Incidental Mutation 'R6162:Dhrs11'
ID489931
Institutional Source Beutler Lab
Gene Symbol Dhrs11
Ensembl Gene ENSMUSG00000034449
Gene Namedehydrogenase/reductase (SDR family) member 11
Synonyms
MMRRC Submission 044309-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6162 (G1)
Quality Score211.009
Status Validated
Chromosome11
Chromosomal Location84820856-84828994 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 84828779 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 40 (G40D)
Ref Sequence ENSEMBL: ENSMUSP00000043467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018547] [ENSMUST00000047560] [ENSMUST00000100686] [ENSMUST00000108081] [ENSMUST00000151496] [ENSMUST00000154915] [ENSMUST00000168434] [ENSMUST00000172405]
Predicted Effect probably benign
Transcript: ENSMUST00000018547
SMART Domains Protein: ENSMUSP00000018547
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
low complexity region 179 185 N/A INTRINSIC
coiled coil region 393 426 N/A INTRINSIC
low complexity region 570 584 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000047560
AA Change: G40D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043467
Gene: ENSMUSG00000034449
AA Change: G40D

DomainStartEndE-ValueType
Pfam:adh_short 12 214 1.4e-46 PFAM
Pfam:KR 13 154 1.7e-11 PFAM
Pfam:Epimerase 14 251 4.8e-7 PFAM
Pfam:adh_short_C2 18 245 1.8e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100686
SMART Domains Protein: ENSMUSP00000098252
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 351 388 N/A INTRINSIC
low complexity region 508 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108081
SMART Domains Protein: ENSMUSP00000103716
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126016
Predicted Effect unknown
Transcript: ENSMUST00000151496
AA Change: G40D
SMART Domains Protein: ENSMUSP00000122267
Gene: ENSMUSG00000034449
AA Change: G40D

DomainStartEndE-ValueType
Pfam:adh_short 12 49 6.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154915
SMART Domains Protein: ENSMUSP00000117482
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 351 384 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168434
SMART Domains Protein: ENSMUSP00000130013
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 351 384 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172405
SMART Domains Protein: ENSMUSP00000127584
Gene: ENSMUSG00000020530

DomainStartEndE-ValueType
coiled coil region 353 386 N/A INTRINSIC
low complexity region 530 544 N/A INTRINSIC
Meta Mutation Damage Score 0.6088 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,309,047 C2924W probably damaging Het
Adh4 T A 3: 138,415,489 probably null Het
AI464131 A G 4: 41,497,899 V577A possibly damaging Het
Aox3 A T 1: 58,159,731 D695V possibly damaging Het
Ccnj A G 19: 40,845,162 Y221C probably damaging Het
Cct2 T A 10: 117,058,186 D221V probably damaging Het
Cd5 G A 19: 10,725,880 T138M probably damaging Het
Cep78 A T 19: 15,974,940 M307K probably benign Het
Dclk1 C A 3: 55,256,154 D222E probably benign Het
Dnah10 A G 5: 124,823,318 S3823G probably benign Het
Dock3 A T 9: 106,964,799 Y944N possibly damaging Het
Dst A G 1: 34,006,237 D17G probably damaging Het
Ehmt2 C T 17: 34,899,091 R40* probably null Het
Fam20a G T 11: 109,682,870 S229* probably null Het
Fbn1 T C 2: 125,360,227 D1242G probably damaging Het
Ggt5 T A 10: 75,589,792 V28D possibly damaging Het
Gimap4 A T 6: 48,690,721 I137F probably damaging Het
Git2 T A 5: 114,761,656 H212L probably damaging Het
Gprc6a T A 10: 51,614,912 I739F probably benign Het
Il1rl2 A G 1: 40,351,878 Y327C probably damaging Het
Lmf1 A G 17: 25,612,394 I205V probably benign Het
Mipep C A 14: 60,787,404 P98Q probably damaging Het
Mroh2b A G 15: 4,915,225 D436G probably damaging Het
Notch1 C T 2: 26,462,195 V2035I probably benign Het
Olfr1223 G T 2: 89,144,770 F84L probably benign Het
Olfr388-ps1 T A 11: 73,724,887 I46F probably damaging Het
Olfr698 A T 7: 106,753,020 Y123N probably damaging Het
Oxa1l A G 14: 54,368,332 T395A probably damaging Het
Phospho2 T A 2: 69,796,031 I177K probably damaging Het
Prpf40a T C 2: 53,159,305 T224A probably benign Het
Reln T A 5: 21,911,050 T2987S probably damaging Het
Scn5a T A 9: 119,522,555 I787F probably damaging Het
Sgsm2 A T 11: 74,892,021 D36E probably damaging Het
Slc12a3 A G 8: 94,345,773 probably null Het
Soga1 T A 2: 157,039,864 E756V possibly damaging Het
Tas2r134 T C 2: 51,627,559 S17P probably damaging Het
Top3a T C 11: 60,745,937 Y609C probably damaging Het
Trem2 A G 17: 48,348,666 I84V probably damaging Het
Vmn2r12 A G 5: 109,086,564 L594P probably damaging Het
Wdr63 T A 3: 146,044,862 I821F probably damaging Het
Zdbf2 A T 1: 63,280,818 probably benign Het
Zfr C T 15: 12,146,245 A294V unknown Het
Other mutations in Dhrs11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02217:Dhrs11 APN 11 84822395 nonsense probably null
R0023:Dhrs11 UTSW 11 84823150 missense probably damaging 1.00
R1583:Dhrs11 UTSW 11 84823117 missense probably damaging 1.00
R1985:Dhrs11 UTSW 11 84828807 missense probably damaging 1.00
R2433:Dhrs11 UTSW 11 84828919 unclassified probably benign
R3911:Dhrs11 UTSW 11 84821753 missense probably damaging 1.00
R4510:Dhrs11 UTSW 11 84825516 makesense probably null
R4511:Dhrs11 UTSW 11 84825516 makesense probably null
R4798:Dhrs11 UTSW 11 84828800 missense probably benign 0.03
R5936:Dhrs11 UTSW 11 84825524 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTCTCAAGGCCGTTGCAAATG -3'
(R):5'- GGAGCCACCGATCTTCAGTAAC -3'

Sequencing Primer
(F):5'- TTGCAAATGGCCCTAGGG -3'
(R):5'- GATCTTCAGTAACCCCAGACTAAG -3'
Posted On2017-10-10