Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03194:Ltc4s'

412744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ltc4s

Ensembl Gene

ENSMUSG00000020377

Gene Name

leukotriene C4 synthase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.493) question?

Stock #

IGL03194

Quality Score

Status

Chromosome

Chromosomal Location

50127288-50129378 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 50127398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 151 (*151W)

Ref Sequence

ENSEMBL: ENSMUSP00000099833 (fasta)

Gene Model

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

AlphaFold

Q60860

PDB Structure

Mus Musculus LTC4 synthase in apo form [X-RAY DIFFRACTION]
Mus Musculus LTC4 synthase in GSH complex form [X-RAY DIFFRACTION]
Mus Musculus LTC4 synthase in S-hexyl-GSH complex form [X-RAY DIFFRACTION]

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
AA Change: *114W

SMART Domains

Protein: ENSMUSP00000098823
Gene: ENSMUSG00000020377
AA Change: *114W

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

Predicted Effect

probably null
Transcript: ENSMUST00000102772
AA Change: *151W

SMART Domains

Protein: ENSMUSP00000099833
Gene: ENSMUSG00000020377
AA Change: *151W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122977

Predicted Effect

unknown
Transcript: ENSMUST00000125555
AA Change: R146G

SMART Domains

Protein: ENSMUSP00000121584
Gene: ENSMUSG00000020377
AA Change: R146G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133714

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: ENSMUST00000185146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180443

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222076

Predicted Effect

unknown
Transcript: ENSMUST00000221525
AA Change: R109G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222498

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 84,460,647 (GRCm39)	S64G	possibly damaging	Het
Clcn7	T	C	17: 25,369,522 (GRCm39)	V306A	probably damaging	Het
Clec4b2	G	A	6: 123,177,946 (GRCm39)	G87D	probably benign	Het
Disp2	A	T	2: 118,618,110 (GRCm39)	R219W	probably damaging	Het
Dnaaf11	A	T	15: 66,314,048 (GRCm39)	D317E	probably benign	Het
Dstyk	A	T	1: 132,384,054 (GRCm39)		probably benign	Het
F830045P16Rik	T	C	2: 129,302,240 (GRCm39)	S451G	possibly damaging	Het
Fat2	T	A	11: 55,201,821 (GRCm39)	T418S	probably benign	Het
Fto	G	A	8: 92,136,415 (GRCm39)	D228N	probably damaging	Het
Gins4	A	T	8: 23,724,762 (GRCm39)		probably benign	Het
Gm10220	T	A	5: 26,326,231 (GRCm39)	R40W	probably damaging	Het
Gm11149	G	A	9: 49,457,646 (GRCm39)		probably benign	Het
Gm5431	T	G	11: 48,786,364 (GRCm39)		probably benign	Het
Hebp1	A	G	6: 135,132,190 (GRCm39)	M59T	probably benign	Het
Lrp1	A	T	10: 127,404,554 (GRCm39)	V1989D	probably damaging	Het
Map3k21	A	G	8: 126,650,801 (GRCm39)	T268A	possibly damaging	Het
Mdp1	A	G	14: 55,896,444 (GRCm39)	L164P	probably damaging	Het
Mroh4	T	C	15: 74,483,388 (GRCm39)	T650A	probably damaging	Het
Mss51	T	C	14: 20,535,165 (GRCm39)	N202D	probably benign	Het
Mtus2	G	A	5: 148,043,913 (GRCm39)	A834T	probably damaging	Het
Nalf1	T	C	8: 9,282,975 (GRCm39)	D358G	probably damaging	Het
Ncoa6	A	G	2: 155,257,788 (GRCm39)	M585T	possibly damaging	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Npvf	A	C	6: 50,627,878 (GRCm39)	D180E	possibly damaging	Het
Nup188	A	T	2: 30,194,346 (GRCm39)	Y173F	possibly damaging	Het
Oas3	C	A	5: 120,897,018 (GRCm39)	A868S	probably damaging	Het
Pkhd1l1	A	G	15: 44,381,531 (GRCm39)	T1086A	probably damaging	Het
Pla2g6	G	A	15: 79,201,985 (GRCm39)	P62L	probably damaging	Het
Rara	T	C	11: 98,862,490 (GRCm39)	M297T	possibly damaging	Het
Tmc1	T	C	19: 20,782,017 (GRCm39)	E567G	probably damaging	Het
Tnxb	C	T	17: 34,914,921 (GRCm39)	Q1970*	probably null	Het
Usp11	T	C	X: 20,578,656 (GRCm39)	I162T	probably benign	Het
Utrn	A	G	10: 12,282,173 (GRCm39)		probably benign	Het
Zfhx3	A	G	8: 109,521,359 (GRCm39)	E827G	probably damaging	Het

Other mutations in Ltc4s

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02