Incidental Mutation 'R5757:Zbtb11'
| ID |
445119 |
| 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 |
043360-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R5757 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55794246-55829276 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55827392 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 953
(N953D)
|
| 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: N953D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056923
Gene: ENSMUSG00000022601
AA Change: N953D
| 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: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
T |
11: 109,933,794 (GRCm39) |
A1204T |
probably benign |
Het |
| Adcy5 |
G |
T |
16: 35,092,451 (GRCm39) |
R604L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,419,877 (GRCm39) |
N33K |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,937,909 (GRCm39) |
Y406C |
probably damaging |
Het |
| Asgr1 |
A |
C |
11: 69,945,778 (GRCm39) |
H18P |
probably benign |
Het |
| Asph |
A |
C |
4: 9,637,722 (GRCm39) |
|
probably null |
Het |
| Brd4 |
G |
A |
17: 32,420,272 (GRCm39) |
|
probably benign |
Het |
| Ccdc150 |
T |
A |
1: 54,302,779 (GRCm39) |
I133N |
probably damaging |
Het |
| Cdon |
A |
C |
9: 35,364,068 (GRCm39) |
H62P |
probably damaging |
Het |
| Clec4b1 |
T |
A |
6: 123,046,713 (GRCm39) |
Y157* |
probably null |
Het |
| Clip1 |
G |
A |
5: 123,765,460 (GRCm39) |
T810I |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,770,875 (GRCm39) |
L184Q |
probably damaging |
Het |
| Fat2 |
C |
T |
11: 55,143,172 (GRCm39) |
G4226R |
probably damaging |
Het |
| Fbxo30 |
T |
A |
10: 11,166,165 (GRCm39) |
C296S |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,794,025 (GRCm39) |
K883E |
probably benign |
Het |
| Glyr1 |
A |
T |
16: 4,836,856 (GRCm39) |
M436K |
probably benign |
Het |
| Gm525 |
A |
T |
11: 88,965,872 (GRCm39) |
Q38L |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,187,040 (GRCm39) |
V941D |
probably damaging |
Het |
| Hectd4 |
G |
C |
5: 121,486,682 (GRCm39) |
E3226Q |
possibly damaging |
Het |
| Ints13 |
G |
A |
6: 146,451,604 (GRCm39) |
R714C |
probably benign |
Het |
| Kif12 |
A |
T |
4: 63,088,755 (GRCm39) |
W182R |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,835,548 (GRCm39) |
L1272P |
probably damaging |
Het |
| Klhl14 |
A |
C |
18: 21,687,791 (GRCm39) |
Y544D |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,945,372 (GRCm39) |
|
probably null |
Het |
| Lama1 |
G |
A |
17: 68,045,782 (GRCm39) |
R229Q |
possibly damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,580,944 (GRCm39) |
|
probably null |
Het |
| Map4k5 |
A |
T |
12: 69,871,429 (GRCm39) |
C498S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,655,362 (GRCm39) |
V1198E |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,253,528 (GRCm39) |
D950G |
probably damaging |
Het |
| Obsl1 |
G |
T |
1: 75,469,699 (GRCm39) |
A1106D |
probably damaging |
Het |
| Or5m9 |
T |
A |
2: 85,876,910 (GRCm39) |
V28E |
possibly damaging |
Het |
| Or8k27 |
T |
C |
2: 86,275,922 (GRCm39) |
I135V |
probably benign |
Het |
| Otog |
T |
A |
7: 45,890,545 (GRCm39) |
|
probably null |
Het |
| Oxtr |
A |
T |
6: 112,454,222 (GRCm39) |
I14N |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,485,141 (GRCm39) |
S490R |
probably damaging |
Het |
| Polk |
A |
C |
13: 96,620,760 (GRCm39) |
M560R |
probably benign |
Het |
| Polq |
C |
T |
16: 36,907,043 (GRCm39) |
H2335Y |
probably benign |
Het |
| Prr14 |
T |
A |
7: 127,074,725 (GRCm39) |
V419D |
possibly damaging |
Het |
| Rflnb |
A |
G |
11: 75,912,992 (GRCm39) |
V132A |
probably damaging |
Het |
| Rxfp1 |
T |
G |
3: 79,568,627 (GRCm39) |
I283L |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Scnn1g |
T |
A |
7: 121,337,438 (GRCm39) |
C100S |
probably damaging |
Het |
| Sfrp2 |
G |
C |
3: 83,673,933 (GRCm39) |
G29R |
possibly damaging |
Het |
| Spop |
A |
G |
11: 95,381,208 (GRCm39) |
H312R |
probably damaging |
Het |
| Tpx2 |
A |
G |
2: 152,727,151 (GRCm39) |
|
probably null |
Het |
| Wdr4 |
A |
T |
17: 31,718,063 (GRCm39) |
V337E |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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'- GCGTTAAGCCTTTCGAGTGC -3'
(R):5'- CTTTGGTCAGAGAGGGTAGACAC -3'
Sequencing Primer
(F):5'- AGCCTTTCGAGTGCTTAACATG -3'
(R):5'- CCGACGGACACTCCTCAGTAG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation