Mutagenetix > Incidental Mutation

Incidental Mutation 'R9351:Ahcyl1'

708054

Institutional Source

Beutler Lab

Gene Symbol

Ahcyl1

Ensembl Gene

ENSMUSG00000027893

Gene Name

S-adenosylhomocysteine hydrolase-like 1

Synonyms

Ahcy-rs3, DCAL, IRBIT, 1110034F20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107570436-107603876 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107575011 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 444 (N444S)

Ref Sequence

ENSEMBL: ENSMUSP00000029490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029490] [ENSMUST00000153623]

AlphaFold

Q80SW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029490
AA Change: N444S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: N444S

Domain	Start	End	E-Value	Type
Blast:AdoHcyase	10	40	1e-8	BLAST
low complexity region	61	87	N/A	INTRINSIC
AdoHcyase	104	529	3.29e-266	SMART
AdoHcyase_NAD	289	450	6.69e-103	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138091

SMART Domains

Protein: ENSMUSP00000117909
Gene: ENSMUSG00000027893

Domain	Start	End	E-Value	Type
low complexity region	3	26	N/A	INTRINSIC
Pfam:AdoHcyase	43	168	2e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153623

SMART Domains

Protein: ENSMUSP00000121510
Gene: ENSMUSG00000027893

Domain	Start	End	E-Value	Type
low complexity region	14	40	N/A	INTRINSIC
Pfam:AdoHcyase	56	210	4.7e-71	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with inositol 1,4,5-trisphosphate receptor, type 1 and may be involved in the conversion of S-adenosyl-L-homocysteine to L-homocysteine and adenosine. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
PHENOTYPE: Mice homozygous for a knock-out allele display abnormal exocrine pancreas physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,068 (GRCm39)	T84A	probably benign	Het
Abca17	G	A	17: 24,510,751 (GRCm39)	S909L	probably benign	Het
Adamtsl3	A	T	7: 82,169,929 (GRCm39)	Y371F	possibly damaging	Het
Adcy9	A	T	16: 4,236,228 (GRCm39)	S394R	probably damaging	Het
Ahnak	A	C	19: 8,985,232 (GRCm39)	D2172A	probably damaging	Het
Arhgef28	C	T	13: 98,130,576 (GRCm39)	D421N	probably benign	Het
Brd1	T	A	15: 88,614,307 (GRCm39)	E196V	possibly damaging	Het
Cabs1	A	G	5: 88,128,300 (GRCm39)	D317G	probably damaging	Het
Ccdc96	T	C	5: 36,642,069 (GRCm39)	I25T	unknown	Het
Clgn	A	G	8: 84,153,218 (GRCm39)	R607G	possibly damaging	Het
Clp1	T	C	2: 84,554,195 (GRCm39)	K325E	probably benign	Het
Dcun1d1	A	T	3: 35,975,185 (GRCm39)	I52K	probably benign	Het
Dync2h1	G	A	9: 7,176,911 (GRCm39)	T16I	probably damaging	Het
Eif4a3l1	A	T	6: 136,306,771 (GRCm39)	I411F	probably benign	Het
Epb41l5	A	G	1: 119,477,639 (GRCm39)	F711L	probably benign	Het
Esr1	G	A	10: 4,696,763 (GRCm39)	W204*	probably null	Het
Fat2	A	G	11: 55,172,127 (GRCm39)	L2862P	probably damaging	Het
Frmd3	A	G	4: 74,054,068 (GRCm39)	E159G	probably damaging	Het
Gsto2	T	A	19: 47,874,608 (GRCm39)	C243S	possibly damaging	Het
Heg1	A	G	16: 33,545,867 (GRCm39)	H206R	probably benign	Het
Ifi203	A	G	1: 173,750,133 (GRCm39)	V862A	probably benign	Het
Ippk	C	T	13: 49,615,107 (GRCm39)	H497Y	probably benign	Het
Irf5	A	T	6: 29,531,317 (GRCm39)	N61I	possibly damaging	Het
Iws1	G	A	18: 32,213,213 (GRCm39)	E214K	possibly damaging	Het
Kcnj12	C	T	11: 60,960,673 (GRCm39)	H324Y	probably damaging	Het
Kdm2a	C	T	19: 4,393,141 (GRCm39)	D405N		Het
Lars2	A	G	9: 123,265,366 (GRCm39)	Q474R	probably benign	Het
Lctl	T	C	9: 64,040,473 (GRCm39)	F472S	possibly damaging	Het
Map4k2	T	C	19: 6,401,223 (GRCm39)	S590P	probably benign	Het
Mcf2l	G	T	8: 13,050,757 (GRCm39)	L337F	possibly damaging	Het
Mvp	A	G	7: 126,595,435 (GRCm39)	V225A	probably damaging	Het
Nfat5	T	A	8: 108,065,910 (GRCm39)	D241E	probably damaging	Het
Or6n2	T	A	1: 173,897,021 (GRCm39)	D52E	probably benign	Het
Pagr1a	A	T	7: 126,616,073 (GRCm39)	H7Q	probably damaging	Het
Parp8	G	T	13: 117,000,781 (GRCm39)	Q787K	probably damaging	Het
Pcdhb2	C	A	18: 37,429,369 (GRCm39)	N90K	probably damaging	Het
Pde6h	A	G	6: 136,936,332 (GRCm39)	K25R	probably benign	Het
Prr35	G	A	17: 26,166,118 (GRCm39)	Q390*	probably null	Het
Psd3	C	A	8: 68,413,301 (GRCm39)	A410S	probably benign	Het
Pus10	A	G	11: 23,617,311 (GRCm39)	N8S	probably benign	Het
Rnf115	T	C	3: 96,695,994 (GRCm39)	L260S	probably damaging	Het
Sdsl	A	T	5: 120,601,159 (GRCm39)	Y38N	probably benign	Het
Sf1	A	G	19: 6,415,694 (GRCm39)	D11G	probably damaging	Het
Stxbp5l	A	G	16: 36,936,047 (GRCm39)	Y1177H	probably damaging	Het
Taar2	G	A	10: 23,816,900 (GRCm39)	V147I	probably benign	Het
Tmed3	A	T	9: 89,584,980 (GRCm39)	F92I	possibly damaging	Het
Tmprss15	T	C	16: 78,832,086 (GRCm39)	T357A	probably damaging	Het
Trbv14	A	T	6: 41,112,428 (GRCm39)	D75V	probably damaging	Het
Vmn1r30	A	G	6: 58,412,262 (GRCm39)	V190A	probably benign	Het
Vmn2r115	A	T	17: 23,578,482 (GRCm39)	I652F	probably benign	Het
Vmn2r26	A	T	6: 124,016,333 (GRCm39)	M266L	probably benign	Het
Wdr17	T	C	8: 55,143,057 (GRCm39)	I198V	probably benign	Het
Wdr27	G	A	17: 15,128,833 (GRCm39)	A540V	possibly damaging	Het
Zfp26	A	C	9: 20,349,447 (GRCm39)	Y372*	probably null	Het
Zfp286	A	G	11: 62,670,801 (GRCm39)	V424A	probably damaging	Het

Other mutations in Ahcyl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Ahcyl1	APN	3	107,575,010 (GRCm39)	missense	probably damaging	1.00
IGL02957:Ahcyl1	APN	3	107,574,958 (GRCm39)	missense	probably damaging	1.00
R0226:Ahcyl1	UTSW	3	107,577,586 (GRCm39)	nonsense	probably null
R0670:Ahcyl1	UTSW	3	107,578,481 (GRCm39)	missense	probably damaging	1.00
R1537:Ahcyl1	UTSW	3	107,603,505 (GRCm39)	missense	probably benign
R1779:Ahcyl1	UTSW	3	107,581,419 (GRCm39)	missense	probably benign
R2355:Ahcyl1	UTSW	3	107,577,533 (GRCm39)	missense	probably damaging	1.00
R2369:Ahcyl1	UTSW	3	107,577,556 (GRCm39)	missense	probably damaging	1.00
R4689:Ahcyl1	UTSW	3	107,572,834 (GRCm39)	nonsense	probably null
R4712:Ahcyl1	UTSW	3	107,574,547 (GRCm39)	unclassified	probably benign
R4721:Ahcyl1	UTSW	3	107,577,233 (GRCm39)	missense	possibly damaging	0.89
R4996:Ahcyl1	UTSW	3	107,575,603 (GRCm39)	missense	probably damaging	1.00
R5289:Ahcyl1	UTSW	3	107,577,206 (GRCm39)	critical splice donor site	probably null
R6692:Ahcyl1	UTSW	3	107,582,401 (GRCm39)	missense	probably damaging	1.00
R6881:Ahcyl1	UTSW	3	107,575,425 (GRCm39)	missense	probably damaging	1.00
R7502:Ahcyl1	UTSW	3	107,578,513 (GRCm39)	nonsense	probably null
R7853:Ahcyl1	UTSW	3	107,575,604 (GRCm39)	missense	probably benign	0.18
R7895:Ahcyl1	UTSW	3	107,576,467 (GRCm39)	missense	probably damaging	0.99
R8055:Ahcyl1	UTSW	3	107,576,047 (GRCm39)	missense	probably benign	0.00
R8892:Ahcyl1	UTSW	3	107,579,378 (GRCm39)	missense	probably benign
R9423:Ahcyl1	UTSW	3	107,578,476 (GRCm39)	missense	probably damaging	1.00
R9433:Ahcyl1	UTSW	3	107,575,645 (GRCm39)	missense	probably damaging	0.99
R9481:Ahcyl1	UTSW	3	107,579,388 (GRCm39)	nonsense	probably null
R9522:Ahcyl1	UTSW	3	107,579,398 (GRCm39)	missense	probably damaging	0.99
R9632:Ahcyl1	UTSW	3	107,578,494 (GRCm39)	missense	possibly damaging	0.93
R9710:Ahcyl1	UTSW	3	107,578,494 (GRCm39)	missense	possibly damaging	0.93
R9800:Ahcyl1	UTSW	3	107,577,588 (GRCm39)	missense	probably damaging	1.00
Z1177:Ahcyl1	UTSW	3	107,580,751 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGAACTTCAGTAACTTAGGCC -3'
(R):5'- AACCTCCGTTTTGCTAAGTGC -3'

Sequencing Primer
(F):5'- CTTCAGTAACTTAGGCCGTAGAAAAG -3'
(R):5'- GTGCATGCACTGTTTCCAG -3'

Posted On

2022-04-18