Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02649:Lta4h'

302074

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lta4h

Ensembl Gene

ENSMUSG00000015889

Gene Name

leukotriene A4 hydrolase

Synonyms

LTA4 hydrodase

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02649

Quality Score

Status

Chromosome

Chromosomal Location

93289273-93320737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93308831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 377 (V377A)

Ref Sequence

ENSEMBL: ENSMUSP00000016033 (fasta)

Gene Model

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

AlphaFold

P24527

Predicted Effect

probably benign
Transcript: ENSMUST00000016033
AA Change: V377A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: V377A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216931

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	T	11: 116,486,472 (GRCm39)	I4F	probably benign	Het
Adamts17	T	G	7: 66,499,626 (GRCm39)		probably benign	Het
Adcy1	A	T	11: 7,117,156 (GRCm39)	M1008L	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrnl1	T	G	19: 57,638,873 (GRCm39)		probably benign	Het
Brd3	T	A	2: 27,344,362 (GRCm39)	E456V	probably damaging	Het
Cabin1	A	T	10: 75,573,252 (GRCm39)	L712H	probably damaging	Het
Ccna1	T	A	3: 54,961,807 (GRCm39)	T38S	probably damaging	Het
Chadl	T	A	15: 81,580,059 (GRCm39)	I59F	probably benign	Het
Chmp3	T	C	6: 71,529,417 (GRCm39)	M27T	possibly damaging	Het
Clcn1	C	T	6: 42,275,763 (GRCm39)	T295I	probably damaging	Het
Col6a6	A	G	9: 105,604,369 (GRCm39)		probably null	Het
Dennd2a	T	A	6: 39,447,290 (GRCm39)	H776L	probably benign	Het
Dimt1	G	A	13: 107,085,219 (GRCm39)	R55K	probably benign	Het
Dlg5	T	A	14: 24,196,319 (GRCm39)	D1626V	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Hectd4	T	C	5: 121,487,465 (GRCm39)	S3487P	possibly damaging	Het
Hivep1	T	C	13: 42,310,787 (GRCm39)	V1009A	possibly damaging	Het
Ifna12	A	T	4: 88,521,091 (GRCm39)	V152E	probably damaging	Het
Igf2r	A	T	17: 12,930,974 (GRCm39)	C903S	possibly damaging	Het
Ipo9	T	C	1: 135,313,672 (GRCm39)	D1002G	possibly damaging	Het
Isyna1	T	C	8: 71,048,904 (GRCm39)	S328P	probably damaging	Het
Itprid2	T	C	2: 79,472,303 (GRCm39)		probably benign	Het
Lamc1	G	A	1: 153,122,788 (GRCm39)	T764I	possibly damaging	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Myo3a	A	T	2: 22,328,418 (GRCm39)	L329F	probably benign	Het
Nlgn2	T	C	11: 69,716,628 (GRCm39)	T638A	probably benign	Het
Oasl2	A	G	5: 115,035,753 (GRCm39)	T10A	probably damaging	Het
Or14j8	A	T	17: 38,263,864 (GRCm39)	F17Y	probably damaging	Het
Or5k1	T	A	16: 58,617,713 (GRCm39)	R165S	probably damaging	Het
Pde10a	A	T	17: 9,172,604 (GRCm39)	N296I	probably damaging	Het
Plb1	A	G	5: 32,519,912 (GRCm39)	I1385M	probably benign	Het
Pld1	T	C	3: 28,141,378 (GRCm39)	V647A	probably damaging	Het
Pnp	T	C	14: 51,185,303 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,905,327 (GRCm39)	I1656K	probably damaging	Het
Rimbp3	G	T	16: 17,027,472 (GRCm39)	E299*	probably null	Het
Sbsn	C	A	7: 30,452,683 (GRCm39)	A566D	probably damaging	Het
Sh3rf1	T	A	8: 61,816,225 (GRCm39)	M494K	probably damaging	Het
Slc2a2	T	A	3: 28,772,885 (GRCm39)	V226E	probably damaging	Het
Smarca2	T	A	19: 26,617,986 (GRCm39)	I339N	possibly damaging	Het
Tenm2	G	T	11: 36,097,912 (GRCm39)	S445R	possibly damaging	Het
Tlcd5	C	A	9: 43,022,783 (GRCm39)	K190N	probably benign	Het
Tnip2	A	T	5: 34,671,075 (GRCm39)	L56Q	probably damaging	Het
Trpv1	C	T	11: 73,141,612 (GRCm39)	S485F	probably damaging	Het
Vmn2r23	T	C	6: 123,681,437 (GRCm39)	M115T	probably benign	Het
Zbtb38	G	A	9: 96,568,672 (GRCm39)	T804I	probably damaging	Het
Zfhx3	T	C	8: 109,520,167 (GRCm39)	S430P	possibly 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
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
R9768:Lta4h	UTSW	10	93,308,818 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16