Incidental Mutation 'IGL02159:Hsdl1'
ID282374
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hsdl1
Ensembl Gene ENSMUSG00000034189
Gene Namehydroxysteroid dehydrogenase like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock #IGL02159
Quality Score
Status
Chromosome8
Chromosomal Location119561989-119575183 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119566414 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 73 (V73A)
Ref Sequence ENSEMBL: ENSMUSP00000148641 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036049] [ENSMUST00000212065] [ENSMUST00000212198] [ENSMUST00000212517]
Predicted Effect probably benign
Transcript: ENSMUST00000036049
AA Change: V94A

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044371
Gene: ENSMUSG00000034189
AA Change: V94A

DomainStartEndE-ValueType
Pfam:adh_short 68 260 1.3e-37 PFAM
Pfam:adh_short_C2 74 256 3.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000212065
AA Change: V73A

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000212198
Predicted Effect probably benign
Transcript: ENSMUST00000212517
AA Change: V73A

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Capza1 T C 3: 104,864,371 D3G possibly damaging Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Hsdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03349:Hsdl1 APN 8 119565697 missense probably benign 0.41
R0106:Hsdl1 UTSW 8 119565778 missense probably damaging 0.98
R0201:Hsdl1 UTSW 8 119566256 missense possibly damaging 0.46
R0519:Hsdl1 UTSW 8 119565711 missense probably damaging 0.97
R4976:Hsdl1 UTSW 8 119565867 missense possibly damaging 0.75
R5119:Hsdl1 UTSW 8 119565867 missense possibly damaging 0.75
R6799:Hsdl1 UTSW 8 119566430 missense probably benign 0.00
R7096:Hsdl1 UTSW 8 119566325 missense possibly damaging 0.91
Posted On2015-04-16