Incidental Mutation 'R3618:Zbtb48'
ID |
268512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb48
|
Ensembl Gene |
ENSMUSG00000028952 |
Gene Name |
zinc finger and BTB domain containing 48 |
Synonyms |
0610011D15Rik, Hkr3 |
MMRRC Submission |
040675-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3618 (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: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
G |
3: 137,774,168 (GRCm39) |
E1119G |
probably damaging |
Het |
Ahnak2 |
A |
G |
12: 112,749,842 (GRCm39) |
I132T |
probably damaging |
Het |
Arhgap29 |
G |
A |
3: 121,782,176 (GRCm39) |
D63N |
possibly damaging |
Het |
Bsn |
T |
A |
9: 107,994,760 (GRCm39) |
|
probably null |
Het |
Cfap161 |
A |
C |
7: 83,429,390 (GRCm39) |
Y209* |
probably null |
Het |
Drp2 |
A |
C |
X: 133,340,717 (GRCm39) |
D458A |
probably benign |
Het |
Efcab6 |
T |
C |
15: 83,834,270 (GRCm39) |
H446R |
probably benign |
Het |
Enpep |
G |
C |
3: 129,077,807 (GRCm39) |
S603R |
possibly damaging |
Het |
F13a1 |
G |
A |
13: 37,127,967 (GRCm39) |
T337I |
probably damaging |
Het |
Fhod3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGA |
18: 25,153,722 (GRCm39) |
|
probably benign |
Het |
Hcfc1 |
A |
T |
X: 72,993,694 (GRCm39) |
V1157D |
probably benign |
Het |
Inava |
A |
C |
1: 136,142,110 (GRCm39) |
V663G |
probably benign |
Het |
Ino80 |
T |
C |
2: 119,277,353 (GRCm39) |
D374G |
probably null |
Het |
Kif1a |
T |
C |
1: 93,004,765 (GRCm39) |
E143G |
probably null |
Het |
Larp1 |
A |
T |
11: 57,948,172 (GRCm39) |
E990D |
probably benign |
Het |
Larp7 |
C |
A |
3: 127,330,614 (GRCm39) |
E568* |
probably null |
Het |
Ltn1 |
A |
T |
16: 87,217,787 (GRCm39) |
S298R |
probably damaging |
Het |
Mcm10 |
A |
G |
2: 5,001,913 (GRCm39) |
|
probably null |
Het |
Mef2a |
G |
A |
7: 66,918,075 (GRCm39) |
S111L |
probably benign |
Het |
Mroh1 |
A |
G |
15: 76,336,546 (GRCm39) |
T1590A |
possibly damaging |
Het |
Ncoa6 |
A |
T |
2: 155,249,709 (GRCm39) |
H1198Q |
possibly damaging |
Het |
Ogg1 |
A |
G |
6: 113,305,334 (GRCm39) |
E49G |
probably damaging |
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 |
Parp3 |
T |
C |
9: 106,352,262 (GRCm39) |
E88G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,735,965 (GRCm39) |
I156T |
probably benign |
Het |
Pus7l |
T |
A |
15: 94,425,788 (GRCm39) |
I538F |
probably damaging |
Het |
Rgs8 |
A |
G |
1: 153,566,742 (GRCm39) |
T98A |
probably null |
Het |
Ryr2 |
C |
T |
13: 11,787,466 (GRCm39) |
|
probably null |
Het |
Slc8a2 |
A |
G |
7: 15,886,824 (GRCm39) |
N656D |
possibly damaging |
Het |
Stard9 |
C |
T |
2: 120,529,500 (GRCm39) |
T1919I |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,372,591 (GRCm39) |
|
probably benign |
Het |
Trpv3 |
A |
T |
11: 73,186,281 (GRCm39) |
I691F |
probably damaging |
Het |
Uba2 |
A |
G |
7: 33,853,907 (GRCm39) |
|
probably null |
Het |
Usp53 |
A |
C |
3: 122,728,061 (GRCm39) |
S840R |
probably benign |
Het |
Vmn2r100 |
A |
T |
17: 19,743,692 (GRCm39) |
I452F |
probably benign |
Het |
Zfp385b |
G |
A |
2: 77,246,233 (GRCm39) |
P177S |
probably benign |
Het |
Zfp42 |
T |
C |
8: 43,748,938 (GRCm39) |
R188G |
possibly damaging |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACATGTGGGACATTCGACCG -3'
(R):5'- CCTTAGGTTAGTGATCCTGGCC -3'
Sequencing Primer
(F):5'- GGAACGGCTGCACCTTTTCTG -3'
(R):5'- GTTAGTGATCCTGGCCAGCTC -3'
|
Posted On |
2015-02-19 |