Incidental Mutation 'R7853:Ahcyl1'
ID607047
Institutional Source Beutler Lab
Gene Symbol Ahcyl1
Ensembl Gene ENSMUSG00000027893
Gene NameS-adenosylhomocysteine hydrolase-like 1
SynonymsAhcy-rs3, 1110034F20Rik, DCAL, IRBIT
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7853 (G1)
Quality Score225.009
Status Not validated
Chromosome3
Chromosomal Location107663118-107696560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 107668288 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 394 (V394L)
Ref Sequence ENSEMBL: ENSMUSP00000029490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029490] [ENSMUST00000153623]
Predicted Effect probably benign
Transcript: ENSMUST00000029490
AA Change: V394L

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: V394L

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,473,680 I26T probably damaging Het
Aadacl4 G T 4: 144,618,022 A123S probably benign Het
Adamts20 A C 15: 94,345,990 C619G probably damaging Het
Ankrd17 A C 5: 90,238,966 L2378V possibly damaging Het
B3gnt3 T C 8: 71,692,713 Y337C probably damaging Het
Bcl10 A G 3: 145,924,511 K18R possibly damaging Het
Calcr G A 6: 3,707,499 A267V probably benign Het
Ces1d C T 8: 93,175,067 G425S probably benign Het
Col1a1 G T 11: 94,947,679 R899L unknown Het
Commd1 C T 11: 22,956,532 R168H possibly damaging Het
Cps1 T C 1: 67,174,481 S791P possibly damaging Het
Ctsj T A 13: 61,004,070 I58F probably damaging Het
Cyp2j5 T A 4: 96,641,419 K238N probably benign Het
Dlgap4 A G 2: 156,705,882 D423G probably benign Het
Egln1 T C 8: 124,948,517 N180D probably benign Het
Ehd1 T C 19: 6,277,195 F74S probably damaging Het
Ext1 G A 15: 53,107,485 A350V probably damaging Het
Fam186b T A 15: 99,280,747 I233F probably damaging Het
Fam193a T G 5: 34,440,129 N91K probably benign Het
Far1 T A 7: 113,554,148 N329K probably damaging Het
Fhad1 A G 4: 141,909,823 S1111P probably damaging Het
Fhl2 A G 1: 43,141,824 S69P probably damaging Het
Flg2 C A 3: 93,220,747 P2322Q unknown Het
Flvcr1 A G 1: 191,025,646 Y108H probably damaging Het
Fos T A 12: 85,476,018 S235T probably benign Het
Foxf1 T A 8: 121,084,699 S101T probably damaging Het
Gfer C A 17: 24,694,285 D198Y probably damaging Het
Ggps1 T C 13: 14,054,449 I50V probably benign Het
Gkn2 A G 6: 87,378,273 T155A probably benign Het
Gm49333 T A 16: 20,644,260 probably null Het
Gna12 C T 5: 140,760,694 C332Y probably damaging Het
H2-Ke6 T G 17: 34,027,437 D117A probably benign Het
Hc T A 2: 35,010,033 Y1096F probably damaging Het
Hoxa3 G A 6: 52,170,287 probably benign Het
Ifi206 A T 1: 173,471,534 Y835* probably null Het
Ighv13-2 T G 12: 114,357,924 E65A probably damaging Het
Kif5a A T 10: 127,235,668 Y770* probably null Het
Lfng A G 5: 140,607,629 S72G probably benign Het
Lipo2 C T 19: 33,759,944 probably benign Het
Lnpep C T 17: 17,562,847 S564N probably benign Het
Mfhas1 T A 8: 35,589,871 L500* probably null Het
Mllt6 G A 11: 97,670,316 V277I probably benign Het
Mroh5 C T 15: 73,791,340 D192N probably benign Het
Myo1f T A 17: 33,576,698 V106D probably damaging Het
Mypn T A 10: 63,145,873 I643F probably benign Het
Nup188 A G 2: 30,323,563 N669D possibly damaging Het
Olfr126 C G 17: 37,850,823 T77R probably damaging Het
Olfr154 T C 2: 85,664,345 T30A probably benign Het
Olfr281 T C 15: 98,456,985 V225A probably benign Het
Olfr458 A T 6: 42,460,639 C127S probably damaging Het
Osbpl10 A G 9: 115,207,658 T241A probably damaging Het
Peg3 C T 7: 6,708,840 E1128K possibly damaging Het
Plch1 C A 3: 63,773,647 M186I probably benign Het
Pon3 A C 6: 5,236,911 L152R probably damaging Het
Prr36 G A 8: 4,213,905 P587L unknown Het
Psma2 T A 13: 14,625,247 I192N probably damaging Het
Rbm11 T C 16: 75,593,035 F30L probably damaging Het
Rpap3 G A 15: 97,678,418 A622V possibly damaging Het
Scgb2b11 T A 7: 32,209,382 N98Y probably damaging Het
Siglec1 A G 2: 131,081,292 L511P probably damaging Het
Sirpb1c C T 3: 15,832,992 V228M probably damaging Het
Smpd4 T A 16: 17,642,741 Y804N probably damaging Het
Sult6b2 T C 6: 142,801,798 D75G not run Het
Sycp3 A C 10: 88,466,506 K119N probably damaging Het
Syne2 T C 12: 76,031,504 L4703P probably damaging Het
Tex12 C G 9: 50,559,223 L20F possibly damaging Het
Them5 T A 3: 94,343,296 Y55* probably null Het
Tmem43 A T 6: 91,481,986 D213V probably benign Het
Tnfrsf10b A C 14: 69,767,790 Q44P unknown Het
Trbv2 A T 6: 41,047,902 Q84L probably benign Het
Trim2 C T 3: 84,305,230 probably benign Het
Trim36 A G 18: 46,172,491 V475A probably benign Het
Ttbk1 C A 17: 46,447,343 E788D probably benign Het
Ttn T C 2: 76,713,282 D33120G probably damaging Het
Ttn T A 2: 76,745,912 N24879I probably damaging Het
Ube4a T A 9: 44,953,010 Q76L probably benign Het
Vmn2r27 T A 6: 124,192,021 I717F probably damaging Het
Vmn2r45 T C 7: 8,482,988 K434E possibly damaging Het
Vta1 T C 10: 14,655,717 T305A probably damaging Het
Zfp354c TCACACTCGGCACA TCACA 11: 50,815,240 probably benign Het
Other mutations in Ahcyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02023:Ahcyl1 APN 3 107667694 missense probably damaging 1.00
IGL02957:Ahcyl1 APN 3 107667642 missense probably damaging 1.00
R0226:Ahcyl1 UTSW 3 107670270 nonsense probably null
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
R7895:Ahcyl1 UTSW 3 107669151 missense probably damaging 0.99
R8055:Ahcyl1 UTSW 3 107668731 missense probably benign 0.00
Z1177:Ahcyl1 UTSW 3 107673435 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TACCTCTGCTAGAAGGACGACC -3'
(R):5'- TTTCTACAGTGTGTGCGAGC -3'

Sequencing Primer
(F):5'- CAGATGACATGGTCCACCTGAG -3'
(R):5'- GCGAGCTCTTTAATGGTTAGCAAAC -3'
Posted On2019-12-20