Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Cth'

578754

Institutional Source

Beutler Lab

Gene Symbol

Cth

Ensembl Gene

ENSMUSG00000028179

Gene Name

cystathionase (cystathionine gamma-lyase)

Synonyms

CSE, 0610010I13Rik

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157894248-157925077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 157924885 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 49 (D49V)

Ref Sequence

ENSEMBL: ENSMUSP00000113672 (fasta)

Gene Model

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

AlphaFold

Q8VCN5

Predicted Effect

probably benign
Transcript: ENSMUST00000118539
AA Change: D49V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: D49V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741 (GRCm38)	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437 (GRCm38)		probably benign	Het
Amer3	A	G	1: 34,587,993 (GRCm38)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261 (GRCm38)		probably null	Het
Art4	G	T	6: 136,854,850 (GRCm38)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604 (GRCm38)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105 (GRCm38)	Y503D	probably damaging	Het
Cd163l1	T	C	7: 140,220,706 (GRCm38)		probably null	Het
Cd180	A	T	13: 102,704,995 (GRCm38)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174 (GRCm38)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855 (GRCm38)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983 (GRCm38)		probably null	Het
Cfap77	G	T	2: 28,955,613 (GRCm38)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973 (GRCm38)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650 (GRCm38)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386 (GRCm38)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128 (GRCm38)	V77A	probably benign	Het
Col12a1	C	T	9: 79,655,407 (GRCm38)	E1798K	possibly damaging	Het
Ctnnb1	T	C	9: 120,955,416 (GRCm38)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785 (GRCm38)	N690S	probably benign	Het
Cyhr1	C	T	15: 76,648,186 (GRCm38)	D241N	probably benign	Het
Dennd4c	A	G	4: 86,774,331 (GRCm38)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Eef2k	A	G	7: 120,903,484 (GRCm38)		probably null	Het
Ephb2	C	T	4: 136,659,065 (GRCm38)	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983 (GRCm38)	Y22C	probably benign	Het
F5	C	T	1: 164,193,328 (GRCm38)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471 (GRCm38)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432 (GRCm38)	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569 (GRCm38)	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207 (GRCm38)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779 (GRCm38)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616 (GRCm38)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849 (GRCm38)	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420 (GRCm38)		probably benign	Het
Ippk	T	C	13: 49,432,467 (GRCm38)		probably null	Het
Klc4	T	A	17: 46,639,910 (GRCm38)	I258F	probably benign	Het
Manba	C	A	3: 135,542,393 (GRCm38)	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789 (GRCm38)	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892 (GRCm38)	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986 (GRCm38)	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220 (GRCm38)	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147 (GRCm38)	W834*	probably null	Het
Olfr1134	T	C	2: 87,656,396 (GRCm38)	N175S	possibly damaging	Het
Olfr1419	T	A	19: 11,870,316 (GRCm38)	D300V	possibly damaging	Het
Olfr285	T	C	15: 98,313,380 (GRCm38)	M57V	probably damaging	Het
Olfr469	A	T	7: 107,822,922 (GRCm38)	C182*	probably null	Het
Pam	A	T	1: 97,842,247 (GRCm38)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884 (GRCm38)	K864R	probably damaging	Het
Plcl2	A	G	17: 50,608,468 (GRCm38)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157 (GRCm38)	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438 (GRCm38)	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844 (GRCm38)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602 (GRCm38)	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467 (GRCm38)	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057 (GRCm38)	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008 (GRCm38)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484 (GRCm38)		probably null	Het
Rfc1	A	T	5: 65,275,426 (GRCm38)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957 (GRCm38)	D351G	probably benign	Het
Serpinb9g	T	C	13: 33,495,167 (GRCm38)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266 (GRCm38)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404 (GRCm38)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502 (GRCm38)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239 (GRCm38)	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346 (GRCm38)	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901 (GRCm38)	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772 (GRCm38)	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186 (GRCm38)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563 (GRCm38)	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758 (GRCm38)	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885 (GRCm38)	L87P	probably damaging	Het
Tmem55a	T	A	4: 14,912,477 (GRCm38)	Y195*	probably null	Het
Tmprss11e	T	A	5: 86,709,480 (GRCm38)	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582 (GRCm38)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511 (GRCm38)	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773 (GRCm38)	V482I	probably benign	Het
Wdr63	T	C	3: 146,055,618 (GRCm38)	D661G	probably benign	Het
Zer1	T	C	2: 30,101,484 (GRCm38)		probably null	Het
Zfp503	T	C	14: 21,986,011 (GRCm38)	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762 (GRCm38)	C198S	possibly damaging	Het
Zfyve26	C	T	12: 79,287,807 (GRCm38)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531 (GRCm38)	V459A	probably damaging	Het

Other mutations in Cth

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Cth	APN	3	157,905,167 (GRCm38)	missense	probably damaging	0.99
IGL01744:Cth	APN	3	157,924,935 (GRCm38)	missense	probably benign
IGL03128:Cth	APN	3	157,921,035 (GRCm38)	missense	probably damaging	1.00
R0477:Cth	UTSW	3	157,905,175 (GRCm38)	missense	probably damaging	1.00
R0659:Cth	UTSW	3	157,920,115 (GRCm38)	splice site	probably benign
R1699:Cth	UTSW	3	157,907,436 (GRCm38)	missense	probably damaging	1.00
R1724:Cth	UTSW	3	157,913,727 (GRCm38)	missense	probably damaging	1.00
R1744:Cth	UTSW	3	157,906,268 (GRCm38)	missense	probably damaging	0.99
R3822:Cth	UTSW	3	157,918,499 (GRCm38)	missense	probably benign	0.27
R3937:Cth	UTSW	3	157,920,040 (GRCm38)	missense	possibly damaging	0.79
R3982:Cth	UTSW	3	157,913,697 (GRCm38)	nonsense	probably null
R4342:Cth	UTSW	3	157,924,976 (GRCm38)	missense	probably damaging	1.00
R5436:Cth	UTSW	3	157,894,826 (GRCm38)	missense	probably benign
R8348:Cth	UTSW	3	157,925,020 (GRCm38)	missense	probably benign	0.19
R8448:Cth	UTSW	3	157,925,020 (GRCm38)	missense	probably benign	0.19
R9441:Cth	UTSW	3	157,910,938 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACTGCTGAGCCATTTCACCAG -3'
(R):5'- TATAAGCGCCAAAGTCCAGAAG -3'

Sequencing Primer
(F):5'- GCCCAAGAGCCTTCATTTTTCAAAG -3'
(R):5'- GCCAAAGTCCAGAAGGTTTTAGCC -3'

Posted On

2019-10-07