Mutagenetix > Incidental Mutation

Incidental Mutation 'R2420:Ltc4s'

249220

Institutional Source

Beutler Lab

Gene Symbol

Ltc4s

Ensembl Gene

ENSMUSG00000020377

Gene Name

leukotriene C4 synthase

Synonyms

MMRRC Submission

040382-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.446) question?

Stock #

R2420 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50127288-50129378 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 50128166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041725] [ENSMUST00000101265] [ENSMUST00000101265] [ENSMUST00000101265] [ENSMUST00000102772] [ENSMUST00000102772] [ENSMUST00000102772] [ENSMUST00000125555] [ENSMUST00000125555] [ENSMUST00000221525]

AlphaFold

Q60860

Predicted Effect

probably benign
Transcript: ENSMUST00000041725

SMART Domains

Protein: ENSMUSP00000043346
Gene: ENSMUSG00000036620

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Glyco_transf_54	98	387	6.6e-138	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101265

SMART Domains

Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	112	4e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101265

SMART Domains

Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	112	4e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000101265

SMART Domains

Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	112	4e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102772

SMART Domains

Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	131	1.1e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102772

SMART Domains

Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	131	1.1e-18	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000102772

SMART Domains

Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
Pfam:MAPEG	8	131	1.1e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122977

Predicted Effect

probably null
Transcript: ENSMUST00000125555

SMART Domains

Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
low complexity region	64	83	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000125555

SMART Domains

Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
low complexity region	64	83	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151803

SMART Domains

Protein: ENSMUSP00000116802
Gene: ENSMUSG00000036620

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	46	252	1.9e-89	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180443

Predicted Effect

probably null
Transcript: ENSMUST00000221525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222076

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221081

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is an enzyme that catalyzes the synthesis of leukotriene C4 by combining leukotriene A4 with reduced glutathione. The encoded protein is found in the outer nuclear membrane and in the peripheral endoplasmic reticulum. Leukotrienes have been implicated as mediators of anaphylaxis and inflammatory conditions such as bronchial asthma in humans. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormal inflammatory and hypersensitivity reactions but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	G	2: 152,270,921 (GRCm39)	K48R	probably damaging	Het
Acsm2	T	C	7: 119,162,857 (GRCm39)	F44L	probably damaging	Het
Actr5	T	C	2: 158,478,001 (GRCm39)	F457S	probably damaging	Het
Adamts3	A	G	5: 89,831,034 (GRCm39)	S1007P	probably damaging	Het
Ahnak	C	T	19: 8,986,620 (GRCm39)	P2635S	possibly damaging	Het
Ankrd17	A	T	5: 90,437,179 (GRCm39)	D555E	possibly damaging	Het
Arhgap29	A	G	3: 121,767,629 (GRCm39)	I24V	probably benign	Het
Atxn2	A	T	5: 121,940,142 (GRCm39)		probably null	Het
Birc6	T	A	17: 74,967,609 (GRCm39)	L301Q	probably damaging	Het
Ccdc137	G	A	11: 120,353,090 (GRCm39)		probably null	Het
Ccdc18	A	C	5: 108,376,454 (GRCm39)	E1298D	probably damaging	Het
Chst9	A	T	18: 15,585,341 (GRCm39)	N407K	probably damaging	Het
Cwf19l2	A	G	9: 3,411,341 (GRCm39)	K73E	possibly damaging	Het
Dhcr24	G	T	4: 106,418,291 (GRCm39)		probably benign	Het
Dnajc21	A	G	15: 10,462,021 (GRCm39)	S127P	probably benign	Het
Egln1	T	C	8: 125,674,985 (GRCm39)	N270S	probably benign	Het
Eme1	A	G	11: 94,536,640 (GRCm39)		probably null	Het
Emilin2	A	G	17: 71,581,274 (GRCm39)	I484T	possibly damaging	Het
Entpd2	T	C	2: 25,289,295 (GRCm39)	I259T	probably benign	Het
Fbp1	T	C	13: 63,019,120 (GRCm39)	K24E	probably benign	Het
Fga	A	T	3: 82,940,461 (GRCm39)	N705I	possibly damaging	Het
Gas1	G	T	13: 60,324,744 (GRCm39)		probably benign	Het
Glrb	A	G	3: 80,767,542 (GRCm39)	I226T	probably damaging	Het
Gm17421	T	A	12: 113,333,107 (GRCm39)		noncoding transcript	Het
Gm44501	A	T	17: 40,889,600 (GRCm39)	H38L	possibly damaging	Het
H2-M10.5	A	G	17: 37,085,891 (GRCm39)	I308V	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Jcad	T	C	18: 4,675,952 (GRCm39)	M1238T	probably damaging	Het
Kank1	T	C	19: 25,387,821 (GRCm39)	L498S	probably damaging	Het
Krt10	G	A	11: 99,277,933 (GRCm39)	T338I	possibly damaging	Het
Krt13	A	T	11: 100,010,877 (GRCm39)	L159Q	probably benign	Het
Lama1	A	T	17: 68,057,548 (GRCm39)	M541L	probably benign	Het
Lilra6	A	G	7: 3,917,857 (GRCm39)	Y96H	probably damaging	Het
Ly6g6e	G	A	17: 35,297,122 (GRCm39)	R121Q	probably benign	Het
Mfn1	A	G	3: 32,623,664 (GRCm39)	I263V	probably benign	Het
Mmaa	T	A	8: 80,008,061 (GRCm39)	R59W	probably damaging	Het
Mug2	C	A	6: 122,060,419 (GRCm39)	T1385K	probably damaging	Het
Mypn	G	T	10: 63,028,648 (GRCm39)	Y138*	probably null	Het
Nav3	A	C	10: 109,699,674 (GRCm39)	S273R	probably damaging	Het
Ndufaf1	T	C	2: 119,486,218 (GRCm39)	E298G	probably damaging	Het
Or10d5	A	G	9: 39,861,824 (GRCm39)	L81P	possibly damaging	Het
Or4c114	T	C	2: 88,905,336 (GRCm39)	Y33C	possibly damaging	Het
Or4k42	T	C	2: 111,319,602 (GRCm39)		probably null	Het
Or5k15	T	C	16: 58,710,328 (GRCm39)	E85G	probably benign	Het
Or5p51	T	C	7: 107,444,025 (GRCm39)	K305R	probably benign	Het
Pak1	A	T	7: 97,503,686 (GRCm39)	D7V	probably benign	Het
Pax3	A	T	1: 78,173,501 (GRCm39)		probably null	Het
Plekhg1	G	A	10: 3,908,048 (GRCm39)	M988I	probably benign	Het
Prickle1	A	G	15: 93,401,518 (GRCm39)	F322S	probably damaging	Het
Prl8a2	A	G	13: 27,532,896 (GRCm39)	E36G	possibly damaging	Het
Prss45	A	G	9: 110,668,160 (GRCm39)	I118V	possibly damaging	Het
Psd4	T	G	2: 24,291,253 (GRCm39)	V597G	probably damaging	Het
Psmb10	A	G	8: 106,663,934 (GRCm39)	S108P	probably benign	Het
Pttg1ip2	T	C	5: 5,505,912 (GRCm39)	Y123C	probably benign	Het
Shank3	A	T	15: 89,405,413 (GRCm39)	K455*	probably null	Het
Spag17	T	A	3: 99,934,935 (GRCm39)	W714R	probably benign	Het
Synrg	A	G	11: 83,900,050 (GRCm39)	E674G	probably damaging	Het
Tep1	T	A	14: 51,071,480 (GRCm39)	H2055L	probably benign	Het
Terb1	T	C	8: 105,225,227 (GRCm39)	T14A	probably damaging	Het
Tmub2	T	A	11: 102,178,581 (GRCm39)	D161E	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Tyr	T	A	7: 87,078,397 (GRCm39)	I488F	probably benign	Het
Uba6	A	G	5: 86,280,475 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,838,829 (GRCm39)	Y674C	probably damaging	Het
Vmn2r105	T	A	17: 20,448,097 (GRCm39)	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,234,398 (GRCm39)	Y605H	probably benign	Het
Wnk1	A	G	6: 119,913,328 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,455,465 (GRCm39)	A1153E	probably benign	Het
Zfp13	A	C	17: 23,795,186 (GRCm39)	Y462D	probably damaging	Het
Zfp644	A	G	5: 106,785,110 (GRCm39)	M479T	possibly damaging	Het

Other mutations in Ltc4s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03194:Ltc4s	APN	11	50,127,398 (GRCm39)	makesense	probably null
R0941:Ltc4s	UTSW	11	50,128,269 (GRCm39)	critical splice acceptor site	probably null
R1625:Ltc4s	UTSW	11	50,128,215 (GRCm39)	missense	possibly damaging	0.81
R4647:Ltc4s	UTSW	11	50,128,052 (GRCm39)	missense	probably benign	0.00
R4700:Ltc4s	UTSW	11	50,127,908 (GRCm39)	missense	probably damaging	1.00
R7645:Ltc4s	UTSW	11	50,129,373 (GRCm39)	unclassified	probably benign
R8367:Ltc4s	UTSW	11	50,127,511 (GRCm39)	missense	possibly damaging	0.66
R9086:Ltc4s	UTSW	11	50,128,074 (GRCm39)	missense	probably damaging	1.00
R9497:Ltc4s	UTSW	11	50,127,386 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGTAGAACAGTCCGCACAG -3'
(R):5'- GCATTAGAAGAGAGTCGCTCAG -3'

Sequencing Primer
(F):5'- TCCTGCGAGAGTCGATGCAAG -3'
(R):5'- AGTCGCTCAGTGAGAGGC -3'

Posted On

2014-11-12