Incidental Mutation 'I0000:Zbtb48'
| ID |
7853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb48
|
| Ensembl Gene |
ENSMUSG00000028952 |
| Gene Name |
zinc finger and BTB domain containing 48 |
| Synonyms |
0610011D15Rik, Hkr3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
I0000 (G3)
of strain
635
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152104231-152112128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152104315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 671
(I671T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066715]
[ENSMUST00000097773]
[ENSMUST00000155389]
[ENSMUST00000156748]
|
| AlphaFold |
Q1H9T6 |
| PDB Structure |
Solution structure of the tandem four zf-C2H2 domain repeats of murine GLI-Kruppel family member HKR3 [SOLUTION NMR]
Crystal structure of BTB domain from mouse HKR3 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066715
AA Change: I671T
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: I671T
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
312 |
332 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
371 |
394 |
9.58e-3 |
SMART |
|
ZnF_C2H2
|
400 |
423 |
2.49e-1 |
SMART |
|
ZnF_C2H2
|
429 |
452 |
2.57e-3 |
SMART |
|
ZnF_C2H2
|
458 |
480 |
9.73e-4 |
SMART |
|
ZnF_C2H2
|
486 |
508 |
3.21e-4 |
SMART |
|
ZnF_C2H2
|
514 |
537 |
1.67e-2 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
1.95e-3 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
5.67e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097773
|
| SMART Domains |
Protein: ENSMUSP00000095380
Gene: ENSMUSG00000073700
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
35 |
133 |
2.4e-27 |
SMART |
|
BACK
|
138 |
239 |
3.93e-27 |
SMART |
|
Kelch
|
287 |
334 |
1.08e0 |
SMART |
|
Kelch
|
336 |
382 |
1.3e-7 |
SMART |
|
Kelch
|
383 |
422 |
5.88e-1 |
SMART |
|
Kelch
|
464 |
512 |
2.97e-1 |
SMART |
|
Kelch
|
513 |
560 |
6.57e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123696
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136212
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155389
|
| SMART Domains |
Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
ZnF_C2H2
|
284 |
306 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
312 |
332 |
2.06e1 |
SMART |
|
ZnF_C2H2
|
343 |
365 |
5.99e-4 |
SMART |
|
ZnF_C2H2
|
371 |
394 |
9.58e-3 |
SMART |
|
low complexity region
|
403 |
418 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155441
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156748
|
| SMART Domains |
Protein: ENSMUSP00000117079
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
80 |
102 |
1.64e-1 |
SMART |
|
ZnF_C2H2
|
108 |
128 |
2.06e1 |
SMART |
|
| Meta Mutation Damage Score |
0.1907 |
| Coding Region Coverage |
|
| Validation Efficiency |
67% (62/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,376,716 (GRCm39) |
V1933A |
probably damaging |
Het |
| Acsm4 |
T |
A |
7: 119,310,415 (GRCm39) |
F467I |
probably damaging |
Het |
| Ankrd55 |
A |
T |
13: 112,485,259 (GRCm39) |
|
probably benign |
Het |
| Bfsp1 |
T |
C |
2: 143,687,888 (GRCm39) |
Y179C |
probably damaging |
Het |
| Ccdc61 |
A |
G |
7: 18,637,474 (GRCm39) |
I51T |
probably damaging |
Het |
| Ccdc81 |
A |
G |
7: 89,547,259 (GRCm39) |
L43P |
probably damaging |
Het |
| Ddias |
A |
G |
7: 92,515,848 (GRCm39) |
V15A |
possibly damaging |
Het |
| Dpp6 |
A |
T |
5: 27,603,920 (GRCm39) |
T62S |
probably benign |
Het |
| Ereg |
G |
A |
5: 91,237,068 (GRCm39) |
C129Y |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,888,688 (GRCm39) |
G2745S |
probably damaging |
Het |
| Gzf1 |
C |
T |
2: 148,528,540 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,786,477 (GRCm39) |
|
probably benign |
Het |
| Hsd17b4 |
A |
G |
18: 50,293,295 (GRCm39) |
D278G |
probably benign |
Homo |
| Ifitm3 |
A |
G |
7: 140,590,441 (GRCm39) |
S40P |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,540,911 (GRCm39) |
T307M |
probably damaging |
Homo |
| Lnpep |
A |
T |
17: 17,799,233 (GRCm39) |
C141S |
probably damaging |
Homo |
| Mmp19 |
A |
T |
10: 128,634,329 (GRCm39) |
D362V |
probably benign |
Het |
| Or4a72 |
T |
C |
2: 89,405,497 (GRCm39) |
Y191C |
probably damaging |
Het |
| Pnpla6 |
G |
A |
8: 3,592,322 (GRCm39) |
A1222T |
probably benign |
Het |
| Rbm26 |
C |
A |
14: 105,391,003 (GRCm39) |
R161L |
unknown |
Homo |
| Selenon |
G |
A |
4: 134,270,012 (GRCm39) |
|
probably benign |
Het |
| Septin11 |
A |
G |
5: 93,313,118 (GRCm39) |
T322A |
probably benign |
Het |
| Sh3bp4 |
T |
A |
1: 89,065,518 (GRCm39) |
D37E |
probably benign |
Het |
| Tango2 |
G |
A |
16: 18,130,530 (GRCm39) |
R80W |
possibly damaging |
Homo |
| Tjap1 |
C |
T |
17: 46,569,955 (GRCm39) |
C345Y |
probably damaging |
Homo |
| Wdr62 |
T |
C |
7: 29,944,752 (GRCm39) |
D455G |
probably benign |
Het |
| Zfp318 |
T |
C |
17: 46,710,485 (GRCm39) |
L736P |
probably damaging |
Homo |
|
| Other mutations in Zbtb48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Zbtb48
|
APN |
4 |
152,105,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02709:Zbtb48
|
APN |
4 |
152,105,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Etna
|
UTSW |
4 |
152,106,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1515:Zbtb48
|
UTSW |
4 |
152,104,658 (GRCm39) |
splice site |
probably null |
|
|
R1844:Zbtb48
|
UTSW |
4 |
152,110,955 (GRCm39) |
missense |
probably benign |
|
|
R2383:Zbtb48
|
UTSW |
4 |
152,111,407 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3618:Zbtb48
|
UTSW |
4 |
152,110,484 (GRCm39) |
splice site |
probably null |
|
|
R3619:Zbtb48
|
UTSW |
4 |
152,110,484 (GRCm39) |
splice site |
probably null |
|
|
R5427:Zbtb48
|
UTSW |
4 |
152,105,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Zbtb48
|
UTSW |
4 |
152,105,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6155:Zbtb48
|
UTSW |
4 |
152,106,495 (GRCm39) |
splice site |
probably null |
|
|
R6157:Zbtb48
|
UTSW |
4 |
152,106,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6551:Zbtb48
|
UTSW |
4 |
152,106,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8161:Zbtb48
|
UTSW |
4 |
152,106,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8252:Zbtb48
|
UTSW |
4 |
152,105,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8370:Zbtb48
|
UTSW |
4 |
152,105,744 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8842:Zbtb48
|
UTSW |
4 |
152,104,496 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9299:Zbtb48
|
UTSW |
4 |
152,105,147 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9326:Zbtb48
|
UTSW |
4 |
152,111,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-05 |
Incidental Mutation