Incidental Mutation 'IGL01642:Drc7'
| ID |
93696 |
| 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 # |
IGL01642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
95781731-95804769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95785767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 208
(V208I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058479]
|
| AlphaFold |
Q6V3W6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058479
AA Change: V208I
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: V208I
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
G |
11: 116,486,514 (GRCm39) |
T18A |
possibly damaging |
Het |
| Abat |
A |
T |
16: 8,418,783 (GRCm39) |
I126F |
possibly damaging |
Het |
| Adcy6 |
G |
A |
15: 98,492,390 (GRCm39) |
A958V |
possibly damaging |
Het |
| Ago2 |
T |
C |
15: 72,995,239 (GRCm39) |
I447V |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,409,155 (GRCm39) |
V1784A |
unknown |
Het |
| Atp1b1 |
A |
G |
1: 164,285,330 (GRCm39) |
F33L |
probably benign |
Het |
| Bpnt1 |
G |
A |
1: 185,086,238 (GRCm39) |
V198I |
probably benign |
Het |
| Cemip2 |
T |
A |
19: 21,801,265 (GRCm39) |
I794N |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,426,761 (GRCm39) |
V383A |
possibly damaging |
Het |
| Cgas |
G |
A |
9: 78,344,680 (GRCm39) |
P247L |
probably damaging |
Het |
| Clip3 |
G |
A |
7: 29,998,287 (GRCm39) |
M244I |
probably benign |
Het |
| Clip3 |
A |
T |
7: 29,996,494 (GRCm39) |
|
probably benign |
Het |
| Cyp2a22 |
A |
T |
7: 26,638,184 (GRCm39) |
N107K |
possibly damaging |
Het |
| Cyp2c23 |
A |
T |
19: 43,993,995 (GRCm39) |
L457Q |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,031 (GRCm39) |
Y17C |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,228,470 (GRCm39) |
L2021Q |
probably damaging |
Het |
| E2f4 |
C |
A |
8: 106,027,968 (GRCm39) |
P299T |
probably damaging |
Het |
| Eef1b2 |
T |
C |
1: 63,216,990 (GRCm39) |
L53P |
probably damaging |
Het |
| Enpp3 |
T |
C |
10: 24,674,167 (GRCm39) |
T378A |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,223,670 (GRCm39) |
N302S |
probably benign |
Het |
| Esrrg |
G |
A |
1: 187,943,112 (GRCm39) |
V362M |
probably benign |
Het |
| Gcc2 |
T |
A |
10: 58,116,434 (GRCm39) |
N1014K |
probably benign |
Het |
| Gm3099 |
T |
A |
14: 15,346,476 (GRCm39) |
M114K |
possibly damaging |
Het |
| Gnptab |
C |
T |
10: 88,271,994 (GRCm39) |
T928I |
possibly damaging |
Het |
| Gpd2 |
A |
T |
2: 57,158,083 (GRCm39) |
R31* |
probably null |
Het |
| Impdh1 |
T |
C |
6: 29,207,165 (GRCm39) |
T60A |
possibly damaging |
Het |
| Kcnab3 |
A |
G |
11: 69,221,256 (GRCm39) |
E191G |
probably benign |
Het |
| Kcnh5 |
A |
G |
12: 75,011,943 (GRCm39) |
S659P |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,904,334 (GRCm39) |
I362T |
possibly damaging |
Het |
| Kpna4 |
A |
G |
3: 68,993,117 (GRCm39) |
V414A |
probably damaging |
Het |
| Magi1 |
G |
A |
6: 93,663,605 (GRCm39) |
P1111S |
possibly damaging |
Het |
| Myo18a |
A |
G |
11: 77,755,558 (GRCm39) |
D1965G |
probably benign |
Het |
| Nadsyn1 |
G |
A |
7: 143,351,615 (GRCm39) |
P673S |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,445 (GRCm39) |
S864P |
probably damaging |
Het |
| Or10ak16 |
A |
G |
4: 118,750,658 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,706,029 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or2f1 |
G |
T |
6: 42,721,486 (GRCm39) |
V172L |
probably benign |
Het |
| Paics |
T |
A |
5: 77,109,357 (GRCm39) |
|
probably benign |
Het |
| Papss1 |
G |
T |
3: 131,288,996 (GRCm39) |
|
probably benign |
Het |
| Pax3 |
A |
G |
1: 78,173,300 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
T |
G |
8: 125,110,941 (GRCm39) |
Q159P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,266 (GRCm39) |
Y3009C |
probably damaging |
Het |
| Pla2g4d |
T |
C |
2: 120,111,117 (GRCm39) |
T161A |
probably damaging |
Het |
| Podxl2 |
T |
A |
6: 88,820,529 (GRCm39) |
Y521F |
probably damaging |
Het |
| Pramel34 |
A |
G |
5: 93,784,154 (GRCm39) |
Y437H |
possibly damaging |
Het |
| Prmt2 |
C |
T |
10: 76,058,327 (GRCm39) |
G161S |
probably damaging |
Het |
| Rft1 |
C |
T |
14: 30,398,825 (GRCm39) |
T265I |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,321,192 (GRCm39) |
L736M |
probably damaging |
Het |
| Slf1 |
C |
T |
13: 77,198,034 (GRCm39) |
A747T |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,349,519 (GRCm39) |
K427E |
probably damaging |
Het |
| Tmem131l |
A |
T |
3: 83,845,357 (GRCm39) |
D424E |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,937,488 (GRCm39) |
T3826A |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,993,813 (GRCm39) |
Y233H |
probably damaging |
Het |
| Ubl4b |
C |
A |
3: 107,462,147 (GRCm39) |
E38* |
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,416 (GRCm39) |
I486N |
probably damaging |
Het |
| Vmn1r193 |
A |
C |
13: 22,403,794 (GRCm39) |
L66R |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,792,218 (GRCm39) |
I2162T |
probably benign |
Het |
| Wipf2 |
T |
C |
11: 98,781,650 (GRCm39) |
V63A |
probably benign |
Het |
| Zfp735 |
G |
T |
11: 73,601,305 (GRCm39) |
C83F |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,308,348 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-12-09 |
Incidental Mutation