Incidental Mutation 'IGL02023:Ahcyl1'
ID184039
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ahcyl1
Ensembl Gene ENSMUSG00000027893
Gene NameS-adenosylhomocysteine hydrolase-like 1
SynonymsAhcy-rs3, 1110034F20Rik, DCAL, IRBIT
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02023
Quality Score
Status
Chromosome3
Chromosomal Location107663118-107696560 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107667694 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 444 (N444K)
Ref Sequence ENSEMBL: ENSMUSP00000029490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029490] [ENSMUST00000153623]
Predicted Effect probably damaging
Transcript: ENSMUST00000029490
AA Change: N444K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029490
Gene: ENSMUSG00000027893
AA Change: N444K

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 noncoding transcript
Transcript: ENSMUST00000137583
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 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

DomainStartEndE-ValueType
low complexity region 14 40 N/A INTRINSIC
Pfam:AdoHcyase 56 210 4.7e-71 PFAM
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,063,116 K833E probably benign Het
Adam29 T C 8: 55,872,484 I312V probably benign Het
Adcy8 T A 15: 64,822,220 I403F probably damaging Het
Ang4 T C 14: 51,764,054 probably benign Het
Atf6b T C 17: 34,651,867 V401A possibly damaging Het
Atp7a A T X: 106,094,982 I604F probably damaging Het
Cd151 T C 7: 141,470,457 Y202H probably damaging Het
Cd99l2 A T X: 71,449,946 N64K possibly damaging Het
Cog7 C T 7: 121,943,777 probably null Het
Ddx58 A G 4: 40,216,487 Y504H possibly damaging Het
Decr2 A T 17: 26,087,380 M94K probably benign Het
Dock11 A T X: 35,968,769 H188L probably benign Het
Dscam T C 16: 96,801,197 S682G probably benign Het
Fam126b G A 1: 58,530,115 A435V possibly damaging Het
Gja3 G T 14: 57,035,679 P412Q probably damaging Het
Glrb T C 3: 80,850,955 N333D probably benign Het
Gm11639 A T 11: 104,721,432 probably benign Het
Gpr65 T A 12: 98,275,868 V260D probably benign Het
Hormad1 A G 3: 95,578,293 E264G possibly damaging Het
Hsph1 T C 5: 149,633,859 R46G probably damaging Het
Iars A G 13: 49,688,249 Y71C probably damaging Het
Lsg1 T C 16: 30,585,676 H35R probably damaging Het
Mfge8 C T 7: 79,145,237 probably benign Het
Mgat4c T A 10: 102,378,184 Y9* probably null Het
Mpdz A T 4: 81,329,529 I1074N probably damaging Het
Muc19 T C 15: 91,888,259 noncoding transcript Het
Nbea A T 3: 55,681,016 M2434K probably damaging Het
Ncoa2 A G 1: 13,174,854 L540P probably damaging Het
Nhsl2 A G X: 102,078,252 R554G probably damaging Het
Npdc1 T A 2: 25,408,020 probably benign Het
Olfr171 A T 16: 19,624,408 S231T probably benign Het
Osbpl10 T A 9: 115,226,722 V654D probably damaging Het
Plxna1 C A 6: 89,357,332 G105V possibly damaging Het
Pnmal2 T C 7: 16,945,691 V200A probably damaging Het
Ppard A G 17: 28,298,897 H313R probably benign Het
Rasgrp4 T C 7: 29,138,910 L103P probably damaging Het
Ripk4 A T 16: 97,755,231 L104Q probably damaging Het
Setd2 T C 9: 110,594,636 V2253A probably benign Het
Setdb2 A G 14: 59,431,158 S43P probably damaging Het
Stab2 C A 10: 86,871,831 G1742V possibly damaging Het
Timm23 A G 14: 32,193,847 probably benign Het
Ttn T C 2: 76,785,655 N14902S possibly damaging Het
Ush2a A G 1: 188,733,514 T2760A probably benign Het
Vmn2r25 T C 6: 123,839,429 N398D probably damaging Het
Other mutations in Ahcyl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Z1177:Ahcyl1 UTSW 3 107673435 critical splice donor site probably null
Posted On2014-05-07