Incidental Mutation 'R8714:Dhrs13'
ID 669782
Institutional Source Beutler Lab
Gene Symbol Dhrs13
Ensembl Gene ENSMUSG00000020834
Gene Name dehydrogenase/reductase 13
Synonyms 2610209N15Rik, dehydrogenase/reductase (SDR family) member 13
MMRRC Submission 068568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R8714 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 77923139-77928690 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 77923492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Proline at position 70 (R70P)
Ref Sequence ENSEMBL: ENSMUSP00000021187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021187] [ENSMUST00000049167] [ENSMUST00000092881] [ENSMUST00000122342] [ENSMUST00000131680] [ENSMUST00000144028]
AlphaFold Q5SS80
Predicted Effect possibly damaging
Transcript: ENSMUST00000021187
AA Change: R70P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021187
Gene: ENSMUSG00000020834
AA Change: R70P

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:KR 37 176 1.6e-10 PFAM
Pfam:adh_short 37 238 6e-32 PFAM
Pfam:Epimerase 39 256 3.4e-7 PFAM
low complexity region 317 342 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000049167
SMART Domains Protein: ENSMUSP00000044990
Gene: ENSMUSG00000037791

DomainStartEndE-ValueType
low complexity region 37 52 N/A INTRINSIC
PHD 58 103 7.23e-11 SMART
low complexity region 182 200 N/A INTRINSIC
Pfam:PHF12_MRG_bd 202 241 1.3e-21 PFAM
PHD 273 319 1.66e-10 SMART
low complexity region 616 630 N/A INTRINSIC
Blast:FHA 813 868 9e-34 BLAST
low complexity region 905 916 N/A INTRINSIC
low complexity region 927 939 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000092881
AA Change: R70P

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090557
Gene: ENSMUSG00000020834
AA Change: R70P

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Pfam:adh_short 37 111 3.2e-9 PFAM
Pfam:NAD_binding_10 39 116 7.6e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122342
AA Change: R20P

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112553
Gene: ENSMUSG00000020834
AA Change: R20P

