Incidental Mutation 'PIT4480001:Zbbx'
ID |
554847 |
Institutional Source |
Beutler Lab
|
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 # |
PIT4480001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75043794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 35
(D35V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
[ENSMUST00000124618]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039269
AA Change: D35V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: D35V
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107775
AA Change: D35V
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: D35V
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107776
AA Change: D35V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: D35V
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107778
AA Change: D35V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: D35V
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000124618
AA Change: D151V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122459 Gene: ENSMUSG00000034151 AA Change: D151V
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: 93.3%
- 3x: 90.7%
- 10x: 83.8%
- 20x: 69.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn3 |
G |
A |
19: 4,917,605 (GRCm39) |
Q413* |
probably null |
Het |
Ahnak2 |
C |
T |
12: 112,740,358 (GRCm39) |
S1238N |
possibly damaging |
Het |
Arsk |
T |
C |
13: 76,210,484 (GRCm39) |
E521G |
probably damaging |
Het |
Baiap2 |
A |
G |
11: 119,887,913 (GRCm39) |
T356A |
probably benign |
Het |
Baz1b |
G |
A |
5: 135,246,819 (GRCm39) |
R756H |
probably damaging |
Het |
Celsr1 |
G |
A |
15: 85,916,615 (GRCm39) |
P453S |
probably damaging |
Het |
Cep41 |
G |
A |
6: 30,658,412 (GRCm39) |
P196S |
probably damaging |
Het |
Cln5 |
T |
A |
14: 103,309,214 (GRCm39) |
Y89* |
probably null |
Het |
Cntnap3 |
A |
G |
13: 64,905,024 (GRCm39) |
F919S |
probably damaging |
Het |
Cntrl |
C |
T |
2: 35,045,440 (GRCm39) |
H1383Y |
probably damaging |
Het |
Cobl |
A |
G |
11: 12,203,592 (GRCm39) |
S1037P |
probably benign |
Het |
Col17a1 |
A |
T |
19: 47,659,813 (GRCm39) |
S380T |
probably benign |
Het |
Cyrib |
G |
A |
15: 63,828,490 (GRCm39) |
T11I |
probably benign |
Het |
Dagla |
A |
T |
19: 10,238,022 (GRCm39) |
S323T |
probably benign |
Het |
Dicer1 |
G |
T |
12: 104,662,803 (GRCm39) |
Q1593K |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,078,863 (GRCm39) |
I2367V |
probably benign |
Het |
Emc1 |
T |
C |
4: 139,086,588 (GRCm39) |
S184P |
possibly damaging |
Het |
Eps8l1 |
G |
A |
7: 4,474,414 (GRCm39) |
S295N |
probably benign |
Het |
Erbb4 |
A |
T |
1: 68,114,702 (GRCm39) |
M914K |
probably damaging |
Het |
Eva1a |
A |
G |
6: 82,068,784 (GRCm39) |
E37G |
probably damaging |
Het |
Fyco1 |
G |
T |
9: 123,657,715 (GRCm39) |
Y820* |
probably null |
Het |
Gipr |
T |
C |
7: 18,896,859 (GRCm39) |
Y137C |
probably damaging |
Het |
Gm5414 |
A |
G |
15: 101,536,181 (GRCm39) |
V148A |
probably damaging |
Het |
Gpn1 |
T |
C |
5: 31,654,685 (GRCm39) |
V79A |
probably damaging |
Het |
Grk2 |
G |
A |
19: 4,337,437 (GRCm39) |
R617C |
possibly damaging |
Het |
Inpp4b |
A |
C |
8: 82,772,896 (GRCm39) |
E730A |
probably damaging |
Het |
Inpp5f |
C |
T |
7: 128,286,858 (GRCm39) |
T579I |
probably benign |
Het |
Kif15 |
A |
T |
9: 122,840,608 (GRCm39) |
M1201L |
probably benign |
Het |
Ltbp3 |
A |
G |
19: 5,801,254 (GRCm39) |
N631S |
possibly damaging |
Het |
Mdh1 |
G |
A |
11: 21,508,538 (GRCm39) |
S268L |
probably damaging |
Het |
Mgat4e |
T |
A |
1: 134,469,103 (GRCm39) |
T314S |
possibly damaging |
Het |
Nsd1 |
A |
G |
13: 55,361,731 (GRCm39) |
Q233R |
probably benign |
Het |
Or11g1 |
T |
C |
14: 50,651,372 (GRCm39) |
F124L |
probably benign |
Het |
Or5w17 |
T |
C |
2: 87,584,127 (GRCm39) |
D70G |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,863,438 (GRCm39) |
I295L |
probably benign |
Het |
Peg10 |
C |
T |
6: 4,756,560 (GRCm39) |
H379Y |
unknown |
Het |
Phtf2 |
A |
T |
5: 21,018,242 (GRCm39) |
I33N |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,553,977 (GRCm39) |
M115V |
probably benign |
Het |
Ppp2r3d |
A |
G |
9: 101,003,576 (GRCm39) |
Y431H |
possibly damaging |
Het |
Prph2 |
GT |
G |
17: 47,222,039 (GRCm39) |
|
probably null |
Het |
Psmd1 |
C |
T |
1: 86,055,960 (GRCm39) |
P774L |
probably damaging |
Het |
Ranbp17 |
A |
T |
11: 33,247,340 (GRCm39) |
|
probably null |
Het |
Rptn |
A |
G |
3: 93,304,977 (GRCm39) |
D770G |
possibly damaging |
Het |
Serac1 |
A |
G |
17: 6,101,087 (GRCm39) |
L439P |
probably damaging |
Het |
Slitrk6 |
TTTTAGTCTGTTCTACCAACACCTT |
TTT |
14: 110,987,257 (GRCm39) |
|
probably null |
Het |
Sox6 |
T |
C |
7: 115,196,744 (GRCm39) |
I295M |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,119,586 (GRCm39) |
M4475V |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,929,637 (GRCm39) |
D301E |
probably benign |
Het |
Tas2r117 |
G |
A |
6: 132,780,014 (GRCm39) |
V51I |
possibly damaging |
Het |
Tbx2 |
C |
T |
11: 85,725,561 (GRCm39) |
R171C |
probably damaging |
Het |
Tgfbr1 |
A |
G |
4: 47,402,955 (GRCm39) |
I320V |
probably benign |
Het |
Tjp3 |
C |
A |
10: 81,115,091 (GRCm39) |
G396W |
probably damaging |
Het |
Tmprss2 |
T |
C |
16: 97,400,460 (GRCm39) |
N4D |
possibly damaging |
Het |
Tnfaip3 |
T |
C |
10: 18,883,071 (GRCm39) |
N165D |
probably benign |
Het |
Tnfrsf21 |
A |
T |
17: 43,348,802 (GRCm39) |
Y138F |
probably benign |
Het |
Utp4 |
T |
C |
8: 107,632,817 (GRCm39) |
S267P |
probably benign |
Het |
Wnk1 |
A |
T |
6: 119,940,328 (GRCm39) |
L803* |
probably null |
Het |
Zscan12 |
T |
G |
13: 21,552,744 (GRCm39) |
N189K |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCCTAGAGAGATGGGCTTATC -3'
(R):5'- ACTTGATCTGAGAGTAGTTGTTCC -3'
Sequencing Primer
(F):5'- TGGGCTTATCTACATAACAGTGCAGG -3'
(R):5'- CTGAGAGTAGTTGTTCCATGTTAAC -3'
|
Posted On |
2019-06-07 |