Incidental Mutation 'R0020:Drc3'
| ID |
201375 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc3
|
| Ensembl Gene |
ENSMUSG00000056598 |
| Gene Name |
dynein regulatory complex subunit 3 |
| Synonyms |
Lrrc48, m6Bei, 4930449E07Rik |
| MMRRC Submission |
038315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R0020 (G1)
|
| Quality Score |
44 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60244155-60285167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60261371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 174
(Y174C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070805]
[ENSMUST00000094140]
[ENSMUST00000108722]
[ENSMUST00000108723]
|
| AlphaFold |
Q9D5E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070805
AA Change: Y174C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: Y174C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
LRR
|
86 |
106 |
9.24e1 |
SMART |
|
LRR
|
108 |
129 |
1.71e1 |
SMART |
|
LRR
|
130 |
153 |
1.49e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094140
AA Change: Y174C
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: Y174C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
LRR
|
86 |
106 |
9.24e1 |
SMART |
|
LRR
|
108 |
129 |
1.71e1 |
SMART |
|
LRR
|
130 |
153 |
1.49e1 |
SMART |
|
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108722
AA Change: Y174C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: Y174C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
LRR
|
86 |
106 |
9.24e1 |
SMART |
|
LRR
|
108 |
129 |
1.71e1 |
SMART |
|
LRR
|
130 |
153 |
1.49e1 |
SMART |
|
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108723
AA Change: Y174C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: Y174C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
LRR
|
86 |
106 |
9.24e1 |
SMART |
|
LRR
|
108 |
129 |
1.71e1 |
SMART |
|
LRR
|
130 |
153 |
1.49e1 |
SMART |
|
low complexity region
|
216 |
235 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128905
|
| Meta Mutation Damage Score |
0.5738 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.4%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ado |
T |
C |
10: 67,383,927 (GRCm39) |
D226G |
probably benign |
Het |
| Agfg2 |
C |
T |
5: 137,652,064 (GRCm39) |
V432M |
probably benign |
Het |
| Atf2 |
T |
C |
2: 73,676,628 (GRCm39) |
D122G |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,693,597 (GRCm39) |
D2032E |
probably damaging |
Het |
| Cd2bp2 |
G |
A |
7: 126,792,996 (GRCm39) |
T342M |
probably damaging |
Het |
| Cip2a |
A |
T |
16: 48,821,975 (GRCm39) |
H201L |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,739,272 (GRCm39) |
I319F |
probably damaging |
Het |
| Cst11 |
T |
A |
2: 148,613,253 (GRCm39) |
Y24F |
probably damaging |
Het |
| Cstb |
T |
A |
10: 78,263,170 (GRCm39) |
V65E |
probably benign |
Het |
| Cyp2j11 |
G |
A |
4: 96,195,641 (GRCm39) |
H352Y |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,038,475 (GRCm39) |
|
probably benign |
Het |
| Dbh |
A |
G |
2: 27,060,584 (GRCm39) |
|
probably benign |
Het |
| Dhdh |
T |
C |
7: 45,137,528 (GRCm39) |
K53R |
probably benign |
Het |
| Ezr |
G |
T |
17: 7,010,126 (GRCm39) |
Q308K |
probably damaging |
Het |
| F3 |
A |
T |
3: 121,525,265 (GRCm39) |
N169Y |
probably damaging |
Het |
| Fbn2 |
G |
T |
18: 58,238,236 (GRCm39) |
T587K |
probably damaging |
Het |
| Fhl5 |
A |
T |
4: 25,200,054 (GRCm39) |
V260E |
probably benign |
Het |
| Glyr1 |
A |
G |
16: 4,854,913 (GRCm39) |
I55T |
probably damaging |
Het |
| Gm12695 |
G |
C |
4: 96,657,972 (GRCm39) |
P66A |
probably damaging |
Het |
| Gon4l |
G |
T |
3: 88,766,244 (GRCm39) |
V428L |
probably damaging |
Het |
| Ighv6-5 |
T |
C |
12: 114,380,241 (GRCm39) |
D92G |
probably null |
Het |
| Inhba |
A |
C |
13: 16,200,949 (GRCm39) |
K170N |
possibly damaging |
Het |
| Kng2 |
A |
G |
16: 22,816,046 (GRCm39) |
V317A |
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,940,849 (GRCm39) |
D658E |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,118,500 (GRCm39) |
E562G |
probably damaging |
Het |
| Megf10 |
G |
T |
18: 57,420,965 (GRCm39) |
V868F |
possibly damaging |
Het |
| Nap1l1 |
A |
C |
10: 111,326,884 (GRCm39) |
E148D |
probably benign |
Het |
| Nlrp4a |
A |
T |
7: 26,149,797 (GRCm39) |
H468L |
probably damaging |
Het |
| Nphs1 |
G |
T |
7: 30,162,633 (GRCm39) |
V357L |
probably benign |
Het |
| Or10aa3 |
T |
