Incidental Mutation 'R2342:Zbtb10'
| ID |
246778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb10
|
| Ensembl Gene |
ENSMUSG00000069114 |
| Gene Name |
zinc finger and BTB domain containing 10 |
| Synonyms |
|
| MMRRC Submission |
040328-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.416)
|
| Stock # |
R2342 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
9315662-9350393 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9330255 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 538
(P538S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000155203]
|
| AlphaFold |
E9Q8X5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155203
AA Change: P538S
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119386
Gene: ENSMUSG00000069114
AA Change: P538S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
32 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
111 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
137 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
222 |
N/A |
INTRINSIC |
|
ZnF_TTF
|
239 |
321 |
7.92e-2 |
SMART |
|
BTB
|
357 |
456 |
4.02e-20 |
SMART |
|
internal_repeat_1
|
648 |
671 |
2.82e-12 |
PROSPERO |
|
internal_repeat_1
|
672 |
695 |
2.82e-12 |
PROSPERO |
|
ZnF_C2H2
|
714 |
736 |
6.78e-3 |
SMART |
|
ZnF_C2H2
|
742 |
764 |
2.09e-3 |
SMART |
|
low complexity region
|
765 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
842 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0838 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef28 |
C |
T |
13: 98,130,537 (GRCm39) |
E434K |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,515 (GRCm39) |
M236K |
probably benign |
Het |
| Camk1 |
T |
C |
6: 113,318,942 (GRCm39) |
|
probably benign |
Het |
| Chd8 |
A |
C |
14: 52,442,674 (GRCm39) |
N625K |
probably benign |
Het |
| Dcaf8 |
A |
G |
1: 172,013,928 (GRCm39) |
H373R |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,420,702 (GRCm39) |
T1728M |
probably damaging |
Het |
| Elf1 |
T |
C |
14: 79,802,896 (GRCm39) |
|
probably benign |
Het |
| Epha2 |
C |
T |
4: 141,050,842 (GRCm39) |
A866V |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,930,592 (GRCm39) |
Y237* |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,914,439 (GRCm39) |
C448* |
probably null |
Het |
| Gm4787 |
G |
T |
12: 81,425,532 (GRCm39) |
R209S |
possibly damaging |
Het |
| Hhipl1 |
T |
C |
12: 108,284,721 (GRCm39) |
L358P |
probably damaging |
Het |
| Hmgxb3 |
G |
A |
18: 61,296,063 (GRCm39) |
T315I |
possibly damaging |
Het |
| Irak2 |
C |
A |
6: 113,670,632 (GRCm39) |
T539K |
probably benign |
Het |
| Lrp1b |
C |
A |
2: 40,809,208 (GRCm39) |
G2568C |
possibly damaging |
Het |
| Meis1 |
C |
T |
11: 18,831,647 (GRCm39) |
A464T |
probably damaging |
Het |
| Or10g1b |
C |
A |
14: 52,627,322 (GRCm39) |
A303S |
possibly damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,116 (GRCm39) |
D317G |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,817,152 (GRCm39) |
S179P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,691 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
T |
A |
15: 99,204,049 (GRCm39) |
V174D |
probably damaging |
Het |
| Rnf169 |
T |
C |
7: 99,574,652 (GRCm39) |
K648E |
possibly damaging |
Het |
| Rtf1 |
A |
G |
2: 119,542,598 (GRCm39) |
T301A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,747,207 (GRCm39) |
V528A |
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,238,540 (GRCm39) |
V308A |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,354,680 (GRCm39) |
V335A |
possibly damaging |
Het |
| Skint6 |
T |
A |
4: 113,034,180 (GRCm39) |
T316S |
probably benign |
Het |
| Tbl2 |
G |
A |
5: 135,187,607 (GRCm39) |
R288Q |
possibly damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,353,599 (GRCm39) |
K1469E |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,501,316 (GRCm39) |
Y92H |
probably damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,923 (GRCm39) |
E80G |
probably damaging |
Het |
| Zup1 |
G |
A |
10: 33,804,113 (GRCm39) |
H454Y |
probably damaging |
Het |
|
| Other mutations in Zbtb10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02174:Zbtb10
|
APN |
3 |
9,316,872 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02207:Zbtb10
|
APN |
3 |
9,345,525 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02499:Zbtb10
|
APN |
3 |
9,316,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Zbtb10
|
APN |
3 |
9,330,297 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03294:Zbtb10
|
APN |
3 |
9,346,047 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0510:Zbtb10
|
UTSW |
3 |
9,329,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1859:Zbtb10
|
UTSW |
3 |
9,345,446 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R3407:Zbtb10
|
UTSW |
3 |
9,329,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4161:Zbtb10
|
UTSW |
3 |
9,345,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4301:Zbtb10
|
UTSW |
3 |
9,330,220 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4698:Zbtb10
|
UTSW |
3 |
9,329,610 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5184:Zbtb10
|
UTSW |
3 |
9,329,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5443:Zbtb10
|
UTSW |
3 |
9,345,108 (GRCm39) |
missense |
probably benign |
|
|
R5665:Zbtb10
|
UTSW |
3 |
9,330,252 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5744:Zbtb10
|
UTSW |
3 |
9,329,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Zbtb10
|
UTSW |
3 |
9,330,276 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5909:Zbtb10
|
UTSW |
3 |
9,345,109 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6547:Zbtb10
|
UTSW |
3 |
9,316,763 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6612:Zbtb10
|
UTSW |
3 |
9,317,125 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7457:Zbtb10
|
UTSW |
3 |
9,316,538 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8985:Zbtb10
|
UTSW |
3 |
9,345,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9191:Zbtb10
|
UTSW |
3 |
9,330,295 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9472:Zbtb10
|
UTSW |
3 |
9,343,355 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9616:Zbtb10
|
UTSW |
3 |
9,316,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Zbtb10
|
UTSW |
3 |
9,343,391 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGGACTATAACAATAGGAAGCC -3'
(R):5'- TTCTTCTGGGTAGGCAGCAG -3'
Sequencing Primer
(F):5'- CAGTTAGCAGGGACAGCCTG -3'
(R):5'- AGGGGGCTGCATCACTGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation