Mutagenetix > Incidental Mutation

Incidental Mutation 'R8348:Cth'

645341

Institutional Source

Beutler Lab

Gene Symbol

Cth

Ensembl Gene

ENSMUSG00000028179

Gene Name

cystathionine gamma lyase

Synonyms

CSE, 0610010I13Rik

MMRRC Submission

067732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8348 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157599885-157630714 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157630657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 4 (D4G)

Ref Sequence

ENSEMBL: ENSMUSP00000113672 (fasta)

Gene Model

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

AlphaFold

Q8VCN5

Predicted Effect

probably benign
Transcript: ENSMUST00000118539
AA Change: D4G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113672
Gene: ENSMUSG00000028179
AA Change: D4G

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
F12	T	A	13: 55,566,301 (GRCm39)	Y497F	probably benign	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gm21103	C	A	14: 17,482,861 (GRCm39)	R180L	probably benign	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Ubc	C	T	5: 125,465,095 (GRCm39)	M77I	probably damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	probably damaging	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
R0659:Cth	UTSW	3	157,625,752 (GRCm39)	splice site	probably benign
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
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'- TTAACTGAAAATCGCAGAGAGC -3'
(R):5'- CCTATCCTGCAGACAAAGGG -3'

Sequencing Primer
(F):5'- AGAGAGCGCATGTCCCGAG -3'
(R):5'- TATCCTGCAGACAAAGGGGATCTC -3'

Posted On

2020-09-02