Incidental Mutation 'IGL01998:Drc7'
ID |
182954 |
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)
|
Stock # |
IGL01998
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
95781731-95804769 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 95785821 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 226
(C226S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058479]
|
AlphaFold |
Q6V3W6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058479
AA Change: C226S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053972 Gene: ENSMUSG00000031786 AA Change: C226S
Domain | Start | End | E-Value | Type |
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: ENSMUST00000212986
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arpc3 |
T |
C |
5: 122,541,470 (GRCm39) |
C78R |
probably damaging |
Het |
Atp6v0b |
A |
G |
4: 117,743,263 (GRCm39) |
|
probably null |
Het |
B3gnt8 |
A |
G |
7: 25,328,203 (GRCm39) |
Y211C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,886,880 (GRCm39) |
I736T |
probably benign |
Het |
Bltp1 |
T |
C |
3: 37,011,165 (GRCm39) |
S1788P |
possibly damaging |
Het |
Bpifb9a |
T |
C |
2: 154,110,120 (GRCm39) |
|
probably null |
Het |
C3ar1 |
A |
T |
6: 122,827,899 (GRCm39) |
M106K |
probably damaging |
Het |
C9orf72 |
A |
T |
4: 35,194,179 (GRCm39) |
D205E |
probably benign |
Het |
Cab39l |
T |
A |
14: 59,734,344 (GRCm39) |
L21Q |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,303,043 (GRCm39) |
I166F |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,841,722 (GRCm39) |
E256G |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,663,887 (GRCm39) |
T519A |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,435,622 (GRCm39) |
L233Q |
probably damaging |
Het |
Crlf3 |
G |
A |
11: 79,948,845 (GRCm39) |
|
probably benign |
Het |
Depdc5 |
T |
C |
5: 33,102,495 (GRCm39) |
|
probably benign |
Het |
Epha5 |
T |
A |
5: 84,232,593 (GRCm39) |
D807V |
probably damaging |
Het |
Fat2 |
A |
G |
11: 55,187,021 (GRCm39) |
L1275P |
probably benign |
Het |
Fv1 |
T |
C |
4: 147,953,784 (GRCm39) |
C117R |
possibly damaging |
Het |
Ighg2b |
C |
A |
12: 113,270,709 (GRCm39) |
M140I |
unknown |
Het |
Klra5 |
A |
T |
6: 129,883,676 (GRCm39) |
Y60* |
probably null |
Het |
Lmtk2 |
C |
T |
5: 144,112,883 (GRCm39) |
T1201I |
probably damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,078 (GRCm39) |
S917T |
probably benign |
Het |
Ncapd2 |
A |
T |
6: 125,146,896 (GRCm39) |
L1230H |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,353 (GRCm39) |
I708N |
probably damaging |
Het |
Notch2 |
A |
T |
3: 98,050,422 (GRCm39) |
D1899V |
probably damaging |
Het |
Npepl1 |
T |
A |
2: 173,957,993 (GRCm39) |
|
probably benign |
Het |
Nps |
T |
A |
7: 134,870,481 (GRCm39) |
|
probably benign |
Het |
Nrg1 |
T |
C |
8: 32,408,162 (GRCm39) |
S24G |
probably damaging |
Het |
Or1j20 |
A |
G |
2: 36,759,658 (GRCm39) |
N27D |
probably benign |
Het |
Or2ag16 |
G |
A |
7: 106,351,758 (GRCm39) |
T279M |
possibly damaging |
Het |
Or2t48 |
A |
T |
11: 58,420,403 (GRCm39) |
Y136* |
probably null |
Het |
Or4k2 |
C |
A |
14: 50,424,105 (GRCm39) |
V190L |
probably benign |
Het |
Pigx |
G |
T |
16: 31,903,428 (GRCm39) |
T211K |
probably benign |
Het |
Pink1 |
A |
G |
4: 138,048,053 (GRCm39) |
I223T |
probably damaging |
Het |
Plat |
G |
A |
8: 23,257,163 (GRCm39) |
A15T |
probably benign |
Het |
Ptges2 |
G |
A |
2: 32,291,542 (GRCm39) |
A310T |
possibly damaging |
Het |
Rsl1d1 |
A |
G |
16: 11,012,509 (GRCm39) |
S306P |
possibly damaging |
Het |
Rxfp1 |
T |
C |
3: 79,567,403 (GRCm39) |
K316E |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,438,742 (GRCm39) |
I1708T |
probably damaging |
Het |
Sdk2 |
A |
T |
11: 113,729,358 (GRCm39) |
F1073Y |
probably damaging |
Het |
Sp100 |
A |
G |
1: 85,594,650 (GRCm39) |
D170G |
probably benign |
Het |
Spock1 |
A |
T |
13: 57,583,994 (GRCm39) |
|
probably benign |
Het |
Strbp |
A |
G |
2: 37,515,297 (GRCm39) |
L243P |
probably damaging |
Het |
Tex55 |
A |
T |
16: 38,648,586 (GRCm39) |
D174E |
probably benign |
Het |
Tgm5 |
T |
A |
2: 120,882,920 (GRCm39) |
T446S |
probably damaging |
Het |
Tmem59l |
C |
T |
8: 70,937,431 (GRCm39) |
V239I |
probably benign |
Het |
Trav8-1 |
A |
T |
14: 53,707,662 (GRCm39) |
T101S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,594,350 (GRCm39) |
D27G |
probably damaging |
Het |
Vmn2r54 |
T |
C |
7: 12,349,227 (GRCm39) |
E785G |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,862,350 (GRCm39) |
|
probably null |
Het |
Wwp2 |
C |
T |
8: 108,276,153 (GRCm39) |
R64C |
probably damaging |
Het |
Zfp608 |
T |
C |
18: 55,024,890 (GRCm39) |
H1460R |
probably damaging |
Het |
|
Other mutations in Drc7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |