Incidental Mutation 'R4075:Zbtb11'
ID |
316537 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb11
|
Ensembl Gene |
ENSMUSG00000022601 |
Gene Name |
zinc finger and BTB domain containing 11 |
Synonyms |
9230110G02Rik, ZNF-U69274 |
MMRRC Submission |
040974-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.971)
|
Stock # |
R4075 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 55818427 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 617
(T617I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
|
AlphaFold |
G5E8B9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050248
AA Change: T617I
PolyPhen 2
Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056923 Gene: ENSMUSG00000022601 AA Change: T617I
Domain | Start | End | E-Value | Type |
low complexity region
|
136 |
158 |
N/A |
INTRINSIC |
low complexity region
|
161 |
177 |
N/A |
INTRINSIC |
BTB
|
214 |
312 |
4.77e-13 |
SMART |
low complexity region
|
371 |
399 |
N/A |
INTRINSIC |
ZnF_C2H2
|
566 |
588 |
1.1e-2 |
SMART |
ZnF_C2H2
|
594 |
616 |
2.09e-3 |
SMART |
low complexity region
|
623 |
640 |
N/A |
INTRINSIC |
ZnF_C2H2
|
648 |
670 |
4.47e-3 |
SMART |
ZnF_C2H2
|
676 |
698 |
8.22e-2 |
SMART |
ZnF_C2H2
|
704 |
726 |
2.27e-4 |
SMART |
ZnF_C2H2
|
732 |
754 |
1.28e-3 |
SMART |
ZnF_C2H2
|
763 |
785 |
2.95e-3 |
SMART |
ZnF_C2H2
|
791 |
813 |
7.67e-2 |
SMART |
ZnF_C2H2
|
819 |
843 |
2.95e-3 |
SMART |
ZnF_C2H2
|
855 |
877 |
1.67e-2 |
SMART |
ZnF_C2H2
|
883 |
905 |
3.02e0 |
SMART |
ZnF_C2H2
|
911 |
934 |
9.58e-3 |
SMART |
low complexity region
|
979 |
994 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0866 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
T |
A |
7: 119,297,981 (GRCm39) |
L206H |
probably benign |
Het |
Adam34l |
A |
T |
8: 44,079,387 (GRCm39) |
F279Y |
probably damaging |
Het |
Adgrf5 |
T |
G |
17: 43,761,086 (GRCm39) |
V927G |
probably damaging |
Het |
Agtr1a |
A |
G |
13: 30,565,817 (GRCm39) |
N294S |
probably damaging |
Het |
Aspm |
T |
C |
1: 139,402,023 (GRCm39) |
L1229S |
probably damaging |
Het |
Chmp7 |
A |
T |
14: 69,969,730 (GRCm39) |
V70E |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,452,015 (GRCm39) |
F254L |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,318,810 (GRCm39) |
V2963A |
possibly damaging |
Het |
Depp1 |
A |
G |
6: 116,629,029 (GRCm39) |
N124S |
possibly damaging |
Het |
Dnah5 |
T |
A |
15: 28,293,937 (GRCm39) |
D1347E |
probably benign |
Het |
Dsg1a |
T |
G |
18: 20,473,127 (GRCm39) |
N733K |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,231,350 (GRCm39) |
E2656G |
probably benign |
Het |
Egf |
C |
T |
3: 129,529,618 (GRCm39) |
R264Q |
probably benign |
Het |
Eqtn |
A |
G |
4: 94,808,199 (GRCm39) |
I201T |
possibly damaging |
Het |
Ercc4 |
G |
A |
16: 12,948,549 (GRCm39) |
V499I |
probably damaging |
Het |
Fsip2 |
C |
T |
2: 82,813,245 (GRCm39) |
S3188L |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,325,774 (GRCm39) |
D1416G |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,485,514 (GRCm39) |
M234T |
possibly damaging |
Het |
Ifi44 |
A |
T |
3: 151,451,613 (GRCm39) |
N164K |
probably benign |
Het |
Ikzf3 |
G |
T |
11: 98,358,469 (GRCm39) |
Y289* |
probably null |
Het |
Il17rc |
A |
G |
6: 113,458,158 (GRCm39) |
D327G |
possibly damaging |
Het |
Lamp3 |
A |
G |
16: 19,519,466 (GRCm39) |
L239P |
possibly damaging |
Het |
Lce1l |
C |
T |
3: 92,757,540 (GRCm39) |
S106N |
unknown |
Het |
Lrig3 |
C |
T |
10: 125,849,277 (GRCm39) |
T999I |
probably benign |
Het |
Map4k4 |
T |
C |
1: 40,062,622 (GRCm39) |
Y1196H |
probably damaging |
Het |
Mtr |
C |
A |
13: 12,230,298 (GRCm39) |
|
probably null |
Het |
Nlrp4c |
A |
G |
7: 6,075,709 (GRCm39) |
K667E |
probably benign |
Het |
Nxt1 |
A |
G |
2: 148,517,652 (GRCm39) |
D131G |
probably damaging |
Het |
Obox3 |
G |
T |
7: 15,359,724 (GRCm39) |
T315N |
possibly damaging |
Het |
Or52e18 |
A |
T |
7: 104,609,923 (GRCm39) |
N5K |
probably damaging |
Het |
Or5bw2 |
T |
C |
7: 6,573,142 (GRCm39) |
S51P |
probably benign |
Het |
Pcdh7 |
A |
G |
5: 57,879,150 (GRCm39) |
R902G |
probably damaging |
Het |
Pidd1 |
A |
G |
7: 141,020,739 (GRCm39) |
F453L |
probably damaging |
Het |
Ptpn1 |
T |
A |
2: 167,818,433 (GRCm39) |
|
probably null |
Het |
Rev1 |
T |
G |
1: 38,093,319 (GRCm39) |
K1075T |
possibly damaging |
Het |
Slc28a2b |
