Incidental Mutation 'IGL02056:BB014433'
| ID |
185231 |
| 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: 0.060)
|
| Stock # |
IGL02056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
15091446-15096078 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 15092435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 139
(C139*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050493]
[ENSMUST00000123331]
[ENSMUST00000179941]
|
| AlphaFold |
Q8C5R5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050493
AA Change: C139*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123331
|
| SMART Domains |
Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008
| 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 |
probably null
Transcript: ENSMUST00000179941
AA Change: C139*
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg101 |
T |
C |
15: 101,188,218 (GRCm39) |
S108P |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,046,738 (GRCm39) |
N1808S |
probably benign |
Het |
| Ccdc148 |
A |
G |
2: 58,894,081 (GRCm39) |
|
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,543,501 (GRCm39) |
N2223T |
probably benign |
Het |
| Fgl2 |
T |
A |
5: 21,580,543 (GRCm39) |
I295K |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,442,954 (GRCm39) |
I126T |
probably damaging |
Het |
| Gm4540 |
T |
A |
3: 105,942,056 (GRCm39) |
|
probably benign |
Het |
| Hps5 |
T |
G |
7: 46,437,606 (GRCm39) |
K156N |
probably damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,449 (GRCm39) |
|
probably benign |
Het |
| Il12rb1 |
C |
T |
8: 71,263,831 (GRCm39) |
R131* |
probably null |
Het |
| Itgb2l |
T |
C |
16: 96,228,889 (GRCm39) |
E438G |
probably damaging |
Het |
| Kplce |
T |
A |
3: 92,776,200 (GRCm39) |
Q161L |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,456,392 (GRCm39) |
L2379Q |
probably benign |
Het |
| Neurl4 |
T |
C |
11: 69,796,616 (GRCm39) |
V481A |
probably damaging |
Het |
| Nos1ap |
A |
G |
1: 170,146,192 (GRCm39) |
F454S |
possibly damaging |
Het |
| Pik3r5 |
G |
T |
11: 68,381,681 (GRCm39) |
G242C |
possibly damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,010 (GRCm39) |
N834S |
probably benign |
Het |
| Prkar2b |
A |
G |
12: 32,025,909 (GRCm39) |
|
probably benign |
Het |
| Pusl1 |
T |
C |
4: 155,975,029 (GRCm39) |
T191A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,126,831 (GRCm39) |
V51A |
probably damaging |
Het |
| Rsc1a1 |
T |
A |
4: 141,412,796 (GRCm39) |
I39F |
probably benign |
Het |
| Slc2a3 |
G |
A |
6: 122,712,437 (GRCm39) |
P269L |
probably damaging |
Het |
| Sntb1 |
C |
T |
15: 55,511,435 (GRCm39) |
G383D |
possibly damaging |
Het |
| Washc5 |
T |
C |
15: 59,222,185 (GRCm39) |
T547A |
possibly damaging |
Het |
| Zfr |
T |
C |
15: 12,154,533 (GRCm39) |
V572A |
probably damaging |
Het |
| Zmym6 |
T |
A |
4: 126,997,207 (GRCm39) |
N275K |
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 |
|
|
IGL02470:BB014433
|
APN |
8 |
15,092,803 (GRCm39) |
missense |
unknown |
|
|
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 |
2014-05-07 |
Incidental Mutation