Incidental Mutation 'R9401:Zbbx'
ID |
711199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbbx
|
Ensembl Gene |
ENSMUSG00000034151 |
Gene Name |
zinc finger, B-box domain containing |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.052)
|
Stock # |
R9401 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
74945214-75072341 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75019390 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 107
(S107P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103407
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039269]
[ENSMUST00000107775]
[ENSMUST00000107776]
[ENSMUST00000107778]
[ENSMUST00000124618]
|
AlphaFold |
Q0P5X5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039269
AA Change: S107P
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000043970 Gene: ENSMUSG00000034151 AA Change: S107P
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
5e-22 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107775
AA Change: S107P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103404 Gene: ENSMUSG00000034151 AA Change: S107P
Domain | Start | End | E-Value | Type |
Pfam:zf-B_box
|
12 |
58 |
3.9e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107776
AA Change: S107P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000103405 Gene: ENSMUSG00000034151 AA Change: S107P
Domain | Start | End | E-Value | Type |
Blast:BBOX
|
13 |
58 |
1e-21 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107778
AA Change: S107P
PolyPhen 2
Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103407 Gene: ENSMUSG00000034151 AA Change: S107P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
A |
G |
8: 111,780,785 (GRCm39) |
D850G |
probably benign |
Het |
Abcc9 |
T |
A |
6: 142,543,836 (GRCm39) |
T1480S |
possibly damaging |
Het |
Adgrb3 |
C |
A |
1: 25,592,783 (GRCm39) |
V335F |
probably damaging |
Het |
Agfg1 |
C |
A |
1: 82,859,958 (GRCm39) |
A275D |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,655,001 (GRCm39) |
C2713* |
probably null |
Het |
Atp8a1 |
G |
A |
5: 67,906,492 (GRCm39) |
A474V |
|
Het |
Baz1a |
C |
A |
12: 54,963,339 (GRCm39) |
S918I |
probably damaging |
Het |
Bcl2l12 |
G |
T |
7: 44,643,674 (GRCm39) |
T120K |
possibly damaging |
Het |
Bcl6 |
G |
T |
16: 23,791,107 (GRCm39) |
Q416K |
possibly damaging |
Het |
Cdhr1 |
T |
A |
14: 36,820,055 (GRCm39) |
I16F |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cilp |
T |
C |
9: 65,185,381 (GRCm39) |
V492A |
probably damaging |
Het |
Crim1 |
CCGC |
CC |
17: 78,658,294 (GRCm39) |
|
probably null |
Het |
Crppa |
T |
C |
12: 36,552,073 (GRCm39) |
V309A |
probably benign |
Het |
Ctcfl |
T |
G |
2: 172,947,881 (GRCm39) |
T479P |
probably damaging |
Het |
Dlx6 |
A |
C |
6: 6,863,581 (GRCm39) |
M68L |
probably benign |
Het |
Dnah7a |
C |
A |
1: 53,568,026 (GRCm39) |
V1857F |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,265,806 (GRCm39) |
V714A |
probably benign |
Het |
Elovl7 |
T |
A |
13: 108,419,188 (GRCm39) |
N273K |
probably benign |
Het |
Fbxo22 |
A |
G |
9: 55,130,628 (GRCm39) |
K299R |
probably benign |
Het |
Fig4 |
A |
G |
10: 41,143,733 (GRCm39) |
V242A |
probably benign |
Het |
Fmo9 |
A |
T |
1: 166,505,189 (GRCm39) |
M68K |
probably damaging |
Het |
Fry |
T |
A |
5: 150,302,403 (GRCm39) |
Y537N |
probably damaging |
Het |
Fryl |
C |
T |
5: 73,222,563 (GRCm39) |
W2006* |
probably null |
Het |
Fzd8 |
T |
A |
18: 9,213,205 (GRCm39) |
C96S |
possibly damaging |
Het |
Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
Gspt1 |
T |
C |
16: 11,050,535 (GRCm39) |
D272G |
possibly damaging |
Het |
Gzmf |
A |
T |
14: 56,448,813 (GRCm39) |
M1K |
probably null |
Het |
Hipk1 |
T |
C |