A |
1: 173,878,413 (GRCm39) |
V158E |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,719,687 (GRCm39) |
T1275A |
unknown |
Het |
| Pde4d |
T |
A |
13: 110,091,104 (GRCm39) |
C35S |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,825,765 (GRCm39) |
|
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,651,382 (GRCm39) |
E910G |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 55,960,429 (GRCm39) |
M634L |
probably benign |
Het |
| Ppp2r5c |
C |
T |
12: 110,541,257 (GRCm39) |
Q469* |
probably null |
Het |
| Ppp6r2 |
T |
A |
15: 89,143,342 (GRCm39) |
M163K |
probably damaging |
Het |
| Prss43 |
C |
A |
9: 110,657,580 (GRCm39) |
|
probably benign |
Het |
| Rb1cc1 |
C |
A |
1: 6,334,772 (GRCm39) |
N1444K |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,350 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
A |
G |
7: 109,430,095 (GRCm39) |
|
probably benign |
Het |
| Slamf9 |
T |
C |
1: 172,303,082 (GRCm39) |
S7P |
possibly damaging |
Het |
| Slc35b2 |
T |
A |
17: 45,877,782 (GRCm39) |
M303K |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,796,108 (GRCm38) |
F1116I |
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,918,076 (GRCm39) |
V600E |
possibly damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,060,991 (GRCm39) |
|
probably benign |
Het |
| Tamalin |
T |
C |
15: 101,128,433 (GRCm39) |
V157A |
probably damaging |
Het |
| Tns3 |
A |
C |
11: 8,495,227 (GRCm39) |
|
probably null |
Het |
| Zfp282 |
T |
G |
6: 47,856,943 (GRCm39) |
W59G |
probably damaging |
Het |
| Zfp746 |
C |
A |
6: 48,041,641 (GRCm39) |
A362S |
probably benign |
Het |
|
| Other mutations in Drc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01319:Drc3
|
APN |
11 |
60,255,788 (GRCm39) |
missense |
probably null |
0.70 |
|
IGL01457:Drc3
|
APN |
11 |
60,249,475 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02329:Drc3
|
APN |
11 |
60,261,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02576:Drc3
|
APN |
11 |
60,261,377 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02610:Drc3
|
APN |
11 |
60,261,419 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02817:Drc3
|
APN |
11 |
60,275,062 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL03380:Drc3
|
APN |
11 |
60,268,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1221:Drc3
|
UTSW |
11 |
60,275,052 (GRCm39) |
missense |
probably benign |
|
|
R1394:Drc3
|
UTSW |
11 |
60,284,545 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1483:Drc3
|
UTSW |
11 |
60,279,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2093:Drc3
|
UTSW |
11 |
60,261,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2151:Drc3
|
UTSW |
11 |
60,265,983 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4631:Drc3
|
UTSW |
11 |
60,255,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4796:Drc3
|
UTSW |
11 |
60,254,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4841:Drc3
|
UTSW |
11 |
60,261,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4842:Drc3
|
UTSW |
11 |
60,261,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5739:Drc3
|
UTSW |
11 |
60,265,956 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5766:Drc3
|
UTSW |
11 |
60,284,647 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6143:Drc3
|
UTSW |
11 |
60,261,406 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6298:Drc3
|
UTSW |
11 |
60,284,596 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6558:Drc3
|
UTSW |
11 |
60,255,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Drc3
|
UTSW |
11 |
60,255,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6938:Drc3
|
UTSW |
11 |
60,284,949 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7013:Drc3
|
UTSW |
11 |
60,278,129 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7108:Drc3
|
UTSW |
11 |
60,261,380 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7640:Drc3
|
UTSW |
11 |
60,279,730 (GRCm39) |
missense |
probably benign |
|
|
R7713:Drc3
|
UTSW |
11 |
60,261,386 (GRCm39) |
missense |
probably benign |
|
|
R9188:Drc3
|
UTSW |
11 |
60,249,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9500:Drc3
|
UTSW |
11 |
60,261,334 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCGCTGCTGACTGCTTTTCATAG -3'
(R):5'- GCCAGGAAAACATGCTCTCTTAGCC -3'
Sequencing Primer
(F):5'- acccatcatctgtcctaaatcc -3'
(R):5'- CATGGACAGGGAGAGCGTC -3'
|
| Posted On |
2014-06-02 |
Incidental Mutation