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)
|
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
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
AA Change: V874I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000053972 Gene: ENSMUSG00000031786 AA Change: V874I
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |