Incidental Mutation 'IGL01936:Drc7'
ID 180705
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Drc7
Ensembl Gene ENSMUSG00000031786
Gene Name dynein regulatory complex subunit 7
Synonyms Ccdc135, SRG-L, LOC330830
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01936
Quality Score
Status
Chromosome 8
Chromosomal Location 95781731-95804769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95800760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 594 (F594Y)
Ref Sequence ENSEMBL: ENSMUSP00000053972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058479]
AlphaFold Q6V3W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000058479
AA Change: F594Y

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: F594Y

DomainStartEndE-ValueType
coiled coil region 1 33 N/A INTRINSIC
low complexity region 229 246 N/A INTRINSIC
coiled coil region 258 295 N/A INTRINSIC
low complexity region 388 411 N/A INTRINSIC
low complexity region 544 555 N/A INTRINSIC
low complexity region 695 710 N/A INTRINSIC
low complexity region 798 809 N/A INTRINSIC
low complexity region 848 864 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212980
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T A 5: 90,009,282 (GRCm39) H127L probably benign Het
Adamtsl3 T C 7: 82,244,579 (GRCm39) V419A possibly damaging Het
Arhgap31 T A 16: 38,423,287 (GRCm39) L926F probably damaging Het
Asgr2 A T 11: 69,988,877 (GRCm39) probably null Het
C3ar1 T A 6: 122,828,194 (GRCm39) T8S probably benign Het
Caskin2 T C 11: 115,695,543 (GRCm39) I273V probably damaging Het
Ccnl2 T A 4: 155,904,856 (GRCm39) C242S probably damaging Het
Cdkn2a A T 4: 89,212,569 (GRCm39) probably null Het
Cfap45 T G 1: 172,361,616 (GRCm39) M231R probably damaging Het
Clcn7 A C 17: 25,374,350 (GRCm39) N464H probably benign Het
Col20a1 T A 2: 180,651,161 (GRCm39) probably benign Het
Col7a1 T A 9: 108,797,067 (GRCm39) probably benign Het
Cops7a T C 6: 124,939,379 (GRCm39) D90G probably benign Het
Ctcf T C 8: 106,396,864 (GRCm39) V363A probably benign Het
Cyp2j12 A G 4: 96,021,306 (GRCm39) V100A probably benign Het
Dcaf1 T A 9: 106,736,800 (GRCm39) F1085Y possibly damaging Het
Ehbp1l1 C A 19: 5,768,277 (GRCm39) E1009* probably null Het
Epg5 C A 18: 78,028,316 (GRCm39) R1286S probably damaging Het
Etv1 T C 12: 38,885,060 (GRCm39) probably benign Het
Exosc7 T C 9: 122,964,956 (GRCm39) probably benign Het
Fam227a T C 15: 79,496,747 (GRCm39) D610G possibly damaging Het
Fat4 T A 3: 39,033,923 (GRCm39) M2525K probably benign Het
Gimap5 G T 6: 48,729,999 (GRCm39) A190S probably damaging Het
Glcci1 T A 6: 8,579,596 (GRCm39) S79T probably damaging Het
Gpnmb C T 6: 49,024,384 (GRCm39) T233I probably null Het
Hdac1-ps T C 17: 78,799,558 (GRCm39) V183A probably damaging Het
Hyls1 T C 9: 35,473,363 (GRCm39) I18V probably benign Het
Ighv1-63 C T 12: 115,459,274 (GRCm39) E108K probably damaging Het
Ighv5-12 C A 12: 113,665,927 (GRCm39) R57L probably damaging Het
Igkv5-37 T C 6: 69,940,323 (GRCm39) Y107C probably damaging Het