DomainStartEndE-ValueType
Pfam:adh_short 1 131 9.1e-17 PFAM
low complexity region 267 292 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131680
Predicted Effect probably benign
Transcript: ENSMUST00000144028
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,100,093 (GRCm39) A137T probably benign Het
4930474N05Rik T A 14: 35,818,456 (GRCm39) C151* probably null Het
Abca4 A G 3: 121,942,528 (GRCm39) T1674A probably benign Het
Acat3 A T 17: 13,147,516 (GRCm39) V167E probably benign Het
Alb T C 5: 90,608,874 (GRCm39) probably null Het
Apol9a T C 15: 77,288,942 (GRCm39) T142A probably benign Het
Asb14 C T 14: 26,623,032 (GRCm39) P135S possibly damaging Het
Asb17 A G 3: 153,556,313 (GRCm39) Y140C probably damaging Het
Atp4a T A 7: 30,420,013 (GRCm39) I750N probably damaging Het
Bard1 T C 1: 71,069,986 (GRCm39) Y664C probably damaging Het
Cacnb3 G A 15: 98,530,262 (GRCm39) probably benign Het
Card11 T A 5: 140,899,147 (GRCm39) D9V possibly damaging Het
Casp8 A T 1: 58,872,812 (GRCm39) Q229H possibly damaging Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Cd209d CAT C 8: 3,923,772 (GRCm39) probably null Het
Cep350 T C 1: 155,736,477 (GRCm39) D2853G probably damaging Het
Cfap161 T C 7: 83,442,482 (GRCm39) I110M probably benign Het
Chid1 T A 7: 141,093,678 (GRCm39) K313* probably null Het
Col16a1 T A 4: 129,947,961 (GRCm39) I227N unknown Het
D3Ertd751e G T 3: 41,700,998 (GRCm39) E6* probably null Het
Ddx41 T C 13: 55,682,250 (GRCm39) Q208R probably damaging Het
Dmrta1 A T 4: 89,579,682 (GRCm39) Q214L probably benign Het
Eif2ak4 T C 2: 118,292,765 (GRCm39) F1330L possibly damaging Het
Fbxw13 C T 9: 109,023,832 (GRCm39) V71I probably benign Het
H2-Q2 T C 17: 35,562,338 (GRCm39) L195P possibly damaging Het
Hemgn C T 4: 46,395,904 (GRCm39) G444D probably damaging Het
Lmtk2 A G 5: 144,112,876 (GRCm39) T1199A probably damaging Het
Ly75 T C 2: 60,164,829 (GRCm39) D783G probably damaging Het
Micall1 G A 15: 79,011,510 (GRCm39) A627T probably benign Het
Morc2a C T 11: 3,625,877 (GRCm39) T159I probably benign Het
Mthfr C A 4: 148,126,275 (GRCm39) N115K probably damaging Het
Muc1 G A 3: 89,138,821 (GRCm39) V477M possibly damaging Het
Mug1 C T 6: 121,859,681 (GRCm39) P1227S probably benign Het
Ogfod3 T A 11: 121,087,608 (GRCm39) D163V possibly damaging Het
Or51a43 T A 7: 103,717,483 (GRCm39) I252F probably damaging Het
Pcnx2 C T 8: 126,500,546 (GRCm39) V1515I probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr3 G T 11: 69,738,838 (GRCm39) G167C probably benign Het
Plxna4 T A 6: 32,140,379 (GRCm39) K1670* probably null Het
Prb1c G A 6: 132,341,051 (GRCm39) T7I unknown Het
Rab7 T C 6: 87,989,369 (GRCm39) S34G probably damaging Het
Rnf157 C A 11: 116,237,891 (GRCm39) A577S probably benign Het
Rnf213 C T 11: 119,359,720 (GRCm39) S4371L Het
S1pr1 A T 3: 115,505,470 (GRCm39) S375T probably benign Het
Spen T C 4: 141,215,314 (GRCm39) N506S unknown Het
Sulf1 T A 1: 12,878,141 (GRCm39) Y210N probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tg A G 15: 66,555,891 (GRCm39) N861S probably damaging Het
Ttc29 A G 8: 79,060,331 (GRCm39) E417G possibly damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ubxn7 T A 16: 32,186,229 (GRCm39) probably benign Het
Vmn1r62 C A 7: 5,678,629 (GRCm39) Y103* probably null Het
Zfp804b A T 5: 6,822,378 (GRCm39) Y228* probably null Het
Other mutations in Dhrs13
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0594:Dhrs13 UTSW 11 77,925,351 (GRCm39) missense probably damaging 0.98
R0684:Dhrs13 UTSW 11 77,927,789 (GRCm39) missense probably damaging 1.00
R0890:Dhrs13 UTSW 11 77,925,176 (GRCm39) missense probably null 1.00
R4424:Dhrs13 UTSW 11 77,927,951 (GRCm39) nonsense probably null
R5038:Dhrs13 UTSW 11 77,923,256 (GRCm39) unclassified probably benign
R6151:Dhrs13 UTSW 11 77,927,808 (GRCm39) missense probably damaging 1.00
R6306:Dhrs13 UTSW 11 77,923,519 (GRCm39) missense probably damaging 0.97
R6765:Dhrs13 UTSW 11 77,927,965 (GRCm39) missense probably benign
R7177:Dhrs13 UTSW 11 77,925,208 (GRCm39) missense probably benign 0.05
R7525:Dhrs13 UTSW 11 77,923,260 (GRCm39) missense unknown
R8210:Dhrs13 UTSW 11 77,924,302 (GRCm39) missense unknown
R8363:Dhrs13 UTSW 11 77,925,343 (GRCm39) missense probably damaging 0.99
R8669:Dhrs13 UTSW 11 77,923,492 (GRCm39) missense possibly damaging 0.86
R8693:Dhrs13 UTSW 11 77,923,492 (GRCm39) missense possibly damaging 0.86
R8739:Dhrs13 UTSW 11 77,923,492 (GRCm39) missense possibly damaging 0.86
R8922:Dhrs13 UTSW 11 77,923,425 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- CTTGTCTACTACAACCTGGTGAAGG -3'
(R):5'- TTAAAGACCACAGCAGTCCCTG -3'

Sequencing Primer
(F):5'- ACGGTCGTGGTCACTGG -3'
(R):5'- GCATCTTCCTCTCTGTTTAAGGG -3'
Posted On 2021-04-30