Incidental Mutation 'R5396:Ahcyl2'
ID 429662
Institutional Source Beutler Lab
Gene Symbol Ahcyl2
Ensembl Gene ENSMUSG00000029772
Gene Name S-adenosylhomocysteine hydrolase-like 2
Synonyms 4631427C17Rik
MMRRC Submission 044394-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.574) question?
Stock # R5396 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29768378-29912309 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 29859697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064872] [ENSMUST00000102995] [ENSMUST00000115238] [ENSMUST00000115242] [ENSMUST00000125911] [ENSMUST00000128927] [ENSMUST00000143091] [ENSMUST00000154079] [ENSMUST00000150365] [ENSMUST00000152581] [ENSMUST00000176265] [ENSMUST00000134438]
AlphaFold Q68FL4
Predicted Effect probably benign
Transcript: ENSMUST00000064872
SMART Domains Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
low complexity region 39 69 N/A INTRINSIC
Pfam:AdoHcyase 82 223 3.5e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143091
SMART Domains Protein: ENSMUSP00000144873
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
Pfam:AdoHcyase 1 115 2.1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143707
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135396
Predicted Effect probably benign
Transcript: ENSMUST00000154079
SMART Domains Protein: ENSMUSP00000115093
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
low complexity region 38 68 N/A INTRINSIC
Pfam:AdoHcyase 81 181 2.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150365
SMART Domains Protein: ENSMUSP00000134827
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
low complexity region 3 17 N/A INTRINSIC
low complexity region 35 80 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152581
SMART Domains Protein: ENSMUSP00000135386
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
low complexity region 39 50 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176265
SMART Domains Protein: ENSMUSP00000135714
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
low complexity region 39 69 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134438
SMART Domains Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772

DomainStartEndE-ValueType
low complexity region 20 36 N/A INTRINSIC
low complexity region 56 86 N/A INTRINSIC
Pfam:AdoHcyase 99 238 1.1e-65 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
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 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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810024B03Rik T C 2: 127,028,873 (GRCm39) T109A probably damaging Het
A430005L14Rik GCC G 4: 154,045,410 (GRCm39) probably null Het
Actr1a T C 19: 46,384,103 (GRCm39) D5G possibly damaging Het
Adra2c A G 5: 35,438,217 (GRCm39) T330A probably benign Het
Ahnak T C 19: 8,984,539 (GRCm39) V1941A probably damaging Het
Akr1b7 G A 6: 34,389,411 (GRCm39) probably null Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ank2 A G 3: 126,746,875 (GRCm39) V570A probably damaging Het
Ano4 T C 10: 88,948,702 (GRCm39) E302G probably damaging Het
Bop1 A T 15: 76,339,489 (GRCm39) H285Q probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Catsperb A T 12: 101,560,543 (GRCm39) I845L possibly damaging Het
Ccdc28b G T 4: 129,513,238 (GRCm39) Q184K probably damaging Het
Cd101 A G 3: 100,926,126 (GRCm39) S198P probably damaging Het
Cdc7 A T 5: 107,117,163 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,269 (GRCm39) D1268G probably benign Het
Celsr3 C T 9: 108,705,781 (GRCm39) R755W probably damaging Het
Chrnb1 T A 11: 69,684,979 (GRCm39) N117I probably damaging Het
Chst11 C A 10: 83,027,083 (GRCm39) P170Q probably damaging Het
Clca3b A G 3: 144,552,932 (GRCm39) Y98H probably damaging Het
Crnkl1 A G 2: 145,770,132 (GRCm39) V237A possibly damaging Het
Ctnnbl1 G A 2: 157,659,752 (GRCm39) probably null Het
Dbndd1 C A 8: 124,236,582 (GRCm39) R95S probably damaging Het
Ddx3y A G Y: 1,265,965 (GRCm39) V344A probably damaging Het
Defb30 A T 14: 63,273,559 (GRCm39) probably null Het
Dennd10 T C 19: 60,823,274 (GRCm39) L303P probably benign Het
Dnah17 C T 11: 118,018,108 (GRCm39) R129Q probably benign Het
Dnhd1 A T 7: 105,362,891 (GRCm39) M3818L probably benign Het
Dusp4 G T 8: 35,284,458 (GRCm39) D258Y probably damaging Het
E2f1 A T 2: 154,406,368 (GRCm39) F103I probably benign Het
Elavl2 T C 4: 91,149,055 (GRCm39) Y248C probably damaging Het
Ephb3 T C 16: 21,037,855 (GRCm39) V310A possibly damaging Het
Erbin A G 13: 103,993,917 (GRCm39) probably null Het
Etv4 A T 11: 101,666,167 (GRCm39) H120Q probably damaging Het
Fcgbpl1 T C 7: 27,839,608 (GRCm39) F474L probably benign Het
Flot2 T A 11: 77,940,314 (GRCm39) C20* probably null Het
Fsip2 G A 2: 82,821,262 (GRCm39) G5665D probably benign Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Glrp1 TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG TTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGCTGGTGCTGTTGGTGCTGCTGGTGCTGCTG 1: 88,431,066 (GRCm39) probably benign Het
Gm43302 A T 5: 105,427,955 (GRCm39) L202* probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hnf1b A T 11: 83,746,863 (GRCm39) M160L probably damaging Het
Inhbe T C 10: 127,186,470 (GRCm39) T237A possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kmt2c A T 5: 25,499,732 (GRCm39) probably null Het
Kyat3 A G 3: 142,440,367 (GRCm39) K364E probably benign Het
Lars1 T A 18: 42,350,024 (GRCm39) T927S probably benign Het
Mfap1b A T 2: 121,304,371 (GRCm39) M8K probably benign Het
Mroh8 G A 2: 157,070,576 (GRCm39) P592S possibly damaging Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1x6 C T 11: 50,939,297 (GRCm39) A121V probably damaging Het
Or4c110 A T 2: 88,832,540 (GRCm39) L31M probably benign Het
Or51a24 T C 7: 103,734,098 (GRCm39) Y63C probably benign Het
Pcdha8 T A 18: 37,126,787 (GRCm39) V423E probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pde8a T C 7: 80,983,170 (GRCm39) V791A probably damaging Het
Pds5a A G 5: 65,795,920 (GRCm39) S657P probably benign Het
Pes1 CGGAGGAGGAGGAGGAGGAGGAGG CGGAGGAGGAGGAGGAGGAGG 11: 3,927,719 (GRCm39) probably benign Het
Rad51d A G 11: 82,781,196 (GRCm39) V17A possibly damaging Het
Sdc1 A T 12: 8,841,743 (GRCm39) probably null Het
Sdcbp2 T A 2: 151,429,057 (GRCm39) I152N probably damaging Het
Slc4a4 G T 5: 89,194,076 (GRCm39) M141I probably benign Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Spata6 T C 4: 111,656,315 (GRCm39) C320R probably damaging Het
Spata6l T C 19: 28,905,089 (GRCm39) H325R possibly damaging Het
Ssu2 T A 6: 112,357,957 (GRCm39) T129S probably damaging Het
Stat5a T A 11: 100,771,409 (GRCm39) W631R probably damaging Het
Sult1c2 T A 17: 54,143,939 (GRCm39) N122I possibly damaging Het
Synpo2 G A 3: 122,911,331 (GRCm39) Q105* probably null Het
Tert G A 13: 73,787,362 (GRCm39) V783I probably damaging Het
Ticam1 G T 17: 56,578,117 (GRCm39) T326K probably benign Het
Tmem63b T C 17: 45,980,888 (GRCm39) M269V possibly damaging Het
Tmem86a T A 7: 46,702,794 (GRCm39) V73E possibly damaging Het
Trpv4 G A 5: 114,761,675 (GRCm39) R818C possibly damaging Het
Tstd2 A G 4: 46,135,542 (GRCm39) S4P probably benign Het
Ttn A T 2: 76,644,715 (GRCm39) V4686E probably damaging Het
Ubash3b A G 9: 40,954,769 (GRCm39) probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Usp33 A G 3: 152,089,824 (GRCm39) E780G possibly damaging Het
Vapb T A 2: 173,613,336 (GRCm39) Y78* probably null Het
Vps13b G A 15: 35,887,094 (GRCm39) R3227Q probably damaging Het
Vps33a A T 5: 123,696,693 (GRCm39) I320N probably damaging Het
Wnt5a T C 14: 28,244,727 (GRCm39) C305R probably damaging Het
Zbtb38 A G 9: 96,569,696 (GRCm39) C463R probably damaging Het
Zc3h12d G A 10: 7,742,090 (GRCm39) C263Y probably damaging Het
Zfp971 G A 2: 177,675,526 (GRCm39) R375Q probably damaging Het
Znrf1 T A 8: 112,345,826 (GRCm39) probably null Het
Other mutations in Ahcyl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02966:Ahcyl2 APN 6 29,880,556 (GRCm39) missense probably benign 0.03
IGL03072:Ahcyl2 APN 6 29,906,500 (GRCm39) splice site probably benign
IGL03195:Ahcyl2 APN 6 29,906,768 (GRCm39) splice site probably benign
R0189:Ahcyl2 UTSW 6 29,891,242 (GRCm39) missense probably benign 0.32
R0395:Ahcyl2 UTSW 6 29,886,167 (GRCm39) missense probably damaging 1.00
R0555:Ahcyl2 UTSW 6 29,890,670 (GRCm39) critical splice acceptor site probably benign
R0924:Ahcyl2 UTSW 6 29,870,627 (GRCm39) splice site probably null
R0930:Ahcyl2 UTSW 6 29,870,627 (GRCm39) splice site probably null
R1413:Ahcyl2 UTSW 6 29,768,586 (GRCm39) utr 5 prime probably benign
R1446:Ahcyl2 UTSW 6 29,891,239 (GRCm39) missense probably damaging 0.96
R1822:Ahcyl2 UTSW 6 29,768,583 (GRCm39) utr 5 prime probably benign
R1864:Ahcyl2 UTSW 6 29,908,354 (GRCm39) missense probably damaging 1.00
R1865:Ahcyl2 UTSW 6 29,908,354 (GRCm39) missense probably damaging 1.00
R3810:Ahcyl2 UTSW 6 29,891,260 (GRCm39) missense probably benign 0.01
R4429:Ahcyl2 UTSW 6 29,894,874 (GRCm39) missense probably damaging 1.00
R4932:Ahcyl2 UTSW 6 29,890,700 (GRCm39) missense probably benign 0.22
R5019:Ahcyl2 UTSW 6 29,859,738 (GRCm39) missense possibly damaging 0.96
R5032:Ahcyl2 UTSW 6 29,768,555 (GRCm39) utr 5 prime probably benign
R5604:Ahcyl2 UTSW 6 29,908,366 (GRCm39) missense probably damaging 1.00
R5817:Ahcyl2 UTSW 6 29,890,720 (GRCm39) missense probably damaging 1.00
R5959:Ahcyl2 UTSW 6 29,886,173 (GRCm39) missense probably damaging 1.00
R6159:Ahcyl2 UTSW 6 29,908,457 (GRCm39) missense possibly damaging 0.81
R6531:Ahcyl2 UTSW 6 29,886,161 (GRCm39) missense probably benign 0.41
R7025:Ahcyl2 UTSW 6 29,908,420 (GRCm39) missense probably damaging 1.00
R7478:Ahcyl2 UTSW 6 29,903,266 (GRCm39) missense probably damaging 1.00
R7560:Ahcyl2 UTSW 6 29,886,139 (GRCm39) missense probably damaging 1.00
R7604:Ahcyl2 UTSW 6 29,768,555 (GRCm39) missense unknown
R7960:Ahcyl2 UTSW 6 29,870,626 (GRCm39) missense probably benign 0.39
R7969:Ahcyl2 UTSW 6 29,870,663 (GRCm39) missense probably damaging 1.00
R8046:Ahcyl2 UTSW 6 29,878,619 (GRCm39) missense probably damaging 1.00
R8360:Ahcyl2 UTSW 6 29,768,869 (GRCm39) missense probably benign
R9432:Ahcyl2 UTSW 6 29,768,874 (GRCm39) missense possibly damaging 0.83
Predicted Primers
Posted On 2016-09-06