Incidental Mutation 'R5030:Zbbx'
ID |
391602 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
042621-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R5030 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 74990990 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 290
(D290N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039269
AA Change: D285N
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: D285N
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107775
AA Change: D290N
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: D290N
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107776
AA Change: D285N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: D285N
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107778
AA Change: D290N
PolyPhen 2
Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: D290N
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
98% (87/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930584F24Rik |
A |
C |
5: 26,684,783 (GRCm39) |
|
noncoding transcript |
Het |
Abca15 |
A |
T |
7: 119,939,224 (GRCm39) |
E206V |
probably damaging |
Het |
Acy1 |
A |
G |
9: 106,310,596 (GRCm39) |
F343L |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,229,645 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,607,948 (GRCm39) |
D4041E |
probably benign |
Het |
Akr1c14 |
T |
C |
13: 4,129,102 (GRCm39) |
S166P |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,604,946 (GRCm39) |
C2199S |
probably damaging |
Het |
Atm |
A |
T |
9: 53,431,409 (GRCm39) |
Y316* |
probably null |
Het |
Atp1a1 |
T |
C |
3: 101,487,133 (GRCm39) |
D892G |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,472,336 (GRCm39) |
V581A |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,997,548 (GRCm39) |
|
probably benign |
Het |
Boll |
T |
A |
1: 55,394,894 (GRCm39) |
N57I |
probably damaging |
Het |
C1s2 |
A |
C |
6: 124,612,547 (GRCm39) |
V36G |
possibly damaging |
Het |
Capza1 |
T |
C |
3: 104,748,154 (GRCm39) |
Y70C |
probably damaging |
Het |
Carnmt1 |
T |
C |
19: 18,668,950 (GRCm39) |
S292P |
possibly damaging |
Het |
Cemip2 |
T |
G |
19: 21,819,469 (GRCm39) |
F1087V |
probably benign |
Het |
Cyp2g1 |
T |
G |
7: 26,520,226 (GRCm39) |
V486G |
probably benign |
Het |
Dennd6b |
T |
A |
15: 89,080,454 (GRCm39) |
T49S |
possibly damaging |
Het |
Dhx58 |
A |
T |
11: 100,586,963 (GRCm39) |
I610N |
probably damaging |
Het |
Elapor2 |
T |
A |
5: 9,478,502 (GRCm39) |
N455K |
probably damaging |
Het |
Fam170a |
T |
A |
18: 50,415,021 (GRCm39) |
N222K |
probably benign |
Het |
Fbn1 |
A |
G |
2: 125,254,624 (GRCm39) |
V213A |
possibly damaging |
Het |
Frem3 |
A |
C |
8: 81,339,876 (GRCm39) |
D723A |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,818,836 (GRCm39) |
K4856N |
possibly damaging |
Het |
Galnt17 |
A |
G |
5: 130,905,351 (GRCm39) |
V571A |
probably damaging |
Het |
Gm6124 |
A |
G |
7: 38,872,454 (GRCm39) |
|
noncoding transcript |
Het |
Gm8973 |
A |
G |
15: 98,904,136 (GRCm39) |
|
noncoding transcript |
Het |
Gpd2 |
A |
G |
2: 57,194,417 (GRCm39) |
T107A |
probably damaging |
Het |
Hsd17b11 |
G |
A |
5: 104,151,158 (GRCm39) |
A192V |
probably damaging |
Het |
Igkv6-25 |
C |
T |
6: 70,192,426 (GRCm39) |
Q4* |
probably null |
Het |
Kalrn |
A |
G |
16: 33,796,112 (GRCm39) |
I1221T |
probably benign |
Het |
Klhl9 |
G |
T |
4: 88,638,771 (GRCm39) |
T490K |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,799,571 (GRCm39) |
V28A |
probably damaging |
Het |
Lrrc37 |
G |
A |
11: 103,425,675 (GRCm39) |
P1419S |
unknown |
