Incidental Mutation 'R8499:Btbd7'
| ID |
658431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Btbd7
|
| Ensembl Gene |
ENSMUSG00000041702 |
| Gene Name |
BTB domain containing 7 |
| Synonyms |
5730507E09Rik, FUP1, E130118E17Rik |
| MMRRC Submission |
067941-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.496)
|
| Stock # |
R8499 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
102747056-102844730 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102754631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 712
(F712I)
|
| 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: F712I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000046951
Gene: ENSMUSG00000041702
AA Change: F712I
| 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: F712I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.0746 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,189 (GRCm39) |
D485G |
probably damaging |
Het |
| Ap4b1 |
G |
A |
3: 103,728,018 (GRCm39) |
R344Q |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,410,280 (GRCm39) |
P222Q |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,869,796 (GRCm39) |
L272P |
probably damaging |
Het |
| Atp11b |
G |
T |
3: 35,864,854 (GRCm39) |
R559I |
probably benign |
Het |
| Bhmt |
T |
A |
13: 93,756,600 (GRCm39) |
I343F |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,222,070 (GRCm39) |
L455P |
probably benign |
Het |
| Cast |
A |
T |
13: 74,946,835 (GRCm39) |
H26Q |
probably benign |
Het |
| Clcn1 |
A |
G |
6: 42,284,133 (GRCm39) |
N567S |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,225,176 (GRCm39) |
W506R |
probably damaging |
Het |
| Dynap |
T |
A |
18: 70,374,044 (GRCm39) |
I161L |
unknown |
Het |
| Eif4g3 |
A |
C |
4: 137,893,239 (GRCm39) |
T996P |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,623,849 (GRCm39) |
Y173H |
probably benign |
Het |
| Fbll1 |
C |
T |
11: 35,688,907 (GRCm39) |
V119M |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,214,068 (GRCm39) |
F249L |
probably benign |
Het |
| Fxyd1 |
C |
A |
7: 30,752,529 (GRCm39) |
|
probably benign |
Het |
| Grhl3 |
C |
A |
4: 135,276,549 (GRCm39) |
|
probably null |
Het |
| Grk4 |
A |
G |
5: 34,902,690 (GRCm39) |
E414G |
possibly damaging |
Het |
| H2bc8 |
T |
A |
13: 23,755,880 (GRCm39) |
S92T |
probably benign |
Het |
| H2-Q5 |
A |
G |
17: 35,613,820 (GRCm39) |
D123G |
|
Het |
| H2-Q5 |
C |
T |
17: 35,613,945 (GRCm39) |
R165* |
probably null |
Het |
| Hgf |
A |
T |
5: 16,771,854 (GRCm39) |
E160D |
probably damaging |
Het |
| Ifi211 |
T |
C |
1: 173,733,086 (GRCm39) |
I192V |
probably benign |
Het |
| Klk1b22 |
T |
C |
7: 43,762,144 (GRCm39) |
F7L |
probably benign |
Het |
| Lcmt1 |
C |
A |
7: 123,029,371 (GRCm39) |
T331N |
probably benign |
Het |
| Lrrc36 |
A |
T |
8: 106,176,168 (GRCm39) |
T181S |
possibly damaging |
Het |
| Ltbp3 |
T |
A |
19: 5,798,712 (GRCm39) |
S520T |
probably benign |
Het |
| Nacc1 |
A |
T |
8: 85,403,345 (GRCm39) |
C177S |
probably damaging |
Het |
| Nedd4l |
T |
A |
18: 65,342,728 (GRCm39) |
V888E |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,753,405 (GRCm39) |
G305S |
probably damaging |
Het |
| Or51a25 |
A |
G |
7: 102,372,932 (GRCm39) |
V255A |
probably damaging |
Het |
| Or52i2 |
T |
A |
7: 102,320,012 (GRCm39) |
I295N |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,764,092 (GRCm39) |
D473V |
probably damaging |
Het |
| Pou2f2 |
C |
A |
7: 24,799,623 (GRCm39) |
G117C |
probably damaging |
Het |
| Prkci |
A |
G |
3: 31,079,366 (GRCm39) |
H68R |
probably damaging |
Het |
| Pygm |
A |
G |
19: 6,440,392 (GRCm39) |
K479E |
probably damaging |
Het |
| Qpct |
A |
G |
17: 79,384,996 (GRCm39) |
D212G |
probably damaging |
Het |
| Sh3glb2 |
A |
T |
2: 30,249,216 (GRCm39) |
M1K |
probably null |
Het |
| Slc22a5 |
A |
G |
11: 53,758,469 (GRCm39) |
S444P |
probably damaging |
Het |
| Snai3 |
G |
A |
8: 123,183,144 (GRCm39) |
H134Y |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,736,044 (GRCm39) |
D395G |
probably damaging |
Het |
| Tmem63c |
C |
T |
12: 87,119,738 (GRCm39) |
T344I |
probably damaging |
Het |
| Tnfsf14 |
A |
G |
17: 57,497,534 (GRCm39) |
Y233H |
|
Het |
| Ttn |
A |
G |
2: 76,749,335 (GRCm39) |
F3905L |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Vmn1r59 |
C |
T |
7: 5,457,750 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,700 (GRCm39) |
C707S |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,841,466 (GRCm39) |
S2499P |
probably damaging |
Het |
| Ythdf3 |
A |
G |
3: 16,259,179 (GRCm39) |
E442G |
possibly damaging |
Het |
| Zfp1001 |
T |
C |
2: 150,204,907 (GRCm39) |
S74P |
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 |
|
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 |
|
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'- GGAGCTGTTCTGCAGTGAAAC -3'
(R):5'- AATTAGAGACCAGCCTGTGC -3'
Sequencing Primer
(F):5'- CTGTTCTGCAGTGAAACAGTGAATG -3'
(R):5'- CTGTGCTATCAGGGGAAAAAGAAAAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation