Incidental Mutation 'IGL01815:Ighv1-53'
| ID |
154367 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ighv1-53
|
| Ensembl Gene |
ENSMUSG00000093894 |
| Gene Name |
immunoglobulin heavy variable 1-53 |
| Synonyms |
V23-D-J-C mu, AB069917 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL01815
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
115122065-115122455 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115122217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 53
(M53L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103523]
|
| AlphaFold |
A0A075B5W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103523
AA Change: M53L
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000100304
Gene: ENSMUSG00000093894
AA Change: M53L
| Domain | Start | End | E-Value | Type |
|---|
|
IGv
|
36 |
117 |
3.52e-31 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
A |
G |
4: 155,986,644 (GRCm39) |
E324G |
probably damaging |
Het |
| Arhgap20 |
T |
A |
9: 51,757,468 (GRCm39) |
Y487N |
probably damaging |
Het |
| Babam2 |
C |
T |
5: 31,859,442 (GRCm39) |
A3V |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 38,942,922 (GRCm39) |
L605P |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,284,239 (GRCm39) |
H1020R |
probably benign |
Het |
| Lepr |
A |
T |
4: 101,671,987 (GRCm39) |
I1004F |
possibly damaging |
Het |
| Limd1 |
T |
C |
9: 123,308,801 (GRCm39) |
S167P |
probably benign |
Het |
| Lrrc10b |
T |
C |
19: 10,434,117 (GRCm39) |
D188G |
probably damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,863 (GRCm39) |
L450P |
probably benign |
Het |
| Or56b1 |
T |
A |
7: 104,285,552 (GRCm39) |
Y224N |
probably damaging |
Het |
| Or5b104 |
A |
T |
19: 13,073,020 (GRCm39) |
|
probably null |
Het |
| Or7e165 |
A |
G |
9: 19,695,311 (GRCm39) |
N294S |
probably damaging |
Het |
| Or7g21 |
G |
T |
9: 19,032,622 (GRCm39) |
D121Y |
probably damaging |
Het |
| P2ry13 |
T |
C |
3: 59,117,121 (GRCm39) |
N219S |
probably benign |
Het |
| Pcnx1 |
A |
G |
12: 82,037,325 (GRCm39) |
D1861G |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,666,491 (GRCm39) |
I1007V |
probably benign |
Het |
| Ppp2r1a |
A |
G |
17: 21,177,094 (GRCm39) |
N211D |
probably benign |
Het |
| Psmd5 |
A |
T |
2: 34,742,783 (GRCm39) |
F440L |
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,310,167 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,528,460 (GRCm39) |
T2172A |
probably benign |
Het |
| Vwa8 |
C |
T |
14: 79,435,717 (GRCm39) |
T1809M |
possibly damaging |
Het |
| Wdr70 |
C |
T |
15: 7,916,805 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ighv1-53 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02326:Ighv1-53
|
APN |
12 |
115,122,235 (GRCm39) |
missense |
probably benign |
0.21 |
|
BB010:Ighv1-53
|
UTSW |
12 |
115,122,029 (GRCm39) |
nonsense |
probably null |
|
|
BB020:Ighv1-53
|
UTSW |
12 |
115,122,029 (GRCm39) |
nonsense |
probably null |
|
|
R3404:Ighv1-53
|
UTSW |
12 |
115,122,058 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4020:Ighv1-53
|
UTSW |
12 |
115,122,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4169:Ighv1-53
|
UTSW |
12 |
115,122,166 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4241:Ighv1-53
|
UTSW |
12 |
115,122,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5231:Ighv1-53
|
UTSW |
12 |
115,122,225 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7139:Ighv1-53
|
UTSW |
12 |
115,122,441 (GRCm39) |
nonsense |
probably null |
|
|
R7220:Ighv1-53
|
UTSW |
12 |
115,122,135 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7293:Ighv1-53
|
UTSW |
12 |
115,122,441 (GRCm39) |
nonsense |
probably null |
|
|
R7933:Ighv1-53
|
UTSW |
12 |
115,122,029 (GRCm39) |
nonsense |
probably null |
|
|
R7934:Ighv1-53
|
UTSW |
12 |
115,122,236 (GRCm39) |
nonsense |
probably null |
|
|
R8846:Ighv1-53
|
UTSW |
12 |
115,122,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9707:Ighv1-53
|
UTSW |
12 |
115,122,035 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation