Incidental Mutation 'RF051:Hsdl2'
ID 605139
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 # RF051 (G1)
Quality Score 217.468
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) TGC to TGCCGGAGCAGCCACAGCGGC at 59610636 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: 99.4%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cnpy3 CTC CTCATC 17: 47,047,674 (GRCm39) probably benign Het
Gabre CTCCGG CTCCGGGTCCGG X: 71,313,655 (GRCm39) probably benign Het
Garin5a GGGTCTGAGGGAGGA GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA 7: 44,149,947 (GRCm39) probably null Het
Gm14399 G C 2: 174,972,994 (GRCm39) Q254E probably benign Het
Il2 GGG GGGGCTTGAAGTGGG 3: 37,179,990 (GRCm39) probably benign Het
Kmt2c CCTTCT CCT 5: 25,518,477 (GRCm39) probably benign Het
Manbal CGATAGAAT C 2: 157,237,932 (GRCm39) probably null Het
Map1a CTCCAGCTCCAGCTCCAGCTCCA CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA 2: 121,136,777 (GRCm39) probably benign Het
Mei1 GC GCTGGCTGCC 15: 81,954,211 (GRCm39) probably null Het
Nalf2 GCCGCC GCCGCCACCGCC X: 98,864,968 (GRCm39) probably benign Het
Nbea TTTA T 3: 55,916,633 (GRCm39) probably benign Het
Nefh TGGCC TGGCCGCACCTGGGGCCTCGGCC 11: 4,891,054 (GRCm39) probably benign Het
Or2b7 GCCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTATGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT GGCAAACCCTGTGAGCAAGCAGTTATAACCATCTTTAT 13: 21,739,693 (GRCm39) probably null Het
Pde3b GGTGGTGGTG GGTGGTGGTGGTG 7: 114,134,010 (GRCm39) probably benign Het
Plekhg2 GGTG GG 7: 28,061,777 (GRCm39) probably null Het
Rassf6 AGCAATGGGGA AGCAATGGGGAATCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGA 5: 90,756,788 (GRCm39) probably benign Het
Smarca2 AGCAGC AGCAGCCGCAGC 19: 26,608,388 (GRCm39) probably benign Het
Stard8 GAG GAGCAG X: 98,110,130 (GRCm39) probably benign Het
Tcof1 CTTGGC CTTGGCTGCTGAGATGGGCACTTTCCCAGAGATCCCATTGGC 18: 60,966,651 (GRCm39) probably benign Het
Triobp AGCCCCAGGACTCCCTGTGCCCAACGG AGCCCCAGGACTCCCTGTGCCCAACGGAACAGCCCCAGGACTCCCTGTGCCCAACGG 15: 78,851,234 (GRCm39) probably benign Het
Usp2 C CTCATGTGACCTGTTCTTCACTTCT 9: 44,000,426 (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
RF056:Hsdl2 UTSW 4 59,610,647 (GRCm39) frame shift probably null
RF059:Hsdl2 UTSW 4 59,610,658 (GRCm39) small insertion probably benign
RF060:Hsdl2 UTSW 4 59,610,608 (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'- TTCATCACTGAGAGAGTCCTTAAC -3'

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