Incidental Mutation 'IGL02480:Haghl'
ID295168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haghl
Ensembl Gene ENSMUSG00000061046
Gene Namehydroxyacylglutathione hydrolase-like
Synonyms2810014I23Rik, 1500017E18Rik, C330022E15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02480
Quality Score
Status
Chromosome17
Chromosomal Location25779843-25785673 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 25783059 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 220 (A220E)
Ref Sequence ENSEMBL: ENSMUSP00000115538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000131458] [ENSMUST00000133071] [ENSMUST00000134108] [ENSMUST00000138759] [ENSMUST00000140738] [ENSMUST00000145053] [ENSMUST00000150324]
Predicted Effect probably benign
Transcript: ENSMUST00000002350
SMART Domains Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 406 8.5e-95 PFAM
Fe_hyd_SSU 410 466 9.56e-17 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000077938
AA Change: A268E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046
AA Change: A268E

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095500
SMART Domains Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202

DomainStartEndE-ValueType
Pfam:DUF4472 63 190 5.5e-23 PFAM
coiled coil region 364 408 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130861
Predicted Effect probably benign
Transcript: ENSMUST00000131458
SMART Domains Protein: ENSMUSP00000120281
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
low complexity region 58 73 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000133071
AA Change: A220E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046
AA Change: A220E

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134108
SMART Domains Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280

DomainStartEndE-ValueType
Pfam:Fe_hyd_lg_C 110 422 4e-85 PFAM
Fe_hyd_SSU 426 482 9.56e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137587
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138100
Predicted Effect probably damaging
Transcript: ENSMUST00000138759
AA Change: A220E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046
AA Change: A220E

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140738
SMART Domains Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143248
Predicted Effect probably benign
Transcript: ENSMUST00000145053
SMART Domains Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Pfam:Lactamase_B 7 113 3.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149645
Predicted Effect probably damaging
Transcript: ENSMUST00000150324
AA Change: A268E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046
AA Change: A268E

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183975
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 60,039,487 I202K probably benign Het
Abcc1 T A 16: 14,404,005 S169T possibly damaging Het
Acsm1 A T 7: 119,656,042 I389F possibly damaging Het
Actn2 T A 13: 12,276,478 Q680L probably benign Het
Ankrd13d G A 19: 4,271,463 P404S possibly damaging Het
Ankrd46 G T 15: 36,483,996 probably benign Het
Arfip1 A G 3: 84,547,932 probably null Het
Asb15 A T 6: 24,570,746 L574F probably damaging Het
Cym T C 3: 107,213,522 I256V probably benign Het
Cyp3a44 C T 5: 145,794,905 E144K possibly damaging Het
Efna1 T C 3: 89,272,595 E109G probably benign Het
Eml1 C A 12: 108,521,696 Q556K probably benign Het
Eml5 T G 12: 98,876,243 T199P probably damaging Het
Etl4 A C 2: 20,788,524 M687L probably damaging Het
Fam199x C A X: 137,050,039 T56K probably damaging Het
Fat4 A G 3: 39,010,430 D4845G probably damaging Het
Gm4987 T A X: 46,456,096 noncoding transcript Het
Gm5828 C A 1: 16,769,542 noncoding transcript Het
Gm5930 T C 14: 44,337,630 Y68C probably benign Het
Gm8994 A T 6: 136,329,215 I225F probably damaging Het
Gucy1a1 C T 3: 82,097,733 V582M probably damaging Het
Hsf5 G A 11: 87,631,657 A359T possibly damaging Het
Igsf9 C A 1: 172,496,913 D799E possibly damaging Het
Igsf9 A T 1: 172,484,778 probably benign Het
Itga1 A T 13: 114,987,648 F703I probably damaging Het
Kcna6 G A 6: 126,738,568 P453S probably damaging Het
Lzic A T 4: 149,486,803 N15I probably damaging Het
Olfr1278 A G 2: 111,292,513 I82V possibly damaging Het
Olfr136 A G 17: 38,335,423 R89G probably benign Het
Olfr338 T G 2: 36,377,492 C239G probably damaging Het
Olfr506 C T 7: 108,612,811 T168I probably benign Het
P4ha1 T C 10: 59,343,752 Y141H probably damaging Het
Paxx G A 2: 25,460,012 P164S probably damaging Het
Pgd A G 4: 149,156,618 V278A probably damaging Het
Pik3c2g A G 6: 139,852,800 Y352C probably damaging Het
Pkd2l2 A G 18: 34,438,790 N614S possibly damaging Het
Poli T C 18: 70,525,406 T86A probably benign Het
Psd2 G A 18: 36,006,083 R528H probably damaging Het
Ptchd4 G T 17: 42,502,540 C444F probably benign Het
Ptpra C A 2: 130,504,261 T114K probably benign Het
Rho A G 6: 115,935,544 N123S probably benign Het
Sdccag3 T A 2: 26,385,120 H342L probably damaging Het
Setd5 A G 6: 113,143,809 D993G probably damaging Het
Slc1a2 T C 2: 102,736,066 L38P probably damaging Het
Slc2a7 G A 4: 150,160,112 V346M possibly damaging Het
Slc43a1 A G 2: 84,839,584 I7V probably benign Het
Spag9 C T 11: 94,108,587 Q691* probably null Het
Timmdc1 A T 16: 38,522,401 V45D probably null Het
Tlr8 T A X: 167,244,183 H557L probably damaging Het
Other mutations in Haghl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Haghl APN 17 25784265 missense probably damaging 1.00
IGL02309:Haghl APN 17 25784664 missense probably damaging 1.00
IGL02458:Haghl APN 17 25783496 splice site probably benign
IGL02884:Haghl APN 17 25783098 missense possibly damaging 0.53
R2939:Haghl UTSW 17 25785086 missense possibly damaging 0.57
R2940:Haghl UTSW 17 25785086 missense possibly damaging 0.57
R4458:Haghl UTSW 17 25785020 missense probably damaging 0.99
R4850:Haghl UTSW 17 25783006 utr 3 prime probably benign
R6465:Haghl UTSW 17 25783819 missense possibly damaging 0.50
X0065:Haghl UTSW 17 25784679 missense probably damaging 1.00
Posted On2015-04-16