Incidental Mutation 'R3770:Btbd7'
ID |
273234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Btbd7
|
Ensembl Gene |
ENSMUSG00000041702 |
Gene Name |
BTB domain containing 7 |
Synonyms |
5730507E09Rik, FUP1, E130118E17Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.496)
|
Stock # |
R3770 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
102747056-102844730 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 102761451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 578
(P578L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045652]
[ENSMUST00000223554]
|
AlphaFold |
Q8CFE5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045652
AA Change: P578L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046951 Gene: ENSMUSG00000041702 AA Change: P578L
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 damaging
Transcript: ENSMUST00000223554
AA Change: P578L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox1 |
T |
C |
11: 116,065,213 (GRCm39) |
D578G |
probably damaging |
Het |
Adgrb1 |
T |
A |
15: 74,460,157 (GRCm39) |
I543N |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 76,075,677 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
G |
7: 144,149,306 (GRCm39) |
Y852H |
probably damaging |
Het |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
Atp1a1 |
T |
C |
3: 101,488,510 (GRCm39) |
D842G |
probably benign |
Het |
Brd7 |
A |
T |
8: 89,066,035 (GRCm39) |
|
probably null |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,714,398 (GRCm39) |
M2660I |
unknown |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Exoc3l4 |
A |
G |
12: 111,391,989 (GRCm39) |
D410G |
probably benign |
Het |
Foxk2 |
CGGGGGG |
CGGGGGGGGG |
11: 121,151,317 (GRCm39) |
|
probably benign |
Het |
Herc2 |
A |
G |
7: 55,814,755 (GRCm39) |
I2703V |
probably benign |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Iqcg |
G |
A |
16: 32,870,378 (GRCm39) |
|
silent |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Krtap12-1 |
G |
T |
10: 77,556,729 (GRCm39) |
V91L |
probably benign |
Het |
Lipo5 |
G |
T |
19: 33,445,200 (GRCm39) |
T123N |
unknown |
Het |
Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
Map3k5 |
T |
A |
10: 19,900,765 (GRCm39) |
V313D |
probably damaging |
Het |
Mypn |
C |
A |
10: 62,961,486 (GRCm39) |
L1035F |
possibly damaging |
Het |
Neurl1a |
T |
C |
19: 47,228,328 (GRCm39) |
L58P |
probably damaging |
Het |
Or5aq1 |
C |
T |
2: 86,966,158 (GRCm39) |
C169Y |
probably damaging |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Ppm1h |
G |
T |
10: 122,740,027 (GRCm39) |
L367F |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rasal3 |
A |
T |
17: 32,611,125 (GRCm39) |
L912Q |
probably damaging |
Het |
Reln |
C |
T |
5: 22,153,564 (GRCm39) |
V2247M |
probably damaging |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,113,579 (GRCm39) |
R313W |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Scn11a |
T |
A |
9: 119,613,115 (GRCm39) |
D825V |
probably damaging |
Het |
Slc12a3 |
A |
G |
8: 95,079,668 (GRCm39) |
H832R |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
Sos1 |
A |
G |
17: 80,705,737 (GRCm39) |
V1278A |
probably damaging |
Het |
Sstr3 |
C |
A |
15: 78,424,577 (GRCm39) |
V57L |
probably damaging |
Het |
Tex2 |
T |
A |
11: 106,435,078 (GRCm39) |
R783W |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,078,190 (GRCm39) |
I901N |
probably benign |
Het |
Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
Trim41 |
T |
C |
11: 48,699,911 (GRCm39) |
E98G |
possibly damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,589,623 (GRCm39) |
N764K |
probably damaging |
Het |
Vmn2r81 |
A |
T |
10: 79,106,434 (GRCm39) |
I471F |
probably damaging |
Het |
Wdr25 |
G |
A |
12: 108,864,346 (GRCm39) |
V164M |
probably damaging |
Het |
Zdhhc13 |
T |
A |
7: 48,452,692 (GRCm39) |
L5M |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
probably benign |
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 |
R3786:Btbd7
|
UTSW |
12 |
102,804,411 (GRCm39) |
missense |
probably benign |
0.22 |
R4396:Btbd7
|
UTSW |
12 |
102,751,552 (GRCm39) |
missense |
probably benign |
0.00 |
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'- TGTAACAATCTGCAAGGCCAG -3'
(R):5'- GTATCGTAGTGCTGCATATATCTTG -3'
Sequencing Primer
(F):5'- CCAGGAGGTAAAATGCATCTTAAG -3'
(R):5'- GACATGCTTCCTACAGCA -3'
|
Posted On |
2015-03-25 |