Incidental Mutation 'R2324:Lactb2'
| ID |
244830 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lactb2
|
| Ensembl Gene |
ENSMUSG00000025937 |
| Gene Name |
lactamase, beta 2 |
| Synonyms |
Cgi-83, E430032H21Rik |
| MMRRC Submission |
040315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R2324 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
13695069-13730749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13708520 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 176
(D176G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027071]
|
| AlphaFold |
Q99KR3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027071
AA Change: D176G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027071
Gene: ENSMUSG00000025937
AA Change: D176G
| Domain | Start | End | E-Value | Type |
|---|
|
Lactamase_B
|
30 |
199 |
6.69e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194537
|
| Meta Mutation Damage Score |
0.5466 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
| Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
| Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
| Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
| Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
| Nfic |
A |
G |
10: 81,241,921 (GRCm39) |
|
probably null |
Het |
| Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
| Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
| Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
| Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
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 |
|
IGL00595:Lactb2
|
APN |
1 |
13,700,350 (GRCm39) |
missense |
probably benign |
0.05 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTGTCCGCTAAAGTCTGC -3'
(R):5'- CGCAAGCGTAAGAATTCATGC -3'
Sequencing Primer
(F):5'- GTCCGCTAAAGTCTGCTATATAATAC -3'
(R):5'- GCAAGCGTAAGAATTCATGCTTGTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation