Mutagenetix > Incidental Mutation

Incidental Mutation 'R7645:Ltc4s'

590490

Institutional Source

Beutler Lab

Gene Symbol

Ltc4s

Ensembl Gene

ENSMUSG00000020377

Gene Name

leukotriene C4 synthase

Synonyms

MMRRC Submission

045701-MU

Accession Numbers

Essential gene?

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

Stock #

R7645 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50127288-50129378 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 50129373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041725] [ENSMUST00000101265] [ENSMUST00000102772] [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 benign
Transcript: ENSMUST00000101265

SMART Domains

Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377

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

Predicted Effect

probably benign
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 benign
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

probably benign
Transcript: ENSMUST00000221525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (46/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,789 (GRCm39)	C375S	probably benign	Het
Adgrg3	A	G	8: 95,761,392 (GRCm39)		probably benign	Het
Amn1	C	T	6: 149,086,529 (GRCm39)	M44I	probably benign	Het
Atg2b	T	C	12: 105,589,689 (GRCm39)	Y1854C	probably benign	Het
Bcat2	T	A	7: 45,237,387 (GRCm39)	N290K	probably benign	Het
Ccdc39	T	C	3: 33,879,318 (GRCm39)		probably null	Het
Cnot10	T	C	9: 114,442,705 (GRCm39)	S501G	probably benign	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Coq2	A	C	5: 100,808,116 (GRCm39)	C228W	probably damaging	Het
Cpt2	A	T	4: 107,764,171 (GRCm39)	M531K	possibly damaging	Het
Dennd1a	A	G	2: 37,911,375 (GRCm39)	L204P	probably damaging	Het
Dock9	C	T	14: 121,835,075 (GRCm39)	V1305M	probably benign	Het
Dusp16	A	G	6: 134,702,888 (GRCm39)	I201T	probably damaging	Het
Esco2	T	C	14: 66,064,630 (GRCm39)	D370G	probably benign	Het
Fbxl4	T	C	4: 22,377,037 (GRCm39)	S158P	probably damaging	Het
Fut10	A	G	8: 31,726,232 (GRCm39)	H329R	possibly damaging	Het
Gpr3	A	G	4: 132,938,640 (GRCm39)	W11R	probably damaging	Het
H2-M3	T	A	17: 37,581,620 (GRCm39)	I94N	probably damaging	Het
Krt7	T	C	15: 101,310,524 (GRCm39)	I57T	probably damaging	Het
Ms4a6b	A	T	19: 11,501,304 (GRCm39)	T105S	probably damaging	Het
Muc6	T	C	7: 141,234,923 (GRCm39)	H592R	probably benign	Het
Ncam1	T	C	9: 49,476,303 (GRCm39)	E262G	probably benign	Het
Or4x11	T	A	2: 89,868,091 (GRCm39)	I276K	possibly damaging	Het
Or5b108	T	C	19: 13,168,937 (GRCm39)	V302A	probably benign	Het
Plxnb1	T	A	9: 108,943,480 (GRCm39)	S1908T	probably damaging	Het
Polg2	A	T	11: 106,666,419 (GRCm39)	M242K	probably benign	Het
Polr3g	T	C	13: 81,842,563 (GRCm39)	T151A	unknown	Het
Pramel51	T	C	12: 88,143,028 (GRCm39)	T392A	probably damaging	Het
Psmb8	T	C	17: 34,419,186 (GRCm39)	L160P	possibly damaging	Het
Rab5b	G	A	10: 128,517,260 (GRCm39)	A176V	possibly damaging	Het
Rreb1	T	C	13: 38,115,010 (GRCm39)	C790R	probably damaging	Het
Rufy3	A	G	5: 88,788,476 (GRCm39)	T506A	probably benign	Het
Samd11	T	C	4: 156,340,243 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,029,450 (GRCm39)	F279L	possibly damaging	Het
Slc49a4	T	A	16: 35,554,438 (GRCm39)		probably null	Het
Son	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,183 (GRCm39)		probably benign	Het
Srgn	C	T	10: 62,330,757 (GRCm39)	W116*	probably null	Het
Svil	A	G	18: 5,099,663 (GRCm39)	E1733G	probably damaging	Het
Tbc1d22a	C	T	15: 86,119,742 (GRCm39)	P49S	probably benign	Het
Tbc1d9	A	T	8: 83,969,182 (GRCm39)	K490M	probably damaging	Het
Tcte1	A	G	17: 45,845,915 (GRCm39)	N173S	probably benign	Het
Tmco6	C	T	18: 36,868,446 (GRCm39)	R31W	probably damaging	Het
Ttn	C	A	2: 76,730,025 (GRCm39)	A5155S	unknown	Het
Tyro3	T	C	2: 119,647,387 (GRCm39)	Y839H	probably damaging	Het
Zc3h12d	A	G	10: 7,743,340 (GRCm39)	D370G	probably benign	Het
Zc3h7b	T	C	15: 81,664,803 (GRCm39)	L554P	probably damaging	Het
Zfp352	C	T	4: 90,113,014 (GRCm39)	P385S	probably benign	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
R2420:Ltc4s	UTSW	11	50,128,166 (GRCm39)	critical splice donor site	probably null
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
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'- TGCTTGGACCTTGGTACCAG -3'
(R):5'- TGGGTGAGCAGCATGAGTTC -3'

Sequencing Primer
(F):5'- ACCTTGGTACCAGGAGGCTAG -3'
(R):5'- AGCATGAGTTCCGCCAC -3'

Posted On

2019-10-24