Incidental Mutation 'R6611:Drc3'
ID |
523599 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Drc3
|
Ensembl Gene |
ENSMUSG00000056598 |
Gene Name |
dynein regulatory complex subunit 3 |
Synonyms |
Lrrc48, m6Bei, 4930449E07Rik |
MMRRC Submission |
044734-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R6611 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60244155-60285167 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 60255773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Leucine
at position 120
(R120L)
|
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: R120L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000065525 Gene: ENSMUSG00000056598 AA Change: R120L
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: R120L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000091691 Gene: ENSMUSG00000056598 AA Change: R120L
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: R120L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104362 Gene: ENSMUSG00000056598 AA Change: R120L
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: R120L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104363 Gene: ENSMUSG00000056598 AA Change: R120L
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810009J06Rik |
A |
T |
6: 40,943,713 (GRCm39) |
T126S |
probably benign |
Het |
Bex6 |
A |
G |
16: 32,005,483 (GRCm39) |
K97R |
probably benign |
Het |
Brca2 |
T |
C |
5: 150,459,658 (GRCm39) |
L311P |
probably damaging |
Het |
Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
Cdc16 |
C |
A |
8: 13,831,512 (GRCm39) |
P582T |
probably benign |
Het |
Cep112 |
T |
C |
11: 108,397,377 (GRCm39) |
I280T |
possibly damaging |
Het |
Cfhr4 |
A |
G |
1: 139,660,128 (GRCm39) |
Y666H |
probably damaging |
Het |
Chd2 |
A |
G |
7: 73,143,313 (GRCm39) |
F527L |
probably damaging |
Het |
Efcab6 |
T |
A |
15: 83,777,036 (GRCm39) |
R1133S |
possibly damaging |
Het |
Fer1l5 |
T |
C |
1: 36,445,735 (GRCm39) |
V834A |
probably benign |
Het |
Flnb |
A |
G |
14: 7,915,318 (GRCm38) |
Y1483C |
probably damaging |
Het |
Fstl4 |
A |
T |
11: 53,077,552 (GRCm39) |
M770L |
probably benign |
Het |
Gm10428 |
A |
T |
11: 62,644,115 (GRCm39) |
|
probably benign |
Het |
Hmbs |
C |
A |
9: 44,252,988 (GRCm39) |
R15L |
probably damaging |
Het |
Irx3 |
T |
C |
8: 92,526,631 (GRCm39) |
T358A |
probably damaging |
Het |
Kmt2a |
T |
A |
9: 44,760,569 (GRCm39) |
I460L |
probably damaging |
Het |
Mob2 |
G |
T |
7: 141,563,293 (GRCm39) |
F55L |
probably damaging |
Het |
Muc6 |
G |
C |
7: 141,226,700 (GRCm39) |
|
probably benign |
Het |
Ntrk2 |
T |
C |
13: 59,202,228 (GRCm39) |
L612P |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,955,056 (GRCm39) |
|
probably null |
Het |
Or4d5 |
T |
C |
9: 40,012,316 (GRCm39) |
I157V |
probably benign |
Het |
Or5j1 |
A |
T |
2: 86,879,577 (GRCm39) |
M1K |
probably null |
Het |
Or8b44 |
A |
T |
9: 38,410,534 (GRCm39) |
T190S |
probably damaging |
Het |
Oxct2a |
T |
C |
4: 123,216,640 (GRCm39) |
E247G |
probably damaging |
Het |
Phykpl |
G |
T |
11: 51,489,181 (GRCm39) |
A336S |
probably damaging |
Het |
Pik3r4 |
T |
G |
9: 105,521,476 (GRCm39) |
L14R |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
Pramel7 |
A |
G |
2: 87,320,393 (GRCm39) |
I300T |
probably damaging |
Het |
Rictor |
T |
G |
15: 6,780,140 (GRCm39) |
C132G |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
Slc9a9 |
G |
T |
9: 94,821,531 (GRCm39) |
R306L |
probably benign |
Het |
Smc5 |
A |
G |
19: 23,206,283 (GRCm39) |
V681A |
probably benign |
Het |
Snap91 |
C |
T |
9: 86,672,180 (GRCm39) |
S646N |
probably benign |
Het |
Ssh3 |
T |
C |
19: 4,314,450 (GRCm39) |
N368S |
probably damaging |
Het |
Syne1 |
A |
T |
10: 4,995,273 (GRCm39) |
N8326K |
probably benign |
Het |
Traf3 |
T |
G |
12: 111,204,074 (GRCm39) |
L21R |
possibly damaging |
Het |
Ubxn11 |
C |
A |
4: 133,850,910 (GRCm39) |
T254K |
probably damaging |
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 |
R0020:Drc3
|
UTSW |
11 |
60,261,371 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- AAGGCCATCTAATGCTCCTAGAAC -3'
(R):5'- TCTACCACCTCAGACCTTGG -3'
Sequencing Primer
(F):5'- AGTGTTACTCCCGAGAGCTCTAAG -3'
(R):5'- CTCAGACCTTGGCTTTGGCATG -3'
|
Posted On |
2018-06-22 |