Incidental Mutation 'IGL03380:Drc3'
ID 420646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drc3
Ensembl Gene ENSMUSG00000056598
Gene Name dynein regulatory complex subunit 3
Synonyms Lrrc48, m6Bei, 4930449E07Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # IGL03380
Quality Score
Status
Chromosome 11
Chromosomal Location 60244155-60285167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60268731 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 307 (E307G)
Ref Sequence ENSEMBL: ENSMUSP00000104363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094140] [ENSMUST00000108722] [ENSMUST00000108723]
AlphaFold Q9D5E4
Predicted Effect probably benign
Transcript: ENSMUST00000094140
SMART Domains Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
low complexity region 216 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108722
AA Change: E307G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: E307G

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
low complexity region 216 235 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108723
AA Change: E307G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: E307G

DomainStartEndE-ValueType
low complexity region 66 75 N/A INTRINSIC
LRR 86 106 9.24e1 SMART
LRR 108 129 1.71e1 SMART
LRR 130 153 1.49e1 SMART
low complexity region 216 235 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128905
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,574 (GRCm39) N2774D probably benign Het
Aldh1a2 T G 9: 71,162,399 (GRCm39) Y149* probably null Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgap23 A G 11: 97,343,344 (GRCm39) D542G probably damaging Het
Atp8a1 T C 5: 67,889,529 (GRCm39) E582G probably benign Het
C4b A T 17: 34,959,260 (GRCm39) V438D probably benign Het
Caps2 A G 10: 112,036,601 (GRCm39) E345G probably benign Het
Cdk19 C T 10: 40,352,908 (GRCm39) P308L probably benign Het
Dst G A 1: 34,296,881 (GRCm39) A1041T probably damaging Het
Elp2 T C 18: 24,755,537 (GRCm39) V428A probably benign Het
Eml5 G T 12: 98,840,906 (GRCm39) probably benign Het
Fam120b G A 17: 15,623,396 (GRCm39) probably benign Het
Fpr-rs6 G A 17: 20,403,245 (GRCm39) L39F possibly damaging Het
Fsd1 T C 17: 56,302,456 (GRCm39) I300T probably benign Het
Hsd17b6 T C 10: 127,830,207 (GRCm39) probably null Het
Hspa1a T C 17: 35,189,253 (GRCm39) K550R probably benign Het
Krba1 A G 6: 48,380,387 (GRCm39) H37R possibly damaging Het
Lama2 T C 10: 26,926,261 (GRCm39) D2117G probably damaging Het
Map4k2 T C 19: 6,394,620 (GRCm39) F332S possibly damaging Het
Mindy1 T C 3: 95,198,329 (GRCm39) probably benign Het
Nhsl1 T G 10: 18,399,627 (GRCm39) Y284* probably null Het
Or5b109 T A 19: 13,212,365 (GRCm39) F250L probably benign Het
Pkhd1 T A 1: 20,270,894 (GRCm39) T3220S probably damaging Het
Pramel7 A T 2: 87,321,716 (GRCm39) D106E probably benign Het
Psme3 T C 11: 101,210,852 (GRCm39) probably null Het
Rsph1 T C 17: 31,496,210 (GRCm39) E7G unknown Het
Slc13a2 T C 11: 78,289,908 (GRCm39) T469A probably benign Het
Slc30a9 C T 5: 67,473,054 (GRCm39) T46I probably benign Het
Slc37a4 T G 9: 44,311,320 (GRCm39) S204A probably benign Het
Slc8b1 T C 5: 120,657,800 (GRCm39) F88L probably damaging Het
Smpd3 C T 8: 106,986,291 (GRCm39) V504I probably benign Het
Tbx4 A G 11: 85,805,465 (GRCm39) N418S probably benign Het
Tmem132c A G 5: 127,613,506 (GRCm39) T470A probably benign Het
Tmem207 A T 16: 26,345,407 (GRCm39) C20S probably damaging Het
Usp43 G A 11: 67,766,142 (GRCm39) A761V possibly damaging Het
Vmn1r191 C T 13: 22,363,055 (GRCm39) S233N probably damaging Het
Vmn2r58 T A 7: 41,513,874 (GRCm39) E256D probably benign Het
Zc3hav1 T C 6: 38,313,493 (GRCm39) Y184C probably damaging Het
Other mutations in Drc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Drc3 APN 11 60,255,788 (GRCm39) missense probably null 0.70
IGL01457:Drc3 APN 11 60,249,475 (GRCm39) utr 5 prime probably benign
IGL02329:Drc3 APN 11 60,261,404 (GRCm39) missense probably damaging 1.00
IGL02576:Drc3 APN 11 60,261,377 (GRCm39) missense probably benign 0.01
IGL02610:Drc3 APN 11 60,261,419 (GRCm39) missense probably benign 0.40
IGL02817:Drc3 APN 11 60,275,062 (GRCm39) missense probably benign 0.16
R0020:Drc3 UTSW 11 60,261,371 (GRCm39) missense probably damaging 1.00
R1221:Drc3 UTSW 11 60,275,052 (GRCm39) missense probably benign
R1394:Drc3 UTSW 11 60,284,545 (GRCm39) missense possibly damaging 0.94
R1483:Drc3 UTSW 11 60,279,715 (GRCm39) missense probably benign 0.00
R2093:Drc3 UTSW 11 60,261,310 (GRCm39) missense probably damaging 1.00
R2151:Drc3 UTSW 11 60,265,983 (GRCm39) missense probably benign 0.15
R4631:Drc3 UTSW 11 60,255,734 (GRCm39) missense probably benign 0.02
R4796:Drc3 UTSW 11 60,254,354 (GRCm39) missense probably damaging 1.00
R4841:Drc3 UTSW 11 60,261,361 (GRCm39) missense probably benign 0.00
R4842:Drc3 UTSW 11 60,261,361 (GRCm39) missense probably benign 0.00
R5739:Drc3 UTSW 11 60,265,956 (GRCm39) missense possibly damaging 0.89
R5766:Drc3 UTSW 11 60,284,647 (GRCm39) missense probably benign 0.18
R6143:Drc3 UTSW 11 60,261,406 (GRCm39) missense possibly damaging 0.82
R6298:Drc3 UTSW 11 60,284,596 (GRCm39) missense possibly damaging 0.74
R6558:Drc3 UTSW 11 60,255,718 (GRCm39) missense probably damaging 1.00
R6611:Drc3 UTSW 11 60,255,773 (GRCm39) missense probably damaging 0.99
R6938:Drc3 UTSW 11 60,284,949 (GRCm39) critical splice acceptor site probably null
R7013:Drc3 UTSW 11 60,278,129 (GRCm39) missense probably benign 0.00
R7108:Drc3 UTSW 11 60,261,380 (GRCm39) missense probably benign 0.13
R7640:Drc3 UTSW 11 60,279,730 (GRCm39) missense probably benign
R7713:Drc3 UTSW 11 60,261,386 (GRCm39) missense probably benign
R9188:Drc3 UTSW 11 60,249,615 (GRCm39) missense probably damaging 1.00
R9500:Drc3 UTSW 11 60,261,334 (GRCm39) missense probably benign 0.19
Posted On 2016-08-02