Incidental Mutation 'IGL03204:Btbd7'
| ID |
413084 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL03204
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
102747056-102844730 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 102774239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 510
(R510*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045652]
[ENSMUST00000223554]
|
| AlphaFold |
Q8CFE5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000045652
AA Change: R510*
|
| SMART Domains |
Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: R510*
| 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 |
noncoding transcript
Transcript: ENSMUST00000220596
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221925
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223554
AA Change: R510*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14a |
A |
T |
9: 106,317,834 (GRCm39) |
F191I |
probably damaging |
Het |
| Actc1 |
A |
T |
2: 113,880,011 (GRCm39) |
S201T |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,534,023 (GRCm39) |
D291E |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,105,083 (GRCm39) |
|
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,644,436 (GRCm38) |
I80T |
possibly damaging |
Het |
| Eif4a3 |
A |
T |
11: 119,184,442 (GRCm39) |
D249E |
possibly damaging |
Het |
| Elovl6 |
A |
G |
3: 129,426,993 (GRCm39) |
M220V |
probably benign |
Het |
| Ets1 |
C |
T |
9: 32,644,308 (GRCm39) |
S156L |
possibly damaging |
Het |
| Gja8 |
C |
T |
3: 96,827,408 (GRCm39) |
V85I |
probably damaging |
Het |
| Glipr2 |
T |
A |
4: 43,970,507 (GRCm39) |
D7E |
probably benign |
Het |
| Il22 |
C |
T |
10: 118,041,085 (GRCm39) |
|
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,358,172 (GRCm39) |
V80A |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,133,042 (GRCm39) |
C79S |
possibly damaging |
Het |
| Kif26a |
A |
T |
12: 112,141,213 (GRCm39) |
H672L |
probably damaging |
Het |
| Klhl40 |
A |
T |
9: 121,611,696 (GRCm39) |
T570S |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,249,070 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
T |
A |
3: 104,013,151 (GRCm39) |
N112I |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,864,239 (GRCm39) |
T64A |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,141,122 (GRCm39) |
V728A |
possibly damaging |
Het |
| Or8u10 |
G |
T |
2: 85,916,015 (GRCm39) |
Y35* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,587,665 (GRCm39) |
I2517V |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
| Smg9 |
A |
G |
7: 24,120,337 (GRCm39) |
E437G |
probably benign |
Het |
| Snx4 |
A |
G |
16: 33,090,039 (GRCm39) |
K188R |
probably benign |
Het |
| Sox14 |
A |
G |
9: 99,757,110 (GRCm39) |
S210P |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,194,434 (GRCm39) |
F77L |
probably benign |
Het |
| Spata18 |
G |
T |
5: 73,828,449 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,212,002 (GRCm39) |
H356R |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,080,785 (GRCm39) |
D1380G |
possibly 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation