Mutagenetix > Incidental Mutation

Incidental Mutation 'R0659:Cth'

218692

Institutional Source

Beutler Lab

Gene Symbol

Cth

Ensembl Gene

ENSMUSG00000028179

Gene Name

cystathionine gamma lyase

Synonyms

CSE, 0610010I13Rik

MMRRC Submission

038844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0659 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

157599885-157630714 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 157625752 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118539]

AlphaFold

Q8VCN5

Predicted Effect

probably benign
Transcript: ENSMUST00000118539

SMART Domains

Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179

Domain	Start	End	E-Value	Type
Pfam:Cys_Met_Meta_PP	18	394	5.8e-157	PFAM
Pfam:Aminotran_1_2	32	235	4.3e-9	PFAM
Pfam:DegT_DnrJ_EryC1	53	246	1.9e-7	PFAM
Pfam:Aminotran_5	68	232	4e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125028

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cytoplasmic enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit hypertension associated with impaired endothelium-dependent vasorelaxation. Mice homozygous for another knock-out allele exhibit normal blood pressure but sensitivty to a low cysteine diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,140,565 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,992,366 (GRCm39)	H4550R	possibly damaging	Het
Anxa6	A	G	11: 54,874,173 (GRCm39)	V591A	probably damaging	Het
Apol7c	A	G	15: 77,410,473 (GRCm39)	S158P	probably damaging	Het
Asxl1	T	A	2: 153,242,644 (GRCm39)	S1065T	possibly damaging	Het
Cacna2d4	A	G	6: 119,322,067 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,587,452 (GRCm39)		probably benign	Het
Cep78	C	T	19: 15,933,554 (GRCm39)	V675M	probably damaging	Het
Ces4a	T	C	8: 105,871,554 (GRCm39)		probably benign	Het
Chpf	A	G	1: 75,454,367 (GRCm39)	V137A	probably damaging	Het
Comp	T	C	8: 70,831,751 (GRCm39)	S457P	possibly damaging	Het
Cyp2a12	T	C	7: 26,733,563 (GRCm39)	L314P	probably damaging	Het
Ets1	C	T	9: 32,649,589 (GRCm39)	R309C	probably damaging	Het
Foxp2	T	C	6: 15,254,278 (GRCm39)		probably benign	Het
Gm9875	T	G	2: 13,562,995 (GRCm39)	F108V	unknown	Het
Golga5	G	T	12: 102,442,467 (GRCm39)	V269F	possibly damaging	Het
Greb1	T	C	12: 16,730,213 (GRCm39)	Y1738C	probably damaging	Het
Grin2a	G	T	16: 9,810,336 (GRCm39)	P21Q	probably damaging	Het
Hdac5	A	T	11: 102,086,850 (GRCm39)	V70E	probably damaging	Het
Hdac9	T	C	12: 34,487,221 (GRCm39)	Q60R	probably damaging	Het
Hsd17b3	T	C	13: 64,221,750 (GRCm39)	T92A	possibly damaging	Het
Itpk1	C	T	12: 102,572,337 (GRCm39)		probably benign	Het
Lin28a	T	C	4: 133,735,410 (GRCm39)		probably benign	Het
Mapk6	T	C	9: 75,305,244 (GRCm39)	S58G	probably damaging	Het
Mmp21	G	A	7: 133,279,396 (GRCm39)		probably benign	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Mroh2a	G	A	1: 88,178,064 (GRCm39)	D1053N	probably damaging	Het
Msh3	T	C	13: 92,481,604 (GRCm39)	N303D	possibly damaging	Het
Mto1	C	T	9: 78,378,072 (GRCm39)	T638M	probably damaging	Het
Mto1	T	A	9: 78,364,790 (GRCm39)	I343N	probably damaging	Het
Myo18b	T	C	5: 112,908,193 (GRCm39)	K2027E	possibly damaging	Het
Myo7a	T	C	7: 97,703,545 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,256,703 (GRCm39)	I107T	probably damaging	Het
Or5k17	C	A	16: 58,746,772 (GRCm39)	R54L	possibly damaging	Het
Or8g37	T	G	9: 39,731,112 (GRCm39)	M59R	possibly damaging	Het
Osbpl5	A	G	7: 143,258,767 (GRCm39)	S268P	probably damaging	Het
Pih1d1	T	A	7: 44,809,399 (GRCm39)	S289T	probably benign	Het
Pik3c2b	A	G	1: 132,998,938 (GRCm39)	D353G	probably damaging	Het
Ppef2	A	G	5: 92,378,368 (GRCm39)	L609P	probably damaging	Het
Prune2	A	T	19: 17,100,199 (GRCm39)	D1901V	probably damaging	Het
Rdh9	T	C	10: 127,612,444 (GRCm39)	Y31H	possibly damaging	Het
Slc5a9	T	A	4: 111,741,068 (GRCm39)	Y526F	possibly damaging	Het
Slitrk5	A	G	14: 111,918,121 (GRCm39)	K582E	probably benign	Het
Sult1c2	A	T	17: 54,138,806 (GRCm39)	M257K	probably damaging	Het
Tasor2	T	C	13: 3,624,448 (GRCm39)	D1834G	probably damaging	Het
Tmem132d	A	G	5: 128,061,351 (GRCm39)	I417T	possibly damaging	Het
Tmem229b	T	C	12: 79,011,908 (GRCm39)	T8A	probably benign	Het
Tmem237	T	C	1: 59,153,253 (GRCm39)	I89M	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,683 (GRCm39)	D140V	probably damaging	Het
Tnrc6b	T	A	15: 80,807,647 (GRCm39)		probably benign	Het
Trio	A	G	15: 27,831,485 (GRCm39)	L194P	probably damaging	Het
Vmn2r74	T	C	7: 85,605,122 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,828,217 (GRCm39)	M1457K	probably benign	Het
Zfhx2	A	G	14: 55,311,258 (GRCm39)	C479R	possibly damaging	Het
Zfp420	T	A	7: 29,574,964 (GRCm39)	C395S	probably damaging	Het
Zfp740	A	G	15: 102,121,094 (GRCm39)	T136A	possibly damaging	Het
Zfp82	C	T	7: 29,755,754 (GRCm39)	E443K	probably damaging	Het
Zranb2	A	G	3: 157,247,400 (GRCm39)	S193G	probably benign	Het

Other mutations in Cth

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Cth	APN	3	157,610,804 (GRCm39)	missense	probably damaging	0.99
IGL01744:Cth	APN	3	157,630,572 (GRCm39)	missense	probably benign
IGL03128:Cth	APN	3	157,626,672 (GRCm39)	missense	probably damaging	1.00
R0477:Cth	UTSW	3	157,610,812 (GRCm39)	missense	probably damaging	1.00
R1699:Cth	UTSW	3	157,613,073 (GRCm39)	missense	probably damaging	1.00
R1724:Cth	UTSW	3	157,619,364 (GRCm39)	missense	probably damaging	1.00
R1744:Cth	UTSW	3	157,611,905 (GRCm39)	missense	probably damaging	0.99
R3822:Cth	UTSW	3	157,624,136 (GRCm39)	missense	probably benign	0.27
R3937:Cth	UTSW	3	157,625,677 (GRCm39)	missense	possibly damaging	0.79
R3982:Cth	UTSW	3	157,619,334 (GRCm39)	nonsense	probably null
R4342:Cth	UTSW	3	157,630,613 (GRCm39)	missense	probably damaging	1.00
R5436:Cth	UTSW	3	157,600,463 (GRCm39)	missense	probably benign
R7466:Cth	UTSW	3	157,630,522 (GRCm39)	missense	probably benign	0.05
R8348:Cth	UTSW	3	157,630,657 (GRCm39)	missense	probably benign	0.19
R8448:Cth	UTSW	3	157,630,657 (GRCm39)	missense	probably benign	0.19
R9441:Cth	UTSW	3	157,616,575 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCACCTTTGAAAGAACATTGTCCC -3'
(R):5'- TCAGGCTATCACTGTGCTCATTTGC -3'

Sequencing Primer
(F):5'- TGTCCCTGAAAGTGGAATAGTACC -3'
(R):5'- TCAATATCTACCCTCtgtgtgtg -3'

Posted On

2014-08-20