Mutagenetix > Incidental Mutation

Incidental Mutation 'R8281:Lta4h'

638210

Institutional Source

Beutler Lab

Gene Symbol

Lta4h

Ensembl Gene

ENSMUSG00000015889

Gene Name

leukotriene A4 hydrolase

Synonyms

LTA4 hydrodase

MMRRC Submission

067704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93289273-93320737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93289456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 29 (D29Y)

Ref Sequence

ENSEMBL: ENSMUSP00000016033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016033]

AlphaFold

P24527

Predicted Effect

probably damaging
Transcript: ENSMUST00000016033
AA Change: D29Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: D29Y

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

Meta Mutation Damage Score

0.6486

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (44/45)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	G	A	14: 68,745,334 (GRCm39)	T630I	possibly damaging	Het
Adgrf3	T	C	5: 30,402,301 (GRCm39)	S576G	possibly damaging	Het
Asxl1	A	G	2: 153,241,321 (GRCm39)	R625G	probably damaging	Het
Atp1a1	A	G	3: 101,486,940 (GRCm39)	F916L	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Ccdc168	T	G	1: 44,095,698 (GRCm39)	D1800A	possibly damaging	Het
Chd9	A	G	8: 91,763,225 (GRCm39)	D2350G	probably damaging	Het
Cic	G	A	7: 24,971,249 (GRCm39)	V327I	probably benign	Het
Crym	T	A	7: 119,801,250 (GRCm39)		probably benign	Het
Cyp3a13	G	C	5: 137,892,559 (GRCm39)	S495C	probably benign	Het
D5Ertd579e	A	T	5: 36,770,664 (GRCm39)	F137I		Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Drc7	G	A	8: 95,788,805 (GRCm39)	E288K	possibly damaging	Het
Epb41l4a	T	C	18: 34,011,998 (GRCm39)	E174G	probably damaging	Het
Ern2	T	C	7: 121,769,483 (GRCm39)	R848G	probably damaging	Het
F13b	G	T	1: 139,438,689 (GRCm39)	R364S	probably benign	Het
F2rl1	A	G	13: 95,650,585 (GRCm39)	L99P	probably damaging	Het
Fam193a	C	A	5: 34,600,780 (GRCm39)	N171K	unknown	Het
Fst	A	G	13: 114,591,777 (GRCm39)	S201P	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm8232	A	G	14: 44,674,548 (GRCm39)	I182V		Het
Iqca1l	T	A	5: 24,754,008 (GRCm39)	H417L	probably benign	Het
Kalrn	C	T	16: 33,855,431 (GRCm39)	W1956*	probably null	Het
Klk1b16	A	G	7: 43,790,971 (GRCm39)	M258V	probably benign	Het
Marchf7	C	T	2: 60,064,873 (GRCm39)	S383L	probably benign	Het
Mob3c	T	C	4: 115,688,635 (GRCm39)	I56T	probably benign	Het
Msl2	T	C	9: 100,978,894 (GRCm39)	S423P	probably benign	Het
Otop3	T	C	11: 115,235,901 (GRCm39)	I511T	possibly damaging	Het
Pbld2	T	G	10: 62,883,805 (GRCm39)	L90R	probably damaging	Het
Pcdh8	A	G	14: 80,006,919 (GRCm39)	V548A	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch2	T	A	4: 155,091,430 (GRCm39)	M228L	probably benign	Het
Prkdc	T	C	16: 15,523,117 (GRCm39)	C1180R	probably damaging	Het
Rasl2-9	A	T	7: 5,128,351 (GRCm39)	L193*	probably null	Het
Rbp3	A	G	14: 33,678,320 (GRCm39)	K756R	probably benign	Het
Rp1	T	C	1: 4,418,139 (GRCm39)	E991G	probably damaging	Het
Slc12a7	G	A	13: 73,938,796 (GRCm39)	R191H	probably damaging	Het
Spaca6	A	G	17: 18,052,321 (GRCm39)	N87S	possibly damaging	Het
Spata31e5	C	T	1: 28,817,225 (GRCm39)	C269Y	possibly damaging	Het
Speer1h	T	A	5: 11,647,646 (GRCm39)	M128K	probably damaging	Het
Stab2	A	T	10: 86,709,728 (GRCm39)	V1639E	probably damaging	Het
Thpo	T	C	16: 20,544,525 (GRCm39)	N235S	possibly damaging	Het
Tmem63b	T	A	17: 45,971,722 (GRCm39)	H831L	probably benign	Het
Tomm20l	T	C	12: 71,158,241 (GRCm39)	V8A	probably benign	Het
Trav13-5	A	G	14: 54,032,918 (GRCm39)	R3G	possibly damaging	Het
Vill	T	C	9: 118,887,547 (GRCm39)	S104P	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
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
R9768:Lta4h	UTSW	10	93,308,818 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTCTAGCGCTAGCCTGATC -3'
(R):5'- TGCTGATGTAAAAGTGGGGC -3'

Sequencing Primer
(F):5'- TGATCGCGCTGCATCATG -3'
(R):5'- CTGATGTAAAAGTGGGGCTGAGAAAG -3'

Posted On

2020-07-28