3: 103,685,295 (GRCm39) |
T107A |
probably benign |
Het |
Hsd3b9 |
T |
G |
3: 98,363,819 (GRCm39) |
T9P |
probably damaging |
Het |
Ighe |
C |
T |
12: 113,233,107 (GRCm39) |
C438Y |
|
Het |
Igkv4-50 |
T |
A |
6: 69,677,967 (GRCm39) |
R46W |
|
Het |
Igsf3 |
T |
A |
3: 101,333,075 (GRCm39) |
Y118N |
probably damaging |
Het |
Itsn1 |
T |
A |
16: 91,612,408 (GRCm39) |
Y266N |
probably damaging |
Het |
Jph3 |
A |
G |
8: 122,511,854 (GRCm39) |
E614G |
probably damaging |
Het |
Klk1b8 |
T |
A |
7: 43,603,674 (GRCm39) |
D170E |
probably benign |
Het |
Ly6e |
A |
T |
15: 74,830,153 (GRCm39) |
K36* |
probably null |
Het |
Map3k6 |
C |
A |
4: 132,968,467 (GRCm39) |
A23E |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,883,089 (GRCm39) |
M1316K |
probably benign |
Het |
Or5c1 |
T |
C |
2: 37,222,293 (GRCm39) |
V178A |
possibly damaging |
Het |
Or6c76b |
A |
G |
10: 129,693,298 (GRCm39) |
R304G |
probably benign |
Het |
Or8u3-ps |
A |
T |
2: 85,952,368 (GRCm39) |
I34F |
possibly damaging |
Het |
Pih1d2 |
T |
A |
9: 50,529,905 (GRCm39) |
C45S |
probably damaging |
Het |
Pik3r2 |
G |
A |
8: 71,223,737 (GRCm39) |
S318L |
possibly damaging |
Het |
Pknox1 |
T |
C |
17: 31,802,752 (GRCm39) |
I9T |
probably benign |
Het |
Pknox2 |
T |
C |
9: 36,835,041 (GRCm39) |
I143V |
probably damaging |
Het |
Polr1d |
A |
G |
5: 147,015,488 (GRCm39) |
Y57C |
probably damaging |
Het |
Pum3 |
A |
T |
19: 27,376,336 (GRCm39) |
D527E |
probably benign |
Het |
Rars2 |
T |
A |
4: 34,654,819 (GRCm39) |
H374Q |
probably damaging |
Het |
Rassf9 |
G |
A |
10: 102,348,369 (GRCm39) |
|
probably benign |
Het |
Rbl1 |
T |
A |
2: 157,016,742 (GRCm39) |
H619L |
possibly damaging |
Het |
Scamp4 |
T |
C |
10: 80,448,238 (GRCm39) |
V153A |
probably benign |
Het |
Sec23b |
T |
G |
2: 144,420,286 (GRCm39) |
I450S |
probably benign |
Het |
Slc35b2 |
A |
G |
17: 45,877,910 (GRCm39) |
I297V |
probably benign |
Het |
Slc4a4 |
C |
T |
5: 89,327,525 (GRCm39) |
T654I |
probably damaging |
Het |
Slc6a5 |
T |
A |
7: 49,601,185 (GRCm39) |
M662K |
probably damaging |
Het |
Smarcad1 |
T |
C |
6: 65,071,321 (GRCm39) |
Y589H |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,890,012 (GRCm39) |
T603A |
probably benign |
Het |
Stab1 |
A |
T |
14: 30,883,069 (GRCm39) |
F374I |
probably benign |
Het |
Stat5a |
C |
T |
11: 100,756,254 (GRCm39) |
T158M |
possibly damaging |
Het |
Trpc3 |
A |
T |
3: 36,675,503 (GRCm39) |
Y878* |
probably null |
Het |
Ubr1 |
T |
A |
2: 120,765,765 (GRCm39) |
T491S |
probably benign |
Het |
Uggt1 |
C |
T |
1: 36,255,212 (GRCm39) |
|
probably null |
Het |
Ugt1a6a |
T |
A |
1: 88,066,882 (GRCm39) |
Y229* |
probably null |
Het |
Vmn1r225 |
G |
A |
17: 20,722,911 (GRCm39) |
W117* |
probably null |
Het |
Vmn1r225 |
A |
C |
17: 20,722,912 (GRCm39) |
K118Q |
probably damaging |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r116 |
T |
C |
17: 23,620,566 (GRCm39) |
S767P |
probably damaging |
Het |
Wdr90 |
AGAC |
AGACGAC |
17: 26,064,750 (GRCm39) |
|
probably benign |
Het |
Ythdf3 |
C |
T |
3: 16,258,659 (GRCm39) |
P280S |
probably damaging |
Het |
Zdhhc7 |
A |
T |
8: 120,813,425 (GRCm39) |
V128E |
probably benign |
Het |
Zfp235 |
A |
G |
7: 23,841,551 (GRCm39) |
S657G |
probably damaging |
Het |
Zfp442 |
T |
A |
2: 150,251,615 (GRCm39) |
I96F |
possibly damaging |
Het |
Zfp84 |
G |
A |
7: 29,476,297 (GRCm39) |
E330K |
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 |
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 |
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'- GGTCAAAATGCACAAAAGCCATATG -3'
(R):5'- ACTCCTGCATTAAGATTCTTGACAG -3'
Sequencing Primer
(F):5'- GGCTTCACCAAAAAGAACAATTTTC -3'
(R):5'- ATTAAGATTCTTGACAGTACTTTCCC -3'
|
Posted On |
2022-05-16 |