Incidental Mutation 'R4821:Zbbx'
ID |
370208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
042437-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R4821 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 74989054 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 345
(H345Y)
|
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: H345Y
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: H345Y
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107775
AA Change: H350Y
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: H350Y
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107776
AA Change: H345Y
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: H345Y
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107778
AA Change: H350Y
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: H350Y
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
T |
C |
4: 103,092,871 (GRCm39) |
K150R |
probably damaging |
Het |
Aak1 |
T |
C |
6: 86,827,171 (GRCm39) |
V46A |
probably damaging |
Het |
Abcb9 |
T |
C |
5: 124,228,212 (GRCm39) |
T10A |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,813 (GRCm39) |
D116G |
possibly damaging |
Het |
Adam33 |
G |
A |
2: 130,903,115 (GRCm39) |
P43L |
probably benign |
Het |
Adamtsl2 |
T |
A |
2: 26,988,604 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
G |
7: 75,327,255 (GRCm39) |
|
probably benign |
Het |
Art1 |
T |
A |
7: 101,756,385 (GRCm39) |
L192Q |
probably damaging |
Het |
Baalc |
A |
G |
15: 38,796,575 (GRCm39) |
|
probably benign |
Het |
Baz2a |
A |
G |
10: 127,946,978 (GRCm39) |
E164G |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,144 (GRCm39) |
I391V |
probably benign |
Het |
Cacna1c |
T |
C |
6: 118,673,386 (GRCm39) |
T497A |
probably damaging |
Het |
Cap2 |
C |
A |
13: 46,763,586 (GRCm39) |
T164N |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,751,225 (GRCm39) |
|
probably null |
Het |
Ccdc88c |
T |
C |
12: 100,904,338 (GRCm39) |
N1120S |
probably benign |
Het |
Cfap210 |
T |
C |
2: 69,612,452 (GRCm39) |
E96G |
possibly damaging |
Het |
Chd7 |
T |
A |
4: 8,844,706 (GRCm39) |
V1605D |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,622,622 (GRCm39) |
|
probably benign |
Het |
Commd3 |
T |
C |
2: 18,677,339 (GRCm39) |
S22P |
probably benign |
Het |
Cpd |
T |
C |
11: 76,737,063 (GRCm39) |
I244V |
probably benign |
Het |
Cpeb2 |
C |
A |
5: 43,390,817 (GRCm39) |
|
probably benign |
Het |
Cyp2c65 |
A |
G |
19: 39,060,635 (GRCm39) |
D165G |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,289,148 (GRCm39) |
Y152C |
probably damaging |
Het |
Dennd4a |
G |
A |
9: 64,804,531 (GRCm39) |
C1290Y |
possibly damaging |
Het |
Ebf4 |
G |
A |
2: 130,148,965 (GRCm39) |
M232I |
probably benign |
Het |
Farp2 |
A |
G |
1: 93,502,192 (GRCm39) |
|
probably null |
Het |
Frk |
T |
C |
10: 34,360,233 (GRCm39) |
V78A |
probably benign |
Het |
Gm5799 |
A |
G |
14: 43,782,098 (GRCm39) |
D90G |
probably damaging |
Het |
Gpr45 |
C |
G |
1: 43,069,613 (GRCm39) |
|
probably benign |
Het |
Hfm1 |
C |
T |
5: 107,002,606 (GRCm39) |
|
probably null |
Het |
Igkv4-57-1 |
T |
A |
6: 69,521,387 (GRCm39) |
D105V |
probably damaging |
Het |
Impdh2-ps |
A |
G |
