Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Ahcyl1'

33905

Institutional Source

Beutler Lab

Gene Symbol

Ahcyl1

Ensembl Gene

ENSMUSG00000027893

Gene Name

S-adenosylhomocysteine hydrolase-like 1

Synonyms

Ahcy-rs3, 1110034F20Rik, DCAL, IRBIT

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0226 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107663118-107696560 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 107670270 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 180 (C180*)

Gene Model

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

AlphaFold

Q80SW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000029490
AA Change: V278D

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

SMART Domains

Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: V278D

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

noncoding transcript
Transcript: ENSMUST00000137583

Predicted Effect

probably null
Transcript: ENSMUST00000138091
AA Change: C180*

SMART Domains

Protein: ENSMUSP00000117909
Gene: ENSMUSG00000027893
AA Change: C180*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151935

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153530

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Ablim1	A	T	19: 57,043,870	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kcnh1	G	A	1: 192,276,804	W222*	probably null	Het
Kcnh1	G	T	1: 192,276,805	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Tnfaip3	T	C	10: 19,002,747	K771R	probably damaging	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	Het

Other mutations in Ahcyl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Ahcyl1	APN	3	107667694	missense	probably damaging	1.00
IGL02957:Ahcyl1	APN	3	107667642	missense	probably damaging	1.00
R0670:Ahcyl1	UTSW	3	107671165	missense	probably damaging	1.00
R1537:Ahcyl1	UTSW	3	107696189	missense	probably benign
R1779:Ahcyl1	UTSW	3	107674103	missense	probably benign
R2355:Ahcyl1	UTSW	3	107670217	missense	probably damaging	1.00
R2369:Ahcyl1	UTSW	3	107670240	missense	probably damaging	1.00
R4689:Ahcyl1	UTSW	3	107665518	nonsense	probably null
R4712:Ahcyl1	UTSW	3	107667231	unclassified	probably benign
R4721:Ahcyl1	UTSW	3	107669917	missense	possibly damaging	0.89
R4996:Ahcyl1	UTSW	3	107668287	missense	probably damaging	1.00
R5289:Ahcyl1	UTSW	3	107669890	critical splice donor site	probably null
R6692:Ahcyl1	UTSW	3	107675085	missense	probably damaging	1.00
R6881:Ahcyl1	UTSW	3	107668109	missense	probably damaging	1.00
R7502:Ahcyl1	UTSW	3	107671197	nonsense	probably null
R7853:Ahcyl1	UTSW	3	107668288	missense	probably benign	0.18
R7895:Ahcyl1	UTSW	3	107669151	missense	probably damaging	0.99
R8055:Ahcyl1	UTSW	3	107668731	missense	probably benign	0.00
R8892:Ahcyl1	UTSW	3	107672062	missense	probably benign
R9351:Ahcyl1	UTSW	3	107667695	missense	probably damaging	1.00
R9423:Ahcyl1	UTSW	3	107671160	missense	probably damaging	1.00
R9433:Ahcyl1	UTSW	3	107668329	missense	probably damaging	0.99
R9481:Ahcyl1	UTSW	3	107672072	nonsense	probably null
R9522:Ahcyl1	UTSW	3	107672082	missense	probably damaging	0.99
R9632:Ahcyl1	UTSW	3	107671178	missense	possibly damaging	0.93
R9710:Ahcyl1	UTSW	3	107671178	missense	possibly damaging	0.93
R9800:Ahcyl1	UTSW	3	107670272	missense	probably damaging	1.00
Z1177:Ahcyl1	UTSW	3	107673435	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTCAGGCTGTGGAAACAGACAAG -3'
(R):5'- TGCTGCCCTAAGGTTACAATGCTC -3'

Sequencing Primer
(F):5'- ATCACTGTGAAGTGGGCTCC -3'
(R):5'- GTTTCCAAAGAACTTCTGGGC -3'

Posted On

2013-05-09