Il20ra T A 10: 19,631,591 (GRCm39) V264D probably damaging Het
Jph1 A T 1: 17,167,608 (GRCm39) V74E probably damaging Het
Kcnab1 C T 3: 65,265,695 (GRCm39) L280F probably damaging Het
Kcnk1 T C 8: 126,751,826 (GRCm39) F144S probably damaging Het
Kcnq1 G A 7: 142,738,241 (GRCm39) E294K possibly damaging Het
Kdm4b T A 17: 56,704,355 (GRCm39) V813E probably damaging Het
Kntc1 T A 5: 123,949,439 (GRCm39) F1937I probably damaging Het
Ldb2 G A 5: 44,637,586 (GRCm39) R241W probably damaging Het
Lgr5 T C 10: 115,288,319 (GRCm39) N703S probably damaging Het
Map4k1 A T 7: 28,688,032 (GRCm39) M227L possibly damaging Het
Mbnl1 T A 3: 60,520,940 (GRCm39) M268K possibly damaging Het
Mcm2 C A 6: 88,868,708 (GRCm39) G350C probably damaging Het
Myh2 A T 11: 67,082,599 (GRCm39) T1390S possibly damaging Het
Npat T A 9: 53,469,526 (GRCm39) probably benign Het
Nr2e1 T A 10: 42,443,969 (GRCm39) D251V possibly damaging Het
Or1x2 A G 11: 50,918,162 (GRCm39) N111S probably benign Het
Or4d10 C T 19: 12,051,421 (GRCm39) V192I probably benign Het
Or5b107 C A 19: 13,142,767 (GRCm39) P130T probably damaging Het
Plekha5 T A 6: 140,470,621 (GRCm39) H87Q probably damaging Het
Polr3a A G 14: 24,529,256 (GRCm39) V368A probably damaging Het
Psmb8 T A 17: 34,419,168 (GRCm39) L154Q probably damaging Het
Rab40c A C 17: 26,103,644 (GRCm39) C140G probably damaging Het
Ranbp17 G A 11: 33,437,689 (GRCm39) T183I probably benign Het
Ruvbl2 T C 7: 45,078,122 (GRCm39) E117G probably damaging Het
Serpinb3b T A 1: 107,082,368 (GRCm39) M299L probably benign Het
Smpdl3a A G 10: 57,678,530 (GRCm39) H111R probably damaging Het
Sspo C A 6: 48,452,821 (GRCm39) P2843H probably damaging Het
Stk39 T C 2: 68,144,908 (GRCm39) T389A probably benign Het
Synrg T A 11: 83,910,531 (GRCm39) F1000Y probably benign Het
Thbs2 C T 17: 14,908,076 (GRCm39) S229N probably benign Het
Thsd1 G A 8: 22,742,247 (GRCm39) C305Y probably damaging Het
Ticrr C A 7: 79,344,297 (GRCm39) D1387E probably benign Het
Tmem145 G T 7: 25,010,816 (GRCm39) A383S probably damaging Het
Tmprss4 A G 9: 45,090,718 (GRCm39) V187A probably damaging Het
Unc13c T A 9: 73,600,524 (GRCm39) M1407L probably benign Het
Vps39 C T 2: 120,153,609 (GRCm39) G655D probably benign Het
Wwtr1 T C 3: 57,482,241 (GRCm39) probably benign Het
Xrn1 T C 9: 95,930,397 (GRCm39) S1535P probably damaging Het
Other mutations in Drc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Drc7 APN 8 95,782,629 (GRCm39) splice site probably benign
IGL00922:Drc7 APN 8 95,804,606 (GRCm39) missense probably benign 0.00
IGL01610:Drc7 APN 8 95,804,430 (GRCm39) missense probably damaging 1.00
IGL01642:Drc7 APN 8 95,785,767 (GRCm39) missense probably benign 0.34
IGL01793:Drc7 APN 8 95,797,905 (GRCm39) missense probably benign 0.25
IGL01953:Drc7 APN 8 95,785,753 (GRCm39) missense probably damaging 1.00
IGL01998:Drc7 APN 8 95,785,821 (GRCm39) missense probably damaging 1.00
IGL02237:Drc7 APN 8 95,799,507 (GRCm39) missense probably damaging 1.00
IGL02259:Drc7 APN 8 95,782,733 (GRCm39) missense probably benign
IGL02285:Drc7 APN 8 95,797,861 (GRCm39) splice site probably benign
IGL02940:Drc7 APN 8 95,800,925 (GRCm39) missense probably damaging 0.99
IGL03032:Drc7 APN 8 95,802,875 (GRCm39) splice site probably benign
IGL03181:Drc7 APN 8 95,794,755 (GRCm39) missense probably benign 0.00
R0018:Drc7 UTSW 8 95,800,862 (GRCm39) missense probably damaging 0.99
R0018:Drc7 UTSW 8 95,800,862 (GRCm39) missense probably damaging 0.99
R0281:Drc7 UTSW 8 95,797,881 (GRCm39) missense possibly damaging 0.61
R0304:Drc7 UTSW 8 95,785,756 (GRCm39) missense probably damaging 1.00
R0362:Drc7 UTSW 8 95,799,483 (GRCm39) missense probably benign 0.00
R1127:Drc7 UTSW 8 95,799,416 (GRCm39) missense probably damaging 0.98
R1635:Drc7 UTSW 8 95,800,960 (GRCm39) critical splice donor site probably null
R1921:Drc7 UTSW 8 95,782,644 (GRCm39) missense unknown
R1931:Drc7 UTSW 8 95,797,881 (GRCm39) missense possibly damaging 0.61
R2256:Drc7 UTSW 8 95,801,637 (GRCm39) missense probably benign 0.16
R3851:Drc7 UTSW 8 95,788,464 (GRCm39) nonsense probably null
R4797:Drc7 UTSW 8 95,800,925 (GRCm39) missense probably damaging 0.96
R4827:Drc7 UTSW 8 95,798,267 (GRCm39) missense probably damaging 0.98
R4966:Drc7 UTSW 8 95,798,224 (GRCm39) missense probably benign 0.45
R5194:Drc7 UTSW 8 95,788,345 (GRCm39) missense probably benign 0.00
R5721:Drc7 UTSW 8 95,800,961 (GRCm39) critical splice donor site probably null
R5911:Drc7 UTSW 8 95,800,754 (GRCm39) missense probably damaging 1.00
R5993:Drc7 UTSW 8 95,800,820 (GRCm39) missense probably benign
R6056:Drc7 UTSW 8 95,801,679 (GRCm39) missense probably damaging 1.00
R6534:Drc7 UTSW 8 95,797,910 (GRCm39) missense probably damaging 1.00
R6576:Drc7 UTSW 8 95,801,886 (GRCm39) missense probably damaging 0.98
R6861:Drc7 UTSW 8 95,789,025 (GRCm39) critical splice donor site probably null
R7104:Drc7 UTSW 8 95,785,711 (GRCm39) missense probably damaging 0.99
R7157:Drc7 UTSW 8 95,800,778 (GRCm39) missense probably damaging 0.99
R7205:Drc7 UTSW 8 95,804,549 (GRCm39) missense probably damaging 1.00
R7283:Drc7 UTSW 8 95,798,207 (GRCm39) missense probably damaging 0.99
R7351:Drc7 UTSW 8 95,785,135 (GRCm39) missense probably benign 0.25
R7567:Drc7 UTSW 8 95,794,684 (GRCm39) missense probably benign 0.00
R8211:Drc7 UTSW 8 95,782,707 (GRCm39) missense unknown
R8281:Drc7 UTSW 8 95,788,805 (GRCm39) missense possibly damaging 0.81
R8401:Drc7 UTSW 8 95,800,763 (GRCm39) missense probably benign
R8821:Drc7 UTSW 8 95,788,845 (GRCm39) missense probably damaging 1.00
R8831:Drc7 UTSW 8 95,788,845 (GRCm39) missense probably damaging 1.00
R9044:Drc7 UTSW 8 95,797,077 (GRCm39) missense probably damaging 0.98
R9326:Drc7 UTSW 8 95,801,886 (GRCm39) missense probably benign 0.02
R9565:Drc7 UTSW 8 95,801,866 (GRCm39) missense probably damaging 0.98
R9581:Drc7 UTSW 8 95,785,782 (GRCm39) missense probably damaging 0.98
Y5404:Drc7 UTSW 8 95,794,778 (GRCm39) small deletion probably benign
Posted On 2014-05-07