T |
G |
7: 119,051,540 (GRCm39) |
D225A |
possibly damaging |
Het |
| Gramd1a |
T |
A |
7: 30,841,843 (GRCm39) |
T120S |
probably damaging |
Het |
| Hbb-bh2 |
T |
A |
7: 103,488,434 (GRCm39) |
N121I |
probably benign |
Het |
| Htr6 |
A |
T |
4: 138,789,437 (GRCm39) |
L276Q |
probably damaging |
Het |
| Itga9 |
A |
T |
9: 118,490,454 (GRCm39) |
I262F |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,805,096 (GRCm39) |
|
probably benign |
Het |
| Large1 |
T |
C |
8: 73,825,474 (GRCm39) |
N200S |
probably benign |
Het |
| Lct |
C |
T |
1: 128,255,422 (GRCm39) |
V207I |
probably benign |
Het |
| Marf1 |
C |
A |
16: 13,969,040 (GRCm39) |
L144F |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,355,956 (GRCm39) |
Y605* |
probably null |
Het |
| Mtus1 |
G |
T |
8: 41,455,398 (GRCm39) |
L87I |
possibly damaging |
Het |
| Muc2 |
A |
G |
7: 141,302,708 (GRCm39) |
Y17C |
probably damaging |
Het |
| Myf5 |
T |
C |
10: 107,321,779 (GRCm39) |
D5G |
possibly damaging |
Het |
| Nasp |
C |
T |
4: 116,459,354 (GRCm39) |
V375M |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,689 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,155,468 (GRCm39) |
Q447R |
probably benign |
Het |
| Ntn5 |
G |
A |
7: 45,335,737 (GRCm39) |
G56D |
probably damaging |
Het |
| Oasl2 |
A |
G |
5: 115,048,973 (GRCm39) |
R138G |
probably benign |
Het |
| Or4c29 |
A |
T |
2: 88,740,237 (GRCm39) |
C167S |
possibly damaging |
Het |
| Or5b124 |
T |
A |
19: 13,610,504 (GRCm39) |
F10I |
probably damaging |
Het |
| Or9k7 |
T |
C |
10: 130,046,207 (GRCm39) |
Y264C |
probably damaging |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,612 (GRCm39) |
G664D |
probably damaging |
Het |
| Ppp1r15a |
T |
C |
7: 45,174,424 (GRCm39) |
E128G |
probably damaging |
Het |
| Prpf19 |
T |
C |
19: 10,875,172 (GRCm39) |
|
probably benign |
Het |
| Ptpn3 |
T |
A |
4: 57,270,118 (GRCm39) |
T15S |
probably benign |
Het |
| R3hdm2 |
G |
A |
10: 127,330,975 (GRCm39) |
C818Y |
probably damaging |
Het |
| Rad51d |
A |
G |
11: 82,780,824 (GRCm39) |
V39A |
possibly damaging |
Het |
| Rptor |
A |
T |
11: 119,763,193 (GRCm39) |
T926S |
probably benign |
Het |
| Rwdd4a |
G |
A |
8: 47,995,742 (GRCm39) |
D41N |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,972,214 (GRCm39) |
S516P |
probably benign |
Het |
| Ssbp3 |
T |
C |
4: 106,903,585 (GRCm39) |
S334P |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,703,874 (GRCm39) |
|
probably benign |
Het |
| Synj1 |
T |
C |
16: 90,761,519 (GRCm39) |
K649R |
possibly damaging |
Het |
| Tdp2 |
C |
T |
13: 25,024,431 (GRCm39) |
H243Y |
possibly damaging |
Het |
| Tinag |
A |
G |
9: 76,904,164 (GRCm39) |
|
probably benign |
Het |
| Trerf1 |
T |
C |
17: 47,627,588 (GRCm39) |
|
noncoding transcript |
Het |
| Trip10 |
T |
C |
17: 57,569,349 (GRCm39) |
|
probably benign |
Het |
| Tsen54 |
A |
T |
11: 115,712,856 (GRCm39) |
S131C |
probably damaging |
Het |
| Unc5c |
A |
T |
3: 141,523,828 (GRCm39) |
R794* |
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 41,696,432 (GRCm39) |
Y103* |
probably null |
Het |
| Washc5 |
A |
G |
15: 59,224,379 (GRCm39) |
V460A |
probably benign |
Het |
| Wdr87-ps |
A |
G |
7: 29,235,365 (GRCm39) |
|
noncoding transcript |
Het |
| Whamm |
A |
G |
7: 81,243,763 (GRCm39) |
T358A |
probably benign |
Het |
| Xlr4b |
C |
T |
X: 72,262,277 (GRCm39) |
|
probably benign |
Het |
| Zdhhc23 |
G |
A |
16: 43,794,066 (GRCm39) |
P203S |
probably benign |
Het |
| Zfp27 |
T |
A |
7: 29,595,850 (GRCm39) |
E38D |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTAATGACAAGAACAGGAGGCCATCA -3'
(R):5'- GACACGATCTTTGGATTCCATGTGACTT -3'
Sequencing Primer
(F):5'- ACATGTCTGATAATTTGCTGTCTTG -3'
(R):5'- GGTCTTCATCTTAAGCAAAACACAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation