Incidental Mutation 'R6948:Zbtb1'
| ID |
540979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb1
|
| Ensembl Gene |
ENSMUSG00000033454 |
| Gene Name |
zinc finger and BTB domain containing 1 |
| Synonyms |
C430003J21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.698)
|
| Stock # |
R6948 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76417040-76443724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 76432601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Cysteine
at position 196
(S196C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042779]
|
| AlphaFold |
Q91VL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042779
AA Change: S196C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: S196C
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
121 |
1.01e-16 |
SMART |
|
ZnF_C2H2
|
216 |
242 |
2.17e1 |
SMART |
|
low complexity region
|
359 |
368 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
421 |
443 |
3.38e1 |
SMART |
|
ZnF_C2H2
|
534 |
554 |
1.4e1 |
SMART |
|
ZnF_C2H2
|
578 |
600 |
2.02e-1 |
SMART |
|
ZnF_C2H2
|
606 |
628 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
634 |
656 |
1.62e0 |
SMART |
|
ZnF_C2H2
|
662 |
684 |
1.08e-1 |
SMART |
|
ZnF_C2H2
|
686 |
709 |
1.36e-2 |
SMART |
|
| Meta Mutation Damage Score |
0.1849 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (36/37) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU induced mutation exhibit abnormal thymus, B cell, and T cell differentiation, and reduced numbers of T, B, and NK cells in the spleen. [provided by MGI curators]
|
| Allele List at MGI |
www.informatics.jax.org/javawi2/servlet/WIFetch |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgap2 |
A |
G |
2: 91,097,524 (GRCm39) |
T107A |
probably benign |
Het |
| Calhm3 |
T |
A |
19: 47,140,344 (GRCm39) |
M250L |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,447,327 (GRCm39) |
I276L |
probably benign |
Het |
| Cd70 |
T |
C |
17: 57,456,594 (GRCm39) |
E3G |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,683 (GRCm39) |
S455R |
probably damaging |
Het |
| Cgn |
C |
G |
3: 94,680,531 (GRCm39) |
E590D |
probably benign |
Het |
| Cpvl |
T |
A |
6: 53,873,468 (GRCm39) |
I423F |
possibly damaging |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,636 (GRCm39) |
M345L |
possibly damaging |
Het |
| Dner |
T |
C |
1: 84,383,738 (GRCm39) |
N549D |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,063,595 (GRCm39) |
L4517Q |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,692,597 (GRCm39) |
T523A |
probably damaging |
Het |
| Flg |
A |
G |
3: 93,195,475 (GRCm39) |
|
probably benign |
Het |
| Gcfc2 |
A |
G |
6: 81,910,734 (GRCm39) |
E237G |
probably benign |
Het |
| Ipo5 |
G |
T |
14: 121,160,527 (GRCm39) |
M181I |
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,955,470 (GRCm39) |
T1026I |
probably benign |
Het |
| Klhl32 |
A |
G |
4: 24,629,250 (GRCm39) |
Y506H |
probably benign |
Het |
| Mast3 |
G |
A |
8: 71,238,126 (GRCm39) |
T505I |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,464 (GRCm39) |
V118D |
possibly damaging |
Het |
| Mtor |
T |
G |
4: 148,621,209 (GRCm39) |
V1869G |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,522,703 (GRCm39) |
M720K |
possibly damaging |
Het |
| Npy4r |
A |
G |
14: 33,868,731 (GRCm39) |
Y186H |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,997,142 (GRCm39) |
S1520P |
probably damaging |
Het |
| Or10g1b |
A |
T |
14: 52,627,614 (GRCm39) |
F205L |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,655,994 (GRCm39) |
N274D |
probably benign |
Het |
| Plxnb1 |
T |
C |
9: 108,945,702 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,129,085 (GRCm39) |
D178G |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,177,033 (GRCm39) |
S1878P |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,374,737 (GRCm39) |
V1033A |
probably benign |
Het |
| Scaf1 |
G |
T |
7: 44,662,971 (GRCm39) |
S14* |
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,384,706 (GRCm39) |
S228G |
possibly damaging |
Het |
| Slc22a14 |
C |
A |
9: 119,060,482 (GRCm39) |
A93S |
probably damaging |
Het |
| Sox30 |
G |
A |
11: 45,908,166 (GRCm39) |
V778M |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,457,097 (GRCm39) |
I128V |
probably benign |
Het |
| Trip10 |
T |
A |
17: 57,569,448 (GRCm39) |
C491S |
probably damaging |
Het |
| Vmn1r26 |
A |
T |
6: 57,985,718 (GRCm39) |
M157K |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,662,187 (GRCm39) |
D582G |
possibly damaging |
Het |
| Zfp384 |
A |
G |
6: 125,001,873 (GRCm39) |
T125A |
probably benign |
Het |
| Zpr1 |
T |
G |
9: 46,184,939 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Zbtb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01891:Zbtb1
|
APN |
12 |
76,432,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Zbtb1
|
APN |
12 |
76,433,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Zbtb1
|
APN |
12 |
76,433,450 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02496:Zbtb1
|
APN |
12 |
76,432,169 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03270:Zbtb1
|
APN |
12 |
76,432,289 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Limited
|
UTSW |
12 |
76,432,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Occasional
|
UTSW |
12 |
76,433,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Old_friend
|
UTSW |
12 |
76,432,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
scant
|
UTSW |
12 |
76,432,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Zbtb1
|
UTSW |
12 |
76,432,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1317:Zbtb1
|
UTSW |
12 |
76,433,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1525:Zbtb1
|
UTSW |
12 |
76,433,206 (GRCm39) |
missense |
probably benign |
|
|
R1761:Zbtb1
|
UTSW |
12 |
76,432,595 (GRCm39) |
nonsense |
probably null |
|
|
R2920:Zbtb1
|
UTSW |
12 |
76,432,619 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5307:Zbtb1
|
UTSW |
12 |
76,433,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Zbtb1
|
UTSW |
12 |
76,433,698 (GRCm39) |
missense |
probably benign |
|
|
R5975:Zbtb1
|
UTSW |
12 |
76,433,049 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6484:Zbtb1
|
UTSW |
12 |
76,432,665 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6493:Zbtb1
|
UTSW |
12 |
76,433,247 (GRCm39) |
missense |
probably benign |
|
|
R6513:Zbtb1
|
UTSW |
12 |
76,432,604 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6904:Zbtb1
|
UTSW |
12 |
76,432,985 (GRCm39) |
nonsense |
probably null |
|
|
R8725:Zbtb1
|
UTSW |
12 |
76,432,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9202:Zbtb1
|
UTSW |
12 |
76,433,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9303:Zbtb1
|
UTSW |
12 |
76,432,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9305:Zbtb1
|
UTSW |
12 |
76,432,773 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Zbtb1
|
UTSW |
12 |
76,432,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1191:Zbtb1
|
UTSW |
12 |
76,432,023 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGACGCAGACTGTTCTAG -3'
(R):5'- ACTATTCGGTGGTAAGCTCTTGTC -3'
Sequencing Primer
(F):5'- GACGCAGACTGTTCTAGTTCAAAGTG -3'
(R):5'- AAGCTCTTGTCGTGTTTTGGTATGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation