Incidental Mutation 'R4396:Btbd7'
ID |
325498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd7
|
Ensembl Gene |
ENSMUSG00000041702 |
Gene Name |
BTB domain containing 7 |
Synonyms |
5730507E09Rik, FUP1, E130118E17Rik |
MMRRC Submission |
041129-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.470)
|
Stock # |
R4396 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
102747056-102844730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102751552 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1071
(S1071P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045652]
[ENSMUST00000223554]
|
AlphaFold |
Q8CFE5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045652
AA Change: S1071P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000046951 Gene: ENSMUSG00000041702 AA Change: S1071P
Domain | Start | End | E-Value | Type |
BTB
|
142 |
244 |
1.57e-13 |
SMART |
BTB
|
247 |
397 |
2.23e-4 |
SMART |
BACK
|
402 |
538 |
1.49e-4 |
SMART |
low complexity region
|
626 |
640 |
N/A |
INTRINSIC |
low complexity region
|
756 |
771 |
N/A |
INTRINSIC |
low complexity region
|
783 |
792 |
N/A |
INTRINSIC |
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
low complexity region
|
839 |
850 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1088 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223554
AA Change: S1071P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
Meta Mutation Damage Score |
0.0591 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
C |
7: 119,195,143 (GRCm39) |
F552L |
probably damaging |
Het |
Actn2 |
A |
G |
13: 12,325,765 (GRCm39) |
L70P |
probably damaging |
Het |
Cd200r1 |
T |
A |
16: 44,586,417 (GRCm39) |
W16R |
probably benign |
Het |
Cdhr2 |
A |
G |
13: 54,863,478 (GRCm39) |
N120D |
probably damaging |
Het |
Col19a1 |
T |
C |
1: 24,549,947 (GRCm39) |
T317A |
unknown |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dmbt1 |
T |
C |
7: 130,718,361 (GRCm39) |
L1683P |
probably damaging |
Het |
Dynll1 |
A |
T |
5: 115,438,700 (GRCm39) |
C2S |
probably benign |
Het |
Elp2 |
T |
A |
18: 24,742,707 (GRCm39) |
S80T |
probably damaging |
Het |
Fat1 |
T |
A |
8: 45,405,383 (GRCm39) |
N711K |
probably damaging |
Het |
Fzd3 |
A |
G |
14: 65,473,054 (GRCm39) |
I238T |
probably damaging |
Het |
Galnt7 |
A |
T |
8: 57,991,215 (GRCm39) |
F432I |
probably damaging |
Het |
Gemin5 |
T |
A |
11: 58,030,375 (GRCm39) |
T817S |
probably benign |
Het |
Gm5414 |
T |
G |
15: 101,534,101 (GRCm39) |
E294A |
probably damaging |
Het |
H2-T5 |
C |
A |
17: 36,472,861 (GRCm39) |
|
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Kcnj4 |
C |
A |
15: 79,368,874 (GRCm39) |
A369S |
probably benign |
Het |
Llgl1 |
T |
C |
11: 60,596,834 (GRCm39) |
V145A |
probably benign |
Het |
Mdga1 |
T |
C |
17: 30,069,491 (GRCm39) |
D185G |
probably damaging |
Het |
Mettl2 |
A |
G |
11: 105,017,604 (GRCm39) |
D38G |
probably damaging |
Het |
Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
Mpp4 |
T |
C |
1: 59,183,961 (GRCm39) |
I260V |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,651,220 (GRCm39) |
E1112G |
probably damaging |
Het |
Mtus2 |
T |
A |
5: 148,140,748 (GRCm39) |
N871K |
possibly damaging |
Het |
Mylk |
C |
T |
16: 34,732,645 (GRCm39) |
Q642* |
probably null |
Het |
Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
Or4f57 |
A |
G |
2: 111,790,560 (GRCm39) |
I286T |
probably damaging |
Het |
Pdzd2 |
A |
T |
15: 12,387,732 (GRCm39) |
D875E |
probably benign |
Het |
Piezo1 |
G |
T |
8: 123,225,413 (GRCm39) |
T557K |
probably damaging |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Plxnb1 |
T |
C |
9: 108,929,291 (GRCm39) |
V49A |
possibly damaging |
Het |
Pramel6 |
A |
T |
2: 87,338,874 (GRCm39) |
I25F |
probably damaging |
Het |
Rreb1 |
C |
T |
13: 38,114,419 (GRCm39) |
Q593* |
probably null |
Het |
Scn8a |
A |
G |
15: 100,870,711 (GRCm39) |
N254S |
probably damaging |
Het |
Scnn1g |
T |
G |
7: 121,339,650 (GRCm39) |
S150A |
probably benign |
Het |
Sec24a |
A |
G |
11: 51,605,991 (GRCm39) |
F686L |
possibly damaging |
Het |
Sirt1 |
T |
C |
10: 63,157,777 (GRCm39) |
T546A |
probably benign |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Traf5 |
A |
T |
1: 191,729,806 (GRCm39) |
V415E |
probably benign |
Het |
Traip |
C |
G |
9: 107,836,686 (GRCm39) |
T110S |
probably benign |
Het |
Treml2 |
T |
C |
17: 48,615,142 (GRCm39) |
V209A |
probably benign |
Het |
Trpv5 |
T |
C |
6: 41,634,830 (GRCm39) |
S500G |
probably benign |
Het |
Usp32 |
G |
A |
11: 84,944,801 (GRCm39) |
L296F |
probably benign |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,369 (GRCm39) |
D207G |
probably damaging |
Het |
|
Other mutations in Btbd7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02047:Btbd7
|
APN |
12 |
102,760,038 (GRCm39) |
missense |
probably benign |
0.10 |
IGL02899:Btbd7
|
APN |
12 |
102,803,921 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03204:Btbd7
|
APN |
12 |
102,774,239 (GRCm39) |
nonsense |
probably null |
|
H8562:Btbd7
|
UTSW |
12 |
102,754,561 (GRCm39) |
missense |
probably benign |
0.26 |
IGL03050:Btbd7
|
UTSW |
12 |
102,779,065 (GRCm39) |
missense |
probably benign |
0.03 |
R1262:Btbd7
|
UTSW |
12 |
102,754,210 (GRCm39) |
missense |
probably benign |
|
R1423:Btbd7
|
UTSW |
12 |
102,751,734 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1437:Btbd7
|
UTSW |
12 |
102,754,349 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1636:Btbd7
|
UTSW |
12 |
102,760,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R1641:Btbd7
|
UTSW |
12 |
102,757,034 (GRCm39) |
missense |
probably damaging |
1.00 |
R1722:Btbd7
|
UTSW |
12 |
102,778,913 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1921:Btbd7
|
UTSW |
12 |
102,760,055 (GRCm39) |
missense |
probably benign |
0.01 |
R2021:Btbd7
|
UTSW |
12 |
102,756,968 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Btbd7
|
UTSW |
12 |
102,752,156 (GRCm39) |
missense |
probably damaging |
1.00 |
R3768:Btbd7
|
UTSW |
12 |
102,761,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R3770:Btbd7
|
UTSW |
12 |
102,761,451 (GRCm39) |
missense |
probably damaging |
1.00 |
R3786:Btbd7
|
UTSW |
12 |
102,804,411 (GRCm39) |
missense |
probably benign |
0.22 |
R4809:Btbd7
|
UTSW |
12 |
102,760,003 (GRCm39) |
critical splice donor site |
probably null |
|
R4910:Btbd7
|
UTSW |
12 |
102,774,307 (GRCm39) |
missense |
probably damaging |
0.98 |
R4915:Btbd7
|
UTSW |
12 |
102,804,046 (GRCm39) |
nonsense |
probably null |
|
R5054:Btbd7
|
UTSW |
12 |
102,804,471 (GRCm39) |
missense |
probably benign |
0.02 |
R5276:Btbd7
|
UTSW |
12 |
102,804,651 (GRCm39) |
missense |
probably benign |
0.00 |
R5387:Btbd7
|
UTSW |
12 |
102,804,044 (GRCm39) |
missense |
probably damaging |
0.99 |
R5665:Btbd7
|
UTSW |
12 |
102,751,456 (GRCm39) |
missense |
probably benign |
|
R7083:Btbd7
|
UTSW |
12 |
102,754,594 (GRCm39) |
missense |
probably damaging |
0.99 |
R7354:Btbd7
|
UTSW |
12 |
102,804,464 (GRCm39) |
missense |
probably benign |
0.05 |
R7429:Btbd7
|
UTSW |
12 |
102,804,039 (GRCm39) |
missense |
probably damaging |
1.00 |
R7462:Btbd7
|
UTSW |
12 |
102,803,981 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7469:Btbd7
|
UTSW |
12 |
102,779,027 (GRCm39) |
missense |
probably damaging |
0.99 |
R7998:Btbd7
|
UTSW |
12 |
102,761,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R8499:Btbd7
|
UTSW |
12 |
102,754,631 (GRCm39) |
missense |
probably damaging |
1.00 |
R8773:Btbd7
|
UTSW |
12 |
102,804,241 (GRCm39) |
missense |
probably benign |
0.02 |
R8783:Btbd7
|
UTSW |
12 |
102,754,501 (GRCm39) |
missense |
probably benign |
0.45 |
R8968:Btbd7
|
UTSW |
12 |
102,779,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Btbd7
|
UTSW |
12 |
102,751,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R9027:Btbd7
|
UTSW |
12 |
102,804,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R9216:Btbd7
|
UTSW |
12 |
102,761,563 (GRCm39) |
missense |
probably damaging |
1.00 |
R9221:Btbd7
|
UTSW |
12 |
102,777,430 (GRCm39) |
missense |
probably damaging |
1.00 |
R9471:Btbd7
|
UTSW |
12 |
102,760,145 (GRCm39) |
missense |
probably damaging |
1.00 |
X0024:Btbd7
|
UTSW |
12 |
102,778,945 (GRCm39) |
nonsense |
probably null |
|
X0025:Btbd7
|
UTSW |
12 |
102,777,423 (GRCm39) |
missense |
probably benign |
0.06 |
Z1177:Btbd7
|
UTSW |
12 |
102,777,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGACTCGGAAGCTACTTCAG -3'
(R):5'- AAGACCCTAGGAGAGAGTACCC -3'
Sequencing Primer
(F):5'- TCGGAAGCTACTTCAGAGGGC -3'
(R):5'- TAGGAGAGAGTACCCACCGTCTC -3'
|
Posted On |
2015-07-06 |