Incidental Mutation 'IGL01821:Lactb'
| ID |
154544 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lactb
|
| Ensembl Gene |
ENSMUSG00000032370 |
| Gene Name |
lactamase, beta |
| Synonyms |
Mrpl56 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01821
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
66862668-66882706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 66878180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 216
(S216R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151155
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034929]
[ENSMUST00000215172]
|
| AlphaFold |
Q9EP89 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034929
AA Change: S216R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034929
Gene: ENSMUSG00000032370
AA Change: S216R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
transmembrane domain
|
32 |
54 |
N/A |
INTRINSIC |
|
Pfam:Beta-lactamase
|
110 |
253 |
1.4e-33 |
PFAM |
|
Pfam:Beta-lactamase
|
285 |
542 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215172
AA Change: S216R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrially-localized protein that has sequence similarity to prokaryotic beta-lactamases. Many of the residues responsible for beta-lactamase activity are not conserved in this protein, suggesting it may have a different enzymatic function. Increased expression of the related mouse gene was found to be associated with obesity. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Dec 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,917,142 (GRCm39) |
|
probably null |
Het |
| Ahnak |
A |
G |
19: 8,989,482 (GRCm39) |
I3589V |
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,471,031 (GRCm39) |
L56Q |
probably damaging |
Het |
| Camk2b |
C |
T |
11: 5,947,890 (GRCm39) |
D112N |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,771,699 (GRCm39) |
V664A |
probably benign |
Het |
| Gstm2 |
T |
C |
3: 107,892,369 (GRCm39) |
D119G |
possibly damaging |
Het |
| Hic2 |
T |
C |
16: 17,075,695 (GRCm39) |
F175L |
probably benign |
Het |
| Ifi214 |
T |
C |
1: 173,356,891 (GRCm39) |
I71V |
probably damaging |
Het |
| Igkv17-121 |
G |
A |
6: 68,013,848 (GRCm39) |
C16Y |
unknown |
Het |
| Inpp4a |
T |
C |
1: 37,416,798 (GRCm39) |
S435P |
probably damaging |
Het |
| Irgm1 |
A |
G |
11: 48,757,353 (GRCm39) |
S153P |
probably damaging |
Het |
| Nol7 |
A |
G |
13: 43,552,216 (GRCm39) |
K87R |
probably benign |
Het |
| Or9m2 |
T |
A |
2: 87,820,933 (GRCm39) |
H159Q |
probably benign |
Het |
| Patj |
G |
T |
4: 98,344,448 (GRCm39) |
G18W |
probably damaging |
Het |
| Pjvk |
G |
T |
2: 76,486,259 (GRCm39) |
G220C |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,819,219 (GRCm39) |
Y1071H |
probably damaging |
Het |
| Psmb8 |
C |
A |
17: 34,417,517 (GRCm39) |
Q49K |
probably benign |
Het |
| Rhcg |
C |
A |
7: 79,248,346 (GRCm39) |
L419F |
probably benign |
Het |
| Slc6a5 |
A |
G |
7: 49,564,601 (GRCm39) |
|
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 95,111,003 (GRCm39) |
D607G |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,914,710 (GRCm39) |
L2275F |
probably damaging |
Het |
| Thoc1 |
A |
G |
18: 9,993,429 (GRCm39) |
D596G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,835 (GRCm39) |
F205L |
probably damaging |
Het |
| Traf7 |
G |
A |
17: 24,729,473 (GRCm39) |
S446F |
probably damaging |
Het |
| Trnt1 |
G |
A |
6: 106,751,436 (GRCm39) |
V138I |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,564,148 (GRCm39) |
Q116L |
probably damaging |
Het |
| Wdr47 |
T |
C |
3: 108,534,520 (GRCm39) |
S480P |
probably damaging |
Het |
|
| Other mutations in Lactb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01418:Lactb
|
APN |
9 |
66,875,045 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0483:Lactb
|
UTSW |
9 |
66,878,145 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0523:Lactb
|
UTSW |
9 |
66,877,974 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0644:Lactb
|
UTSW |
9 |
66,863,172 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1395:Lactb
|
UTSW |
9 |
66,878,661 (GRCm39) |
splice site |
probably benign |
|
|
R1413:Lactb
|
UTSW |
9 |
66,878,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5059:Lactb
|
UTSW |
9 |
66,882,426 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5381:Lactb
|
UTSW |
9 |
66,863,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5704:Lactb
|
UTSW |
9 |
66,863,058 (GRCm39) |
nonsense |
probably null |
|
|
R6115:Lactb
|
UTSW |
9 |
66,874,969 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6415:Lactb
|
UTSW |
9 |
66,877,927 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6513:Lactb
|
UTSW |
9 |
66,878,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Lactb
|
UTSW |
9 |
66,863,182 (GRCm39) |
nonsense |
probably null |
|
|
R9057:Lactb
|
UTSW |
9 |
66,874,977 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9266:Lactb
|
UTSW |
9 |
66,878,499 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0023:Lactb
|
UTSW |
9 |
66,863,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0067:Lactb
|
UTSW |
9 |
66,875,007 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Y5406:Lactb
|
UTSW |
9 |
66,863,437 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation