Incidental Mutation 'R8067:Zbtb5'
| ID |
620049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb5
|
| Ensembl Gene |
ENSMUSG00000049657 |
| Gene Name |
zinc finger and BTB domain containing 5 |
| Synonyms |
9430083K24Rik |
| MMRRC Submission |
067502-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8067 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
44991242-45012412 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44994972 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 137
(S137R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059919
(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: S137R
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000059919
Gene: ENSMUSG00000049657
AA Change: S137R
| 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: S137R
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103447
Gene: ENSMUSG00000049657
AA Change: S137R
| 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
AA Change: S137R
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000122991
Gene: ENSMUSG00000049657
AA Change: S137R
| 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: S137R
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136507
Gene: ENSMUSG00000049657
AA Change: S137R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
A |
T |
8: 13,608,643 (GRCm39) |
D145E |
possibly damaging |
Het |
| Adcy7 |
T |
C |
8: 89,037,697 (GRCm39) |
L255P |
probably damaging |
Het |
| Cbx7 |
A |
T |
15: 79,818,099 (GRCm39) |
V1D |
unknown |
Het |
| Cd209c |
A |
C |
8: 3,995,700 (GRCm39) |
M34R |
probably benign |
Het |
| Chodl |
A |
T |
16: 78,743,601 (GRCm39) |
L229F |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,053,252 (GRCm39) |
N197K |
possibly damaging |
Het |
| Dnai1 |
T |
A |
4: 41,614,258 (GRCm39) |
D311E |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,400,392 (GRCm39) |
Y1017C |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,562,336 (GRCm39) |
L927* |
probably null |
Het |
| Dpp10 |
A |
G |
1: 123,280,389 (GRCm39) |
S646P |
probably benign |
Het |
| Ebf1 |
G |
A |
11: 44,511,374 (GRCm39) |
V90M |
probably benign |
Het |
| Efhd1 |
C |
T |
1: 87,192,313 (GRCm39) |
P48S |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,398,380 (GRCm39) |
T908A |
probably benign |
Het |
| Fbxl16 |
G |
A |
17: 26,036,957 (GRCm39) |
V313I |
probably damaging |
Het |
| Git2 |
C |
T |
5: 114,904,579 (GRCm39) |
M113I |
probably damaging |
Het |
| Gpr87 |
T |
A |
3: 59,087,308 (GRCm39) |
I66F |
probably damaging |
Het |
| H60c |
A |
C |
10: 3,209,338 (GRCm39) |
L217V |
unknown |
Het |
| Iba57 |
T |
C |
11: 59,054,086 (GRCm39) |
|
probably benign |
Het |
| Igkv11-125 |
C |
A |
6: 67,890,814 (GRCm39) |
T44N |
probably benign |
Het |
| Itih2 |
T |
A |
2: 10,128,294 (GRCm39) |
I136F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Mylk |
A |
T |
16: 34,792,389 (GRCm39) |
E1570V |
probably benign |
Het |
| N4bp2 |
T |
A |
5: 65,964,639 (GRCm39) |
L896H |
probably damaging |
Het |
| Ndc1 |
T |
A |
4: 107,247,595 (GRCm39) |
S468T |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,094 (GRCm39) |
N512S |
probably damaging |
Het |
| Or51b6 |
A |
G |
7: 103,555,610 (GRCm39) |
|
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,568,147 (GRCm39) |
I174F |
probably damaging |
Het |
| Plekhn1 |
T |
C |
4: 156,312,697 (GRCm39) |
I54V |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,622,968 (GRCm39) |
E350G |
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,390,976 (GRCm39) |
W1342R |
probably damaging |
Het |
| Pum1 |
T |
C |
4: 130,478,836 (GRCm39) |
V486A |
possibly damaging |
Het |
| Rin2 |
T |
G |
2: 145,702,977 (GRCm39) |
S558A |
probably damaging |
Het |
| Ripk4 |
A |
T |
16: 97,564,737 (GRCm39) |
V58D |
probably damaging |
Het |
| Smyd3 |
A |
G |
1: 179,238,028 (GRCm39) |
M113T |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,843,984 (GRCm39) |
|
probably null |
Het |
| Srgap3 |
C |
T |
6: 112,716,325 (GRCm39) |
R625H |
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,619,602 (GRCm39) |
V2210I |
probably benign |
Het |
| Tmed2 |
T |
C |
5: 124,684,986 (GRCm39) |
I134T |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,464 (GRCm39) |
S353R |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,207,652 (GRCm39) |
R902W |
probably benign |
Het |
| Zfp286 |
A |
T |
11: 62,644,345 (GRCm39) |
I192K |
unknown |
Het |
| Zfp942 |
T |
C |
17: 22,149,391 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,323 (GRCm39) |
S461P |
probably benign |
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 |
|
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 |
|
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'- CTACAGACTGTTTGCGCTTG -3'
(R):5'- ATCCAGCTAGATAGTGAGGTGG -3'
Sequencing Primer
(F):5'- CTACAGACTGTTTGCGCTTGTGAAG -3'
(R):5'- TCGCCGCCCTGATTGAC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation