Incidental Mutation 'IGL02259:Drc7'
| ID |
286679 |
| 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 # |
IGL02259
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95781731-95804769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95782733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 33
(T33A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058479]
|
| AlphaFold |
Q6V3W6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058479
AA Change: T33A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: T33A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ang6 |
A |
G |
14: 44,239,363 (GRCm39) |
F122L |
probably benign |
Het |
| Atm |
A |
T |
9: 53,429,794 (GRCm39) |
|
probably benign |
Het |
| Ccsap |
G |
A |
8: 124,572,166 (GRCm39) |
T112M |
possibly damaging |
Het |
| Cd63 |
T |
C |
10: 128,747,843 (GRCm39) |
S113P |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,341,857 (GRCm39) |
F183L |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,355,687 (GRCm39) |
S321C |
probably damaging |
Het |
| Cyp2ab1 |
G |
A |
16: 20,131,897 (GRCm39) |
T281I |
probably damaging |
Het |
| Cyp2c40 |
A |
C |
19: 39,792,246 (GRCm39) |
C233G |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,978,588 (GRCm39) |
I2955T |
probably benign |
Het |
| Gigyf2 |
T |
A |
1: 87,339,559 (GRCm39) |
Y481N |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,391,398 (GRCm39) |
E13V |
probably benign |
Het |
| Ifna4 |
A |
G |
4: 88,760,293 (GRCm39) |
K66E |
probably damaging |
Het |
| Kif14 |
T |
A |
1: 136,427,840 (GRCm39) |
M1103K |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,202,919 (GRCm39) |
|
probably benign |
Het |
| Lsm14a |
G |
T |
7: 34,070,558 (GRCm39) |
P113T |
probably damaging |
Het |
| Med12l |
T |
A |
3: 59,153,264 (GRCm39) |
N1096K |
probably damaging |
Het |
| Med13 |
C |
A |
11: 86,248,327 (GRCm39) |
G9W |
possibly damaging |
Het |
| Minar1 |
A |
T |
9: 89,484,412 (GRCm39) |
H328Q |
possibly damaging |
Het |
| Nbr1 |
G |
A |
11: 101,468,816 (GRCm39) |
A639T |
probably damaging |
Het |
| Nid2 |
G |
T |
14: 19,818,277 (GRCm39) |
|
probably null |
Het |
| Numa1 |
A |
G |
7: 101,636,955 (GRCm39) |
D22G |
possibly damaging |
Het |
| Or13p10 |
G |
A |
4: 118,523,634 (GRCm39) |
V307I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phkg2 |
A |
G |
7: 127,181,458 (GRCm39) |
|
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,166 (GRCm39) |
|
probably null |
Het |
| Plch1 |
C |
T |
3: 63,630,170 (GRCm39) |
|
probably null |
Het |
| Prb1b |
A |
T |
6: 132,289,637 (GRCm39) |
D62E |
unknown |
Het |
| Prl8a1 |
A |
C |
13: 27,766,089 (GRCm39) |
V2G |
probably benign |
Het |
| Spata31 |
T |
C |
13: 65,069,297 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tbc1d4 |
A |
G |
14: 101,703,166 (GRCm39) |
C760R |
probably damaging |
Het |
| Tgs1 |
A |
G |
4: 3,604,743 (GRCm39) |
N722D |
probably damaging |
Het |
| Tmcc2 |
T |
C |
1: 132,288,898 (GRCm39) |
D28G |
probably benign |
Het |
| Zfp457 |
C |
T |
13: 67,444,471 (GRCm39) |
A11T |
possibly damaging |
Het |
| Zfp879 |
T |
C |
11: 50,729,255 (GRCm39) |
S48G |
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 |
|
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 |
2015-04-16 |
Incidental Mutation