Incidental Mutation 'R6708:Btbd3'
| ID |
529007 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd3
|
| Ensembl Gene |
ENSMUSG00000062098 |
| Gene Name |
BTB domain containing 3 |
| Synonyms |
|
| MMRRC Submission |
044826-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.568)
|
| Stock # |
R6708 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
138098478-138129344 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138125491 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 225
(E225G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075410]
[ENSMUST00000091556]
|
| AlphaFold |
P58545 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075410
AA Change: E225G
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074864
Gene: ENSMUSG00000062098
AA Change: E225G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
BTB
|
128 |
228 |
5.55e-23 |
SMART |
|
BACK
|
234 |
343 |
1.11e-12 |
SMART |
|
Pfam:PHR
|
384 |
529 |
4.1e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091556
AA Change: E156G
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000089144
Gene: ENSMUSG00000062098
AA Change: E156G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
32 |
N/A |
INTRINSIC |
|
BTB
|
59 |
159 |
5.55e-23 |
SMART |
|
BACK
|
165 |
274 |
1.11e-12 |
SMART |
|
Pfam:PHR
|
315 |
461 |
8.6e-48 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155646
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
C |
8: 41,249,531 (GRCm39) |
L547P |
probably damaging |
Het |
| Atp8b5 |
T |
G |
4: 43,334,249 (GRCm39) |
H338Q |
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,590,294 (GRCm39) |
I409T |
probably benign |
Het |
| Cep55 |
T |
A |
19: 38,048,709 (GRCm39) |
S122T |
probably benign |
Het |
| Col5a3 |
G |
A |
9: 20,686,331 (GRCm39) |
P1382L |
unknown |
Het |
| Ehmt2 |
A |
T |
17: 35,118,875 (GRCm39) |
K186* |
probably null |
Het |
| Elavl2 |
A |
T |
4: 91,141,634 (GRCm39) |
I295N |
probably damaging |
Het |
| Elf5 |
A |
G |
2: 103,279,334 (GRCm39) |
D185G |
probably damaging |
Het |
| Emx1 |
A |
G |
6: 85,171,122 (GRCm39) |
E175G |
probably damaging |
Het |
| Fan1 |
T |
G |
7: 64,022,554 (GRCm39) |
N233T |
probably benign |
Het |
| Frem2 |
T |
A |
3: 53,492,922 (GRCm39) |
I1865F |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,427,739 (GRCm39) |
D352G |
probably benign |
Het |
| Klhdc1 |
A |
T |
12: 69,306,304 (GRCm39) |
H247L |
possibly damaging |
Het |
| L3mbtl4 |
A |
T |
17: 68,937,253 (GRCm39) |
T425S |
probably benign |
Het |
| Mrpl21 |
T |
C |
19: 3,336,890 (GRCm39) |
V87A |
probably damaging |
Het |
| Or4d11 |
A |
T |
19: 12,014,103 (GRCm39) |
M1K |
probably null |
Het |
| Or5ac21 |
T |
A |
16: 59,124,416 (GRCm39) |
L301Q |
probably damaging |
Het |
| Or6c215 |
G |
T |
10: 129,637,689 (GRCm39) |
A235D |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,827,505 (GRCm39) |
H29Q |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,587,692 (GRCm39) |
|
probably null |
Het |
| Pogk |
A |
G |
1: 166,231,078 (GRCm39) |
V83A |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,382,994 (GRCm39) |
E1556G |
possibly damaging |
Het |
| Tmem109 |
C |
A |
19: 10,849,395 (GRCm39) |
L153F |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,909,791 (GRCm39) |
T74A |
probably damaging |
Het |
| Zfp180 |
A |
T |
7: 23,805,521 (GRCm39) |
T647S |
probably damaging |
Het |
|
| Other mutations in Btbd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Btbd3
|
APN |
2 |
138,121,697 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01650:Btbd3
|
APN |
2 |
138,126,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01783:Btbd3
|
APN |
2 |
138,125,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03108:Btbd3
|
APN |
2 |
138,126,043 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03232:Btbd3
|
APN |
2 |
138,126,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03259:Btbd3
|
APN |
2 |
138,121,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03405:Btbd3
|
APN |
2 |
138,121,681 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0540:Btbd3
|
UTSW |
2 |
138,125,736 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0607:Btbd3
|
UTSW |
2 |
138,125,736 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1171:Btbd3
|
UTSW |
2 |
138,125,881 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1983:Btbd3
|
UTSW |
2 |
138,125,608 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2034:Btbd3
|
UTSW |
2 |
138,120,903 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5111:Btbd3
|
UTSW |
2 |
138,120,829 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
|
R6170:Btbd3
|
UTSW |
2 |
138,120,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6663:Btbd3
|
UTSW |
2 |
138,121,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7210:Btbd3
|
UTSW |
2 |
138,125,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Btbd3
|
UTSW |
2 |
138,126,055 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9001:Btbd3
|
UTSW |
2 |
138,122,296 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9008:Btbd3
|
UTSW |
2 |
138,125,453 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9801:Btbd3
|
UTSW |
2 |
138,122,368 (GRCm39) |
nonsense |
probably null |
|
|
Z1189:Btbd3
|
UTSW |
2 |
138,126,010 (GRCm39) |
small deletion |
probably benign |
|
|
Z1192:Btbd3
|
UTSW |
2 |
138,126,010 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTATGTTCTTGGACAGGCTTGAAAG -3'
(R):5'- GCATTCAGAGTTTCCCTGCG -3'
Sequencing Primer
(F):5'- GCAGTGGCTTCCTTCCTTG -3'
(R):5'- AGAGTTTCCCTGCGGAGGATAC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation