Incidental Mutation 'R0519:Hsdl1'
ID 48392
Institutional Source Beutler Lab
Gene Symbol Hsdl1
Ensembl Gene ENSMUSG00000034189
Gene Name hydroxysteroid dehydrogenase like 1
Synonyms 2700067E09Rik
MMRRC Submission 038712-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # R0519 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 120288728-120301922 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120292450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 255 (A255V)
Ref Sequence ENSEMBL: ENSMUSP00000148352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036049] [ENSMUST00000212065] [ENSMUST00000212198] [ENSMUST00000212517]
AlphaFold Q8BTX9
Predicted Effect probably benign
Transcript: ENSMUST00000036049
AA Change: A276V

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000044371
Gene: ENSMUSG00000034189
AA Change: A276V

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
Predicted Effect probably benign
Transcript: ENSMUST00000212198
Predicted Effect probably damaging
Transcript: ENSMUST00000212517
AA Change: A255V

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
Meta Mutation Damage Score 0.3678 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency 99% (74/75)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,696,067 (GRCm39) R168G probably benign Het
2810004N23Rik C T 8: 125,566,668 (GRCm39) G251R possibly damaging Het
3425401B19Rik A G 14: 32,384,919 (GRCm39) S349P possibly damaging Het
Ackr4 A G 9: 103,976,650 (GRCm39) V99A probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Asxl3 A G 18: 22,656,577 (GRCm39) Q1529R possibly damaging Het
Atg12 T C 18: 46,874,477 (GRCm39) E46G probably benign Het
Cdcp2 A G 4: 106,964,389 (GRCm39) probably benign Het
Clasrp A G 7: 19,318,089 (GRCm39) probably benign Het
Clip2 A G 5: 134,545,005 (GRCm39) V383A probably benign Het
Cntln C T 4: 84,923,290 (GRCm39) probably benign Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Csmd2 A C 4: 128,380,798 (GRCm39) Y2118S possibly damaging Het
Dip2c T A 13: 9,613,244 (GRCm39) V415E probably damaging Het
Dpy19l2 C T 9: 24,469,391 (GRCm39) R755Q probably benign Het
Dsn1 A T 2: 156,840,633 (GRCm39) probably benign Het
Dtd2 T C 12: 52,051,742 (GRCm39) probably benign Het
Dync1i1 A G 6: 6,027,399 (GRCm39) T602A probably benign Het
Ercc6 A C 14: 32,248,799 (GRCm39) D450A probably damaging Het
Fgf12 A T 16: 28,008,380 (GRCm39) V104D probably benign Het
Frem1 A T 4: 82,888,870 (GRCm39) probably null Het
Gcgr G T 11: 120,426,982 (GRCm39) W88L probably damaging Het
Glb1 ACCC ACC 9: 114,250,812 (GRCm39) probably null Het
Hapln1 A G 13: 89,732,835 (GRCm39) probably benign Het
Hmgn3 T C 9: 82,994,301 (GRCm39) E40G probably damaging Het
Hyls1 T C 9: 35,472,499 (GRCm39) K306E probably damaging Het
Jcad C T 18: 4,649,122 (GRCm39) probably benign Het
Kif14 C A 1: 136,396,885 (GRCm39) A397E probably damaging Het
Lcmt2 A T 2: 120,969,825 (GRCm39) probably null Het
Lifr T C 15: 7,207,061 (GRCm39) L524P probably damaging Het
Ly6g6f T C 17: 35,301,828 (GRCm39) K209E possibly damaging Het
Macf1 G A 4: 123,365,113 (GRCm39) T1651I probably benign Het
Mapk4 T C 18: 74,103,392 (GRCm39) D39G probably damaging Het
Mbl1 A G 14: 40,880,522 (GRCm39) M137V probably damaging Het
Mcm10 G A 2: 5,013,356 (GRCm39) S92L probably benign Het
Mug1 A G 6: 121,828,383 (GRCm39) K265R possibly damaging Het
Mxra7 A G 11: 116,701,612 (GRCm39) probably null Het
Neu3 G A 7: 99,472,524 (GRCm39) probably benign Het
Nsd1 A G 13: 55,460,648 (GRCm39) T2395A probably benign Het
Or1j1 T A 2: 36,702,627 (GRCm39) H159L probably damaging Het
Or5m9 A T 2: 85,877,411 (GRCm39) Y195F probably benign Het
Or6s1 T A 14: 51,308,614 (GRCm39) I79F probably damaging Het
Or7g34 A T 9: 19,478,245 (GRCm39) I145N probably benign Het
Osgepl1 T C 1: 53,360,255 (GRCm39) V327A probably damaging Het
Pcdhb21 T C 18: 37,649,085 (GRCm39) V738A possibly damaging Het
Plekha8 A T 6: 54,599,092 (GRCm39) probably benign Het
Ptprq A C 10: 107,374,781 (GRCm39) probably benign Het
Pus10 T A 11: 23,661,201 (GRCm39) F263Y probably benign Het
Rad54b A T 4: 11,599,809 (GRCm39) I338F probably damaging Het
Rad54l2 A G 9: 106,585,498 (GRCm39) F756L probably damaging Het
Scn11a A G 9: 119,619,185 (GRCm39) L719P probably damaging Het
Slc2a2 G A 3: 28,772,965 (GRCm39) V253I possibly damaging Het
Slc39a4 A T 15: 76,499,338 (GRCm39) N192K probably benign Het
Soat1 T A 1: 156,268,816 (GRCm39) I245F probably damaging Het
Sorcs2 G A 5: 36,188,534 (GRCm39) A858V probably benign Het
Tcim T C 8: 24,928,651 (GRCm39) T88A possibly damaging Het
Tecta G A 9: 42,259,188 (GRCm39) probably benign Het
Tgm5 C A 2: 120,879,376 (GRCm39) L553F probably damaging Het
Tjp1 A G 7: 64,952,669 (GRCm39) V1555A probably benign Het
Tmem214 A C 5: 31,027,012 (GRCm39) M1L probably null Het
Togaram1 T C 12: 65,012,776 (GRCm39) probably benign Het
Topaz1 C A 9: 122,578,544 (GRCm39) L485I possibly damaging Het
Ttn T C 2: 76,548,626 (GRCm39) probably benign Het
Ube2o A G 11: 116,437,285 (GRCm39) probably null Het
Ubr7 T A 12: 102,734,465 (GRCm39) D246E probably benign Het
Vcpkmt T C 12: 69,629,102 (GRCm39) D132G probably benign Het
Vmn2r111 T A 17: 22,792,102 (GRCm39) Q51H probably benign Het
Vmn2r95 C T 17: 18,659,765 (GRCm39) P170S probably damaging Het
Zbtb38 A G 9: 96,567,826 (GRCm39) I1086T probably damaging Het
Zfp444 G A 7: 6,191,172 (GRCm39) A118T probably benign Het
Zp2 A G 7: 119,737,372 (GRCm39) I272T probably damaging Het
Other mutations in Hsdl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Hsdl1 APN 8 120,293,153 (GRCm39) missense probably benign 0.45
IGL03349:Hsdl1 APN 8 120,292,436 (GRCm39) missense probably benign 0.41
R0106:Hsdl1 UTSW 8 120,292,517 (GRCm39) missense probably damaging 0.98
R0201:Hsdl1 UTSW 8 120,292,995 (GRCm39) missense possibly damaging 0.46
R4976:Hsdl1 UTSW 8 120,292,606 (GRCm39) missense possibly damaging 0.75
R5119:Hsdl1 UTSW 8 120,292,606 (GRCm39) missense possibly damaging 0.75
R6799:Hsdl1 UTSW 8 120,293,169 (GRCm39) missense probably benign 0.00
R7096:Hsdl1 UTSW 8 120,293,064 (GRCm39) missense possibly damaging 0.91
R7198:Hsdl1 UTSW 8 120,294,607 (GRCm39) missense probably benign 0.00
R7328:Hsdl1 UTSW 8 120,292,830 (GRCm39) missense probably benign 0.33
R7810:Hsdl1 UTSW 8 120,294,711 (GRCm39) missense probably damaging 1.00
R7974:Hsdl1 UTSW 8 120,293,072 (GRCm39) missense probably benign 0.01
R8964:Hsdl1 UTSW 8 120,292,899 (GRCm39) missense probably benign 0.10
R9024:Hsdl1 UTSW 8 120,290,839 (GRCm39) missense probably benign 0.01
R9681:Hsdl1 UTSW 8 120,293,081 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- TGCAAGGAGCATTTCCCCTTCAG -3'
(R):5'- TACGTTGGCACTTTCCCCACAG -3'

Sequencing Primer
(F):5'- CAAAGCAGCCTGTTTCCTG -3'
(R):5'- AAGTTCCTTCCAGGTCATAAGTC -3'
Posted On 2013-06-12