Incidental Mutation 'R0681:Zbtb5'
| ID |
60957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb5
|
| Ensembl Gene |
ENSMUSG00000049657 |
| Gene Name |
zinc finger and BTB domain containing 5 |
| Synonyms |
9430083K24Rik |
| MMRRC Submission |
038866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0681 (G1)
|
| Quality Score |
95 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
44991242-45012412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44993787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 532
(I532M)
|
| 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 |
probably damaging
Transcript: ENSMUST00000055028
AA Change: I532M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: I532M
| 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 damaging
Transcript: ENSMUST00000107817
AA Change: I532M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: I532M
| 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 |
probably damaging
Transcript: ENSMUST00000180217
AA Change: I532M
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: I532M
| 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 |
0.3760 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl1 |
G |
T |
8: 84,661,279 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
C |
A |
13: 81,676,649 (GRCm39) |
D1341Y |
probably damaging |
Het |
| Ahdc1 |
T |
C |
4: 132,792,827 (GRCm39) |
F1356S |
possibly damaging |
Het |
| Cdk13 |
A |
G |
13: 17,895,882 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
T |
1: 139,485,249 (GRCm39) |
S66T |
probably damaging |
Het |
| Cldn6 |
C |
A |
17: 23,900,167 (GRCm39) |
Q44K |
probably damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,550 (GRCm39) |
V863A |
possibly damaging |
Het |
| Col6a4 |
T |
A |
9: 105,944,343 (GRCm39) |
K1044* |
probably null |
Het |
| Cyb561d1 |
A |
G |
3: 108,106,583 (GRCm39) |
V212A |
probably benign |
Het |
| Cyp1b1 |
A |
G |
17: 80,021,275 (GRCm39) |
S156P |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,904,941 (GRCm39) |
H645Y |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,964,682 (GRCm39) |
N542D |
probably damaging |
Het |
| Fastkd3 |
C |
T |
13: 68,740,047 (GRCm39) |
|
probably benign |
Het |
| Galnt10 |
T |
A |
11: 57,660,366 (GRCm39) |
V268D |
probably damaging |
Het |
| Grb14 |
G |
T |
2: 64,747,631 (GRCm39) |
A10E |
probably damaging |
Het |
| Grin2c |
A |
G |
11: 115,140,479 (GRCm39) |
V1213A |
probably benign |
Het |
| Grip1 |
C |
T |
10: 119,846,135 (GRCm39) |
T570I |
probably damaging |
Het |
| Hif1an |
T |
C |
19: 44,551,762 (GRCm39) |
Y71H |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,151,072 (GRCm39) |
I221L |
probably benign |
Het |
| Htra1 |
A |
T |
7: 130,581,027 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,891,591 (GRCm39) |
E2308G |
possibly damaging |
Het |
| Mapk9 |
T |
A |
11: 49,760,072 (GRCm39) |
S129T |
probably damaging |
Het |
| Med22 |
T |
C |
2: 26,800,391 (GRCm39) |
T13A |
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mtus1 |
A |
T |
8: 41,446,554 (GRCm39) |
L489Q |
probably damaging |
Het |
| Naprt |
G |
A |
15: 75,765,481 (GRCm39) |
P120S |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,965 (GRCm39) |
P172L |
probably damaging |
Het |
| Ogfod2 |
A |
G |
5: 124,250,907 (GRCm39) |
E62G |
probably null |
Het |
| Or13a1 |
A |
T |
6: 116,471,361 (GRCm39) |
S264C |
probably damaging |
Het |
| Or5b12b |
A |
G |
19: 12,861,910 (GRCm39) |
T222A |
probably damaging |
Het |
| Or5b12b |
T |
C |
19: 12,861,443 (GRCm39) |
L66P |
probably damaging |
Het |
| Palm |
A |
C |
10: 79,655,327 (GRCm39) |
T362P |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,056,509 (GRCm39) |
H1056P |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,007,400 (GRCm39) |
T388A |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,332 (GRCm39) |
I1397V |
unknown |
Het |
| Per1 |
A |
G |
11: 68,992,027 (GRCm39) |
E127G |
probably damaging |
Het |
| Plekha1 |
T |
C |
7: 130,502,353 (GRCm39) |
V30A |
possibly damaging |
Het |
| Pramel24 |
A |
T |
4: 143,454,622 (GRCm39) |
T307S |
probably benign |
Het |
| Rab26 |
A |
G |
17: 24,746,940 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,750 (GRCm39) |
D999G |
possibly damaging |
Het |
| Rfx5 |
C |
T |
3: 94,863,666 (GRCm39) |
T105I |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,279,369 (GRCm39) |
S677P |
probably damaging |
Het |
| Scaf4 |
G |
A |
16: 90,046,582 (GRCm39) |
P485S |
unknown |
Het |
| Scn5a |
A |
T |
9: 119,368,706 (GRCm39) |
M273K |
probably damaging |
Het |
| Sec22a |
C |
T |
16: 35,181,926 (GRCm39) |
|
probably null |
Het |
| Slc10a6 |
C |
A |
5: 103,760,315 (GRCm39) |
V227F |
possibly damaging |
Het |
| Slc39a3 |
C |
G |
10: 80,869,565 (GRCm39) |
E31Q |
probably benign |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| Tdrd7 |
T |
A |
4: 46,016,879 (GRCm39) |
M673K |
probably benign |
Het |
| Trim8 |
C |
A |
19: 46,503,532 (GRCm39) |
S361R |
possibly damaging |
Het |
| Ucp1 |
T |
A |
8: 84,021,936 (GRCm39) |
M256K |
possibly damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,946 (GRCm39) |
D265V |
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 |
|
|
R1426:Zbtb5
|
UTSW |
4 |
44,993,968 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- ACCAAGACATTGTGCTCCGATAAGG -3'
(R):5'- GTTCCCATGTAGAGAACCCGTTCAG -3'
Sequencing Primer
(F):5'- GGCCTTCTTGCACTTTGAC -3'
(R):5'- ACTTCGTCAGACCTATGCAGG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation