Incidental Mutation 'R6534:Drc7'
| ID |
520287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc7
|
| Ensembl Gene |
ENSMUSG00000031786 |
| Gene Name |
dynein regulatory complex subunit 7 |
| Synonyms |
Ccdc135, SRG-L, LOC330830 |
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
95781731-95804769 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95797910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 443
(Y443H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053972
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058479]
|
| AlphaFold |
Q6V3W6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058479
AA Change: Y443H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053972
Gene: ENSMUSG00000031786
AA Change: Y443H
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Ddx10 |
A |
G |
9: 53,134,988 (GRCm39) |
Y399H |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
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 |
|
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 |
|
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'- GCACTGGCAGGTATTTTCTTC -3'
(R):5'- ACACAGAGATGGTTGCTGCAG -3'
Sequencing Primer
(F):5'- CCTCCTTGGAGCTGGTTCTG -3'
(R):5'- AGGCAGACCAGCTCCTCTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation