Incidental Mutation 'RF060:Hsdl2'
ID 605373
Institutional Source Beutler Lab
Gene Symbol Hsdl2
Ensembl Gene ENSMUSG00000028383
Gene Name hydroxysteroid dehydrogenase like 2
Synonyms 2610207I16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF060 (G1)
Quality Score 108.467
Status Not validated
Chromosome 4
Chromosomal Location 59581563-59618689 bp(+) (GRCm39)
Type of Mutation small insertion (6 aa in frame mutation)
DNA Base Change (assembly) AAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC to AAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC at 59610608 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528]
AlphaFold Q2TPA8
Predicted Effect probably benign
Transcript: ENSMUST00000030078
SMART Domains Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383

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 probably benign
Transcript: ENSMUST00000107528
SMART Domains Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383

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
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A030005L19Rik TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG TGGCTGTGGCTGTGG 1: 82,891,117 (GRCm39) probably benign Het
A030005L19Rik GCTG GCTGTGGCTTCTG 1: 82,891,308 (GRCm39) probably benign Het
A030005L19Rik CTGTGGCTG CTGTGGCTGATGTGGCTG 1: 82,891,300 (GRCm39) probably null Het
Ankhd1 G GTGGCGC 18: 36,693,975 (GRCm39) probably benign Het
Cacna1f GAG GAGCAG X: 7,486,299 (GRCm39) probably benign Het
Cd109 ATTTATTTAT ATTTATTTATTTCTTTATTTAT 9: 78,619,807 (GRCm39) probably benign Het
Chd4 CC CCACTGGC 6: 125,099,108 (GRCm39) probably benign Het
Chga GCA GCATCA 12: 102,527,683 (GRCm39) probably benign Het
Cyb5r4 ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA ACTGCCCAGGGATCTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA 9: 86,922,466 (GRCm39) probably benign Het
Dnmt1 CGTT CGTTGTGGGGGAGGAGCACAGTTCCTACCTAGTT 9: 20,821,438 (GRCm39) probably null Het
Fam171b GC GCCGCAAC 2: 83,643,221 (GRCm39) probably benign Het
Fkbp1a GCCGCCGCCA G 2: 151,384,619 (GRCm39) probably null Het
Gab3 TTC TTCCTC X: 74,043,619 (GRCm39) probably benign Het
Garin5a GTCTGAGGGAGGA GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGTTCTGAGGGAGGA 7: 44,149,949 (GRCm39) probably null Het
Garin5a GAGGA GAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGGTAGGA 7: 44,149,957 (GRCm39) probably null Het
Klra10 TGTAGT TGT 6: 130,252,784 (GRCm39) probably benign Het
L1td1 GAGGAGGAGGAGGAGGAGGGGGAGGAGGAGAAGGAGGA GAGGAGGA 4: 98,625,031 (GRCm39) probably benign Het
Mamld1 CAG CAGTAG X: 70,162,437 (GRCm39) probably null Het
Mamld1 AGC AGCCGC X: 70,162,438 (GRCm39) probably benign Het
Map1a A AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCC 2: 121,136,799 (GRCm39) probably benign Het
Nefh GACTTGGCC GACTTGGCCCCACCTGGGTACTTGGCC 11: 4,891,050 (GRCm39) probably benign Het
Nefh CT CTGGGCTTCACCTGGGGATT 11: 4,891,052 (GRCm39) probably benign Het
Pdk1 CTGGCCT C 2: 71,703,789 (GRCm39) probably benign Het
Pou3f1 GC GCGGCGCC 4: 124,551,602 (GRCm39) probably benign Het
Rfx4 T TCTCTCTCTCTCTCTCC 10: 84,694,358 (GRCm39) probably benign Het
Spaca1 CTCGCT CTCGCTGTCGCT 4: 34,049,841 (GRCm39) probably benign Het
Spmap2l CAG CAGCGATCCTCCCCAGTCCCGCAAGGCAAG 5: 77,164,274 (GRCm39) probably benign Het
St3gal5 G GCACTC 6: 72,074,836 (GRCm39) probably null Het
Stat1 G T 1: 52,191,419 (GRCm39) E591D probably benign Het
Tcof1 CAG CAGTAG 18: 60,968,816 (GRCm39) probably benign Het
Tcof1 C CAGT 18: 60,968,819 (GRCm39) probably benign Het
Tfeb GCA GCACCA 17: 48,097,031 (GRCm39) probably benign Het
Tmem59 TTTGTTT TTTGTTTGCTTGTTT 4: 107,047,723 (GRCm39) probably benign Het
Zfhx3 G GAAACAGCAA 8: 109,682,720 (GRCm39) probably benign Het
Other mutations in Hsdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00702:Hsdl2 APN 4 59,596,892 (GRCm39) missense probably benign 0.26
IGL00857:Hsdl2 APN 4 59,617,735 (GRCm39) missense probably benign 0.29
IGL01859:Hsdl2 APN 4 59,601,569 (GRCm39) critical splice donor site probably null
IGL02822:Hsdl2 APN 4 59,601,379 (GRCm39) missense possibly damaging 0.55
IGL03028:Hsdl2 APN 4 59,594,471 (GRCm39) missense probably damaging 0.98
IGL03275:Hsdl2 APN 4 59,617,747 (GRCm39) makesense probably null
R0217:Hsdl2 UTSW 4 59,597,311 (GRCm39) missense probably damaging 1.00
R0294:Hsdl2 UTSW 4 59,601,408 (GRCm39) missense probably benign 0.00
R0448:Hsdl2 UTSW 4 59,606,523 (GRCm39) missense unknown
R0490:Hsdl2 UTSW 4 59,612,814 (GRCm39) splice site probably benign
R1353:Hsdl2 UTSW 4 59,596,971 (GRCm39) splice site probably null
R1668:Hsdl2 UTSW 4 59,612,697 (GRCm39) missense probably damaging 1.00
R3933:Hsdl2 UTSW 4 59,597,274 (GRCm39) missense probably damaging 1.00
R4088:Hsdl2 UTSW 4 59,610,636 (GRCm39) missense unknown
R4247:Hsdl2 UTSW 4 59,594,417 (GRCm39) missense probably damaging 1.00
R4449:Hsdl2 UTSW 4 59,617,692 (GRCm39) missense possibly damaging 0.61
R4723:Hsdl2 UTSW 4 59,593,270 (GRCm39) unclassified probably benign
R4858:Hsdl2 UTSW 4 59,612,812 (GRCm39) critical splice donor site probably null
R5361:Hsdl2 UTSW 4 59,592,301 (GRCm39) unclassified probably benign
R6435:Hsdl2 UTSW 4 59,610,668 (GRCm39) missense unknown
R6525:Hsdl2 UTSW 4 59,612,696 (GRCm39) missense probably damaging 0.99
R6536:Hsdl2 UTSW 4 59,610,508 (GRCm39) critical splice acceptor site probably null
R7156:Hsdl2 UTSW 4 59,617,653 (GRCm39) missense possibly damaging 0.78
R7740:Hsdl2 UTSW 4 59,612,724 (GRCm39) missense probably damaging 0.99
R8087:Hsdl2 UTSW 4 59,592,228 (GRCm39) missense unknown
R8434:Hsdl2 UTSW 4 59,610,621 (GRCm39) missense unknown
R9512:Hsdl2 UTSW 4 59,594,464 (GRCm39) nonsense probably null
RF005:Hsdl2 UTSW 4 59,610,652 (GRCm39) small insertion probably benign
RF013:Hsdl2 UTSW 4 59,610,657 (GRCm39) small insertion probably benign
RF015:Hsdl2 UTSW 4 59,610,640 (GRCm39) small insertion probably benign
RF016:Hsdl2 UTSW 4 59,610,643 (GRCm39) small insertion probably benign
RF020:Hsdl2 UTSW 4 59,610,640 (GRCm39) small insertion probably benign
RF023:Hsdl2 UTSW 4 59,610,644 (GRCm39) small insertion probably benign
RF025:Hsdl2 UTSW 4 59,610,637 (GRCm39) small insertion probably benign
RF026:Hsdl2 UTSW 4 59,610,655 (GRCm39) small insertion probably benign
RF028:Hsdl2 UTSW 4 59,610,650 (GRCm39) nonsense probably null
RF030:Hsdl2 UTSW 4 59,610,647 (GRCm39) small insertion probably benign
RF038:Hsdl2 UTSW 4 59,610,648 (GRCm39) small insertion probably benign
RF049:Hsdl2 UTSW 4 59,610,651 (GRCm39) small insertion probably benign
RF049:Hsdl2 UTSW 4 59,610,633 (GRCm39) small insertion probably benign
RF051:Hsdl2 UTSW 4 59,610,650 (GRCm39) small insertion probably benign
RF051:Hsdl2 UTSW 4 59,610,636 (GRCm39) small insertion probably benign
RF056:Hsdl2 UTSW 4 59,610,647 (GRCm39) frame shift probably null
RF059:Hsdl2 UTSW 4 59,610,658 (GRCm39) small insertion probably benign
RF061:Hsdl2 UTSW 4 59,610,657 (GRCm39) small insertion probably benign
Z1176:Hsdl2 UTSW 4 59,617,706 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TTGGCGGCTTTCCCCATAAG -3'
(R):5'- ATGTTTCTTCCACAGCTCCAAAATG -3'

Sequencing Primer
(F):5'- TTATGCTTTTAGATGCCATTTAATGC -3'
(R):5'- CCAAAATGTGGTTTTTGTGGTAGC -3'
Posted On 2019-12-04