Incidental Mutation 'R4131:Zbtb40'
| ID |
314667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb40
|
| Ensembl Gene |
ENSMUSG00000060862 |
| Gene Name |
zinc finger and BTB domain containing 40 |
| Synonyms |
|
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R4131 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136707043-136776112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 136722707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 790
(S790R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049583]
|
| AlphaFold |
Q6PCS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049583
AA Change: S790R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: S790R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
14 |
N/A |
INTRINSIC |
|
BTB
|
24 |
117 |
3.39e-18 |
SMART |
|
low complexity region
|
150 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
533 |
N/A |
INTRINSIC |
|
low complexity region
|
725 |
741 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
754 |
774 |
4.86e1 |
SMART |
|
low complexity region
|
786 |
801 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
825 |
848 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
854 |
876 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
882 |
905 |
1.16e-1 |
SMART |
|
ZnF_C2H2
|
911 |
933 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
939 |
962 |
8.81e-2 |
SMART |
|
ZnF_C2H2
|
969 |
992 |
7.05e-1 |
SMART |
|
ZnF_C2H2
|
997 |
1019 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
1025 |
1047 |
2.86e-1 |
SMART |
|
ZnF_C2H2
|
1065 |
1088 |
6.67e-2 |
SMART |
|
ZnF_C2H2
|
1094 |
1117 |
6.23e-2 |
SMART |
|
ZnF_C2H2
|
1123 |
1146 |
1.53e-1 |
SMART |
|
ZnF_C2H2
|
1154 |
1177 |
1.56e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218160
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
| Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Itgb2l |
A |
G |
16: 96,238,589 (GRCm39) |
L70P |
probably damaging |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
|
| Other mutations in Zbtb40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00473:Zbtb40
|
APN |
4 |
136,714,651 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00573:Zbtb40
|
APN |
4 |
136,745,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00774:Zbtb40
|
APN |
4 |
136,721,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Zbtb40
|
UTSW |
4 |
136,714,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Zbtb40
|
UTSW |
4 |
136,714,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Zbtb40
|
UTSW |
4 |
136,713,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Zbtb40
|
UTSW |
4 |
136,745,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0482:Zbtb40
|
UTSW |
4 |
136,710,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Zbtb40
|
UTSW |
4 |
136,712,148 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1846:Zbtb40
|
UTSW |
4 |
136,735,150 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2153:Zbtb40
|
UTSW |
4 |
136,718,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2206:Zbtb40
|
UTSW |
4 |
136,744,596 (GRCm39) |
nonsense |
probably null |
|
|
R2291:Zbtb40
|
UTSW |
4 |
136,712,328 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2406:Zbtb40
|
UTSW |
4 |
136,725,879 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3707:Zbtb40
|
UTSW |
4 |
136,726,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4243:Zbtb40
|
UTSW |
4 |
136,745,860 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4424:Zbtb40
|
UTSW |
4 |
136,726,005 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4725:Zbtb40
|
UTSW |
4 |
136,746,072 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4784:Zbtb40
|
UTSW |
4 |
136,734,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4795:Zbtb40
|
UTSW |
4 |
136,725,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4796:Zbtb40
|
UTSW |
4 |
136,725,953 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4838:Zbtb40
|
UTSW |
4 |
136,728,527 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4859:Zbtb40
|
UTSW |
4 |
136,716,070 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4883:Zbtb40
|
UTSW |
4 |
136,728,241 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5001:Zbtb40
|
UTSW |
4 |
136,723,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Zbtb40
|
UTSW |
4 |
136,725,263 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5060:Zbtb40
|
UTSW |
4 |
136,728,604 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5529:Zbtb40
|
UTSW |
4 |
136,710,474 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5536:Zbtb40
|
UTSW |
4 |
136,714,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Zbtb40
|
UTSW |
4 |
136,722,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Zbtb40
|
UTSW |
4 |
136,716,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6393:Zbtb40
|
UTSW |
4 |
136,712,177 (GRCm39) |
missense |
probably null |
|
|
R7208:Zbtb40
|
UTSW |
4 |
136,726,937 (GRCm39) |
splice site |
probably null |
|
|
R7406:Zbtb40
|
UTSW |
4 |
136,728,205 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7722:Zbtb40
|
UTSW |
4 |
136,718,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7803:Zbtb40
|
UTSW |
4 |
136,744,638 (GRCm39) |
missense |
probably benign |
|
|
R8292:Zbtb40
|
UTSW |
4 |
136,726,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Zbtb40
|
UTSW |
4 |
136,725,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Zbtb40
|
UTSW |
4 |
136,725,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9003:Zbtb40
|
UTSW |
4 |
136,745,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Zbtb40
|
UTSW |
4 |
136,745,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9328:Zbtb40
|
UTSW |
4 |
136,745,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF014:Zbtb40
|
UTSW |
4 |
136,744,617 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1176:Zbtb40
|
UTSW |
4 |
136,722,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Zbtb40
|
UTSW |
4 |
136,745,335 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGTGCTGAAGACATCCGC -3'
(R):5'- AGACTGCCAGGCCAATGAAC -3'
Sequencing Primer
(F):5'- TGAAGACATCCGCACTCAGGG -3'
(R):5'- CTGCCAGGCCAATGAACAAAAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation