Incidental Mutation 'R6171:Zbtb5'
ID |
490426 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zbtb5
|
Ensembl Gene |
ENSMUSG00000049657 |
Gene Name |
zinc finger and BTB domain containing 5 |
Synonyms |
9430083K24Rik |
MMRRC Submission |
044314-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6171 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
44991242-45012412 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 44994119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 422
(T422A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136507
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045078]
[ENSMUST00000055028]
[ENSMUST00000107817]
[ENSMUST00000131991]
[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 benign
Transcript: ENSMUST00000055028
AA Change: T422A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000059919 Gene: ENSMUSG00000049657 AA Change: T422A
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: ENSMUST00000107817
AA Change: T422A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103447 Gene: ENSMUSG00000049657 AA Change: T422A
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: ENSMUST00000180217
AA Change: T422A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136507 Gene: ENSMUSG00000049657 AA Change: T422A
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprs |
A |
G |
4: 126,211,110 (GRCm39) |
V269A |
probably damaging |
Het |
Atp11a |
T |
A |
8: 12,882,663 (GRCm39) |
V517D |
probably damaging |
Het |
Atr |
C |
T |
9: 95,763,324 (GRCm39) |
Q1073* |
probably null |
Het |
C87436 |
A |
C |
6: 86,422,449 (GRCm39) |
T8P |
probably benign |
Het |
Clasrp |
T |
C |
7: 19,318,747 (GRCm39) |
|
probably benign |
Het |
Creb3l1 |
G |
T |
2: 91,821,614 (GRCm39) |
Q254K |
probably damaging |
Het |
Dapl1 |
C |
A |
2: 59,326,946 (GRCm39) |
T64K |
probably benign |
Het |
Dnah2 |
A |
T |
11: 69,313,868 (GRCm39) |
L4168Q |
probably damaging |
Het |
Dnttip2 |
T |
A |
3: 122,072,511 (GRCm39) |
I597N |
probably damaging |
Het |
Dyrk1b |
A |
T |
7: 27,885,975 (GRCm39) |
|
probably null |
Het |
Elk3 |
G |
T |
10: 93,085,906 (GRCm39) |
P132Q |
probably damaging |
Het |
Galt |
C |
T |
4: 41,757,541 (GRCm39) |
P238S |
probably damaging |
Het |
Gm10322 |
T |
C |
10: 59,452,084 (GRCm39) |
V67A |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,754,850 (GRCm39) |
Y412C |
probably benign |
Het |
Kcna1 |
A |
T |
6: 126,619,286 (GRCm39) |
Y345N |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,342,505 (GRCm39) |
Y419C |
probably damaging |
Het |
Klf15 |
G |
T |
6: 90,443,601 (GRCm39) |
A59S |
possibly damaging |
Het |
Mettl17 |
T |
A |
14: 52,126,236 (GRCm39) |
Y162N |
probably damaging |
Het |
Myh10 |
G |
A |
11: 68,682,716 (GRCm39) |
R1050Q |
probably damaging |
Het |
Nek4 |
T |
C |
14: 30,692,304 (GRCm39) |
V376A |
probably benign |
Het |
Nemp1 |
T |
A |
10: 127,525,319 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
T |
C |
7: 26,258,188 (GRCm39) |
I602T |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,628,906 (GRCm39) |
V764A |
probably damaging |
Het |
Or12e1 |
T |
A |
2: 87,022,709 (GRCm39) |
V226E |
possibly damaging |
Het |
Or8c17 |
C |
T |
9: 38,179,898 (GRCm39) |
Q22* |
probably null |
Het |
Osbp2 |
A |
T |
11: 3,667,221 (GRCm39) |
|
probably null |
Het |
Pax2 |
A |
G |
19: 44,779,179 (GRCm39) |
Y185C |
probably damaging |
Het |
Pdyn |
A |
T |
2: 129,530,268 (GRCm39) |
S134T |
possibly damaging |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Ppp1r13l |
A |
G |
7: 19,111,436 (GRCm39) |
M754V |
probably benign |
Het |
Prr23a3 |
T |
A |
9: 98,747,731 (GRCm39) |
N228K |
probably benign |
Het |
Psmd12 |
T |
C |
11: 107,382,733 (GRCm39) |
F213L |
probably damaging |
Het |
Qser1 |
A |
T |
2: 104,619,628 (GRCm39) |
S395T |
probably damaging |
Het |
Rab7b |
A |
G |
1: 131,626,372 (GRCm39) |
|
probably null |
Het |
Rev3l |
T |
A |
10: 39,738,709 (GRCm39) |
L2821* |
probably null |
Het |
Rplp0 |
A |
G |
5: 115,699,219 (GRCm39) |
N127S |
probably benign |
Het |
Serpina9 |
G |
T |
12: 103,974,678 (GRCm39) |
Y158* |
probably null |
Het |
Sis |
G |
A |
3: 72,868,360 (GRCm39) |
T110M |
possibly damaging |
Het |
Slc43a2 |
A |
G |
11: 75,453,876 (GRCm39) |
Y263C |
probably damaging |
Het |
Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
Stard13 |
A |
T |
5: 151,016,227 (GRCm39) |
V88E |
probably damaging |
Het |
Trim29 |
G |
A |
9: 43,230,674 (GRCm39) |
E286K |
probably damaging |
Het |
Vmn2r24 |
T |
C |
6: 123,764,205 (GRCm39) |
S361P |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,214,308 (GRCm39) |
T18A |
probably damaging |
Het |
Xylb |
C |
T |
9: 119,210,657 (GRCm39) |
T380M |
probably damaging |
Het |
Zhx2 |
A |
G |
15: 57,686,602 (GRCm39) |
E657G |
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 |
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 |
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'- GTTCTCCTTGGTAGCCTGAG -3'
(R):5'- AGAAGATAGACCTCAGCCCTG -3'
Sequencing Primer
(F):5'- TAGCCTGAGGTCTGCACACAG -3'
(R):5'- TCAGCCCTGAAAGCAGTG -3'
|
Posted On |
2017-10-10 |