Incidental Mutation 'R9768:Lta4h'
| ID |
733373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lta4h
|
| Ensembl Gene |
ENSMUSG00000015889 |
| Gene Name |
leukotriene A4 hydrolase |
| Synonyms |
LTA4 hydrodase |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9768 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
93289273-93320737 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 93308818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 373
(V373I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016033
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016033]
|
| AlphaFold |
P24527 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016033
AA Change: V373I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: V373I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
13 |
387 |
7.8e-80 |
PFAM |
|
Leuk-A4-hydro_C
|
464 |
608 |
2.01e-65 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene have grossly normal phenotypes. Inflammatory reactions are reduced as are some other immunological responses. [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 |
|---|
| 4930524B15Rik |
C |
A |
11: 31,915,770 (GRCm39) |
F37L |
probably benign |
Het |
| Akna |
T |
C |
4: 63,292,636 (GRCm39) |
E1091G |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,650,101 (GRCm39) |
T697A |
probably benign |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,414 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,165,244 (GRCm39) |
I511L |
probably benign |
Het |
| Clp1 |
A |
C |
2: 84,556,477 (GRCm39) |
M1R |
probably null |
Het |
| Csrnp1 |
A |
C |
9: 119,801,819 (GRCm39) |
D413E |
probably damaging |
Het |
| Gbp2 |
T |
C |
3: 142,341,055 (GRCm39) |
S479P |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,408,603 (GRCm39) |
S413P |
probably damaging |
Het |
| Klb |
G |
T |
5: 65,537,373 (GRCm39) |
R901L |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Map3k1 |
G |
T |
13: 111,904,630 (GRCm39) |
Q385K |
probably benign |
Het |
| Mapk8ip2 |
A |
T |
15: 89,343,160 (GRCm39) |
D634V |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,217 (GRCm39) |
E526G |
probably damaging |
Het |
| Nipal4 |
C |
T |
11: 46,041,473 (GRCm39) |
V241M |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,227,045 (GRCm39) |
V1206E |
probably damaging |
Het |
| Pak6 |
A |
G |
2: 118,520,396 (GRCm39) |
Y129C |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,166,332 (GRCm39) |
K125N |
probably damaging |
Het |
| Pmm1 |
G |
A |
15: 81,840,460 (GRCm39) |
T95M |
possibly damaging |
Het |
| Prrt3 |
A |
T |
6: 113,474,032 (GRCm39) |
N335K |
probably damaging |
Het |
| Rsrc2 |
T |
C |
5: 123,868,561 (GRCm39) |
N361S |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,722,982 (GRCm39) |
T301A |
probably benign |
Het |
| Spata19 |
A |
C |
9: 27,311,744 (GRCm39) |
D121A |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,395,617 (GRCm39) |
L1796* |
probably null |
Het |
| Stx2 |
A |
G |
5: 129,063,422 (GRCm39) |
S288P |
unknown |
Het |
| Tlk1 |
C |
T |
2: 70,600,400 (GRCm39) |
S93N |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,676,029 (GRCm39) |
D256G |
probably damaging |
Het |
| Vldlr |
T |
C |
19: 27,218,720 (GRCm39) |
Y524H |
possibly damaging |
Het |
| Vmn1r168 |
T |
C |
7: 23,240,509 (GRCm39) |
F122S |
probably benign |
Het |
| Vmn2r67 |
T |
C |
7: 84,802,037 (GRCm39) |
N88S |
probably benign |
Het |
| Zhx1 |
A |
G |
15: 57,918,207 (GRCm39) |
V13A |
probably damaging |
Het |
|
| Other mutations in Lta4h |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01946:Lta4h
|
APN |
10 |
93,307,232 (GRCm39) |
splice site |
probably benign |
|
|
IGL02309:Lta4h
|
APN |
10 |
93,310,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Lta4h
|
APN |
10 |
93,314,329 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02358:Lta4h
|
APN |
10 |
93,314,329 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02589:Lta4h
|
APN |
10 |
93,310,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02649:Lta4h
|
APN |
10 |
93,308,831 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03164:Lta4h
|
APN |
10 |
93,306,659 (GRCm39) |
splice site |
probably benign |
|
|
R0498:Lta4h
|
UTSW |
10 |
93,307,833 (GRCm39) |
splice site |
probably benign |
|
|
R1451:Lta4h
|
UTSW |
10 |
93,316,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1690:Lta4h
|
UTSW |
10 |
93,320,554 (GRCm39) |
missense |
probably benign |
|
|
R1837:Lta4h
|
UTSW |
10 |
93,305,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4202:Lta4h
|
UTSW |
10 |
93,306,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Lta4h
|
UTSW |
10 |
93,304,678 (GRCm39) |
missense |
probably benign |
|
|
R5528:Lta4h
|
UTSW |
10 |
93,307,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5637:Lta4h
|
UTSW |
10 |
93,304,731 (GRCm39) |
splice site |
probably null |
|
|
R5873:Lta4h
|
UTSW |
10 |
93,305,052 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6965:Lta4h
|
UTSW |
10 |
93,307,759 (GRCm39) |
nonsense |
probably null |
|
|
R7282:Lta4h
|
UTSW |
10 |
93,289,373 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R7779:Lta4h
|
UTSW |
10 |
93,310,811 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8045:Lta4h
|
UTSW |
10 |
93,304,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8281:Lta4h
|
UTSW |
10 |
93,289,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8306:Lta4h
|
UTSW |
10 |
93,318,126 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8990:Lta4h
|
UTSW |
10 |
93,314,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9042:Lta4h
|
UTSW |
10 |
93,318,850 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9090:Lta4h
|
UTSW |
10 |
93,310,412 (GRCm39) |
missense |
probably benign |
|
|
R9271:Lta4h
|
UTSW |
10 |
93,310,412 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTACGTTGAAGGTTTAGAAGCC -3'
(R):5'- ACAGCAATAGACGTCTCTAGCAG -3'
Sequencing Primer
(F):5'- GCCTGAGTGAAACAGAGCCTC -3'
(R):5'- TAGACGTCTCTAGCAGAATGAAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation