Mutagenetix > Incidental Mutation

Incidental Mutation 'R6965:Lta4h'

541957

Institutional Source

Beutler Lab

Gene Symbol

Lta4h

Ensembl Gene

ENSMUSG00000015889

Gene Name

leukotriene A4 hydrolase

Synonyms

LTA4 hydrodase

MMRRC Submission

045075-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93289273-93320737 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 93307759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 331 (G331*)

Ref Sequence

ENSEMBL: ENSMUSP00000016033 (fasta)

Gene Model

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

AlphaFold

P24527

Predicted Effect

probably null
Transcript: ENSMUST00000016033
AA Change: G331*

SMART Domains

Protein: ENSMUSP00000016033
Gene: ENSMUSG00000015889
AA Change: G331*

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	C	T	7: 119,882,452 (GRCm39)	Q1205*	probably null	Het
Als2	A	G	1: 59,209,716 (GRCm39)	F1422S	possibly damaging	Het
Anapc4	T	C	5: 52,993,093 (GRCm39)	V68A	possibly damaging	Het
Atmin	T	C	8: 117,683,777 (GRCm39)	F479S	probably damaging	Het
Atp7b	T	C	8: 22,518,101 (GRCm39)	T234A	probably benign	Het
Bpifa1	G	A	2: 153,987,581 (GRCm39)	G144S	probably damaging	Het
Brf2	A	T	8: 27,614,586 (GRCm39)	M200K	probably benign	Het
C1ql2	G	A	1: 120,268,944 (GRCm39)	C33Y	probably damaging	Het
Cdk18	A	G	1: 132,045,319 (GRCm39)	V269A	probably damaging	Het
Clcc1	T	C	3: 108,580,625 (GRCm39)	V313A	probably damaging	Het
Cntrl	A	T	2: 35,052,845 (GRCm39)	T1117S	probably benign	Het
Col15a1	G	A	4: 47,247,533 (GRCm39)	E236K	probably damaging	Het
Comp	T	C	8: 70,829,164 (GRCm39)	L278P	probably damaging	Het
Csnk2a1-ps3	C	T	1: 156,352,119 (GRCm39)	R107*	probably null	Het
Dlg5	C	A	14: 24,199,498 (GRCm39)	D1469Y	probably damaging	Het
Efna1	A	T	3: 89,186,782 (GRCm39)	V23D	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Epb41l4b	T	C	4: 57,040,915 (GRCm39)	Y516C	probably damaging	Het
Esr2	T	C	12: 76,168,631 (GRCm39)	D526G	probably damaging	Het
Fam184b	T	C	5: 45,712,477 (GRCm39)	T514A	probably benign	Het
Fcmr	A	C	1: 130,803,724 (GRCm39)	E176A	possibly damaging	Het
Fry	T	A	5: 150,339,685 (GRCm39)	N1485K	possibly damaging	Het
Fut2	A	G	7: 45,300,305 (GRCm39)	C156R	probably damaging	Het
Gm5431	T	C	11: 48,786,027 (GRCm39)	Y116C	probably benign	Het
Gm5493	T	A	17: 22,967,047 (GRCm39)	V61E	possibly damaging	Het
Golga4	A	T	9: 118,377,847 (GRCm39)	Q456L	probably damaging	Het
Gpam	T	C	19: 55,063,041 (GRCm39)	Y757C	probably damaging	Het
Iqcg	C	T	16: 32,851,174 (GRCm39)	A266T	probably benign	Het
Macf1	C	A	4: 123,302,538 (GRCm39)	V655F	probably benign	Het
Map3k13	T	A	16: 21,740,900 (GRCm39)	D742E	probably benign	Het
Mrgprb2	G	A	7: 48,202,597 (GRCm39)	L43F	probably damaging	Het
N4bp1	T	C	8: 87,571,461 (GRCm39)	R846G	probably damaging	Het
Nbn	T	C	4: 15,970,863 (GRCm39)	I282T	probably benign	Het
Ncor1	C	T	11: 62,244,059 (GRCm39)		probably null	Het
Or4a77	G	T	2: 89,487,009 (GRCm39)	P259T	probably damaging	Het
Or4d10c	A	G	19: 12,066,120 (GRCm39)	F12S	possibly damaging	Het
Or8b12	T	A	9: 37,657,433 (GRCm39)	M1K	probably null	Het
Pclo	A	G	5: 14,731,976 (GRCm39)		probably benign	Het
Pde9a	G	T	17: 31,662,861 (GRCm39)	V97L	probably benign	Het
Ptch1	T	C	13: 63,672,881 (GRCm39)	Y771C	possibly damaging	Het
R3hcc1l	G	A	19: 42,551,284 (GRCm39)	D94N	probably damaging	Het
Rnpep	T	A	1: 135,190,858 (GRCm39)	K602*	probably null	Het
Rph3al	T	C	11: 75,745,276 (GRCm39)	Y156C	probably damaging	Het
Rundc1	A	T	11: 101,324,737 (GRCm39)	Y481F	possibly damaging	Het
Serpinb9f	A	G	13: 33,509,859 (GRCm39)	K17R	possibly damaging	Het
Smpd3	T	C	8: 106,986,513 (GRCm39)	H459R	probably damaging	Het
Spata31	A	C	13: 65,070,648 (GRCm39)	Q932P	possibly damaging	Het
Srgap3	C	T	6: 112,700,090 (GRCm39)	A963T	probably damaging	Het
Syne1	A	T	10: 5,179,120 (GRCm39)	F4451L	possibly damaging	Het
Tbc1d19	T	A	5: 54,014,266 (GRCm39)		probably null	Het
Thap12	T	A	7: 98,364,669 (GRCm39)	V279D	probably damaging	Het
Tmprss6	T	C	15: 78,328,328 (GRCm39)	D544G	probably damaging	Het
Tox2	A	G	2: 163,164,930 (GRCm39)	*523W	probably null	Het
Txnrd1	T	C	10: 82,717,652 (GRCm39)	I212T	probably benign	Het
Unc80	T	C	1: 66,685,725 (GRCm39)	I2283T	probably benign	Het
Vmn1r176	A	G	7: 23,535,099 (GRCm39)	I18T	possibly damaging	Het
Vmn2r101	C	T	17: 19,811,284 (GRCm39)	T456I	probably benign	Het
Vmn2r79	T	A	7: 86,651,100 (GRCm39)	H166Q	probably benign	Het
Zer1	A	G	2: 29,991,059 (GRCm39)	V723A	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
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
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'- AGAGGCCATGCTATCTATAAGGG -3'
(R):5'- GGCTCCCAGTTTAGAACAGG -3'

Sequencing Primer
(F):5'- GGCCATGCTATCTATAAGGGCTCTC -3'
(R):5'- CCAGTTTAGAACAGGGCTATGC -3'

Posted On

2018-11-28