Het |
Man2c1 |
A |
G |
9: 57,047,923 (GRCm39) |
H843R |
probably benign |
Het |
Map1b |
T |
C |
13: 99,570,682 (GRCm39) |
K680E |
unknown |
Het |
Metap2 |
A |
T |
10: 93,715,539 (GRCm39) |
|
probably null |
Het |
Mfsd2a |
A |
T |
4: 122,843,949 (GRCm39) |
I340N |
possibly damaging |
Het |
Mgll |
T |
C |
6: 88,795,647 (GRCm39) |
|
probably null |
Het |
Myh9 |
A |
G |
15: 77,691,998 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
A |
T |
9: 26,983,062 (GRCm39) |
I937F |
probably damaging |
Het |
Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
Nova1 |
A |
G |
12: 46,747,030 (GRCm39) |
S416P |
probably damaging |
Het |
Oosp3 |
T |
C |
19: 11,678,308 (GRCm39) |
W95R |
probably benign |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2t26 |
A |
T |
11: 49,039,188 (GRCm39) |
M35L |
probably benign |
Het |
Or5p76 |
T |
A |
7: 108,122,384 (GRCm39) |
I258F |
possibly damaging |
Het |
Or7e175 |
A |
T |
9: 20,049,363 (GRCm39) |
K317M |
probably benign |
Het |
Pcdha7 |
T |
A |
18: 37,108,501 (GRCm39) |
S509T |
probably damaging |
Het |
Pdgfrb |
T |
C |
18: 61,198,207 (GRCm39) |
V296A |
probably benign |
Het |
Pdzd2 |
A |
T |
15: 12,592,494 (GRCm39) |
L50* |
probably null |
Het |
Plcl2 |
G |
T |
17: 50,914,347 (GRCm39) |
R452L |
possibly damaging |
Het |
Poldip3 |
A |
T |
15: 83,022,392 (GRCm39) |
F131I |
possibly damaging |
Het |
Pwwp3a |
T |
C |
10: 80,076,209 (GRCm39) |
|
probably benign |
Het |
Rffl |
G |
A |
11: 82,703,543 (GRCm39) |
R127* |
probably null |
Het |
Sec24d |
T |
A |
3: 123,152,550 (GRCm39) |
V854E |
probably damaging |
Het |
Sgo2a |
T |
A |
1: 58,056,918 (GRCm39) |
L1034* |
probably null |
Het |
Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
Spaca1 |
A |
T |
4: 34,039,247 (GRCm39) |
N95K |
possibly damaging |
Het |
Spag17 |
C |
T |
3: 99,992,657 (GRCm39) |
Q1718* |
probably null |
Het |
Spdl1 |
C |
T |
11: 34,714,267 (GRCm39) |
A141T |
probably benign |
Het |
Stxbp3-ps |
A |
T |
19: 9,535,714 (GRCm39) |
|
noncoding transcript |
Het |
Supv3l1 |
G |
T |
10: 62,266,394 (GRCm39) |
A594D |
probably damaging |
Het |
Tcaf3 |
A |
G |
6: 42,573,867 (GRCm39) |
V115A |
probably benign |
Het |
Tmem131 |
T |
C |
1: 36,866,255 (GRCm39) |
N483S |
possibly damaging |
Het |
Tonsl |
A |
T |
15: 76,522,301 (GRCm39) |
C231S |
probably damaging |
Het |
Trav9n-4 |
T |
C |
14: 53,532,305 (GRCm39) |
F53S |
possibly damaging |
Het |
Trgv7 |
G |
T |
13: 19,362,558 (GRCm39) |
L82F |
probably damaging |
Het |
Trim45 |
T |
G |
3: 100,835,388 (GRCm39) |
V457G |
probably damaging |
Het |
Trpm1 |
T |
A |
7: 63,885,579 (GRCm39) |
I865N |
probably damaging |
Het |
Trpm3 |
C |
A |
19: 22,676,130 (GRCm39) |
L99I |
probably benign |
Het |
Twist1 |
T |
A |
12: 34,008,440 (GRCm39) |
L155Q |
probably damaging |
Het |
Vac14 |
A |
G |
8: 111,437,018 (GRCm39) |
E577G |
possibly damaging |
Het |
Vmn1r184 |
T |
C |
7: 25,966,881 (GRCm39) |
V209A |
probably benign |
Het |
Xdh |
C |
T |
17: 74,198,288 (GRCm39) |
G1200R |
probably damaging |
Het |
Zbtb40 |
T |
C |
4: 136,725,263 (GRCm39) |
T585A |
probably benign |
Het |
Zc3h4 |
T |
A |
7: 16,156,155 (GRCm39) |
D262E |
unknown |
Het |
Zfp777 |
G |
T |
6: 48,014,601 (GRCm39) |
D368E |
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 |
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 |
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'- ATCAGATCTACCCTATTTCGTCATG -3'
(R):5'- ACAGGTGAATTTCATTTCCCTGGG -3'
Sequencing Primer
(F):5'- GATCTACCCTATTTCGTCATGTGTGC -3'
(R):5'- TTTCATTTCCCTGGGAACATATAAG -3'
|
Posted On |
2016-06-06 |