Incidental Mutation 'R5060:Zbtb40'
| ID |
386553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zbtb40
|
| Ensembl Gene |
ENSMUSG00000060862 |
| Gene Name |
zinc finger and BTB domain containing 40 |
| Synonyms |
|
| MMRRC Submission |
042650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5060 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
136707043-136776112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136728604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 413
(V413A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049583]
|
| AlphaFold |
Q6PCS8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049583
AA Change: V413A
PolyPhen 2
Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061899
Gene: ENSMUSG00000060862
AA Change: V413A
| 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 |
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
T |
17: 48,474,107 (GRCm39) |
L17Q |
probably damaging |
Het |
| Abca6 |
A |
G |
11: 110,110,430 (GRCm39) |
V573A |
possibly damaging |
Het |
| Abcc9 |
A |
G |
6: 142,571,836 (GRCm39) |
|
probably benign |
Het |
| Actg1 |
A |
G |
11: 120,237,839 (GRCm39) |
S234P |
probably benign |
Het |
| Acvr2a |
A |
G |
2: 48,780,311 (GRCm39) |
D177G |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,300,054 (GRCm39) |
C914R |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,298,621 (GRCm39) |
I103T |
possibly damaging |
Het |
| Als2cl |
C |
T |
9: 110,713,205 (GRCm39) |
L32F |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,739,570 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
A |
10: 128,225,710 (GRCm39) |
S959R |
possibly damaging |
Het |
| Bnc2 |
C |
A |
4: 84,449,872 (GRCm39) |
A122S |
probably benign |
Het |
| Cert1 |
A |
T |
13: 96,739,663 (GRCm39) |
K226N |
probably benign |
Het |
| Cfap54 |
C |
T |
10: 92,875,013 (GRCm39) |
V443M |
probably damaging |
Het |
| Cilk1 |
C |
T |
9: 78,060,978 (GRCm39) |
T208I |
probably benign |
Het |
| Clca4b |
T |
A |
3: 144,617,267 (GRCm39) |
R794S |
probably damaging |
Het |
| Cyp2c65 |
T |
C |
19: 39,049,514 (GRCm39) |
L14P |
unknown |
Het |
| Ggt5 |
T |
C |
10: 75,440,608 (GRCm39) |
M243T |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,482 (GRCm39) |
I292T |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,386,355 (GRCm39) |
V341E |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,167 (GRCm39) |
F359S |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,010,441 (GRCm39) |
K340* |
probably null |
Het |
| Heatr9 |
T |
C |
11: 83,403,258 (GRCm39) |
E427G |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,358,195 (GRCm39) |
G102D |
unknown |
Het |
| Mark3 |
T |
C |
12: 111,584,760 (GRCm39) |
F119L |
probably damaging |
Het |
| Melk |
T |
C |
4: 44,350,959 (GRCm39) |
V500A |
probably benign |
Het |
| Mrpl41 |
A |
G |
2: 24,864,295 (GRCm39) |
F126L |
probably damaging |
Het |
| Or10c1 |
C |
A |
17: 37,522,307 (GRCm39) |
A146S |
probably benign |
Het |
| Or6c3b |
C |
T |
10: 129,527,699 (GRCm39) |
M70I |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,506,928 (GRCm39) |
S372T |
probably benign |
Het |
| Pax7 |
A |
T |
4: 139,556,906 (GRCm39) |
I118N |
probably damaging |
Het |
| Plcl1 |
G |
T |
1: 55,735,671 (GRCm39) |
M337I |
possibly damaging |
Het |
| Poc1a |
G |
T |
9: 106,227,012 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
A |
G |
5: 130,240,844 (GRCm39) |
Y321C |
probably damaging |
Het |
| Rhobtb3 |
A |
C |
13: 76,061,389 (GRCm39) |
L252R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,004,063 (GRCm39) |
V1639A |
probably benign |
Het |
| Tff1 |
A |
G |
17: 31,381,682 (GRCm39) |
V65A |
probably damaging |
Het |
| Trpm4 |
G |
T |
7: 44,971,258 (GRCm39) |
D222E |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,643,741 (GRCm39) |
D13162E |
probably damaging |
Het |
| Unc5d |
A |
T |
8: 29,209,723 (GRCm39) |
S466T |
probably benign |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,683 (GRCm39) |
Y167C |
probably damaging |
Het |
| Vwde |
C |
T |
6: 13,208,323 (GRCm39) |
|
probably null |
Het |
| Xpr1 |
T |
C |
1: 155,204,430 (GRCm39) |
|
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 |
|
R4131:Zbtb40
|
UTSW |
4 |
136,722,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- ATCTGCGACAGTGAGCTTG -3'
(R):5'- TCCGGCTGTGTGTCAGATTC -3'
Sequencing Primer
(F):5'- ACAGTGAGCTTGCTTCGTAATGC -3'
(R):5'- TCATTGTGAATTGCAGTAACTGG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation