Incidental Mutation 'R0281:Drc7'
ID 37529
Institutional Source Beutler Lab
Gene Symbol Drc7
Ensembl Gene ENSMUSG00000031786
Gene Name dynein regulatory complex subunit 7
Synonyms Ccdc135, SRG-L, LOC330830
MMRRC Submission 038503-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0281 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 95781731-95804769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95797881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 433 (R433H)
Ref Sequence ENSEMBL: ENSMUSP00000053972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058479]
AlphaFold Q6V3W6
Predicted Effect possibly damaging
Transcript: ENSMUST00000058479
AA Change: R433H

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: R433H

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
Meta Mutation Damage Score 0.4595 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 98% (104/106)
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik A T 4: 62,464,304 (GRCm39) R374* probably null Het
5930422O12Rik A T 8: 33,919,407 (GRCm39) R76* probably null Het
A1cf G A 19: 31,923,214 (GRCm39) A505T probably benign Het
Abcc5 T A 16: 20,241,150 (GRCm39) I12F probably damaging Het
Abcf2 T C 5: 24,771,562 (GRCm39) E555G probably damaging Het
Acan A T 7: 78,750,033 (GRCm39) E1601D probably damaging Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adam2 T A 14: 66,275,055 (GRCm39) K559N probably benign Het
Akap11 A C 14: 78,747,529 (GRCm39) D1619E possibly damaging Het
Ankrd11 T C 8: 123,622,307 (GRCm39) D515G probably benign Het
Ankrd27 T A 7: 35,318,796 (GRCm39) N562K probably damaging Het
Atp10b T C 11: 43,044,131 (GRCm39) I119T probably benign Het
Atr T C 9: 95,819,619 (GRCm39) I2202T probably benign Het
Bltp2 C T 11: 78,162,750 (GRCm39) L871F possibly damaging Het
Brd4 T A 17: 32,432,514 (GRCm39) probably benign Het
Catsperg2 C T 7: 29,405,996 (GRCm39) C634Y possibly damaging Het
Cep192 A G 18: 67,961,553 (GRCm39) probably benign Het
Cfap65 T A 1: 74,966,230 (GRCm39) I366F probably damaging Het
Cnga4 G T 7: 105,056,875 (GRCm39) R326L probably damaging Het
Cntnap5b T A 1: 99,999,878 (GRCm39) M212K probably benign Het
Col6a6 T A 9: 105,661,315 (GRCm39) M265L probably benign Het
Cspg4b A T 13: 113,505,677 (GRCm39) I727F probably damaging Het
Cyp26b1 A T 6: 84,551,538 (GRCm39) F417Y probably damaging Het
Dhx15 A T 5: 52,308,088 (GRCm39) M768K probably benign Het
Duox2 C T 2: 122,122,785 (GRCm39) V550M probably benign Het
Elmo2 A G 2: 165,138,810 (GRCm39) L456P probably damaging Het
Fbxo39 T C 11: 72,208,356 (GRCm39) I236T probably benign Het
Fezf2 A G 14: 12,343,977 (GRCm38) C305R probably damaging Het
Fndc3b C A 3: 27,511,155 (GRCm39) C785F probably benign Het
Gm12253 T C 11: 58,330,838 (GRCm39) probably benign Het
Gnat2 T A 3: 108,002,878 (GRCm39) Y95* probably null Het
Gopc T C 10: 52,226,774 (GRCm39) K220E probably damaging Het
Hectd4 G A 5: 121,392,314 (GRCm39) D193N possibly damaging Het
Hexa G A 9: 59,461,509 (GRCm39) probably null Het
Hspa4l T C 3: 40,739,840 (GRCm39) probably benign Het
Hspa5 T C 2: 34,664,332 (GRCm39) S301P probably damaging Het
Ice1 A T 13: 70,752,166 (GRCm39) S1307T possibly damaging Het
Igtp T C 11: 58,096,880 (GRCm39) L17P probably damaging Het
Itk T C 11: 46,244,743 (GRCm39) Y225C probably damaging Het
Kifc3 A G 8: 95,830,088 (GRCm39) V560A probably damaging Het
Lama1 A G 17: 68,124,564 (GRCm39) N2875D probably damaging Het
Lasp1 C A 11: 97,697,677 (GRCm39) C32* probably null Het
Lcp2 T A 11: 34,019,854 (GRCm39) probably benign Het
Lhx9 C T 1: 138,760,642 (GRCm39) G236D probably benign Het
Lrrc38 A T 4: 143,076,979 (GRCm39) I81F probably damaging Het
Ly6a C T 15: 74,867,236 (GRCm39) V94M probably benign Het
Map3k13 A G 16: 21,732,907 (GRCm39) E503G probably damaging Het
Mertk T C 2: 128,624,541 (GRCm39) probably benign Het
Mrtfb T A 16: 13,230,027 (GRCm39) I915N probably damaging Het
Msantd2 G A 9: 37,434,515 (GRCm39) D252N possibly damaging Het
Mtmr12 T A 15: 12,257,792 (GRCm39) L290* probably null Het
Myo3a T C 2: 22,250,409 (GRCm39) I92T probably benign Het
Naglu T A 11: 100,964,853 (GRCm39) N313K probably damaging Het
Nceh1 T C 3: 27,276,953 (GRCm39) V92A possibly damaging Het
Ncf4 A G 15: 78,135,083 (GRCm39) T47A probably damaging Het
Nrp1 T A 8: 129,187,164 (GRCm39) F403L probably damaging Het
Nxph3 T C 11: 95,402,082 (GRCm39) T111A possibly damaging Het
Obscn T A 11: 58,929,441 (GRCm39) E6061V probably damaging Het
Obsl1 C A 1: 75,469,571 (GRCm39) G1149W probably damaging Het
Or14c39 A G 7: 86,344,068 (GRCm39) T135A probably benign Het
Or2k2 A T 4: 58,784,981 (GRCm39) V247E probably damaging Het
Or2p2 T A 13: 21,256,544 (GRCm39) Y309F probably benign Het
Or5b123 A G 19: 13,596,849 (GRCm39) T65A probably benign Het
Or5d14 C T 2: 87,880,756 (GRCm39) V71I possibly damaging Het
Or5p68 A C 7: 107,946,121 (GRCm39) D22E probably benign Het
Or6c70 T A 10: 129,710,415 (GRCm39) L70F possibly damaging Het
Pde9a T C 17: 31,674,080 (GRCm39) V55A probably damaging Het
Pip4k2c A T 10: 127,041,690 (GRCm39) probably null Het
Plvap T C 8: 71,964,026 (GRCm39) N112S probably damaging Het
Pop1 T A 15: 34,530,004 (GRCm39) probably null Het
Ppip5k2 T C 1: 97,644,278 (GRCm39) H1113R possibly damaging Het
Ptprk A T 10: 28,449,388 (GRCm39) I962F probably damaging Het
Rad51ap2 T C 12: 11,507,043 (GRCm39) S322P possibly damaging Het
Rasal1 A G 5: 120,812,670 (GRCm39) T565A probably benign Het
Rbm15 C A 3: 107,238,471 (GRCm39) R642S probably damaging Het
Rpsa G A 9: 119,960,069 (GRCm39) E211K possibly damaging Het
Ryr3 A G 2: 112,517,155 (GRCm39) S3303P probably damaging Het
Scg2 T A 1: 79,413,229 (GRCm39) N458I possibly damaging Het
Setx A G 2: 29,069,655 (GRCm39) T2487A probably benign Het
Slc4a5 G A 6: 83,244,549 (GRCm39) probably benign Het
Slc8a2 T A 7: 15,874,914 (GRCm39) D387E probably benign Het
Smarcc2 A G 10: 128,310,591 (GRCm39) T407A probably benign Het
Snap25 A G 2: 136,619,384 (GRCm39) D179G probably damaging Het
Socs4 T C 14: 47,527,325 (GRCm39) S74P probably benign Het
Sp6 T A 11: 96,912,751 (GRCm39) Y155N probably benign Het
Srrt C T 5: 137,294,389 (GRCm39) probably benign Het
Steap1 C T 5: 5,786,431 (GRCm39) M335I probably benign Het
Stra6 A T 9: 58,052,772 (GRCm39) Y250F probably benign Het
Svil T C 18: 5,094,582 (GRCm39) S1421P probably damaging Het
Tcea3 G A 4: 135,998,677 (GRCm39) C317Y probably damaging Het
Tmco6 T C 18: 36,870,757 (GRCm39) L117S probably damaging Het
Trp53bp1 T C 2: 121,100,718 (GRCm39) K89E probably damaging Het
Trp63 T A 16: 25,583,052 (GRCm39) probably benign Het
Ube2d2a A G 18: 35,933,185 (GRCm39) Y74C probably damaging Het
Usp19 T G 9: 108,375,708 (GRCm39) F885V probably damaging Het
Utp18 T A 11: 93,773,003 (GRCm39) probably benign Het
Vmn2r116 T C 17: 23,620,387 (GRCm39) I707T possibly damaging Het
Vmn2r68 T A 7: 84,882,457 (GRCm39) probably benign Het
Vmn2r68 C G 7: 84,882,466 (GRCm39) probably null Het
Zfp318 C T 17: 46,723,540 (GRCm39) P1848S probably benign Het
Zfp984 G T 4: 147,839,722 (GRCm39) N376K probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- GCCAGCACTGGCAGGTATTTTCTTC -3'
(R):5'- GTCATCGTATGTAAACGCCCCTCC -3'

Sequencing Primer
(F):5'- AGGTATTTTCTTCCTCCTTGGAGC -3'
(R):5'- cacacacacacacacacacac -3'
Posted On 2013-05-23