Incidental Mutation 'R2383:Zbtb48'
| ID |
247601 |
| 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 # |
R2383 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
152104231-152112128 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 152111407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 36
(V36A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116423
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030792]
[ENSMUST00000066715]
[ENSMUST00000131935]
[ENSMUST00000155389]
[ENSMUST00000156748]
|
| AlphaFold |
Q1H9T6 |
| 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 |
possibly damaging
Transcript: ENSMUST00000066715
AA Change: V36A
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067521
Gene: ENSMUSG00000028952
AA Change: V36A
| 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 damaging
Transcript: ENSMUST00000131935
AA Change: V36A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116423
Gene: ENSMUSG00000028952
AA Change: V36A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
26 |
119 |
1.35e-21 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147895
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155389
AA Change: V36A
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114726
Gene: ENSMUSG00000028952
AA Change: V36A
| 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: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam33 |
T |
C |
2: 130,893,282 (GRCm39) |
T748A |
probably benign |
Het |
| Afg3l2 |
A |
G |
18: 67,556,026 (GRCm39) |
V435A |
possibly damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,484,208 (GRCm39) |
E345K |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,153,168 (GRCm39) |
I227V |
possibly damaging |
Het |
| Cndp2 |
C |
A |
18: 84,693,215 (GRCm39) |
D182Y |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,310,913 (GRCm39) |
|
probably benign |
Het |
| Cyp2e1 |
C |
T |
7: 140,349,981 (GRCm39) |
S222L |
probably benign |
Het |
| Evx2 |
T |
C |
2: 74,488,393 (GRCm39) |
|
probably null |
Het |
| Kics2 |
A |
G |
10: 121,586,554 (GRCm39) |
T290A |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,959 (GRCm39) |
E718G |
possibly damaging |
Het |
| Lgr4 |
T |
C |
2: 109,830,960 (GRCm39) |
S296P |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,429,590 (GRCm39) |
G162D |
probably damaging |
Het |
| Nap1l1 |
T |
G |
10: 111,329,272 (GRCm39) |
D295E |
probably damaging |
Het |
| Or2f1b |
A |
T |
6: 42,739,393 (GRCm39) |
M136L |
probably benign |
Het |
| Plrg1 |
C |
T |
3: 82,973,255 (GRCm39) |
P178S |
probably damaging |
Het |
| Serpina1b |
T |
A |
12: 103,694,539 (GRCm39) |
I402F |
probably benign |
Het |
| Sla |
T |
A |
15: 66,654,525 (GRCm39) |
I254F |
probably damaging |
Het |
| Slc25a29 |
A |
G |
12: 108,792,934 (GRCm39) |
S215P |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,666,854 (GRCm39) |
S459P |
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,595,572 (GRCm39) |
V1303A |
probably benign |
Het |
| Trim45 |
A |
T |
3: 100,832,543 (GRCm39) |
I259F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,536,856 (GRCm39) |
S34990G |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACTCTTTGGCTGCCAAG -3'
(R):5'- GGTGGATGTGCAAGTGTCCATC -3'
Sequencing Primer
(F):5'- AACTCTTTGGCTGCCAAGAGTAC -3'
(R):5'- TCTCACTCTCGGTCCAAAAGGG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation