Incidental Mutation 'R6696:Dhrs7l'
ID 528597
Institutional Source Beutler Lab
Gene Symbol Dhrs7l
Ensembl Gene ENSMUSG00000109482
Gene Name dehydrogenase/reductase 7 like 1
Synonyms Gm4756
MMRRC Submission 044814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R6696 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 72666893-72675795 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72666255 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 139 (A139T)
Ref Sequence ENSEMBL: ENSMUSP00000146963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207585] [ENSMUST00000208039] [ENSMUST00000208307] [ENSMUST00000209038] [ENSMUST00000209092]
AlphaFold A0A140LIS8
Predicted Effect possibly damaging
Transcript: ENSMUST00000207585
AA Change: A139T

PolyPhen 2 Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000208039
AA Change: A190T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000208307
AA Change: A93T

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209038
AA Change: A139T

PolyPhen 2 Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000209092
Predicted Effect unknown
Transcript: ENSMUST00000222413
AA Change: A184T
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222501
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.0%
Validation Efficiency 100% (48/48)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap25 G T 6: 87,442,633 (GRCm39) H350Q probably damaging Het
Arhgap25 C A 6: 87,443,545 (GRCm39) V305F probably damaging Het
Atg3 A T 16: 44,995,644 (GRCm39) I126F possibly damaging Het
Best2 A T 8: 85,737,873 (GRCm39) L174* probably null Het
Ccdc134 T A 15: 82,015,722 (GRCm39) D67E probably damaging Het
Coasy G T 11: 100,973,927 (GRCm39) R31L possibly damaging Het
Col5a3 C T 9: 20,690,329 (GRCm39) G1162R probably damaging Het
Eipr1 C A 12: 28,909,357 (GRCm39) T208N probably benign Het
Epha2 A G 4: 141,048,850 (GRCm39) T606A probably benign Het
Fan1 A T 7: 63,999,826 (GRCm39) I853N probably damaging Het
Fbxw18 A C 9: 109,517,832 (GRCm39) S385A probably benign Het
Galnt11 T C 5: 25,460,112 (GRCm39) V307A probably benign Het
Gata3 A T 2: 9,879,303 (GRCm39) Y224* probably null Het
Gm527 T C 12: 64,967,866 (GRCm39) M96T possibly damaging Het
Hivep2 T C 10: 14,009,503 (GRCm39) F1720S probably benign Het
Hltf T G 3: 20,119,470 (GRCm39) probably null Het
Imp4 T C 1: 34,483,327 (GRCm39) V247A probably benign Het
Iqca1 G A 1: 90,057,922 (GRCm39) T259I probably benign Het
Klra6 A G 6: 129,993,696 (GRCm39) F192L probably benign Het
Lnp1 T C 16: 56,748,149 (GRCm39) K48E possibly damaging Het
Lrp4 A G 2: 91,327,690 (GRCm39) D1513G probably benign Het
Lrrc25 G A 8: 71,071,015 (GRCm39) probably null Het
Macf1 T A 4: 123,403,596 (GRCm39) Y590F probably damaging Het
Mms19 C A 19: 41,942,452 (GRCm39) V359L probably benign Het
Mns1 G A 9: 72,360,044 (GRCm39) R398Q probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nme3 G T 17: 25,116,268 (GRCm39) C158F possibly damaging Het
Pam T A 1: 97,813,452 (GRCm39) H326L possibly damaging Het
Plcxd1 A G 5: 110,249,751 (GRCm39) N151S possibly damaging Het
Prep A T 10: 45,029,174 (GRCm39) N525Y probably damaging Het
Rab11fip5 T C 6: 85,318,928 (GRCm39) I654V possibly damaging Het
Sbf2 T A 7: 110,159,505 (GRCm39) Q35L probably benign Het
Shcbp1 A G 8: 4,789,262 (GRCm39) F519S probably damaging Het
Slc18a3 T C 14: 32,186,270 (GRCm39) I38V possibly damaging Het
Slc5a2 A T 7: 127,869,215 (GRCm39) I332F probably damaging Het
Slc7a7 C T 14: 54,615,218 (GRCm39) probably null Het
Srbd1 C T 17: 86,446,619 (GRCm39) V47I possibly damaging Het
Synj1 C G 16: 90,757,340 (GRCm39) V877L probably damaging Het
Tgfbr3 C T 5: 107,284,796 (GRCm39) V618I probably benign Het
Tmem191 C T 16: 17,100,886 (GRCm39) probably null Het
Tmem67 C A 4: 12,061,754 (GRCm39) probably null Het
Tmem94 C T 11: 115,682,814 (GRCm39) A617V probably damaging Het
Vmn1r71 T A 7: 10,482,401 (GRCm39) I96F probably damaging Het
Vmn2r7 A T 3: 64,614,495 (GRCm39) F440I probably benign Het
Wdr7 A G 18: 63,872,401 (GRCm39) Q445R probably benign Het
Wnk1 A G 6: 119,925,243 (GRCm39) L1407P probably damaging Het
Other mutations in Dhrs7l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6233:Dhrs7l UTSW 12 72,666,341 (GRCm39) missense probably damaging 1.00
R6579:Dhrs7l UTSW 12 72,668,658 (GRCm39) missense probably benign 0.01
R6619:Dhrs7l UTSW 12 72,668,724 (GRCm39) missense possibly damaging 0.74
R7246:Dhrs7l UTSW 12 72,666,266 (GRCm39) missense possibly damaging 0.47
R7923:Dhrs7l UTSW 12 72,666,132 (GRCm39) missense probably benign 0.01
R8349:Dhrs7l UTSW 12 72,659,340 (GRCm39) missense probably damaging 1.00
R8449:Dhrs7l UTSW 12 72,659,340 (GRCm39) missense probably damaging 1.00
R8905:Dhrs7l UTSW 12 72,666,431 (GRCm39) missense probably damaging 1.00
R9533:Dhrs7l UTSW 12 72,675,050 (GRCm39) intron probably benign
Z1177:Dhrs7l UTSW 12 72,675,512 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCAGGATTCATCTCATGCAGGTAC -3'
(R):5'- TCTGGTCAACAATGGTGGAG -3'

Sequencing Primer
(F):5'- ACTGGTGTTGTAGCCTCAAAG -3'
(R):5'- GAAACCAATTATTGCTTTGCTGTGG -3'
Posted On 2018-07-24