8: 100,757,995 (GRCm39) |
|
noncoding transcript |
Het |
Kctd4 |
G |
A |
14: 76,200,217 (GRCm39) |
V63I |
probably benign |
Het |
Lcn6 |
T |
A |
2: 25,570,822 (GRCm39) |
L137M |
probably damaging |
Het |
Lonrf1 |
T |
C |
8: 36,687,126 (GRCm39) |
N737D |
probably benign |
Het |
Mcu |
C |
T |
10: 59,303,511 (GRCm39) |
V109M |
probably damaging |
Het |
Mecom |
C |
A |
3: 30,039,500 (GRCm39) |
K186N |
probably damaging |
Het |
Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,384,727 (GRCm39) |
D533G |
probably damaging |
Het |
Nae1 |
A |
C |
8: 105,246,416 (GRCm39) |
C294G |
probably damaging |
Het |
Ncapg2 |
T |
G |
12: 116,379,077 (GRCm39) |
H190Q |
probably damaging |
Het |
Nkx2-2 |
A |
T |
2: 147,027,763 (GRCm39) |
L59Q |
possibly damaging |
Het |
Nrxn3 |
C |
T |
12: 90,171,483 (GRCm39) |
T295I |
probably damaging |
Het |
Obscn |
C |
T |
11: 58,897,652 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 58,931,293 (GRCm39) |
M5781K |
probably damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,206 (GRCm39) |
T77A |
possibly damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,570 (GRCm39) |
|
noncoding transcript |
Het |
Or4z4 |
T |
A |
19: 12,076,110 (GRCm39) |
M298L |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,467,381 (GRCm39) |
P101T |
probably damaging |
Het |
Pot1b |
A |
G |
17: 55,979,885 (GRCm39) |
S324P |
possibly damaging |
Het |
Potefam1 |
T |
C |
2: 111,034,490 (GRCm39) |
|
probably null |
Het |
Ppcdc |
C |
T |
9: 57,342,194 (GRCm39) |
V43I |
probably benign |
Het |
Prr13 |
A |
T |
15: 102,369,120 (GRCm39) |
|
probably benign |
Het |
Rab10os |
T |
A |
12: 3,287,322 (GRCm39) |
|
noncoding transcript |
Het |
Rabgap1 |
T |
C |
2: 37,422,531 (GRCm39) |
S595P |
probably damaging |
Het |
Rap1gap |
T |
C |
4: 137,439,440 (GRCm39) |
S126P |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 83,114,185 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
T |
A |
5: 31,194,228 (GRCm39) |
K610* |
probably null |
Het |
Sun5 |
C |
T |
2: 153,711,386 (GRCm39) |
V27I |
probably benign |
Het |
Tmco5b |
T |
C |
2: 113,120,102 (GRCm39) |
I126T |
probably benign |
Het |
Tmed7 |
G |
A |
18: 46,726,480 (GRCm39) |
Q92* |
probably null |
Het |
Trav7d-2 |
A |
G |
14: 52,921,885 (GRCm39) |
D98G |
probably benign |
Het |
Trbv16 |
T |
A |
6: 41,128,936 (GRCm39) |
L40Q |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,485,848 (GRCm39) |
V2986A |
probably benign |
Het |
Usp33 |
T |
C |
3: 152,064,310 (GRCm39) |
V58A |
probably benign |
Het |
Vmn2r94 |
T |
A |
17: 18,477,293 (GRCm39) |
M373L |
probably benign |
Het |
Ywhaq |
T |
C |
12: 21,467,512 (GRCm39) |
|
probably benign |
Het |
Zfp346 |
G |
T |
13: 55,261,626 (GRCm39) |
|
probably benign |
Het |
Zfp616 |
C |
T |
11: 73,975,033 (GRCm39) |
A434V |
probably benign |
Het |
Zfp992 |
C |
T |
4: 146,551,976 (GRCm39) |
H566Y |
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 |
|
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 |
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'- TGCATCCACTAGAATATGGTCAACAG -3'
(R):5'- GGACCATTGCTTTCAACACATTC -3'
Sequencing Primer
(F):5'- GAATATGGTCAACAGAAATGTCACTG -3'
(R):5'- ATTCTTTGTGCTTATCCCTAAACATG -3'
|
Posted On |
2016-02-04 |