Incidental Mutation 'IGL00595:Lactb2'
| ID |
7531 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lactb2
|
| Ensembl Gene |
ENSMUSG00000025937 |
| Gene Name |
lactamase, beta 2 |
| Synonyms |
Cgi-83, E430032H21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL00595
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
13695069-13730749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13700350 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 227
(L227S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027071]
|
| AlphaFold |
Q99KR3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027071
AA Change: L227S
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027071
Gene: ENSMUSG00000025937
AA Change: L227S
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
30 |
199 |
6.69e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156222
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice homozygous for a null allele exhibit at 40 days of age preceeded by decreased body size, lethargy, enlarged and pale liver and hepatic steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
A |
10: 28,849,954 (GRCm39) |
R161* |
probably null |
Het |
| Adam20 |
T |
A |
8: 41,249,084 (GRCm39) |
F398Y |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,192,250 (GRCm39) |
I374F |
probably damaging |
Het |
| Apol10a |
A |
T |
15: 77,369,135 (GRCm39) |
N45Y |
probably null |
Het |
| Asnsd1 |
A |
G |
1: 53,386,647 (GRCm39) |
S327P |
probably damaging |
Het |
| Ccdc83 |
T |
A |
7: 89,893,252 (GRCm39) |
K168N |
probably damaging |
Het |
| Chmp1b2 |
A |
G |
X: 106,831,450 (GRCm39) |
S189P |
probably damaging |
Het |
| Dpysl4 |
G |
T |
7: 138,676,092 (GRCm39) |
V274F |
probably damaging |
Het |
| Fxr2 |
T |
G |
11: 69,540,018 (GRCm39) |
S292A |
probably benign |
Het |
| Gm15130 |
T |
A |
2: 110,969,322 (GRCm39) |
D132V |
unknown |
Het |
| Gpr161 |
A |
G |
1: 165,146,372 (GRCm39) |
H436R |
probably benign |
Het |
| Jaml |
C |
T |
9: 45,012,287 (GRCm39) |
|
probably benign |
Het |
| Kcnc2 |
A |
T |
10: 112,297,893 (GRCm39) |
S606C |
probably damaging |
Het |
| Kcnc2 |
G |
T |
10: 112,297,892 (GRCm39) |
E605D |
probably benign |
Het |
| Kcnrg |
T |
C |
14: 61,845,359 (GRCm39) |
I133T |
probably damaging |
Het |
| Kdm7a |
A |
G |
6: 39,121,444 (GRCm39) |
I837T |
probably benign |
Het |
| Lats1 |
T |
G |
10: 7,578,069 (GRCm39) |
S398A |
probably benign |
Het |
| Llgl2 |
T |
A |
11: 115,725,710 (GRCm39) |
D19E |
probably benign |
Het |
| Nup107 |
A |
T |
10: 117,609,257 (GRCm39) |
C365* |
probably null |
Het |
| Nup107 |
T |
C |
10: 117,609,273 (GRCm39) |
|
probably null |
Het |
| Plekhf2 |
T |
C |
4: 10,991,022 (GRCm39) |
K107E |
probably damaging |
Het |
| Rnf139 |
A |
T |
15: 58,770,391 (GRCm39) |
I139F |
possibly damaging |
Het |
| Rsbn1 |
A |
G |
3: 103,836,006 (GRCm39) |
N348S |
probably benign |
Het |
| Rttn |
A |
T |
18: 88,992,464 (GRCm39) |
Q136H |
probably benign |
Het |
| Syne2 |
C |
T |
12: 75,972,420 (GRCm39) |
T1052I |
possibly damaging |
Het |
| Tom1l1 |
A |
T |
11: 90,565,566 (GRCm39) |
L101Q |
probably damaging |
Het |
| Tubal3 |
A |
G |
13: 3,983,015 (GRCm39) |
N265S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,079 (GRCm39) |
N131S |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,186 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp961 |
G |
A |
8: 72,722,272 (GRCm39) |
A262T |
probably damaging |
Het |
|
| Other mutations in Lactb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Lactb2
|
APN |
1 |
13,730,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00730:Lactb2
|
APN |
1 |
13,717,740 (GRCm39) |
splice site |
probably benign |
|
|
R0371:Lactb2
|
UTSW |
1 |
13,720,984 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0782:Lactb2
|
UTSW |
1 |
13,717,675 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1670:Lactb2
|
UTSW |
1 |
13,730,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2324:Lactb2
|
UTSW |
1 |
13,708,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Lactb2
|
UTSW |
1 |
13,730,563 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3500:Lactb2
|
UTSW |
1 |
13,730,673 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R4345:Lactb2
|
UTSW |
1 |
13,730,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Lactb2
|
UTSW |
1 |
13,717,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4665:Lactb2
|
UTSW |
1 |
13,717,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Lactb2
|
UTSW |
1 |
13,708,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5363:Lactb2
|
UTSW |
1 |
13,700,356 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5658:Lactb2
|
UTSW |
1 |
13,697,642 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5734:Lactb2
|
UTSW |
1 |
13,730,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Lactb2
|
UTSW |
1 |
13,720,954 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6419:Lactb2
|
UTSW |
1 |
13,708,459 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-04-20 |
Incidental Mutation