Incidental Mutation 'R3619:Zbtb48'
| ID |
268551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb48
|
| Ensembl Gene |
ENSMUSG00000028952 |
| Gene Name |
zinc finger and BTB domain containing 48 |
| Synonyms |
0610011D15Rik, Hkr3 |
| MMRRC Submission |
040676-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3619 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152104231-152112128 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 152110484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030792]
[ENSMUST00000066715]
[ENSMUST00000131935]
[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: ENSMUST00000030792
|
| SMART Domains |
Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
75 |
456 |
1.7e-69 |
PFAM |
|
Pfam:NCD3G
|
494 |
546 |
2.1e-15 |
PFAM |
|
Pfam:7tm_3
|
578 |
815 |
3.9e-33 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066715
|
| SMART Domains |
Protein: ENSMUSP00000067521
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 |
|
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 |
noncoding transcript
Transcript: ENSMUST00000123696
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131935
|
| SMART Domains |
Protein: ENSMUSP00000116423
Gene: ENSMUSG00000028952
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc82 |
T |
A |
9: 13,251,931 (GRCm39) |
D74E |
probably benign |
Het |
| Chmp3 |
T |
A |
6: 71,554,809 (GRCm39) |
I168N |
probably damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,194 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,926,118 (GRCm39) |
S673P |
possibly damaging |
Het |
| Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
| Fgf11 |
T |
C |
11: 69,690,234 (GRCm39) |
S118G |
probably benign |
Het |
| Foxi3 |
T |
C |
6: 70,934,047 (GRCm39) |
L178P |
probably damaging |
Het |
| Gbx1 |
G |
T |
5: 24,731,111 (GRCm39) |
P235Q |
probably benign |
Het |
| Gm8267 |
A |
T |
14: 44,961,513 (GRCm39) |
M60K |
possibly damaging |
Het |
| Gnmt |
G |
A |
17: 47,039,963 (GRCm39) |
R39C |
possibly damaging |
Het |
| Hnrnpab |
T |
C |
11: 51,493,438 (GRCm39) |
N257D |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,562,758 (GRCm39) |
A508S |
probably benign |
Het |
| Lrif1 |
A |
G |
3: 106,639,862 (GRCm39) |
K316E |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,961,721 (GRCm39) |
F436I |
probably damaging |
Het |
| Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
| Micu1 |
T |
C |
10: 59,604,080 (GRCm39) |
|
probably null |
Het |
| Mpst |
A |
G |
15: 78,294,322 (GRCm39) |
E18G |
probably damaging |
Het |
| Npepps |
G |
T |
11: 97,139,091 (GRCm39) |
F160L |
possibly damaging |
Het |
| Or10al2 |
T |
A |
17: 37,983,531 (GRCm39) |
F206I |
probably benign |
Het |
| Or5p81 |
A |
T |
7: 108,267,057 (GRCm39) |
I145F |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,026,623 (GRCm39) |
|
probably null |
Het |
| Palm3 |
T |
A |
8: 84,755,973 (GRCm39) |
V495E |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,157 (GRCm39) |
F809L |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pcdha12 |
G |
A |
18: 37,153,757 (GRCm39) |
D159N |
probably damaging |
Het |
| Plxna1 |
C |
A |
6: 89,334,435 (GRCm39) |
A65S |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,408,077 (GRCm39) |
Y945C |
probably damaging |
Het |
| Pym1 |
T |
G |
10: 128,601,073 (GRCm39) |
V31G |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
| Tas1r3 |
C |
T |
4: 155,945,410 (GRCm39) |
V604I |
probably damaging |
Het |
| Ttc27 |
G |
A |
17: 75,058,123 (GRCm39) |
|
probably null |
Het |
| Wfdc6b |
A |
T |
2: 164,456,826 (GRCm39) |
Y46F |
probably benign |
Het |
| Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
|
| 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 |
|
I0000:Zbtb48
|
UTSW |
4 |
152,104,315 (GRCm39) |
missense |
probably benign |
0.34 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATGTGGGACATTCGAC -3'
(R):5'- TAGGTTAGTGATCCTGGCCAG -3'
Sequencing Primer
(F):5'- GGAACGGCTGCACCTTTTCTG -3'
(R):5'- TGATCCTGGCCAGCTCCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation