Incidental Mutation 'R2165:Zbbx'
| ID |
235406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbbx
|
| Ensembl Gene |
ENSMUSG00000034151 |
| Gene Name |
zinc finger, B-box domain containing |
| Synonyms |
|
| MMRRC Submission |
040168-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R2165 (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 75019414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 99
(P99S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
[ENSMUST00000124618]
|
| AlphaFold |
Q0P5X5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039269
AA Change: P99S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: P99S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107775
AA Change: P99S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
AA Change: P99S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107776
AA Change: P99S
PolyPhen 2
Score 0.136 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: P99S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107778
AA Change: P99S
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: P99S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124618
|
| SMART Domains |
Protein: ENSMUSP00000122459
Gene: ENSMUSG00000034151
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
23 |
60 |
N/A |
INTRINSIC |
|
Pfam:zf-B_box
|
128 |
174 |
1.3e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.0788 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,906,048 (GRCm39) |
T806A |
possibly damaging |
Het |
| Adgre1 |
T |
G |
17: 57,726,338 (GRCm39) |
L403R |
probably damaging |
Het |
| Alox12 |
A |
T |
11: 70,133,398 (GRCm39) |
|
probably null |
Het |
| Ankib1 |
A |
T |
5: 3,763,210 (GRCm39) |
D506E |
possibly damaging |
Het |
| Ascc3 |
T |
G |
10: 50,597,935 (GRCm39) |
Y1268D |
probably damaging |
Het |
| Bik |
A |
G |
15: 83,425,624 (GRCm39) |
M42V |
probably benign |
Het |
| Bola1 |
A |
T |
3: 96,104,517 (GRCm39) |
S26T |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,643,201 (GRCm39) |
I1048V |
probably benign |
Het |
| Cad |
A |
G |
5: 31,219,564 (GRCm39) |
N621S |
probably damaging |
Het |
| Camkv |
C |
A |
9: 107,822,799 (GRCm39) |
N69K |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,876 (GRCm39) |
M589T |
probably benign |
Het |
| Ccdc154 |
T |
A |
17: 25,389,864 (GRCm39) |
V498E |
probably damaging |
Het |
| Ccr1l1 |
A |
G |
9: 123,777,691 (GRCm39) |
L252P |
probably damaging |
Het |
| Cdh1 |
T |
C |
8: 107,390,953 (GRCm39) |
C690R |
probably damaging |
Het |
| Cfap157 |
T |
G |
2: 32,668,175 (GRCm39) |
|
probably null |
Het |
| Cux2 |
A |
G |
5: 122,025,540 (GRCm39) |
S43P |
possibly damaging |
Het |
| Cyb5rl |
C |
T |
4: 106,925,880 (GRCm39) |
P21S |
probably damaging |
Het |
| Cyp51 |
T |
G |
5: 4,136,594 (GRCm39) |
Q400P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,137,152 (GRCm39) |
|
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,642,688 (GRCm39) |
V1104I |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,352,688 (GRCm39) |
I90M |
probably benign |
Het |
| Fam13c |
A |
G |
10: 70,378,523 (GRCm39) |
N269S |
probably damaging |
Het |
| Fam83c |
T |
A |
2: 155,673,444 (GRCm39) |
Y248F |
possibly damaging |
Het |
| Fat2 |
A |
G |
11: 55,194,542 (GRCm39) |
F1166L |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,564,686 (GRCm39) |
N260D |
probably benign |
Het |
| Fnbp4 |
T |
A |
2: 90,597,743 (GRCm39) |
|
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,733 (GRCm39) |
*360Y |
probably null |
Het |
| Fut9 |
T |
A |
4: 25,619,734 (GRCm39) |
*360L |
probably null |
Het |
| Gm3727 |
T |
A |
