Incidental Mutation 'R8669:Dhrs13'
ID 661060
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 068524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R8669 (G1)
Quality Score 126.008
Status 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 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A T 12: 72,949,234 (GRCm39) S305T probably benign Het
Ankrd42 A G 7: 92,268,881 (GRCm39) V154A possibly damaging Het
Apc2 C T 10: 80,149,491 (GRCm39) T1515I probably damaging Het
Blzf1 T A 1: 164,130,113 (GRCm39) N80Y possibly damaging Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc125 T C 13: 100,832,683 (GRCm39) L420P probably damaging Het
Ccdc162 T C 10: 41,428,352 (GRCm39) T1976A probably benign Het
Cdc20b C T 13: 113,208,460 (GRCm39) P219S possibly damaging Het
Cep89 A G 7: 35,128,602 (GRCm39) D585G probably benign Het
Crnn A T 3: 93,056,296 (GRCm39) R361* probably null Het
Defb5 A G 8: 19,300,761 (GRCm39) I38V probably benign Het
Defb8 A G 8: 19,495,973 (GRCm39) V29A probably benign Het
Dgkh A G 14: 78,962,459 (GRCm39) V24A probably benign Het
Dnah12 A T 14: 26,552,582 (GRCm39) probably benign Het
Dsg2 A G 18: 20,723,132 (GRCm39) N386S probably damaging Het
Dyrk1a G T 16: 94,464,650 (GRCm39) R77L probably damaging Het
Fbxw19 G T 9: 109,313,482 (GRCm39) L239I probably benign Het
Gal3st2b A T 1: 93,868,764 (GRCm39) I332L possibly damaging Het
Gcnt1 T G 19: 17,307,143 (GRCm39) K194T probably benign Het
Gm7298 T C 6: 121,742,002 (GRCm39) W475R probably benign Het
Gpatch1 C A 7: 34,991,204 (GRCm39) W613C probably damaging Het
Gulp1 T A 1: 44,805,270 (GRCm39) S120T probably benign Het
Ift122 C A 6: 115,900,252 (GRCm39) Q946K probably damaging Het
Itpr1 T A 6: 108,370,928 (GRCm39) L1065H probably damaging Het
Kcnq5 T C 1: 21,476,050 (GRCm39) D579G probably damaging Het
Klhl40 T A 9: 121,607,088 (GRCm39) S83T probably benign Het
Krt19 T C 11: 100,031,993 (GRCm39) K320E probably damaging Het
Krt87 C A 15: 101,385,777 (GRCm39) V273L probably benign Het
Lgals4 C T 7: 28,540,921 (GRCm39) R282C probably damaging Het
Lrp1b A G 2: 41,172,047 (GRCm39) probably null Het
Lrrk1 G A 7: 65,912,344 (GRCm39) L1739F probably benign Het
Mthfr A G 4: 148,135,934 (GRCm39) N336D probably benign Het
Myo6 T G 9: 80,173,531 (GRCm39) L557R unknown Het
Naip2 T C 13: 100,325,477 (GRCm39) S144G probably benign Het
Nfatc1 T C 18: 80,725,406 (GRCm39) K453E probably damaging Het
Or52ab7 A T 7: 102,978,281 (GRCm39) D196V probably benign Het
Osm A T 11: 4,189,665 (GRCm39) I150L probably benign Het
Phtf1 T A 3: 103,910,792 (GRCm39) N639K probably benign Het
Prpf40b T A 15: 99,201,228 (GRCm39) M1K probably null Het
Rhbdl3 G A 11: 80,244,339 (GRCm39) V349M probably damaging Het
Senp7 T C 16: 55,986,315 (GRCm39) S582P probably damaging Het
Slc16a14 A G 1: 84,900,605 (GRCm39) S127P probably benign Het
Slc22a21 C T 11: 53,870,643 (GRCm39) W14* probably null Het
Slc6a18 T A 13: 73,812,430 (GRCm39) E553D probably benign Het
Speer4a1 T G 5: 26,243,236 (GRCm39) N83T probably damaging Het
Svep1 T A 4: 58,070,119 (GRCm39) S2556C possibly damaging Het
Tc2n T C 12: 101,660,851 (GRCm39) N127S probably damaging Het
Tcstv7b C A 13: 120,702,338 (GRCm39) P45T probably benign Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Thra T C 11: 98,654,476 (GRCm39) V282A possibly damaging Het
Tmem161b A T 13: 84,420,288 (GRCm39) probably null Het
Tmem218 C T 9: 37,133,815 (GRCm39) A85V probably benign Het
Txnip T C 3: 96,466,252 (GRCm39) Y100H probably damaging Het
Unc5c A G 3: 141,509,704 (GRCm39) D728G possibly damaging Het
Zfp462 T A 4: 55,051,313 (GRCm39) I2262K probably damaging Het
Zfp804a A T 2: 82,088,106 (GRCm39) D645V probably damaging 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
R8693:Dhrs13 UTSW 11 77,923,492 (GRCm39) missense possibly damaging 0.86
R8714: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 2021-03-08