Incidental Mutation 'R1127:Drc7'
ID 96308
Institutional Source Beutler Lab
Gene Symbol Drc7
Ensembl Gene ENSMUSG00000031786
Gene Name dynein regulatory complex subunit 7
Synonyms Ccdc135, SRG-L, LOC330830
MMRRC Submission 039200-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1127 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 95781731-95804769 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 95799416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 530 (E530D)
Ref Sequence ENSEMBL: ENSMUSP00000053972 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058479]
AlphaFold Q6V3W6
Predicted Effect probably damaging
Transcript: ENSMUST00000058479
AA Change: E530D

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: E530D

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
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.1%
  • 20x: 80.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700088E04Rik T C 15: 79,019,403 (GRCm39) D179G probably benign Het
Aadacl2fm2 G A 3: 59,659,314 (GRCm39) E256K probably benign Het
Adh7 C T 3: 137,927,490 (GRCm39) A12V probably benign Het
Ankhd1 T A 18: 36,767,399 (GRCm39) N1179K probably damaging Het
Ankrd50 T C 3: 38,511,336 (GRCm39) T344A probably benign Het
Aplf T C 6: 87,623,273 (GRCm39) T269A probably benign Het
Cavin4 T C 4: 48,663,637 (GRCm39) S6P probably damaging Het
Ces2g T C 8: 105,694,094 (GRCm39) probably null Het
Cyp2c66 A T 19: 39,151,812 (GRCm39) N176Y probably damaging Het
Dnah3 T A 7: 119,522,253 (GRCm39) D3980V probably damaging Het
Dst A G 1: 34,314,358 (GRCm39) T6434A probably damaging Het
Dtx3l A G 16: 35,759,127 (GRCm39) S41P possibly damaging Het
Eef1b2 G A 1: 63,218,616 (GRCm39) probably null Het
Eml3 C T 19: 8,913,672 (GRCm39) T43I probably damaging Het
Fam110b T A 4: 5,799,434 (GRCm39) L284Q probably damaging Het
Gpr33 A C 12: 52,070,252 (GRCm39) H262Q probably damaging Het
Igfals T G 17: 25,099,455 (GRCm39) L182R probably damaging Het
Lamc1 A G 1: 153,126,205 (GRCm39) F496L possibly damaging Het
Muc4 T A 16: 32,569,343 (GRCm39) H134Q possibly damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nxn A T 11: 76,164,895 (GRCm39) C205* probably null Het
Oga G A 19: 45,740,594 (GRCm39) R914* probably null Het
Or11l3 T C 11: 58,516,284 (GRCm39) E196G probably damaging Het
Or52h9 C A 7: 104,202,293 (GRCm39) H56N possibly damaging Het
Pamr1 A T 2: 102,469,698 (GRCm39) I415F possibly damaging Het
Ppp4r4 G A 12: 103,545,327 (GRCm39) G200E probably damaging Het
Pramel29 G A 4: 143,933,694 (GRCm39) T471I probably damaging Het
Prdm16 C A 4: 154,613,256 (GRCm39) S57I probably damaging Het
Psmd11 A G 11: 80,362,410 (GRCm39) K157R possibly damaging Het
Ptprn2 G A 12: 117,175,628 (GRCm39) probably null Het
Pus7 G A 5: 23,973,793 (GRCm39) H234Y probably benign Het
Rd3l A G 12: 111,946,717 (GRCm39) Y20H probably benign Het
Stk31 A G 6: 49,386,141 (GRCm39) D160G probably damaging Het
Sycp2 C T 2: 178,016,159 (GRCm39) E768K possibly damaging Het
Tango6 T C 8: 107,415,527 (GRCm39) V116A probably benign Het
Ttn C T 2: 76,697,574 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Xylb T C 9: 119,212,443 (GRCm39) I427T probably damaging Het
Zc3h7a T G 16: 10,956,939 (GRCm39) D890A 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
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
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'- GTGGGCAAGTGGTCCTAACCTG -3'
(R):5'- TCTCTATCTGCCAGCGAGGGTG -3'

Sequencing Primer
(F):5'- cagaaagtgggggttggg -3'
(R):5'- ATTGACGTGCCGATAGGCAA -3'
Posted On 2014-01-05