14: 7,264,625 (GRCm38) |
Q10L |
probably damaging |
Het |
| Gpat2 |
G |
A |
2: 127,270,211 (GRCm39) |
V75M |
probably damaging |
Het |
| Haspin |
A |
C |
11: 73,027,456 (GRCm39) |
N544K |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,669,379 (GRCm39) |
N286S |
probably benign |
Het |
| Lrp6 |
A |
C |
6: 134,436,246 (GRCm39) |
C1307G |
probably damaging |
Het |
| Lrrc2 |
A |
C |
9: 110,808,645 (GRCm39) |
H294P |
possibly damaging |
Het |
| Mettl25b |
A |
T |
3: 87,834,360 (GRCm39) |
|
probably null |
Het |
| Mon2 |
A |
C |
10: 122,878,269 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprb1 |
T |
C |
7: 48,097,070 (GRCm39) |
I281V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,569,294 (GRCm39) |
E118G |
probably damaging |
Het |
| Nefh |
T |
C |
11: 4,893,872 (GRCm39) |
D394G |
probably damaging |
Het |
| Neurl4 |
A |
G |
11: 69,794,047 (GRCm39) |
T168A |
probably benign |
Het |
| Or10s1 |
A |
G |
9: 39,986,211 (GRCm39) |
N207D |
possibly damaging |
Het |
| Or1j18 |
T |
A |
2: 36,624,713 (GRCm39) |
C127S |
probably damaging |
Het |
| Or51a10 |
T |
C |
7: 103,698,845 (GRCm39) |
T239A |
probably benign |
Het |
| Or5ak4 |
A |
T |
2: 85,161,446 (GRCm39) |
N265K |
probably benign |
Het |
| Oxsr1 |
A |
C |
9: 119,123,498 (GRCm39) |
M92R |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,945,516 (GRCm39) |
|
probably null |
Het |
| Pex5l |
T |
A |
3: 33,007,281 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
T |
A |
9: 105,549,984 (GRCm39) |
M1025K |
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,605,903 (GRCm39) |
E1325K |
probably benign |
Het |
| Plin2 |
A |
T |
4: 86,586,669 (GRCm39) |
V54E |
probably damaging |
Het |
| Prss47 |
A |
T |
13: 65,192,887 (GRCm39) |
I298N |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,097,546 (GRCm39) |
R1017G |
probably benign |
Het |
| Psg19 |
T |
A |
7: 18,530,911 (GRCm39) |
Y81F |
possibly damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Serpinb1a |
T |
C |
13: 33,034,397 (GRCm39) |
|
probably benign |
Het |
| Sh3pxd2a |
A |
T |
19: 47,266,794 (GRCm39) |
V265E |
probably damaging |
Het |
| Slc22a17 |
A |
T |
14: 55,146,282 (GRCm39) |
Y337* |
probably null |
Het |
| Slc25a27 |
A |
G |
17: 43,968,663 (GRCm39) |
V138A |
probably benign |
Het |
| Slc4a2 |
A |
G |
5: 24,636,314 (GRCm39) |
Y220C |
probably damaging |
Het |
| Slc66a3 |
G |
A |
12: 17,039,840 (GRCm39) |
L192F |
probably damaging |
Het |
| Stab1 |
A |
T |
14: 30,890,392 (GRCm39) |
S20T |
probably benign |
Het |
| Tcstv2a |
A |
T |
13: 120,725,633 (GRCm39) |
Q99L |
probably damaging |
Het |
| Thsd1 |
G |
T |
8: 22,728,538 (GRCm39) |
|
probably benign |
Het |
| Tmem204 |
G |
A |
17: 25,299,566 (GRCm39) |
|
probably benign |
Het |
| Tom1l1 |
A |
G |
11: 90,540,721 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
A |
4: 52,612,072 (GRCm39) |
F655Y |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,301,553 (GRCm39) |
K852E |
unknown |
Het |
| Wdpcp |
T |
G |
11: 21,641,884 (GRCm39) |
L174R |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp600 |
A |
T |
4: 146,133,488 (GRCm39) |
R719* |
probably null |
Het |
| Zfp697 |
C |
A |
3: 98,335,330 (GRCm39) |
A365E |
unknown |
Het |
| Zfp957 |
A |
C |
14: 79,451,053 (GRCm39) |
S249A |
probably benign |
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 |
|
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'- GTCAAAATGCACAAAAGCCATATGG -3'
(R):5'- AAATCACTGAGACTCCTGCATTAAG -3'
Sequencing Primer
(F):5'- GGCTTCACCAAAAAGAACAATTTTC -3'
(R):5'- GACTCCTGCATTAAGATTCTTGACAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation