Incidental Mutation 'IGL00309:BB014433'
| ID |
332239 |
| 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 # |
IGL00309
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
15091446-15096078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 15092510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 114
(N114K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050493]
[ENSMUST00000123331]
[ENSMUST00000179941]
|
| AlphaFold |
Q8C5R5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050493
AA Change: N114K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123331
AA Change: N114K
|
| SMART Domains |
Protein: ENSMUSP00000116138
Gene: ENSMUSG00000049008
AA Change: N114K
| 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 benign
Transcript: ENSMUST00000179941
AA Change: N114K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
C |
4: 62,450,903 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
T |
A |
11: 110,051,342 (GRCm39) |
D118V |
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,912,598 (GRCm39) |
I1241N |
probably damaging |
Het |
| Arsb |
A |
G |
13: 93,926,608 (GRCm39) |
D126G |
probably benign |
Het |
| Ccne2 |
T |
A |
4: 11,199,322 (GRCm39) |
V241E |
probably benign |
Het |
| Ccnjl |
A |
T |
11: 43,474,023 (GRCm39) |
K199N |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,000,190 (GRCm39) |
T130A |
probably benign |
Het |
| Cyp2c70 |
A |
T |
19: 40,145,270 (GRCm39) |
N395K |
probably benign |
Het |
| Dst |
T |
C |
1: 34,199,733 (GRCm39) |
V67A |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,085,081 (GRCm39) |
R806H |
probably damaging |
Het |
| Extl3 |
G |
A |
14: 65,314,438 (GRCm39) |
P248L |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,784,555 (GRCm39) |
D205G |
probably damaging |
Het |
| Gga1 |
G |
T |
15: 78,767,555 (GRCm39) |
V98L |
possibly damaging |
Het |
| Gpr6 |
C |
T |
10: 40,946,812 (GRCm39) |
A257T |
probably damaging |
Het |
| Mex3c |
C |
T |
18: 73,722,960 (GRCm39) |
T351M |
probably damaging |
Het |
| Or10d4c |
T |
A |
9: 39,558,636 (GRCm39) |
S205T |
probably benign |
Het |
| Or10g3b |
A |
G |
14: 52,587,167 (GRCm39) |
V112A |
probably benign |
Het |
| Or5ar1 |
A |
T |
2: 85,671,706 (GRCm39) |
V143D |
probably benign |
Het |
| Or5g26 |
A |
T |
2: 85,494,700 (GRCm39) |
V26D |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,451,743 (GRCm39) |
Y412H |
probably damaging |
Het |
| Slc25a25 |
A |
T |
2: 32,309,172 (GRCm39) |
V75E |
probably benign |
Het |
| Sv2c |
A |
G |
13: 96,184,937 (GRCm39) |
C247R |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,728 (GRCm39) |
V403E |
probably benign |
Het |
| Wdr17 |
A |
G |
8: 55,140,746 (GRCm39) |
V202A |
probably damaging |
Het |
| Zscan25 |
A |
G |
5: 145,220,559 (GRCm39) |
E118G |
probably damaging |
Het |
|
| Other mutations in BB014433 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01595:BB014433
|
APN |
8 |
15,092,499 (GRCm39) |
splice site |
probably null |
|
|
IGL02056:BB014433
|
APN |
8 |
15,092,435 (GRCm39) |
nonsense |
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 |
2015-08-05 |
Incidental Mutation