Incidental Mutation 'R6461:Zbtb11'
| ID |
517615 |
| 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 |
044390-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R6461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 55827234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 900
(R900H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050248]
[ENSMUST00000119981]
|
| AlphaFold |
G5E8B9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050248
AA Change: R900H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: R900H
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119981
|
| SMART Domains |
Protein: ENSMUSP00000112565
Gene: ENSMUSG00000071533
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCNP
|
1 |
100 |
6.3e-59 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184618
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
A |
10: 85,476,428 (GRCm39) |
I903N |
probably damaging |
Het |
| Atp12a |
C |
T |
14: 56,610,695 (GRCm39) |
R280C |
probably damaging |
Het |
| Dnmbp |
A |
G |
19: 43,855,964 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fbxo40 |
T |
C |
16: 36,790,390 (GRCm39) |
E240G |
probably benign |
Het |
| Gne |
T |
C |
4: 44,060,078 (GRCm39) |
D105G |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,146,522 (GRCm39) |
M494K |
possibly damaging |
Het |
| Hnrnpk |
A |
G |
13: 58,541,008 (GRCm39) |
|
probably null |
Het |
| Irf6 |
G |
C |
1: 192,849,779 (GRCm39) |
G234R |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,494,728 (GRCm39) |
F347L |
probably damaging |
Het |
| Mcfd2 |
G |
A |
17: 87,565,494 (GRCm39) |
T3I |
probably benign |
Het |
| Mon1b |
A |
G |
8: 114,365,170 (GRCm39) |
D166G |
probably damaging |
Het |
| Mup10 |
T |
A |
4: 60,538,078 (GRCm39) |
M4L |
unknown |
Het |
| Or13c7b |
T |
C |
4: 43,821,355 (GRCm39) |
E2G |
probably benign |
Het |
| Or2h1b |
C |
T |
17: 37,462,362 (GRCm39) |
C167Y |
probably damaging |
Het |
| Or51s1 |
T |
A |
7: 102,558,235 (GRCm39) |
R270S |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,828,587 (GRCm39) |
|
probably null |
Het |
| Pelp1 |
A |
T |
11: 70,287,132 (GRCm39) |
V522E |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,156,466 (GRCm39) |
D481G |
probably null |
Het |
| Scube1 |
G |
A |
15: 83,496,628 (GRCm39) |
T791I |
probably damaging |
Het |
| Sec24a |
T |
C |
11: 51,604,373 (GRCm39) |
I748V |
possibly damaging |
Het |
| Slc29a2 |
A |
G |
19: 5,077,768 (GRCm39) |
T236A |
probably benign |
Het |
| Smarca4 |
T |
A |
9: 21,590,316 (GRCm39) |
I1152N |
probably damaging |
Het |
| Syngap1 |
A |
G |
17: 27,183,822 (GRCm39) |
I1026V |
probably damaging |
Het |
| Tnxb |
G |
T |
17: 34,890,872 (GRCm39) |
R405L |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,606,344 (GRCm39) |
K1639R |
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 |
|
R4075: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 |
|
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'- CGGTAATCAAAGTGAACTGGTTG -3'
(R):5'- CTGCAGTTAAGATGCTGACAGC -3'
Sequencing Primer
(F):5'- TCAAAGTGAACTGGTTGTAGAAAAC -3'
(R):5'- GACAGCATGTTCCACTTGTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation