Incidental Mutation 'IGL02610:Drc3'
| ID |
300437 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Drc3
|
| Ensembl Gene |
ENSMUSG00000056598 |
| Gene Name |
dynein regulatory complex subunit 3 |
| Synonyms |
Lrrc48, m6Bei, 4930449E07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
IGL02610
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
60244155-60285167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60261419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 190
(F190S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104363
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070805]
[ENSMUST00000094140]
[ENSMUST00000108722]
[ENSMUST00000108723]
|
| AlphaFold |
Q9D5E4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070805
AA Change: F190S
PolyPhen 2
Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: F190S
| 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 benign
Transcript: ENSMUST00000094140
AA Change: F190S
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: F190S
| 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 benign
Transcript: ENSMUST00000108722
AA Change: F190S
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: F190S
| 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 benign
Transcript: ENSMUST00000108723
AA Change: F190S
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: F190S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Ccdc93 |
T |
G |
1: 121,420,700 (GRCm39) |
V527G |
probably benign |
Het |
| Ctcfl |
C |
A |
2: 172,947,819 (GRCm39) |
|
probably benign |
Het |
| Dmd |
T |
C |
X: 82,707,762 (GRCm39) |
S359P |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,625,666 (GRCm39) |
K3943* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,772,016 (GRCm39) |
V551A |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,485,723 (GRCm39) |
L237M |
unknown |
Het |
| Gab1 |
A |
G |
8: 81,526,728 (GRCm39) |
|
probably null |
Het |
| Gm6430 |
G |
A |
1: 96,952,560 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv16-1 |
A |
T |
12: 114,032,733 (GRCm39) |
V23E |
probably damaging |
Het |
| Ikbkb |
T |
A |
8: 23,165,088 (GRCm39) |
|
probably null |
Het |
| Ncr1 |
A |
T |
7: 4,341,132 (GRCm39) |
N41I |
probably benign |
Het |
| Nfkbib |
T |
C |
7: 28,459,274 (GRCm39) |
D319G |
probably damaging |
Het |
| Nkain3 |
T |
C |
4: 20,469,459 (GRCm39) |
E85G |
probably damaging |
Het |
| Or51h1 |
G |
A |
7: 102,308,774 (GRCm39) |
V249M |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
A |
G |
18: 42,781,840 (GRCm39) |
|
probably benign |
Het |
| Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
| Rhod |
A |
G |
19: 4,476,203 (GRCm39) |
F183L |
probably damaging |
Het |
| Slc35f3 |
A |
T |
8: 127,047,956 (GRCm39) |
T99S |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,748 (GRCm39) |
V462A |
possibly damaging |
Het |
| Spock3 |
A |
G |
8: 63,798,771 (GRCm39) |
Y264C |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,755,779 (GRCm39) |
F278S |
possibly damaging |
Het |
| Ush2a |
T |
A |
1: 188,176,663 (GRCm39) |
Y1276N |
probably damaging |
Het |
| Veph1 |
A |
G |
3: 66,079,588 (GRCm39) |
L309P |
probably damaging |
Het |
| Vmn1r7 |
G |
T |
6: 57,002,037 (GRCm39) |
F74L |
probably benign |
Het |
| Vsnl1 |
C |
T |
12: 11,382,072 (GRCm39) |
W103* |
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation