Incidental Mutation 'R1426:Zbtb5'
| ID |
162241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb5
|
| Ensembl Gene |
ENSMUSG00000049657 |
| Gene Name |
zinc finger and BTB domain containing 5 |
| Synonyms |
9430083K24Rik |
| MMRRC Submission |
039482-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1426 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
44991242-45012412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44993968 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 472
(H472R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045078]
[ENSMUST00000055028]
[ENSMUST00000107817]
[ENSMUST00000131991]
[ENSMUST00000151148]
[ENSMUST00000180217]
|
| AlphaFold |
Q7TQG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045078
|
| SMART Domains |
Protein: ENSMUSP00000047218
Gene: ENSMUSG00000035637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
9 |
327 |
1.4e-28 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
116 |
295 |
1.3e-59 |
PFAM |
|
Pfam:NAD_binding_2
|
153 |
272 |
3.4e-8 |
PFAM |
|
Pfam:F420_oxidored
|
155 |
244 |
3.2e-6 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055028
AA Change: H472R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: H472R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107817
AA Change: H472R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: H472R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131991
|
| SMART Domains |
Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151148
|
| SMART Domains |
Protein: ENSMUSP00000120254
Gene: ENSMUSG00000035637
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:2-Hacid_dh
|
10 |
207 |
4.5e-15 |
PFAM |
|
Pfam:2-Hacid_dh_C
|
63 |
222 |
2.2e-51 |
PFAM |
|
Pfam:NAD_binding_2
|
100 |
219 |
3.3e-9 |
PFAM |
|
Pfam:F420_oxidored
|
102 |
191 |
5.4e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180217
AA Change: H472R
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: H472R
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
123 |
1.06e-28 |
SMART |
|
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
345 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
554 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
606 |
628 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
634 |
654 |
2.47e1 |
SMART |
|
| Meta Mutation Damage Score |
0.0599 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.1%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,635,361 (GRCm39) |
V214E |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,992,556 (GRCm39) |
D224G |
probably damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,164,459 (GRCm39) |
Q554H |
probably damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Brat1 |
G |
A |
5: 140,703,768 (GRCm39) |
V674I |
probably benign |
Het |
| Brd2 |
ATCTTCTTC |
ATCTTC |
17: 34,332,981 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
T |
C |
10: 41,429,178 (GRCm39) |
D438G |
possibly damaging |
Het |
| Cyp4x1 |
T |
A |
4: 114,969,988 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,115,654 (GRCm39) |
|
probably benign |
Het |
| Eif2s1 |
A |
G |
12: 78,927,942 (GRCm39) |
D206G |
probably benign |
Het |
| Elovl7 |
T |
A |
13: 108,419,028 (GRCm39) |
I220N |
possibly damaging |
Het |
| Gsto1 |
A |
G |
19: 47,846,381 (GRCm39) |
E76G |
probably damaging |
Het |
| Hspa14 |
A |
T |
2: 3,509,858 (GRCm39) |
W12R |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,560,518 (GRCm39) |
C260S |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,614,155 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,728 (GRCm39) |
|
probably benign |
Het |
| Lrrc45 |
A |
T |
11: 120,610,839 (GRCm39) |
Q525L |
probably benign |
Het |
| Lss |
T |
C |
10: 76,372,137 (GRCm39) |
I164T |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,023,795 (GRCm39) |
K1527* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,320,737 (GRCm39) |
|
probably benign |
Het |
| Or5an1c |
G |
T |
19: 12,218,546 (GRCm39) |
Q160K |
possibly damaging |
Het |
| Or6c38 |
A |
T |
10: 128,929,559 (GRCm39) |
C95S |
probably damaging |
Het |
| Pafah1b3 |
T |
C |
7: 24,996,560 (GRCm39) |
E41G |
possibly damaging |
Het |
| Pnma8a |
C |
T |
7: 16,694,909 (GRCm39) |
P255S |
possibly damaging |
Het |
| Prkar2b |
A |
T |
12: 32,012,987 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
A |
T |
2: 152,169,161 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
A |
G |
19: 7,248,395 (GRCm39) |
S137G |
possibly damaging |
Het |
| Slc25a48 |
T |
A |
13: 56,596,804 (GRCm39) |
|
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,391,808 (GRCm39) |
|
probably null |
Het |
| Tert |
T |
C |
13: 73,790,472 (GRCm39) |
|
probably benign |
Het |
| Traf7 |
A |
T |
17: 24,730,655 (GRCm39) |
I344N |
probably damaging |
Het |
| Vmn1r194 |
T |
A |
13: 22,429,236 (GRCm39) |
F284L |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,470,220 (GRCm39) |
M699T |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,802,013 (GRCm39) |
V88A |
probably benign |
Het |
| Zkscan7 |
T |
C |
9: 122,724,228 (GRCm39) |
I399T |
probably benign |
Het |
| Zyg11b |
G |
A |
4: 108,108,009 (GRCm39) |
R466C |
probably damaging |
Het |
|
| Other mutations in Zbtb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01995:Zbtb5
|
APN |
4 |
44,995,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02516:Zbtb5
|
APN |
4 |
44,993,798 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02525:Zbtb5
|
APN |
4 |
44,994,731 (GRCm39) |
missense |
probably benign |
|
|
IGL03172:Zbtb5
|
APN |
4 |
44,994,003 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL03205:Zbtb5
|
APN |
4 |
44,994,949 (GRCm39) |
missense |
probably damaging |
0.96 |
|
madeleine
|
UTSW |
4 |
44,994,863 (GRCm39) |
splice site |
probably null |
|
|
R0681:Zbtb5
|
UTSW |
4 |
44,993,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1577:Zbtb5
|
UTSW |
4 |
44,995,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Zbtb5
|
UTSW |
4 |
44,993,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1817:Zbtb5
|
UTSW |
4 |
44,993,767 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2919:Zbtb5
|
UTSW |
4 |
44,994,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3722:Zbtb5
|
UTSW |
4 |
44,994,863 (GRCm39) |
splice site |
probably null |
|
|
R4222:Zbtb5
|
UTSW |
4 |
44,993,855 (GRCm39) |
splice site |
probably null |
|
|
R5217:Zbtb5
|
UTSW |
4 |
44,993,990 (GRCm39) |
missense |
probably benign |
|
|
R5326:Zbtb5
|
UTSW |
4 |
44,995,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Zbtb5
|
UTSW |
4 |
44,993,941 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5542:Zbtb5
|
UTSW |
4 |
44,995,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5912:Zbtb5
|
UTSW |
4 |
44,993,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6171:Zbtb5
|
UTSW |
4 |
44,994,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6337:Zbtb5
|
UTSW |
4 |
44,993,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6566:Zbtb5
|
UTSW |
4 |
44,994,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7481:Zbtb5
|
UTSW |
4 |
44,994,905 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7534:Zbtb5
|
UTSW |
4 |
44,995,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Zbtb5
|
UTSW |
4 |
44,994,724 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7557:Zbtb5
|
UTSW |
4 |
44,995,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7584:Zbtb5
|
UTSW |
4 |
44,993,678 (GRCm39) |
missense |
probably benign |
|
|
R7831:Zbtb5
|
UTSW |
4 |
44,995,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8065:Zbtb5
|
UTSW |
4 |
44,994,972 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8067:Zbtb5
|
UTSW |
4 |
44,994,972 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8491:Zbtb5
|
UTSW |
4 |
44,995,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Zbtb5
|
UTSW |
4 |
44,993,962 (GRCm39) |
missense |
probably benign |
|
|
R9509:Zbtb5
|
UTSW |
4 |
44,994,332 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAAAGTTACTGGCCCCTCCTC -3'
(R):5'- GGACATCCACATCTTGGAAGTCACG -3'
Sequencing Primer
(F):5'- TGTTCTCCTTGGTAGCCTGA -3'
(R):5'- CAATTTTCTCAACAAGAGCAGGG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation