Incidental Mutation 'IGL02884:Haghl'
ID 362908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Haghl
Ensembl Gene ENSMUSG00000061046
Gene Name hydroxyacylglutathione hydrolase-like
Synonyms 1500017E18Rik, C330022E15Rik, 2810014I23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02884
Quality Score
Status
Chromosome 17
Chromosomal Location 25998817-26004560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26002072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 207 (F207Y)
Ref Sequence ENSEMBL: ENSMUSP00000115538 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000131458] [ENSMUST00000138759] [ENSMUST00000133071] [ENSMUST00000150324] [ENSMUST00000140738] [ENSMUST00000145053] [ENSMUST00000134108]
AlphaFold Q9DB32
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 benign
Transcript: ENSMUST00000077938
AA Change: F255Y

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046
AA Change: F255Y

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 possibly damaging
Transcript: ENSMUST00000138759
AA Change: F207Y

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046
AA Change: F207Y

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000133071
AA Change: F207Y

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046
AA Change: F207Y

DomainStartEndE-ValueType
Lactamase_B 1 125 1.34e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150324
AA Change: F255Y

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046
AA Change: F255Y

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
Pfam:HAGH_C 174 270 3.2e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143248
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137587
Predicted Effect probably benign
Transcript: ENSMUST00000140738
SMART Domains Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046

DomainStartEndE-ValueType
Lactamase_B 11 173 7.63e-25 SMART
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 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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Crot C T 5: 9,028,197 (GRCm39) probably null Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R probably damaging Het
Other mutations in Haghl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Haghl APN 17 26,003,239 (GRCm39) missense probably damaging 1.00
IGL02309:Haghl APN 17 26,003,638 (GRCm39) missense probably damaging 1.00
IGL02458:Haghl APN 17 26,002,470 (GRCm39) splice site probably benign
IGL02480:Haghl APN 17 26,002,033 (GRCm39) missense probably damaging 1.00
R2939:Haghl UTSW 17 26,004,060 (GRCm39) missense possibly damaging 0.57
R2940:Haghl UTSW 17 26,004,060 (GRCm39) missense possibly damaging 0.57
R4458:Haghl UTSW 17 26,003,994 (GRCm39) missense probably damaging 0.99
R4850:Haghl UTSW 17 26,001,980 (GRCm39) utr 3 prime probably benign
R6465:Haghl UTSW 17 26,002,793 (GRCm39) missense possibly damaging 0.50
R7934:Haghl UTSW 17 26,002,519 (GRCm39) missense probably damaging 0.97
X0065:Haghl UTSW 17 26,003,653 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18