Incidental Mutation 'IGL02329:Drc3'
ID288597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drc3
Ensembl Gene ENSMUSG00000056598
Gene Namedynein regulatory complex subunit 3
Synonyms4930449E07Rik, Lrrc48, m6Bei
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.085) question?
Stock #IGL02329
Quality Score
Status
Chromosome11
Chromosomal Location60353329-60394341 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 60370578 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 185 (L185P)
Ref Sequence ENSEMBL: ENSMUSP00000104363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070805] [ENSMUST00000094140] [ENSMUST00000108722] [ENSMUST00000108723]
Predicted Effect probably damaging
Transcript: ENSMUST00000070805
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: L185P

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 damaging
Transcript: ENSMUST00000094140
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: L185P

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 damaging
Transcript: ENSMUST00000108722
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: L185P

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 damaging
Transcript: ENSMUST00000108723
AA Change: L185P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: L185P

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik A T 1: 177,743,301 Q67L probably benign Het
Atg2a T C 19: 6,249,929 probably null Het
Bfsp1 T C 2: 143,862,646 T96A probably benign Het
Btnl1 A G 17: 34,382,265 E322G possibly damaging Het
Cand2 T C 6: 115,789,607 V391A probably damaging Het
Ccdc169 A G 3: 55,171,281 M188V probably benign Het
Cngb1 T C 8: 95,242,359 I1174V probably benign Het
Cpeb4 T C 11: 31,872,316 V10A possibly damaging Het
Cpt1b T C 15: 89,423,739 T206A probably benign Het
Dapk3 T C 10: 81,190,165 S97P probably benign Het
Efr3b T C 12: 3,992,923 probably null Het
Erbb3 T A 10: 128,573,219 I742F probably damaging Het
Fktn A G 4: 53,720,181 Y65C probably benign Het
Fstl5 G A 3: 76,588,995 G355D probably damaging Het
Grm8 A T 6: 27,363,116 I800N probably damaging Het
Gss C T 2: 155,567,853 R221H probably benign Het
H2-M10.4 A T 17: 36,460,467 V273D probably damaging Het
Large1 C A 8: 73,048,317 W255L possibly damaging Het
Meig1 T C 2: 3,409,251 K71E probably damaging Het
Mtor A G 4: 148,534,939 N1760D probably benign Het
Ncapd2 A T 6: 125,189,818 N24K probably damaging Het
Nphp3 A C 9: 104,025,968 S715R probably benign Het
Papolg T G 11: 23,891,869 H18P probably damaging Het
Psd T C 19: 46,319,659 H667R possibly damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rtp1 T C 16: 23,431,193 S103P probably damaging Het
Snx21 T C 2: 164,792,390 probably benign Het
Tiam1 G T 16: 89,800,036 H301N probably benign Het
Trcg1 A T 9: 57,240,393 I11F possibly damaging Het
Trpm6 A G 19: 18,854,217 K1482R probably benign Het
Tyw1 G T 5: 130,267,080 G116V probably benign Het
Zfp341 T C 2: 154,632,304 C343R possibly damaging Het
Other mutations in Drc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01319:Drc3 APN 11 60364962 missense probably null 0.70
IGL01457:Drc3 APN 11 60358649 utr 5 prime probably benign
IGL02576:Drc3 APN 11 60370551 missense probably benign 0.01
IGL02610:Drc3 APN 11 60370593 missense probably benign 0.40
IGL02817:Drc3 APN 11 60384236 missense probably benign 0.16
IGL03380:Drc3 APN 11 60377905 missense probably benign 0.01
R0020:Drc3 UTSW 11 60370545 missense probably damaging 1.00
R1221:Drc3 UTSW 11 60384226 missense probably benign
R1394:Drc3 UTSW 11 60393719 missense possibly damaging 0.94
R1483:Drc3 UTSW 11 60388889 missense probably benign 0.00
R2093:Drc3 UTSW 11 60370484 missense probably damaging 1.00
R2151:Drc3 UTSW 11 60375157 missense probably benign 0.15
R4631:Drc3 UTSW 11 60364908 missense probably benign 0.02
R4796:Drc3 UTSW 11 60363528 missense probably damaging 1.00
R4841:Drc3 UTSW 11 60370535 missense probably benign 0.00
R4842:Drc3 UTSW 11 60370535 missense probably benign 0.00
R5739:Drc3 UTSW 11 60375130 missense possibly damaging 0.89
R5766:Drc3 UTSW 11 60393821 missense probably benign 0.18
R6143:Drc3 UTSW 11 60370580 missense possibly damaging 0.82
R6298:Drc3 UTSW 11 60393770 missense possibly damaging 0.74
R6558:Drc3 UTSW 11 60364892 missense probably damaging 1.00
R6611:Drc3 UTSW 11 60364947 missense probably damaging 0.99
R6938:Drc3 UTSW 11 60394123 critical splice acceptor site probably null
R7013:Drc3 UTSW 11 60387303 missense probably benign 0.00
R7108:Drc3 UTSW 11 60370554 missense probably benign 0.13
R7640:Drc3 UTSW 11 60388904 missense probably benign
R7713:Drc3 UTSW 11 60370560 missense probably benign
Posted On2015-04-16