Incidental Mutation 'R0644:Lactb'
| ID |
57006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lactb
|
| Ensembl Gene |
ENSMUSG00000032370 |
| Gene Name |
lactamase, beta |
| Synonyms |
Mrpl56 |
| MMRRC Submission |
038829-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0644 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
66862668-66882706 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66863172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 481
(R481G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034929]
[ENSMUST00000215172]
|
| AlphaFold |
Q9EP89 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034929
AA Change: R481G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034929
Gene: ENSMUSG00000032370
AA Change: R481G
| 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 benign
Transcript: ENSMUST00000215172
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
A |
T |
9: 44,185,996 (GRCm39) |
I625N |
possibly damaging |
Het |
| Accs |
A |
G |
2: 93,669,574 (GRCm39) |
L282P |
probably damaging |
Het |
| Acsbg1 |
T |
A |
9: 54,517,110 (GRCm39) |
I568F |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp5po |
A |
T |
16: 91,723,372 (GRCm39) |
V73E |
probably damaging |
Het |
| Bcl9 |
T |
C |
3: 97,117,813 (GRCm39) |
S294G |
probably benign |
Het |
| C2cd5 |
A |
T |
6: 142,958,950 (GRCm39) |
M1003K |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,825,523 (GRCm39) |
|
probably null |
Het |
| Dera |
A |
T |
6: 137,760,046 (GRCm39) |
T165S |
probably benign |
Het |
| Elf2 |
C |
T |
3: 51,215,552 (GRCm39) |
V53M |
probably damaging |
Het |
| Entpd5 |
A |
T |
12: 84,432,915 (GRCm39) |
F212L |
probably benign |
Het |
| Fndc3c1 |
T |
A |
X: 105,478,568 (GRCm39) |
T761S |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,241 (GRCm39) |
T1187A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,187,533 (GRCm39) |
S95P |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,122 (GRCm39) |
|
probably null |
Het |
| Impdh2 |
G |
T |
9: 108,440,836 (GRCm39) |
V112L |
possibly damaging |
Het |
| Kbtbd3 |
A |
T |
9: 4,329,868 (GRCm39) |
M81L |
probably damaging |
Het |
| Nacad |
C |
T |
11: 6,549,486 (GRCm39) |
C1235Y |
possibly damaging |
Het |
| Or5d37 |
T |
A |
2: 87,923,633 (GRCm39) |
M216L |
probably benign |
Het |
| Or5h26 |
G |
A |
16: 58,987,979 (GRCm39) |
H176Y |
probably damaging |
Het |
| Osbpl6 |
C |
T |
2: 76,425,184 (GRCm39) |
R878C |
probably damaging |
Het |
| Polr3a |
G |
A |
14: 24,534,232 (GRCm39) |
P91L |
probably damaging |
Het |
| Rab27a |
T |
A |
9: 73,002,705 (GRCm39) |
S211R |
probably benign |
Het |
| Scn9a |
C |
T |
2: 66,363,405 (GRCm39) |
|
probably null |
Het |
| Shank2 |
T |
C |
7: 143,965,586 (GRCm39) |
S1065P |
probably benign |
Het |
| Tent5d |
T |
C |
X: 106,914,251 (GRCm39) |
F111S |
probably damaging |
Het |
| Tgm4 |
A |
T |
9: 122,880,523 (GRCm39) |
D308V |
probably damaging |
Het |
| Vps26c |
A |
G |
16: 94,303,054 (GRCm39) |
L182P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,259,056 (GRCm39) |
I412T |
possibly damaging |
Het |
| Zfp831 |
T |
C |
2: 174,487,656 (GRCm39) |
V777A |
probably benign |
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 |
|
IGL01821:Lactb
|
APN |
9 |
66,878,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGAGCGATCTTCAAAGCAGTG -3'
(R):5'- TTTCTGTCCACAGTGGGTGACCTC -3'
Sequencing Primer
(F):5'- CTTCAAAGCAGTGCTATTGAGCC -3'
(R):5'- GGTGACCTCCTGAAATTTGGAAAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation