Incidental Mutation 'R9202:Zbtb1'
| ID |
698284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb1
|
| Ensembl Gene |
ENSMUSG00000033454 |
| Gene Name |
zinc finger and BTB domain containing 1 |
| Synonyms |
C430003J21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.677)
|
| Stock # |
R9202 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
76417040-76443724 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 76433784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 590
(R590L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042779]
|
| AlphaFold |
Q91VL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042779
AA Change: R590L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041955
Gene: ENSMUSG00000033454
AA Change: R590L
| 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 |
0.1507 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
95% (41/43) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
A |
T |
3: 127,479,938 (GRCm39) |
I17K |
|
Het |
| Ampd3 |
T |
C |
7: 110,402,346 (GRCm39) |
I441T |
probably damaging |
Het |
| Ankrd31 |
C |
T |
13: 97,015,383 (GRCm39) |
Q1551* |
probably null |
Het |
| Asphd1 |
T |
A |
7: 126,547,934 (GRCm39) |
Y123F |
probably damaging |
Het |
| Atf2 |
A |
G |
2: 73,649,472 (GRCm39) |
S380P |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 36,944,970 (GRCm39) |
S310G |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cep72 |
G |
T |
13: 74,198,420 (GRCm39) |
T320K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Ctnna3 |
T |
G |
10: 64,708,947 (GRCm39) |
M662R |
probably damaging |
Het |
| Cyp2r1 |
T |
G |
7: 114,152,047 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
T |
A |
1: 190,744,351 (GRCm39) |
Y399F |
probably benign |
Het |
| Gimap8 |
T |
A |
6: 48,633,403 (GRCm39) |
F407L |
probably benign |
Het |
| Insrr |
C |
T |
3: 87,720,427 (GRCm39) |
R1022W |
probably damaging |
Het |
| Ipo4 |
A |
T |
14: 55,868,597 (GRCm39) |
|
probably null |
Het |
| Klhl35 |
A |
G |
7: 99,120,212 (GRCm39) |
N363S |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,593,452 (GRCm39) |
T240A |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,780,202 (GRCm39) |
V950A |
probably benign |
Het |
| Nceh1 |
A |
G |
3: 27,333,428 (GRCm39) |
I175V |
probably benign |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or5ac24 |
T |
C |
16: 59,165,618 (GRCm39) |
I149V |
probably benign |
Het |
| Or5m5 |
T |
A |
2: 85,814,801 (GRCm39) |
F206I |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,254,498 (GRCm39) |
D515G |
probably benign |
Het |
| Pafah2 |
T |
C |
4: 134,131,440 (GRCm39) |
S68P |
probably benign |
Het |
| Pcnx2 |
T |
A |
8: 126,616,416 (GRCm39) |
|
probably null |
Het |
| Pde11a |
G |
T |
2: 75,853,077 (GRCm39) |
S847* |
probably null |
Het |
| Pramel11 |
T |
A |
4: 143,623,646 (GRCm39) |
N176I |
probably benign |
Het |
| Pramel19 |
A |
G |
4: 101,797,860 (GRCm39) |
D86G |
probably damaging |
Het |
| Ptprq |
C |
T |
10: 107,522,416 (GRCm39) |
V546I |
probably damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,293,521 (GRCm39) |
S142A |
probably damaging |
Het |
| Ripk2 |
C |
A |
4: 16,124,502 (GRCm39) |
G402V |
probably benign |
Het |
| Speg |
T |
C |
1: 75,367,637 (GRCm39) |
S715P |
probably damaging |
Het |
| Ttll12 |
A |
G |
15: 83,466,264 (GRCm39) |
F399S |
probably damaging |
Het |
| Ugt1a2 |
G |
T |
1: 88,128,375 (GRCm39) |
C6F |
probably benign |
Het |
| Vars2 |
T |
C |
17: 35,977,551 (GRCm39) |
Y127C |
probably damaging |
Het |
| Vars2 |
T |
C |
17: 35,974,444 (GRCm39) |
|
probably null |
Het |
| Vmn2r95 |
T |
C |
17: 18,644,394 (GRCm39) |
F10S |
probably benign |
Het |
| Wdr12 |
T |
C |
1: 60,121,205 (GRCm39) |
D371G |
possibly damaging |
Het |
| Wdr89 |
C |
T |
12: 75,679,943 (GRCm39) |
E104K |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,677,920 (GRCm39) |
D2990G |
possibly damaging |
Het |
| Zfp710 |
G |
A |
7: 79,731,609 (GRCm39) |
G262D |
probably damaging |
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 |
|
|
R6948:Zbtb1
|
UTSW |
12 |
76,432,601 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8725:Zbtb1
|
UTSW |
12 |
76,432,646 (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'- TCCGATGTCCTAATTGTGGCC -3'
(R):5'- CAGACCTGGCATATAGTCTCCC -3'
Sequencing Primer
(F):5'- CTAATTGTGGCCAGCGTTTTGAAAC -3'
(R):5'- TGCGAGATCATATGCCGTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation