Incidental Mutation 'IGL02470:BB014433'
| ID |
294701 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
BB014433
|
| Ensembl Gene |
ENSMUSG00000049008 |
| Gene Name |
expressed sequence BB014433 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
IGL02470
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
15091446-15096078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15092803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 17
(F17I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050493]
[ENSMUST00000123331]
[ENSMUST00000179941]
|
| AlphaFold |
Q8C5R5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000050493
AA Change: F17I
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123331
AA Change: F17I
|
| SMART Domains |
Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008
AA Change: F17I
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
27 |
51 |
1.93e-5 |
PROSPERO |
|
internal_repeat_2
|
31 |
59 |
5.9e-5 |
PROSPERO |
|
internal_repeat_2
|
85 |
113 |
5.9e-5 |
PROSPERO |
|
internal_repeat_1
|
95 |
117 |
1.93e-5 |
PROSPERO |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000179941
AA Change: F17I
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209549
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209938
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
| Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
| Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
| Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
| Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
| Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
| Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
| Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
| Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
| Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
| Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
| Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
| Ncstn |
A |
G |
1: 171,910,166 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
| Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
| Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
| Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
| Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
| Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
| Other mutations in BB014433 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:BB014433
|
APN |
8 |
15,092,510 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01595:BB014433
|
APN |
8 |
15,092,499 (GRCm39) |
splice site |
probably null |
|
|
IGL02056:BB014433
|
APN |
8 |
15,092,435 (GRCm39) |
nonsense |
probably null |
|
|
R0359:BB014433
|
UTSW |
8 |
15,092,540 (GRCm39) |
nonsense |
probably null |
|
|
R1066:BB014433
|
UTSW |
8 |
15,092,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:BB014433
|
UTSW |
8 |
15,092,629 (GRCm39) |
missense |
unknown |
|
|
R1838:BB014433
|
UTSW |
8 |
15,092,629 (GRCm39) |
missense |
unknown |
|
|
R2227:BB014433
|
UTSW |
8 |
15,091,717 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4508:BB014433
|
UTSW |
8 |
15,092,095 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4882:BB014433
|
UTSW |
8 |
15,092,016 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4996:BB014433
|
UTSW |
8 |
15,092,166 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5988:BB014433
|
UTSW |
8 |
15,091,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6051:BB014433
|
UTSW |
8 |
15,092,179 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6483:BB014433
|
UTSW |
8 |
15,092,208 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6505:BB014433
|
UTSW |
8 |
15,092,304 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7237:BB014433
|
UTSW |
8 |
15,091,765 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7771:BB014433
|
UTSW |
8 |
15,092,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7847:BB014433
|
UTSW |
8 |
15,092,160 (GRCm39) |
small deletion |
probably benign |
|
|
R7859:BB014433
|
UTSW |
8 |
15,092,160 (GRCm39) |
small deletion |
probably benign |
|
|
R8377:BB014433
|
UTSW |
8 |
15,092,160 (GRCm39) |
small deletion |
probably benign |
|
|
R8560:BB014433
|
UTSW |
8 |
15,092,160 (GRCm39) |
small deletion |
probably benign |
|
|
R8993:BB014433
|
UTSW |
8 |
15,092,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:BB014433
|
UTSW |
8 |
15,092,623 (GRCm39) |
missense |
unknown |
|
|
R9446:BB014433
|
UTSW |
8 |
15,091,810 (GRCm39) |
small deletion |
probably benign |
|
|
R9542:BB014433
|
UTSW |
8 |
15,092,160 (GRCm39) |
small deletion |
probably benign |
|
|
X0066:BB014433
|
UTSW |
8 |
15,092,833 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation