Incidental Mutation 'R6435:Hsdl2'
ID 518738
Institutional Source Beutler Lab
Gene Symbol Hsdl2
Ensembl Gene ENSMUSG00000028383
Gene Name hydroxysteroid dehydrogenase like 2
Synonyms 2610207I16Rik
MMRRC Submission 044573-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6435 (G1)
Quality Score 150.008
Status Validated
Chromosome 4
Chromosomal Location 59581563-59618689 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 59610668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 222 (Q222K)
Ref Sequence ENSEMBL: ENSMUSP00000103152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030078] [ENSMUST00000107528]
AlphaFold Q2TPA8
Predicted Effect unknown
Transcript: ENSMUST00000030078
AA Change: Q342K
SMART Domains Protein: ENSMUSP00000030078
Gene: ENSMUSG00000028383
AA Change: Q342K

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: Q222K
SMART Domains Protein: ENSMUSP00000103152
Gene: ENSMUSG00000028383
AA Change: Q222K

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl1 A T 2: 31,691,561 (GRCm39) T1027S possibly damaging Het
Ablim1 T C 19: 57,049,787 (GRCm39) I159V possibly damaging Het
Adcy1 A G 11: 7,111,367 (GRCm39) N886S possibly damaging Het
Baz1b G A 5: 135,266,799 (GRCm39) D1203N probably damaging Het
Chmp2a A T 7: 12,766,701 (GRCm39) Y72* probably null Het
Col6a1 A T 10: 76,546,957 (GRCm39) I755N unknown Het
Defa24 T A 8: 22,224,690 (GRCm39) F46L possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Gcn1 A T 5: 115,749,081 (GRCm39) probably null Het
Gfpt2 A G 11: 49,726,478 (GRCm39) S628G probably benign Het
Ighv1-9 T A 12: 114,547,206 (GRCm39) I111F probably benign Het
Itch G A 2: 155,051,049 (GRCm39) D579N probably benign Het
Jdp2 A T 12: 85,655,132 (GRCm39) K65M probably damaging Het
Kif15 A T 9: 122,815,556 (GRCm39) E222V probably damaging Het
Map1b A G 13: 99,652,871 (GRCm39) V42A probably damaging Het
Mecom T A 3: 30,034,398 (GRCm39) E426V probably damaging Het
Meiosin T C 7: 18,834,844 (GRCm39) probably benign Het
Mfsd6 G T 1: 52,748,603 (GRCm39) Y87* probably null Het
Mybpc2 A G 7: 44,155,481 (GRCm39) V924A possibly damaging Het
Naip6 A T 13: 100,431,249 (GRCm39) M1196K probably benign Het
Nscme3l T C 19: 5,553,446 (GRCm39) I112V probably benign Het
Or52n5 A G 7: 104,588,041 (GRCm39) M103V probably damaging Het
Pcdh9 G A 14: 94,125,280 (GRCm39) P297S probably benign Het
Pold1 G A 7: 44,188,202 (GRCm39) R559C probably damaging Het
Rgs21 A G 1: 144,395,565 (GRCm39) F108L probably damaging Het
Runx1 A T 16: 92,441,183 (GRCm39) S209T possibly damaging Het
Sdccag8 G T 1: 176,642,428 (GRCm39) probably benign Het
Smc1b C T 15: 84,976,232 (GRCm39) R825Q probably benign Het
Srgap1 T C 10: 121,636,732 (GRCm39) D741G possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Homo
Tsc1 G A 2: 28,566,464 (GRCm39) V627M probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp612 A G 8: 110,815,952 (GRCm39) I347M probably damaging 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
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
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'- GCTTATACTGCCAAAACTTTAAGGC -3'
(R):5'- CTGAGAGTTCAAACTGATAGACAGC -3'

Sequencing Primer
(F):5'- CTGCCAAAACTTTAAGGCTCTTTATG -3'
(R):5'- GACAGCTTGTGTCGCTCTAACAAC -3'
Posted On 2018-05-24