Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Ahcyl2'

522345

Institutional Source

Beutler Lab

Gene Symbol

Ahcyl2

Ensembl Gene

ENSMUSG00000029772

Gene Name

S-adenosylhomocysteine hydrolase-like 2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.693) question?

Stock #

R6531 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29768011-29912310 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 29886162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 359 (M359R)

Ref Sequence

ENSEMBL: ENSMUSP00000110897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064872] [ENSMUST00000102995] [ENSMUST00000115238] [ENSMUST00000115242] [ENSMUST00000125911] [ENSMUST00000128927] [ENSMUST00000134438] [ENSMUST00000143091]

AlphaFold

Q68FL4

Predicted Effect

probably benign
Transcript: ENSMUST00000064872
AA Change: M254R

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: M254R

Domain	Start	End	E-Value	Type
low complexity region	38	68	N/A	INTRINSIC
AdoHcyase	82	507	4.47e-268	SMART
AdoHcyase_NAD	267	428	2.21e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102995
AA Change: M358R

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: M358R

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	35	80	N/A	INTRINSIC
low complexity region	142	172	N/A	INTRINSIC
AdoHcyase	186	611	4.47e-268	SMART
AdoHcyase_NAD	371	532	2.21e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115238
AA Change: M254R

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: M254R

Domain	Start	End	E-Value	Type
low complexity region	38	68	N/A	INTRINSIC
AdoHcyase	82	507	4.47e-268	SMART
AdoHcyase_NAD	267	428	2.21e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115242
AA Change: M359R

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: M359R

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
low complexity region	35	80	N/A	INTRINSIC
low complexity region	143	173	N/A	INTRINSIC
AdoHcyase	187	612	4.47e-268	SMART
AdoHcyase_NAD	372	533	2.21e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125911
AA Change: M150R

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
AA Change: M150R

Domain	Start	End	E-Value	Type
AdoHcyase	1	403	8.07e-243	SMART
AdoHcyase_NAD	163	324	2.21e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128927

SMART Domains

Protein: ENSMUSP00000135633
Gene: ENSMUSG00000029772

Domain	Start	End	E-Value	Type
low complexity region	39	69	N/A	INTRINSIC
Pfam:AdoHcyase	82	223	3.5e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134438

SMART Domains

Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772

Domain	Start	End	E-Value	Type
low complexity region	20	36	N/A	INTRINSIC
low complexity region	56	86	N/A	INTRINSIC
Pfam:AdoHcyase	99	238	1.1e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143091

SMART Domains

Protein: ENSMUSP00000144873
Gene: ENSMUSG00000029772

Domain	Start	End	E-Value	Type
Pfam:AdoHcyase	1	115	2.1e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149816

Meta Mutation Damage Score

0.8487

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homotetramer and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,949,999	E880G	possibly damaging	Het
Acsbg2	T	A	17: 56,846,617	I529F	probably damaging	Het
Aldh5a1	G	T	13: 24,918,564	D305E	probably benign	Het
Catsper2	C	G	2: 121,399,780	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,833,505	Q222*	probably null	Het
Col4a2	T	A	8: 11,408,135	D270E	probably benign	Het
Cux1	T	C	5: 136,275,119	D1401G	probably benign	Het
Cyp3a59	T	A	5: 146,098,217	M235K	probably benign	Het
Dock3	T	C	9: 106,967,216	D895G	probably benign	Het
Dusp27	A	T	1: 166,110,046		probably null	Het
Dync1h1	T	C	12: 110,617,920	F586L	probably damaging	Het
Elmo1	G	T	13: 20,572,446	R568L	possibly damaging	Het
Epb41	T	C	4: 131,957,636	T711A	probably benign	Het
Grm7	T	A	6: 111,358,425	M599K	probably benign	Het
Hivep3	A	T	4: 120,122,876	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,461,006	C115F	probably damaging	Het
Krt78	A	G	15: 101,952,273	Y200H	probably benign	Het
Lamb2	A	T	9: 108,483,726	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,184,353	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,956,343		probably null	Het
Nol6	G	T	4: 41,118,154	P828T	probably benign	Het
Olfr1030	A	G	2: 85,984,307	I156V	probably benign	Het
Olfr1132	A	G	2: 87,635,529	Y73H	probably damaging	Het
Olfr1264	A	G	2: 90,021,457	V203A	probably benign	Het
Olfr344	G	A	2: 36,569,341	V248I	probably damaging	Het
Ovgp1	A	C	3: 105,987,071		probably benign	Het
Pitpnm3	T	A	11: 72,071,487	Q230L	possibly damaging	Het
Pkn1	C	T	8: 83,670,293	V910I	probably benign	Het
Plcb1	T	A	2: 135,325,802		probably null	Het
Ppp1r12c	A	G	7: 4,482,789		probably null	Het
Rassf5	T	A	1: 131,244,814	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,312,979	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,019,395	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,548,638	D691V	probably benign	Het
Speg	T	A	1: 75,422,757	F2283I	probably benign	Het
Synj2	A	G	17: 6,033,839	K267E	probably damaging	Het
Tg	A	T	15: 66,839,362	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,742,083	D380E	probably benign	Het
Trim43b	A	T	9: 89,085,365	L405H	probably damaging	Het
Ttf2	A	G	3: 100,956,260	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,081,586	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,354,407	M21K	probably benign	Het
Wdr35	A	T	12: 8,978,685	Y101F	probably benign	Het
Zfp367	T	C	13: 64,144,250	Y189C	probably damaging	Het

Other mutations in Ahcyl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02966:Ahcyl2	APN	6	29880557	missense	probably benign	0.03
IGL03072:Ahcyl2	APN	6	29906501	splice site	probably benign
IGL03195:Ahcyl2	APN	6	29906769	splice site	probably benign
R0189:Ahcyl2	UTSW	6	29891243	missense	probably benign	0.32
R0395:Ahcyl2	UTSW	6	29886168	missense	probably damaging	1.00
R0555:Ahcyl2	UTSW	6	29890671	critical splice acceptor site	probably benign
R0924:Ahcyl2	UTSW	6	29870628	splice site	probably null
R0930:Ahcyl2	UTSW	6	29870628	splice site	probably null
R1413:Ahcyl2	UTSW	6	29768587	utr 5 prime	probably benign
R1446:Ahcyl2	UTSW	6	29891240	missense	probably damaging	0.96
R1822:Ahcyl2	UTSW	6	29768584	utr 5 prime	probably benign
R1864:Ahcyl2	UTSW	6	29908355	missense	probably damaging	1.00
R1865:Ahcyl2	UTSW	6	29908355	missense	probably damaging	1.00
R3810:Ahcyl2	UTSW	6	29891261	missense	probably benign	0.01
R4429:Ahcyl2	UTSW	6	29894875	missense	probably damaging	1.00
R4932:Ahcyl2	UTSW	6	29890701	missense	probably benign	0.22
R5019:Ahcyl2	UTSW	6	29859739	missense	possibly damaging	0.96
R5032:Ahcyl2	UTSW	6	29768556	utr 5 prime	probably benign
R5396:Ahcyl2	UTSW	6	29859698	intron	probably benign
R5604:Ahcyl2	UTSW	6	29908367	missense	probably damaging	1.00
R5817:Ahcyl2	UTSW	6	29890721	missense	probably damaging	1.00
R5959:Ahcyl2	UTSW	6	29886174	missense	probably damaging	1.00
R6159:Ahcyl2	UTSW	6	29908458	missense	possibly damaging	0.81
R7025:Ahcyl2	UTSW	6	29908421	missense	probably damaging	1.00
R7478:Ahcyl2	UTSW	6	29903267	missense	probably damaging	1.00
R7560:Ahcyl2	UTSW	6	29886140	missense	probably damaging	1.00
R7604:Ahcyl2	UTSW	6	29768556	missense	unknown
R7960:Ahcyl2	UTSW	6	29870627	missense	probably benign	0.39
R7969:Ahcyl2	UTSW	6	29870664	missense	probably damaging	1.00
R8046:Ahcyl2	UTSW	6	29878620	missense	probably damaging	1.00
R8360:Ahcyl2	UTSW	6	29768870	missense	probably benign
R9432:Ahcyl2	UTSW	6	29768875	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- GAGCTTTATTGCCAGGCTGG -3'
(R):5'- GGTGTGATGTGGTTAAACATGAAAC -3'

Sequencing Primer
(F):5'- TCTCTGTATCTGTCTTGTAGGATG -3'
(R):5'- GTGGTTAAACATGAAACAGTTCCAG -3'

Posted On

2018-06-06