Incidental Mutation 'IGL01319:Drc3'
ID 73988
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 # IGL01319
Quality Score
Status
Chromosome 11
Chromosomal Location 60244155-60285167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60255788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000091691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070805] [ENSMUST00000094140] [ENSMUST00000108722] [ENSMUST00000108723]
AlphaFold Q9D5E4
Predicted Effect probably null
Transcript: ENSMUST00000070805
AA Change: D125G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: D125G

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
Predicted Effect probably null
Transcript: ENSMUST00000094140
AA Change: D125G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: D125G

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 null
Transcript: ENSMUST00000108722
AA Change: D125G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: D125G

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 null
Transcript: ENSMUST00000108723
AA Change: D125G

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: D125G

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T A 3: 40,888,077 (GRCm39) V307E probably benign Het
Bub1b T C 2: 118,445,475 (GRCm39) I265T possibly damaging Het
Cemip2 C T 19: 21,822,121 (GRCm39) P1172L possibly damaging Het
Cntnap3 G A 13: 64,935,651 (GRCm39) T404I probably damaging Het
Disc1 T C 8: 125,814,630 (GRCm39) S165P probably damaging Het
Dock1 T C 7: 134,391,007 (GRCm39) F756L probably benign Het
Dock2 A G 11: 34,589,617 (GRCm39) V480A possibly damaging Het
Emid1 C T 11: 5,093,859 (GRCm39) C96Y probably damaging Het
F13b A G 1: 139,434,531 (GRCm39) N99S probably damaging Het
Fam20a A G 11: 109,569,284 (GRCm39) probably benign Het
Fancd2 C A 6: 113,561,860 (GRCm39) T1243K probably damaging Het
Fbxw14 T C 9: 109,107,859 (GRCm39) K172E probably damaging Het
Gm13941 T C 2: 110,925,150 (GRCm39) probably null Het
Gtpbp4 A T 13: 9,035,296 (GRCm39) N354K probably benign Het
Igkv2-116 T C 6: 68,129,388 (GRCm39) L50P probably benign Het
Klrb1-ps1 C T 6: 129,093,548 (GRCm39) P23L possibly damaging Het
Kng2 T A 16: 22,847,584 (GRCm39) I26F probably damaging Het
Krt81 G A 15: 101,361,269 (GRCm39) H104Y probably benign Het
Lrpprc T C 17: 85,012,840 (GRCm39) probably benign Het
Man2a2 C T 7: 80,010,880 (GRCm39) V704M possibly damaging Het
Mbip A G 12: 56,377,027 (GRCm39) V303A probably benign Het
Mipep A T 14: 61,080,720 (GRCm39) M571L probably benign Het
Ncan A T 8: 70,550,212 (GRCm39) V1188D probably damaging Het
Pcdhb4 T C 18: 37,441,566 (GRCm39) V292A probably benign Het
Pkd1 T C 17: 24,806,893 (GRCm39) probably benign Het
Ppp2r2c T A 5: 37,104,465 (GRCm39) S282T possibly damaging Het
Rad54l2 C T 9: 106,596,245 (GRCm39) G231D probably benign Het
Rnf20 T G 4: 49,649,326 (GRCm39) D443E probably damaging Het
Rptor A G 11: 119,781,996 (GRCm39) M1108V probably benign Het
Serpine2 A G 1: 79,788,411 (GRCm39) V182A probably damaging Het
Sesn2 C T 4: 132,227,278 (GRCm39) probably benign Het
Shank1 C A 7: 44,002,547 (GRCm39) A1422E possibly damaging Het
Skic3 A G 13: 76,277,498 (GRCm39) H491R probably benign Het
Slc13a4 C T 6: 35,284,288 (GRCm39) probably null Het
Snrnp200 T C 2: 127,072,047 (GRCm39) probably benign Het
Src G A 2: 157,311,423 (GRCm39) G461R probably damaging Het
Tbxas1 A G 6: 38,994,907 (GRCm39) I178V probably benign Het
Triml1 A G 8: 43,594,434 (GRCm39) probably benign Het
Tsen2 A T 6: 115,553,945 (GRCm39) Q441L probably damaging Het
Ttc23l A G 15: 10,509,492 (GRCm39) probably benign Het
Ttn T C 2: 76,711,648 (GRCm39) probably benign Het
Vsig10l C T 7: 43,114,678 (GRCm39) S293L probably damaging Het
Zcchc13 C A X: 102,674,606 (GRCm39) Q110K possibly damaging Het
Other mutations in Drc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03380:Drc3 APN 11 60,268,731 (GRCm39) missense probably benign 0.01
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 2013-10-07