Incidental Mutation 'IGL00095:Zbtb48'
| ID |
1683 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL00095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152104231-152112128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152105851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 418
(H418R)
|
| 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 damaging
Transcript: ENSMUST00000066715
AA Change: H418R
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: H418R
| 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 |
possibly damaging
Transcript: ENSMUST00000155389
AA Change: T451A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952
AA Change: T451A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
| Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
| Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
| Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
| Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
| Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
| Hapln3 |
T |
C |
7: 78,771,731 (GRCm39) |
T53A |
probably damaging |
Het |
| Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,684,012 (GRCm39) |
I120N |
possibly damaging |
Het |
| Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
| Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
| Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
| Mpeg1 |
T |
C |
19: 12,440,074 (GRCm39) |
F511L |
probably benign |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
| Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
| Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
| Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
| Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
| Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
| Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
| Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
| Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
| Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,297,400 (GRCm39) |
T577M |
probably damaging |
Het |
| Tap2 |
C |
T |
17: 34,434,352 (GRCm39) |
R613C |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
| Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
| Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
| Zc3h12d |
T |
C |
10: 7,738,231 (GRCm39) |
V179A |
probably damaging |
Het |
|
| Other mutations in Zbtb48 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2011-07-12 |
Incidental Mutation