Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:Lta4h'

440453

Institutional Source

Beutler Lab

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 #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93289273-93320737 bp(+) (GRCm39)

Type of Mutation

splice site (41 bp from exon)

DNA Base Change (assembly)

A to G at 93304731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016033 (fasta)

Gene Model

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

AlphaFold

P24527

Predicted Effect

probably null
Transcript: ENSMUST00000016033

SMART Domains

Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889

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: ENSMUST00000216146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216174

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arfip2	A	G	7: 105,286,370 (GRCm39)	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ash2l	T	C	8: 26,317,339 (GRCm39)	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Dusp4	C	A	8: 35,284,451 (GRCm39)	H255Q	probably damaging	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
F12	T	C	13: 55,570,228 (GRCm39)	K93E	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mfap3l	A	T	8: 61,109,821 (GRCm39)	I66F	probably damaging	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	probably damaging	Het
Zw10	T	C	9: 48,968,950 (GRCm39)	V38A	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
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

Predicted Primers

PCR Primer
(F):5'- AGACCCAGATGAGTAATTTGACTG -3'
(R):5'- TGAGACAAGGGTTCTCCATGC -3'

Sequencing Primer
(F):5'- GACTGGAATTTCTCTCATGAAGC -3'
(R):5'- CTGCAATTTTAAGCATGGATTCGGTC -3'

Posted On

2016-11-08