T |
G |
2: 122,344,892 (GRCm39) |
V166G |
probably benign |
Het |
Slco1a5 |
A |
T |
6: 142,213,950 (GRCm39) |
I57K |
possibly damaging |
Het |
Ssrp1 |
A |
C |
2: 84,875,912 (GRCm39) |
K590N |
possibly damaging |
Het |
Svs5 |
T |
C |
2: 164,079,238 (GRCm39) |
E223G |
probably benign |
Het |
Tab3 |
G |
T |
X: 84,658,063 (GRCm39) |
V197F |
probably damaging |
Het |
Tm2d3 |
T |
A |
7: 65,347,498 (GRCm39) |
L49* |
probably null |
Het |
Usp31 |
A |
G |
7: 121,267,005 (GRCm39) |
|
probably null |
Het |
Vmn2r24 |
A |
T |
6: 123,764,374 (GRCm39) |
H417L |
possibly damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zfp677 |
T |
C |
17: 21,618,421 (GRCm39) |
Y493H |
probably damaging |
Het |
|
Other mutations in Zbtb11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00839:Zbtb11
|
APN |
16 |
55,820,965 (GRCm39) |
nonsense |
probably null |
|
IGL01107:Zbtb11
|
APN |
16 |
55,826,370 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01341:Zbtb11
|
APN |
16 |
55,811,294 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01510:Zbtb11
|
APN |
16 |
55,810,706 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01611:Zbtb11
|
APN |
16 |
55,800,973 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01736:Zbtb11
|
APN |
16 |
55,818,523 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01834:Zbtb11
|
APN |
16 |
55,811,371 (GRCm39) |
missense |
probably benign |
0.35 |
IGL02427:Zbtb11
|
APN |
16 |
55,802,713 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02441:Zbtb11
|
APN |
16 |
55,794,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02455:Zbtb11
|
APN |
16 |
55,821,038 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4544001:Zbtb11
|
UTSW |
16 |
55,818,556 (GRCm39) |
nonsense |
probably null |
|
R0987:Zbtb11
|
UTSW |
16 |
55,811,071 (GRCm39) |
missense |
probably benign |
0.00 |
R1414:Zbtb11
|
UTSW |
16 |
55,810,923 (GRCm39) |
nonsense |
probably null |
|
R1437:Zbtb11
|
UTSW |
16 |
55,811,983 (GRCm39) |
critical splice donor site |
probably null |
|
R1570:Zbtb11
|
UTSW |
16 |
55,811,178 (GRCm39) |
missense |
probably benign |
|
R1658:Zbtb11
|
UTSW |
16 |
55,794,588 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1735:Zbtb11
|
UTSW |
16 |
55,811,045 (GRCm39) |
missense |
probably benign |
|
R2048:Zbtb11
|
UTSW |
16 |
55,818,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R2925:Zbtb11
|
UTSW |
16 |
55,794,447 (GRCm39) |
missense |
probably benign |
0.00 |
R4072:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4076:Zbtb11
|
UTSW |
16 |
55,818,427 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5023:Zbtb11
|
UTSW |
16 |
55,826,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R5755:Zbtb11
|
UTSW |
16 |
55,821,076 (GRCm39) |
missense |
probably benign |
0.02 |
R5757:Zbtb11
|
UTSW |
16 |
55,827,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R6218:Zbtb11
|
UTSW |
16 |
55,818,436 (GRCm39) |
missense |
probably benign |
0.00 |
R6313:Zbtb11
|
UTSW |
16 |
55,810,854 (GRCm39) |
missense |
probably benign |
0.03 |
R6461:Zbtb11
|
UTSW |
16 |
55,827,234 (GRCm39) |
missense |
probably damaging |
0.99 |
R6666:Zbtb11
|
UTSW |
16 |
55,826,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R6807:Zbtb11
|
UTSW |
16 |
55,810,865 (GRCm39) |
missense |
probably benign |
0.03 |
R7194:Zbtb11
|
UTSW |
16 |
55,827,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R7424:Zbtb11
|
UTSW |
16 |
55,810,850 (GRCm39) |
missense |
probably benign |
0.01 |
R8022:Zbtb11
|
UTSW |
16 |
55,826,383 (GRCm39) |
missense |
probably damaging |
0.99 |
R8436:Zbtb11
|
UTSW |
16 |
55,821,022 (GRCm39) |
nonsense |
probably null |
|
R8532:Zbtb11
|
UTSW |
16 |
55,811,252 (GRCm39) |
missense |
probably benign |
0.03 |
R8806:Zbtb11
|
UTSW |
16 |
55,802,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R9033:Zbtb11
|
UTSW |
16 |
55,818,492 (GRCm39) |
missense |
probably benign |
|
R9673:Zbtb11
|
UTSW |
16 |
55,827,336 (GRCm39) |
missense |
probably damaging |
1.00 |
RF014:Zbtb11
|
UTSW |
16 |
55,800,960 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Zbtb11
|
UTSW |
16 |
55,811,865 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTTCATATACCCTTGGCTGTG -3'
(R):5'- TTACACCCGTGTGCTTTAGC -3'
Sequencing Primer
(F):5'- CATATACCCTTGGCTGTGTTTTGCG -3'
(R):5'- GTTCTTCCCTTCTCAGATGA -3'
|
Posted On |
2015-05-15 |