Incidental Mutation 'R7537:Zbbx'
| ID |
583632 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbbx
|
| Ensembl Gene |
ENSMUSG00000034151 |
| Gene Name |
zinc finger, B-box domain containing |
| Synonyms |
|
| MMRRC Submission |
045609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
R7537 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74992826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 223
(P223S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
|
| AlphaFold |
Q0P5X5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039269
AA Change: P218S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000043970
Gene: ENSMUSG00000034151
AA Change: P218S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107775
AA Change: P223S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103404
Gene: ENSMUSG00000034151
AA Change: P223S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107776
AA Change: P218S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103405
Gene: ENSMUSG00000034151
AA Change: P218S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107778
AA Change: P223S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103407
Gene: ENSMUSG00000034151
AA Change: P223S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
| Meta Mutation Damage Score |
0.3914 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,967,637 (GRCm39) |
L2229P |
possibly damaging |
Het |
| Acaca |
T |
A |
11: 84,151,460 (GRCm39) |
M786K |
probably damaging |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Adap1 |
T |
G |
5: 139,278,928 (GRCm39) |
E117D |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,463,053 (GRCm39) |
S746P |
probably benign |
Het |
| Appl2 |
A |
G |
10: 83,453,292 (GRCm39) |
I208T |
possibly damaging |
Het |
| Astn1 |
A |
G |
1: 158,332,956 (GRCm39) |
E346G |
possibly damaging |
Het |
| Astn1 |
G |
A |
1: 158,495,208 (GRCm39) |
|
probably null |
Het |
| Atp23 |
T |
A |
10: 126,704,594 (GRCm39) |
I180L |
unknown |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
T |
10: 60,220,724 (GRCm39) |
I1340N |
probably benign |
Het |
| Cdh8 |
G |
A |
8: 99,825,517 (GRCm39) |
Q493* |
probably null |
Het |
| Ces1g |
T |
C |
8: 94,046,455 (GRCm39) |
I357V |
probably benign |
Het |
| Ddx46 |
A |
G |
13: 55,798,291 (GRCm39) |
D226G |
probably damaging |
Het |
| Eea1 |
C |
T |
10: 95,830,767 (GRCm39) |
Q143* |
probably null |
Het |
| Erlin2 |
G |
T |
8: 27,521,800 (GRCm39) |
|
probably null |
Het |
| Fat3 |
T |
A |
9: 15,849,615 (GRCm39) |
D3929V |
probably damaging |
Het |
| Flt3 |
T |
C |
5: 147,271,247 (GRCm39) |
D898G |
probably damaging |
Het |
| Gm16519 |
A |
G |
17: 71,236,351 (GRCm39) |
N100S |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,299,428 (GRCm39) |
H533R |
probably damaging |
Het |
| Gphn |
A |
G |
12: 78,551,454 (GRCm39) |
T301A |
possibly damaging |
Het |
| Herc2 |
C |
T |
7: 55,869,527 (GRCm39) |
R4295* |
probably null |
Het |
| Insm2 |
T |
C |
12: 55,646,303 (GRCm39) |
S16P |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,276,037 (GRCm39) |
T778I |
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,734 (GRCm39) |
T128A |
probably damaging |
Het |
| Lst1 |
A |
G |
17: 35,405,920 (GRCm39) |
|
probably null |
Het |
| Magi1 |
G |
T |
6: 93,685,091 (GRCm39) |
Y762* |
probably null |
Het |
| Man2b1 |
T |
A |
8: 85,817,594 (GRCm39) |
C358* |
probably null |
Het |
| Mga |
T |
C |
2: 119,766,032 (GRCm39) |
V1432A |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Morc2a |
C |
T |
11: 3,633,566 (GRCm39) |
Q587* |
probably null |
Het |
| Mrc2 |
T |
C |
11: 105,183,623 (GRCm39) |
I4T |
probably benign |
Het |
| Muc16 |
C |
A |
9: 18,549,431 (GRCm39) |
V5621F |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myo3b |
A |
G |
2: 70,047,513 (GRCm39) |
R340G |
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,218,248 (GRCm39) |
Y34C |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,345 (GRCm39) |
D804E |
unknown |
Het |
| Nlrp4b |
A |
G |
7: 10,448,816 (GRCm39) |
M340V |
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,094 (GRCm39) |
T157S |
probably benign |
Het |
| Or2ag2b |
G |
A |
7: 106,417,581 (GRCm39) |
C97Y |
probably damaging |
Het |
| Or56a41 |
A |
T |
7: 104,741,978 (GRCm39) |
M16K |
probably benign |
Het |
| Or5al5 |
A |
G |
2: 85,961,608 (GRCm39) |
V133A |
probably benign |
Het |
| Pard3 |
T |
A |
8: 128,337,063 (GRCm39) |
N1271K |
probably damaging |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,672 (GRCm39) |
M1L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,732,118 (GRCm39) |
V3540A |
unknown |
Het |
| Pemt |
A |
G |
11: 59,867,670 (GRCm39) |
F154S |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rnpc3 |
G |
T |
3: 113,407,481 (GRCm39) |
T376K |
probably benign |
Het |
| Rpe65 |
A |
G |
3: 159,310,246 (GRCm39) |
Y143C |
probably damaging |
Het |
| Sbk2 |
T |
C |
7: 4,966,148 (GRCm39) |
E12G |
probably benign |
Het |
| Slc2a5 |
T |
C |
4: 150,213,526 (GRCm39) |
I106T |
possibly damaging |
Het |
| Snx13 |
A |
G |
12: 35,135,981 (GRCm39) |
D92G |
probably damaging |
Het |
| Sorl1 |
C |
T |
9: 41,891,984 (GRCm39) |
V1889I |
probably benign |
Het |
| Spag17 |
A |
T |
3: 99,846,563 (GRCm39) |
N29I |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,378,108 (GRCm39) |
V878A |
probably damaging |
Het |
| Timp4 |
A |
G |
6: 115,227,421 (GRCm39) |
S53P |
probably damaging |
Het |
| Tssk1 |
G |
T |
16: 17,712,948 (GRCm39) |
E244D |
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,964,219 (GRCm39) |
T21P |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,258,735 (GRCm39) |
V440E |
probably benign |
Het |
| Wdr59 |
T |
C |
8: 112,217,001 (GRCm39) |
D270G |
|
Het |
| Zfp936 |
T |
A |
7: 42,839,239 (GRCm39) |
C235* |
probably null |
Het |
| Zranb3 |
A |
T |
1: 127,960,584 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- CATGGACCAAAACTAAAAGCATGTG -3'
(R):5'- GTCTTCATCTTAAGCAAAACACAGC -3'
Sequencing Primer
(F):5'- AAAGCATGTGTTGACTAGTGC -3'
(R):5'- CAGCATGCAGTTGAAAAACTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation