Mutagenetix > Incidental Mutation

Incidental Mutation 'R6114:Ahcy'

484995

Institutional Source

Beutler Lab

Gene Symbol

Ahcy

Ensembl Gene

ENSMUSG00000027597

Gene Name

S-adenosylhomocysteine hydrolase

Synonyms

CuBP, SAHH

MMRRC Submission

044263-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6114 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155059310-155074497 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155062159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 386 (L386R)

Ref Sequence

ENSEMBL: ENSMUSP00000061851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054607] [ENSMUST00000137242]

AlphaFold

P50247

Predicted Effect

probably damaging
Transcript: ENSMUST00000054607
AA Change: L386R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000061851
Gene: ENSMUSG00000027597
AA Change: L386R

Domain	Start	End	E-Value	Type
AdoHcyase	6	431	N/A	SMART
AdoHcyase_NAD	191	352	1.49e-118	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137242

SMART Domains

Protein: ENSMUSP00000116774
Gene: ENSMUSG00000027597

Domain	Start	End	E-Value	Type
Pfam:AdoHcyase	5	95	1.4e-43	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

94% (60/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: See the a^x allele for a deletion that includes the Ahcy gene. [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
Adamdec1	C	A	14: 68,571,803 (GRCm38)	V237L	probably benign	Het
Aff1	T	C	5: 103,842,297 (GRCm38)	S878P	probably damaging	Het
Ank2	T	C	3: 127,011,051 (GRCm38)	N607D	probably damaging	Het
Arid5b	T	C	10: 68,097,744 (GRCm38)	D776G	possibly damaging	Het
Art4	T	A	6: 136,857,213 (GRCm38)	T11S	unknown	Het
Blm	T	C	7: 80,513,487 (GRCm38)	T39A	probably damaging	Het
Cabin1	T	A	10: 75,747,971 (GRCm38)	M221L	probably benign	Het
Cacna1c	T	C	6: 118,596,140 (GRCm38)	T1675A	probably benign	Het
Cacnb2	A	T	2: 14,975,201 (GRCm38)	H285L	possibly damaging	Het
Cchcr1	A	G	17: 35,525,330 (GRCm38)	E339G	probably damaging	Het
Cd14	A	G	18: 36,725,953 (GRCm38)	W150R	probably damaging	Het
Cep162	A	G	9: 87,203,710 (GRCm38)	I1187T	probably benign	Het
Cntnap4	A	G	8: 112,841,753 (GRCm38)	H807R	probably damaging	Het
Copb1	T	A	7: 114,246,801 (GRCm38)	H178L	probably benign	Het
Cpxm2	A	G	7: 132,154,306 (GRCm38)	V103A	probably benign	Het
Egfr	A	G	11: 16,904,374 (GRCm38)	T849A	possibly damaging	Het
Endou	T	A	15: 97,713,876 (GRCm38)	K294*	probably null	Het
Fam208b	G	A	13: 3,590,081 (GRCm38)	T352M	probably damaging	Het
Gm884	T	A	11: 103,617,791 (GRCm38)		probably benign	Het
Hoxd9	A	G	2: 74,699,365 (GRCm38)	N322D	probably damaging	Het
Hsph1	C	A	5: 149,627,387 (GRCm38)	V416L	possibly damaging	Het
Igkv4-78	T	A	6: 69,059,759 (GRCm38)	T97S	possibly damaging	Het
Itga10	G	T	3: 96,649,035 (GRCm38)	C162F	probably damaging	Het
Lmod2	A	G	6: 24,603,692 (GRCm38)	E222G	probably damaging	Het
Lpar5	A	G	6: 125,081,676 (GRCm38)	N120S	probably damaging	Het
Lrrk2	A	G	15: 91,747,826 (GRCm38)	I1318V	probably benign	Het
Lst1	T	C	17: 35,188,360 (GRCm38)	T11A	possibly damaging	Het
Mfn1	C	A	3: 32,563,836 (GRCm38)	A106D	probably damaging	Het
Ms4a12	G	T	19: 11,215,290 (GRCm38)	N227K	probably benign	Het
Nr1h4	T	A	10: 89,478,816 (GRCm38)	N273Y	possibly damaging	Het
Nrd1	A	T	4: 109,044,585 (GRCm38)	K617M	probably damaging	Het
Olfr355	A	T	2: 36,927,689 (GRCm38)	C142S	possibly damaging	Het
Olfr516	A	T	7: 108,845,386 (GRCm38)	M208K	possibly damaging	Het
Olfr771	T	A	10: 129,160,333 (GRCm38)	H217L	probably benign	Het
Pcdhgc3	C	G	18: 37,807,872 (GRCm38)	T442R	probably benign	Het
Pcnx2	T	C	8: 125,773,947 (GRCm38)	N1468S	probably damaging	Het
Pde2a	A	T	7: 101,511,112 (GRCm38)		probably null	Het
Pitx2	C	G	3: 129,204,413 (GRCm38)		probably null	Het
Reck	T	A	4: 43,922,895 (GRCm38)	I390N	probably damaging	Het
Rora	A	G	9: 69,371,323 (GRCm38)	N254S	probably benign	Het
Samd4b	A	G	7: 28,522,792 (GRCm38)		probably null	Het
Scn8a	A	G	15: 101,040,596 (GRCm38)	T1949A	probably damaging	Het
Slc22a15	A	T	3: 101,860,852 (GRCm38)	Y346*	probably null	Het
Slc24a5	A	G	2: 125,083,092 (GRCm38)	T218A	probably benign	Het
Slc38a10	G	A	11: 120,129,312 (GRCm38)	Q305*	probably null	Het
Slc45a4	G	A	15: 73,605,604 (GRCm38)	P28S	probably damaging	Het
Smyd5	A	T	6: 85,440,262 (GRCm38)		probably benign	Het
Sox8	T	C	17: 25,567,520 (GRCm38)	D403G	probably damaging	Het
Stx7	A	G	10: 24,184,985 (GRCm38)		probably null	Het
Svil	T	C	18: 5,108,639 (GRCm38)	S1522P	probably damaging	Het
Sycp2	G	C	2: 178,348,245 (GRCm38)	R1403G	probably benign	Het
Tcf25	A	T	8: 123,384,375 (GRCm38)	K192M	probably damaging	Het
Tecpr1	C	T	5: 144,204,640 (GRCm38)	G804S	possibly damaging	Het
Teddm1a	C	G	1: 153,891,868 (GRCm38)	S26C	probably damaging	Het
Usp13	C	T	3: 32,854,669 (GRCm38)	P155S	probably damaging	Het
Usp17lb	T	A	7: 104,840,364 (GRCm38)	D451V	possibly damaging	Het
Vmn1r173	A	G	7: 23,702,829 (GRCm38)	N163S	possibly damaging	Het
Vmn2r103	G	T	17: 19,812,325 (GRCm38)	C787F	probably damaging	Het
Vmn2r106	G	A	17: 20,268,376 (GRCm38)	P587L	probably benign	Het
Wdr24	C	T	17: 25,824,605 (GRCm38)	H134Y	probably benign	Het
Zbtb40	T	A	4: 136,988,691 (GRCm38)	I988F	probably damaging	Het
Zfp536	A	T	7: 37,479,736 (GRCm38)	I84N	probably damaging	Het
Zfp651	T	A	9: 121,765,595 (GRCm38)	F540Y	probably damaging	Het

Other mutations in Ahcy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01105:Ahcy	APN	2	155,067,361 (GRCm38)	missense	probably benign	0.26
IGL03001:Ahcy	APN	2	155,064,828 (GRCm38)	missense	probably damaging	1.00
F5770:Ahcy	UTSW	2	155,064,921 (GRCm38)	nonsense	probably null
R1226:Ahcy	UTSW	2	155,064,897 (GRCm38)	missense	probably benign	0.01
R1572:Ahcy	UTSW	2	155,068,931 (GRCm38)	missense	probably benign	0.06
R1741:Ahcy	UTSW	2	155,064,234 (GRCm38)	missense	probably benign	0.29
R1879:Ahcy	UTSW	2	155,064,152 (GRCm38)	critical splice donor site	probably null
R1898:Ahcy	UTSW	2	155,062,253 (GRCm38)	missense	probably benign	0.20
R4743:Ahcy	UTSW	2	155,068,968 (GRCm38)	missense	probably damaging	1.00
R4861:Ahcy	UTSW	2	155,060,516 (GRCm38)	missense	probably benign	0.05
R4861:Ahcy	UTSW	2	155,060,516 (GRCm38)	missense	probably benign	0.05
R7107:Ahcy	UTSW	2	155,068,973 (GRCm38)	missense	probably damaging	0.98
R9022:Ahcy	UTSW	2	155,068,859 (GRCm38)	missense	probably damaging	0.99
V7582:Ahcy	UTSW	2	155,064,921 (GRCm38)	nonsense	probably null
X0067:Ahcy	UTSW	2	155,068,952 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTAAGGAGAGAACTCTTGCC -3'
(R):5'- TAAAGAATGGGCGCCGCATC -3'

Sequencing Primer
(F):5'- CCTTCACTTTACAGATGAGGAACGG -3'
(R):5'- CATCATCTTGCTGGCTGAAGGC -3'

Posted On

2017-08-16