Incidental Mutation 'IGL00922:Drc7'
ID 28019
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 # IGL00922
Quality Score
Status
Chromosome 8
Chromosomal Location 95781731-95804769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95804606 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 874 (V874I)
Ref Sequence ENSEMBL: ENSMUSP00000053972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000058479] [ENSMUST00000212968]
AlphaFold Q6V3W6
Predicted Effect probably benign
Transcript: ENSMUST00000034239
SMART Domains Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787

DomainStartEndE-ValueType
WD40 9 49 2.61e-3 SMART
WD40 52 91 2.45e-8 SMART
WD40 94 133 3.58e-10 SMART
WD40 136 175 7.49e-13 SMART
WD40 178 217 5.14e-11 SMART
WD40 220 258 1.14e-3 SMART
low complexity region 354 373 N/A INTRINSIC
low complexity region 396 412 N/A INTRINSIC
Pfam:Katanin_con80 496 654 8.2e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000058479
AA Change: V874I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: V874I

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 probably benign
Transcript: ENSMUST00000212968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212980
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik T C 5: 115,085,236 (GRCm39) probably null Het
Atr T A 9: 95,789,398 (GRCm39) M1518K probably damaging Het
Baiap2l1 C T 5: 144,255,777 (GRCm39) G59D probably damaging Het
BC051019 C A 7: 109,319,883 (GRCm39) C60F probably benign Het
Brms1l A G 12: 55,892,111 (GRCm39) Y135C probably benign Het
Cachd1 T A 4: 100,824,163 (GRCm39) S535T probably benign Het
Chkb C T 15: 89,306,491 (GRCm39) probably null Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Cobl T A 11: 12,204,866 (GRCm39) D605V probably damaging Het
Ddx54 T A 5: 120,761,875 (GRCm39) probably null Het
Dnah6 A T 6: 73,010,509 (GRCm39) probably benign Het
Dnaja2 A T 8: 86,281,866 (GRCm39) V4E probably damaging Het
Dnajc22 T G 15: 98,999,460 (GRCm39) L215R possibly damaging Het
Foxa2 A C 2: 147,886,738 (GRCm39) S26A possibly damaging Het
Gal A T 19: 3,461,575 (GRCm39) V70E probably benign Het
Gjb4 T C 4: 127,245,146 (GRCm39) Y265C probably benign Het
Hc A G 2: 34,881,680 (GRCm39) S1423P probably damaging Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Kash5 T C 7: 44,834,730 (GRCm39) E532G possibly damaging Het
Map3k6 C T 4: 132,970,355 (GRCm39) probably benign Het
Matn1 A T 4: 130,680,285 (GRCm39) Q454L probably benign Het
Mlxip A T 5: 123,578,128 (GRCm39) N148I probably damaging Het
Mre11a T C 9: 14,710,884 (GRCm39) F193L probably damaging Het
Myo1h T C 5: 114,498,546 (GRCm39) Y881H probably damaging Het
Nphp4 C T 4: 152,621,766 (GRCm39) probably benign Het
Or6c3b T G 10: 129,527,323 (GRCm39) I196L probably benign Het
Ptpn13 T A 5: 103,735,954 (GRCm39) V2151D probably damaging Het
Rnf141 T C 7: 110,432,941 (GRCm39) probably benign Het
Rpe65 A C 3: 159,320,179 (GRCm39) D277A probably damaging Het
Sec14l1 C T 11: 117,044,055 (GRCm39) T521M possibly damaging Het
Slc25a30 A T 14: 76,007,038 (GRCm39) Y153N probably damaging Het
Slc6a12 C T 6: 121,337,414 (GRCm39) A366V probably damaging Het
Trp53bp1 T A 2: 121,038,963 (GRCm39) T1367S probably damaging Het
Vmn2r71 T G 7: 85,267,901 (GRCm39) S118R probably benign Het
Other mutations in Drc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Drc7 APN 8 95,782,629 (GRCm39) splice site probably benign
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
IGL01936:Drc7 APN 8 95,800,760 (GRCm39) missense possibly damaging 0.89
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 2013-04-17