Mutagenetix > Incidental Mutation

Incidental Mutation 'R0498:Lta4h'

40617

Institutional Source

Beutler Lab

Gene Symbol

Lta4h

Ensembl Gene

ENSMUSG00000015889

Gene Name

leukotriene A4 hydrolase

Synonyms

LTA4 hydrodase

MMRRC Submission

038694-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93289273-93320737 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 93307833 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 benign
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: ENSMUST00000214527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216174

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216931

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.4%

Validation Efficiency

100% (68/68)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,718 (GRCm39)	D220V	probably benign	Het
Adgrf2	A	G	17: 43,025,206 (GRCm39)		probably benign	Het
Aldh18a1	A	G	19: 40,562,716 (GRCm39)	V219A	probably benign	Het
Anapc10	A	G	8: 80,501,610 (GRCm39)	D126G	probably benign	Het
Ap1m2	T	C	9: 21,207,129 (GRCm39)	*426W	probably null	Het
Arhgap21	A	G	2: 20,867,928 (GRCm39)	I865T	probably damaging	Het
Armc8	A	G	9: 99,379,345 (GRCm39)	V527A	probably damaging	Het
Asic5	A	T	3: 81,913,778 (GRCm39)		probably benign	Het
Baz2b	A	C	2: 59,732,340 (GRCm39)		probably benign	Het
Bpifa5	T	C	2: 154,009,169 (GRCm39)	V237A	probably damaging	Het
Brip1	T	A	11: 86,088,745 (GRCm39)	K52I	possibly damaging	Het
Cacna1g	T	C	11: 94,350,685 (GRCm39)	I387V	probably damaging	Het
Cbr4	A	G	8: 61,948,107 (GRCm39)	I135V	probably benign	Het
Ccdc66	C	T	14: 27,222,197 (GRCm39)		probably null	Het
Cubn	G	A	2: 13,449,078 (GRCm39)	T999M	probably damaging	Het
Dnai3	G	T	3: 145,787,119 (GRCm39)	D305E	possibly damaging	Het
Dpp8	C	T	9: 64,953,077 (GRCm39)		probably benign	Het
Dsg1b	T	C	18: 20,542,390 (GRCm39)	S966P	possibly damaging	Het
Erp27	T	C	6: 136,896,862 (GRCm39)		probably benign	Het
Fat4	A	T	3: 39,034,786 (GRCm39)	I2813L	probably benign	Het
Fhod1	G	A	8: 106,056,488 (GRCm39)	R1101C	probably damaging	Het
Hoxc9	T	C	15: 102,892,359 (GRCm39)	S191P	probably damaging	Het
Izumo4	T	C	10: 80,540,030 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,875,261 (GRCm39)	D104N	possibly damaging	Het
Kank4	A	T	4: 98,667,873 (GRCm39)	D191E	probably benign	Het
Kbtbd11	A	G	8: 15,077,605 (GRCm39)	E68G	probably benign	Het
Kdr	C	T	5: 76,119,798 (GRCm39)	V654I	probably benign	Het
Klra1	A	T	6: 130,349,782 (GRCm39)		probably null	Het
Kmt2e	T	A	5: 23,683,970 (GRCm39)	Y373*	probably null	Het
Lepr	A	T	4: 101,602,889 (GRCm39)	M226L	probably benign	Het
Lrp1b	T	A	2: 41,348,417 (GRCm39)	I800F	probably benign	Het
Map3k7	T	C	4: 31,974,814 (GRCm39)		probably benign	Het
Map4k4	G	A	1: 40,029,338 (GRCm39)	R371Q	probably benign	Het
Mgat4f	A	G	1: 134,318,610 (GRCm39)	I461V	possibly damaging	Het
Mme	A	G	3: 63,253,487 (GRCm39)	I444V	probably damaging	Het
Mms19	C	T	19: 41,938,212 (GRCm39)	R582Q	possibly damaging	Het
Mtss1	A	G	15: 58,817,286 (GRCm39)	S502P	probably damaging	Het
Myo3a	G	T	2: 22,467,441 (GRCm39)	A232S	possibly damaging	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Or4k15	A	C	14: 50,364,750 (GRCm39)	T239P	probably damaging	Het
Or8b12	G	A	9: 37,657,550 (GRCm39)	G40E	probably damaging	Het
Pcm1	G	A	8: 41,746,806 (GRCm39)	S1335N	probably benign	Het
Pdzph1	A	G	17: 59,280,825 (GRCm39)	F486L	probably benign	Het
Piezo2	T	C	18: 63,235,245 (GRCm39)	K552R	possibly damaging	Het
Plekhs1	T	A	19: 56,469,536 (GRCm39)		probably null	Het
Pprc1	C	T	19: 46,060,007 (GRCm39)	Q1514*	probably null	Het
Ralgapa1	T	C	12: 55,736,576 (GRCm39)	T1831A	possibly damaging	Het
Rnpep	G	T	1: 135,193,090 (GRCm39)	D455E	probably damaging	Het
Rpgrip1	T	A	14: 52,368,771 (GRCm39)		probably benign	Het
Saxo1	A	T	4: 86,397,133 (GRCm39)	M135K	possibly damaging	Het
Serpina12	T	C	12: 104,002,048 (GRCm39)	T223A	probably damaging	Het
Serpinb3a	A	G	1: 106,974,880 (GRCm39)	F218L	probably damaging	Het
Serpinb9f	T	G	13: 33,509,990 (GRCm39)		probably benign	Het
Spata33	A	G	8: 123,948,662 (GRCm39)	D98G	probably benign	Het
Stard13	T	A	5: 150,975,942 (GRCm39)	Y742F	probably damaging	Het
Tecta	A	G	9: 42,288,910 (GRCm39)	Y552H	probably damaging	Het
Tie1	A	T	4: 118,336,358 (GRCm39)		probably benign	Het
Tmem161a	A	G	8: 70,633,623 (GRCm39)	T254A	probably benign	Het
Tmem30a	G	T	9: 79,681,376 (GRCm39)	Y264*	probably null	Het
Tmem87a	A	T	2: 120,224,946 (GRCm39)	I105K	probably benign	Het
Tnrc6b	A	T	15: 80,742,920 (GRCm39)	D51V	probably damaging	Het
Trgc3	T	A	13: 19,445,262 (GRCm39)	M70K	probably damaging	Het
Trpc4	T	C	3: 54,198,632 (GRCm39)	F519L	probably damaging	Het
Ttn	T	C	2: 76,539,925 (GRCm39)	T26027A	probably damaging	Het
Vmn1r198	A	C	13: 22,539,144 (GRCm39)	H121P	probably damaging	Het
Vps33a	A	G	5: 123,709,024 (GRCm39)	F64L	probably benign	Het
Zfp1008	T	C	13: 62,755,201 (GRCm39)	N39S	probably damaging	Het
Zfp994	A	T	17: 22,419,882 (GRCm39)	C356S	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
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

Predicted Primers

PCR Primer
(F):5'- GCAATAGCAAGATTGCCGCTTCC -3'
(R):5'- TGTTTCTTGGCTCCCAGTTTAGAACAG -3'

Sequencing Primer
(F):5'- TGTAGAGGCCATGCTATCTATAAGG -3'
(R):5'- CTCCCAGTTTAGAACAGGGCTATG -3'

Posted On

2013-05-23