Incidental Mutation 'R5721:Drc7'
ID |
451444 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Drc7
|
Ensembl Gene |
ENSMUSG00000031786 |
Gene Name |
dynein regulatory complex subunit 7 |
Synonyms |
Ccdc135, SRG-L, LOC330830 |
MMRRC Submission |
043189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5721 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
95781731-95804769 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 95800961 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053972
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058479]
[ENSMUST00000058479]
|
AlphaFold |
Q6V3W6 |
Predicted Effect |
probably null
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 |
probably null
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
A |
T |
15: 84,844,798 (GRCm39) |
V30D |
probably damaging |
Het |
Atl3 |
T |
A |
19: 7,506,376 (GRCm39) |
M302K |
probably benign |
Het |
Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
Ciz1 |
C |
T |
2: 32,266,052 (GRCm39) |
T39I |
probably damaging |
Het |
Cog8 |
T |
C |
8: 107,776,780 (GRCm39) |
T532A |
probably benign |
Het |
Ctsr |
C |
T |
13: 61,309,667 (GRCm39) |
G181S |
possibly damaging |
Het |
Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
Faf1 |
T |
C |
4: 109,792,863 (GRCm39) |
F612L |
probably benign |
Het |
Fbxo40 |
T |
A |
16: 36,789,296 (GRCm39) |
M605L |
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gprc6a |
A |
T |
10: 51,491,076 (GRCm39) |
M716K |
probably benign |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Ift70a1 |
A |
T |
2: 75,811,715 (GRCm39) |
Y123N |
probably damaging |
Het |
Jcad |
A |
T |
18: 4,676,044 (GRCm39) |
T1269S |
possibly damaging |
Het |
Kif23 |
C |
G |
9: 61,851,498 (GRCm39) |
G66A |
probably benign |
Het |
Lrrd1 |
T |
C |
5: 3,900,619 (GRCm39) |
M308T |
probably benign |
Het |
Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
Mcph1 |
G |
A |
8: 18,721,223 (GRCm39) |
V684M |
probably damaging |
Het |
Mpv17l |
T |
C |
16: 13,764,658 (GRCm39) |
Y62H |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,565 (GRCm39) |
S68P |
probably damaging |
Het |
Or13d1 |
G |
T |
4: 52,971,068 (GRCm39) |
W149L |
probably damaging |
Het |
Osgepl1 |
A |
T |
1: 53,360,359 (GRCm39) |
M362L |
possibly damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,452 (GRCm39) |
|
probably null |
Het |
Pacsin3 |
T |
A |
2: 91,094,580 (GRCm39) |
C402S |
probably damaging |
Het |
Papss2 |
A |
G |
19: 32,638,064 (GRCm39) |
Y392C |
probably damaging |
Het |
Plekha8 |
T |
A |
6: 54,590,091 (GRCm39) |
W19R |
probably damaging |
Het |
Prdm15 |
A |
T |
16: 97,608,296 (GRCm39) |
I667N |
possibly damaging |
Het |
Rab11fip2 |
A |
G |
19: 59,924,042 (GRCm39) |
S279P |
probably damaging |
Het |
Slc6a20b |
C |
A |
9: 123,441,054 (GRCm39) |
G131C |
probably null |
Het |
Suox |
T |
C |
10: 128,507,162 (GRCm39) |
I289V |
possibly damaging |
Het |
Tbc1d16 |
C |
T |
11: 119,049,556 (GRCm39) |
|
probably null |
Het |
Tmem269 |
T |
C |
4: 119,067,146 (GRCm39) |
T146A |
probably benign |
Het |
Ttn |
G |
A |
2: 76,558,911 (GRCm39) |
R29657W |
probably damaging |
Het |
Vmn1r84 |
C |
A |
7: 12,096,153 (GRCm39) |
C168F |
probably damaging |
Het |
Zc3h7b |
T |
C |
15: 81,657,499 (GRCm39) |
F180L |
probably benign |
Het |
Zfand4 |
C |
G |
6: 116,264,956 (GRCm39) |
D140E |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAAAATCACAGAGCGGTTCTC -3'
(R):5'- GTTGCAAGGGAAAGGTCCTC -3'
Sequencing Primer
(F):5'- GTTCTCCCGCAATCCAGAG -3'
(R):5'- CAGATGAGAGCTTTGCATGTTACCAG -3'
|
Posted On |
2017-01-03 |