Incidental Mutation 'IGL00702:Hsdl2'
ID11364
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsdl2
Ensembl Gene ENSMUSG00000028383
Gene Namehydroxysteroid dehydrogenase like 2
Synonyms2610207I16Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.181) question?
Stock #IGL00702
Quality Score
Status
Chromosome4
Chromosomal Location59581563-59618689 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 59596892 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Arginine at position 57 (K57R)
Ref Sequence ENSEMBL: ENSMUSP00000119139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528] [ENSMUST00000128792]
Predicted Effect unknown
Transcript: ENSMUST00000030078
AA Change: K142R
SMART Domains Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: K142R

DomainStartEndE-ValueType
Pfam:KR 11 142 6.3e-7 PFAM
Pfam:adh_short 11 209 2.9e-37 PFAM
Pfam:adh_short_C2 17 217 3.3e-11 PFAM
low complexity region 295 367 N/A INTRINSIC
Pfam:SCP2 382 484 4.1e-28 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000107528
AA Change: K22R
SMART Domains Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: K22R

DomainStartEndE-ValueType
PDB:3KVO|B 1 174 1e-98 PDB
low complexity region 175 247 N/A INTRINSIC
Pfam:SCP2 262 364 2.5e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128792
AA Change: K57R

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000119139
Gene: ENSMUSG00000028383
AA Change: K57R

DomainStartEndE-ValueType
SCOP:d1hu4a_ 9 122 1e-19 SMART
PDB:3KVO|B 9 149 8e-83 PDB
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atm A G 9: 53,511,831 V665A probably benign Het
Fastkd1 C T 2: 69,708,545 V166I probably damaging Het
Krt39 T G 11: 99,519,063 Q216P probably damaging Het
Lifr T C 15: 7,185,739 probably null Het
Ppp3cb A G 14: 20,528,250 V144A probably benign Het
Rmdn1 G A 4: 19,605,421 S255N probably damaging Het
Rsph4a A T 10: 33,913,072 N638Y probably damaging Het
Ugt2b5 A T 5: 87,125,219 N529K probably benign Het
Other mutations in Hsdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00857:Hsdl2 APN 4 59617735 missense probably benign 0.29
IGL01859:Hsdl2 APN 4 59601569 critical splice donor site probably null
IGL02822:Hsdl2 APN 4 59601379 missense possibly damaging 0.55
IGL03028:Hsdl2 APN 4 59594471 missense probably damaging 0.98
IGL03275:Hsdl2 APN 4 59617747 makesense probably null
R0217:Hsdl2 UTSW 4 59597311 missense probably damaging 1.00
R0294:Hsdl2 UTSW 4 59601408 missense probably benign 0.00
R0448:Hsdl2 UTSW 4 59606523 missense unknown
R0490:Hsdl2 UTSW 4 59612814 splice site probably benign
R1353:Hsdl2 UTSW 4 59596971 splice site probably null
R1668:Hsdl2 UTSW 4 59612697 missense probably damaging 1.00
R3933:Hsdl2 UTSW 4 59597274 missense probably damaging 1.00
R4088:Hsdl2 UTSW 4 59610636 missense unknown
R4247:Hsdl2 UTSW 4 59594417 missense probably damaging 1.00
R4449:Hsdl2 UTSW 4 59617692 missense possibly damaging 0.61
R4723:Hsdl2 UTSW 4 59593270 unclassified probably benign
R4858:Hsdl2 UTSW 4 59612812 critical splice donor site probably null
R5361:Hsdl2 UTSW 4 59592301 unclassified probably benign
R6435:Hsdl2 UTSW 4 59610668 missense unknown
R6525:Hsdl2 UTSW 4 59612696 missense probably damaging 0.99
R6536:Hsdl2 UTSW 4 59610508 critical splice acceptor site probably null
Posted On2012-12-06