Incidental Mutation 'IGL03032:Drc7'
| ID |
408511 |
| 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 # |
IGL03032
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95781731-95804769 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 95802875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034239]
[ENSMUST00000058479]
|
| AlphaFold |
Q6V3W6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034239
|
| SMART Domains |
Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
| Domain | Start | End | E-Value | Type |
|---|
|
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
|
| SMART Domains |
Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
| 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: ENSMUST00000212980
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,774 (GRCm39) |
Y177F |
possibly damaging |
Het |
| Als2 |
C |
A |
1: 59,255,189 (GRCm39) |
|
probably benign |
Het |
| Arhgap44 |
A |
G |
11: 64,915,038 (GRCm39) |
L410P |
probably damaging |
Het |
| Atp13a2 |
C |
T |
4: 140,727,666 (GRCm39) |
A481V |
possibly damaging |
Het |
| Bod1l |
C |
A |
5: 41,988,927 (GRCm39) |
L393F |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,780,179 (GRCm39) |
I258N |
probably damaging |
Het |
| Col24a1 |
T |
C |
3: 145,244,458 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
A |
T |
4: 128,412,834 (GRCm39) |
N2542I |
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,898,025 (GRCm39) |
|
probably benign |
Het |
| Dip2c |
A |
T |
13: 9,601,814 (GRCm39) |
I258F |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,854,585 (GRCm39) |
S1560P |
probably benign |
Het |
| Gm3667 |
T |
A |
14: 18,269,522 (GRCm39) |
S203C |
probably null |
Het |
| Gramd2a |
A |
G |
9: 59,619,410 (GRCm39) |
E190G |
probably benign |
Het |
| Gstm4 |
T |
C |
3: 107,951,263 (GRCm39) |
D8G |
probably damaging |
Het |
| Heatr5b |
A |
T |
17: 79,067,928 (GRCm39) |
M1820K |
probably benign |
Het |
| Irs4 |
A |
G |
X: 140,505,794 (GRCm39) |
Y801H |
unknown |
Het |
| Loxhd1 |
C |
T |
18: 77,374,169 (GRCm39) |
T80I |
possibly damaging |
Het |
| Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
| Mapk8ip1 |
T |
G |
2: 92,216,958 (GRCm39) |
K446Q |
probably damaging |
Het |
| Mettl21e |
C |
A |
1: 44,249,319 (GRCm39) |
|
probably null |
Het |
| Mmp8 |
T |
A |
9: 7,558,530 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,808,424 (GRCm39) |
|
noncoding transcript |
Het |
| Nipsnap3b |
T |
A |
4: 53,015,016 (GRCm39) |
V21E |
possibly damaging |
Het |
| Or1j15 |
C |
A |
2: 36,458,716 (GRCm39) |
Y35* |
probably null |
Het |
| Or5al6 |
A |
G |
2: 85,977,043 (GRCm39) |
F12L |
probably damaging |
Het |
| Or7a38 |
A |
T |
10: 78,753,471 (GRCm39) |
I266F |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,064,520 (GRCm39) |
|
probably null |
Het |
| Pramel14 |
C |
A |
4: 143,719,815 (GRCm39) |
L183F |
probably damaging |
Het |
| Rgsl1 |
T |
A |
1: 153,701,948 (GRCm39) |
T169S |
possibly damaging |
Het |
| Rnf38 |
T |
C |
4: 44,152,529 (GRCm39) |
R12G |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,363,624 (GRCm39) |
|
probably benign |
Het |
| Slpi |
T |
C |
2: 164,197,367 (GRCm39) |
|
probably benign |
Het |
| Snx17 |
G |
A |
5: 31,353,355 (GRCm39) |
V165I |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,880,357 (GRCm39) |
V570A |
probably benign |
Het |
| Vmn1r63 |
A |
G |
7: 5,806,350 (GRCm39) |
M94T |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,575 (GRCm39) |
I771V |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,575,532 (GRCm39) |
V868A |
probably benign |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation