Incidental Mutation 'IGL02966:Ahcyl2'
ID365612
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ahcyl2
Ensembl Gene ENSMUSG00000029772
Gene NameS-adenosylhomocysteine hydrolase-like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.780) question?
Stock #IGL02966
Quality Score
Status
Chromosome6
Chromosomal Location29768011-29912310 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 29880557 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 175 (V175I)
Ref Sequence ENSEMBL: ENSMUSP00000115093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064872] [ENSMUST00000102995] [ENSMUST00000115238] [ENSMUST00000115242] [ENSMUST00000125911] [ENSMUST00000128927] [ENSMUST00000134438] [ENSMUST00000143091] [ENSMUST00000154079]
Predicted Effect probably benign
Transcript: ENSMUST00000064872
AA Change: V175I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000067638
Gene: ENSMUSG00000029772
AA Change: V175I

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
AA Change: V279I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100060
Gene: ENSMUSG00000029772
AA Change: V279I

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
AA Change: V175I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110893
Gene: ENSMUSG00000029772
AA Change: V175I

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
AA Change: V280I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110897
Gene: ENSMUSG00000029772
AA Change: V280I

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
AA Change: V71I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135518
Gene: ENSMUSG00000029772
AA Change: V71I

DomainStartEndE-ValueType
AdoHcyase 1 403 8.07e-243 SMART
AdoHcyase_NAD 163 324 2.21e-103 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128927
AA Change: V176I

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000135633
Gene: ENSMUSG00000029772
AA Change: V176I

DomainStartEndE-ValueType
low complexity region 39 69 N/A INTRINSIC
Pfam:AdoHcyase 82 223 3.5e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134438
AA Change: V193I

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000118790
Gene: ENSMUSG00000029772
AA Change: V193I

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
Predicted Effect probably benign
Transcript: ENSMUST00000143091
AA Change: V71I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000144873
Gene: ENSMUSG00000029772
AA Change: V71I

DomainStartEndE-ValueType
Pfam:AdoHcyase 1 115 2.1e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149816
Predicted Effect probably benign
Transcript: ENSMUST00000154079
AA Change: V175I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000115093
Gene: ENSMUSG00000029772
AA Change: V175I

DomainStartEndE-ValueType
low complexity region 38 68 N/A INTRINSIC
Pfam:AdoHcyase 81 181 2.3e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202115
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 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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930595M18Rik A T X: 81,419,711 Y797N possibly damaging Het
Actbl2 G A 13: 111,255,572 G147E probably damaging Het
Adam18 A T 8: 24,611,149 probably benign Het
Alox12 T A 11: 70,250,085 T375S probably damaging Het
Batf2 C A 19: 6,171,789 Q210K probably damaging Het
Bicd1 T C 6: 149,483,996 S76P probably damaging Het
Bphl A T 13: 34,063,997 H251L probably damaging Het
C130074G19Rik C A 1: 184,882,746 E82D probably damaging Het
Calu A T 6: 29,356,585 K39* probably null Het
Capns1 T C 7: 30,192,193 D142G probably damaging Het
Ccr8 T C 9: 120,094,140 V107A probably damaging Het
Cep170b G A 12: 112,736,444 G447D possibly damaging Het
Chat C T 14: 32,448,946 V199M probably damaging Het
Cntnap1 G T 11: 101,184,749 V918L probably damaging Het
Cyp27a1 A G 1: 74,732,090 T145A probably benign Het
Dgkq T A 5: 108,656,421 probably null Het
Dnhd1 A G 7: 105,720,741 I4458V probably benign Het
Enpp1 T A 10: 24,660,274 E409D probably damaging Het
Fam78b G T 1: 167,078,888 L205F probably damaging Het
Foxr2 C A X: 153,130,681 R183S probably damaging Het
Ganc T C 2: 120,433,648 S361P probably damaging Het
Gfra4 C A 2: 131,042,640 A15S possibly damaging Het
Gm8011 A T 14: 42,466,000 D145V unknown Het
Gnb4 A G 3: 32,585,223 V307A probably benign Het
Hdac4 A T 1: 92,054,945 V17E possibly damaging Het
Herc6 G A 6: 57,583,333 probably null Het
Hivep3 A G 4: 120,132,186 T1945A probably benign Het
Ica1l A T 1: 60,010,139 N218K probably damaging Het
Kmt2b A T 7: 30,575,462 L1939Q probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
March8 C T 6: 116,403,538 R117C probably damaging Het
Megf6 T C 4: 154,253,777 S327P probably damaging Het
Mocos T G 18: 24,676,611 C424G probably damaging Het
Mrpl50 A G 4: 49,521,014 W14R probably benign Het
Mysm1 A T 4: 94,975,286 D23E probably benign Het
Naa35 T A 13: 59,586,271 D34E probably benign Het
Nid1 A G 13: 13,482,221 I646V probably benign Het
Nupr1 T C 7: 126,624,901 probably benign Het
Olfr1449 A T 19: 12,934,800 I21F probably benign Het
Olfr171 G T 16: 19,624,301 H266Q probably damaging Het
Olfr875 T G 9: 37,773,586 L309R probably benign Het
Pcbp2 A C 15: 102,484,249 probably benign Het
Pde8b T C 13: 95,095,648 Q158R probably damaging Het
Pdzd8 T C 19: 59,300,859 Y703C probably damaging Het
Plxnb3 T C X: 73,765,283 S885P probably benign Het
Poc1b T A 10: 99,144,314 C136S probably damaging Het
Pole2 T C 12: 69,209,875 D292G probably damaging Het
Prpf39 T C 12: 65,042,779 V97A probably benign Het
Rbbp8 T A 18: 11,705,812 H183Q possibly damaging Het
Scn2a C T 2: 65,701,844 T600M possibly damaging Het
Spata32 T C 11: 103,208,803 Q292R possibly damaging Het
Sugp1 T C 8: 70,071,108 probably benign Het
Sult3a1 A C 10: 33,877,273 probably benign Het
Tpm3-rs7 C T 14: 113,315,378 Q235* probably null Het
Trbv2 A T 6: 41,047,751 T34S possibly damaging Het
Tssk6 A G 8: 69,902,885 Y193C probably benign Het
Ttn T C 2: 76,708,458 K34676R possibly damaging Het
Ugt3a2 T C 15: 9,370,068 Y433H probably damaging Het
Wdhd1 T C 14: 47,241,644 K1072E possibly damaging Het
Other mutations in Ahcyl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03072:Ahcyl2 APN 6 29906501 splice site probably benign
IGL03195:Ahcyl2 APN 6 29906769 splice site probably benign
R0189:Ahcyl2 UTSW 6 29891243 missense probably benign 0.32
R0395:Ahcyl2 UTSW 6 29886168 missense probably damaging 1.00
R0555:Ahcyl2 UTSW 6 29890671 critical splice acceptor site probably benign
R0924:Ahcyl2 UTSW 6 29870628 splice site probably null
R0930:Ahcyl2 UTSW 6 29870628 splice site probably null
R1413:Ahcyl2 UTSW 6 29768587 utr 5 prime probably benign
R1446:Ahcyl2 UTSW 6 29891240 missense probably damaging 0.96
R1822:Ahcyl2 UTSW 6 29768584 utr 5 prime probably benign
R1864:Ahcyl2 UTSW 6 29908355 missense probably damaging 1.00
R1865:Ahcyl2 UTSW 6 29908355 missense probably damaging 1.00
R3810:Ahcyl2 UTSW 6 29891261 missense probably benign 0.01
R4429:Ahcyl2 UTSW 6 29894875 missense probably damaging 1.00
R4932:Ahcyl2 UTSW 6 29890701 missense probably benign 0.22
R5019:Ahcyl2 UTSW 6 29859739 missense possibly damaging 0.96
R5032:Ahcyl2 UTSW 6 29768556 utr 5 prime probably benign
R5396:Ahcyl2 UTSW 6 29859698 intron probably benign
R5604:Ahcyl2 UTSW 6 29908367 missense probably damaging 1.00
R5817:Ahcyl2 UTSW 6 29890721 missense probably damaging 1.00
R5959:Ahcyl2 UTSW 6 29886174 missense probably damaging 1.00
R6159:Ahcyl2 UTSW 6 29908458 missense possibly damaging 0.81
R6531:Ahcyl2 UTSW 6 29886162 missense probably benign 0.41
R7025:Ahcyl2 UTSW 6 29908421 missense probably damaging 1.00
R7478:Ahcyl2 UTSW 6 29903267 missense probably damaging 1.00
R7560:Ahcyl2 UTSW 6 29886140 missense probably damaging 1.00
R7604:Ahcyl2 UTSW 6 29768556 missense unknown
R7960:Ahcyl2 UTSW 6 29870627 missense probably benign 0.39
R7969:Ahcyl2 UTSW 6 29870664 missense probably damaging 1.00
R8046:Ahcyl2 UTSW 6 29878620 missense probably damaging 1.00
R8360:Ahcyl2 UTSW 6 29768870 missense probably benign
Posted On2015-12-18