Incidental Mutation 'R6558:Drc3'
| ID |
522266 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc3
|
| Ensembl Gene |
ENSMUSG00000056598 |
| Gene Name |
dynein regulatory complex subunit 3 |
| Synonyms |
Lrrc48, m6Bei, 4930449E07Rik |
| MMRRC Submission |
044682-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R6558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60244155-60285167 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60255718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 102
(I102F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070805]
[ENSMUST00000094140]
[ENSMUST00000108722]
[ENSMUST00000108723]
|
| AlphaFold |
Q9D5E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070805
AA Change: I102F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065525
Gene: ENSMUSG00000056598
AA Change: I102F
| 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: I102F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091691
Gene: ENSMUSG00000056598
AA Change: I102F
| 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: I102F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104362
Gene: ENSMUSG00000056598
AA Change: I102F
| 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: I102F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104363
Gene: ENSMUSG00000056598
AA Change: I102F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.6%
|
| Validation Efficiency |
100% (31/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
C |
10: 20,839,572 (GRCm39) |
V161A |
probably damaging |
Het |
| Anxa3 |
A |
G |
5: 96,960,798 (GRCm39) |
|
probably null |
Het |
| Cftr |
T |
C |
6: 18,222,527 (GRCm39) |
I261T |
probably damaging |
Het |
| Chml |
A |
T |
1: 175,514,748 (GRCm39) |
M391K |
probably damaging |
Het |
| Cog2 |
T |
C |
8: 125,276,971 (GRCm39) |
L659P |
probably damaging |
Het |
| Col5a3 |
C |
T |
9: 20,690,329 (GRCm39) |
G1162R |
probably damaging |
Het |
| Cxcl2 |
T |
C |
5: 91,052,224 (GRCm39) |
L71P |
probably damaging |
Het |
| Cxcl5 |
A |
G |
5: 90,907,677 (GRCm39) |
E83G |
probably damaging |
Het |
| Dpt |
A |
G |
1: 164,624,380 (GRCm39) |
Y27C |
unknown |
Het |
| Fam83h |
T |
C |
15: 75,876,302 (GRCm39) |
D345G |
probably damaging |
Het |
| Gm14412 |
G |
T |
2: 177,006,347 (GRCm39) |
T516K |
probably damaging |
Het |
| Grip1 |
A |
G |
10: 119,290,288 (GRCm39) |
N7D |
probably benign |
Het |
| Hoxc11 |
T |
C |
15: 102,863,301 (GRCm39) |
L114P |
probably damaging |
Het |
| Htr7 |
T |
C |
19: 36,034,640 (GRCm39) |
N5S |
probably damaging |
Het |
| Ifi208 |
C |
T |
1: 173,510,589 (GRCm39) |
T248I |
probably damaging |
Het |
| Lrrc71 |
G |
A |
3: 87,649,950 (GRCm39) |
T326M |
probably benign |
Het |
| Map7d1 |
G |
A |
4: 126,126,702 (GRCm39) |
A798V |
unknown |
Het |
| Mfsd13a |
T |
A |
19: 46,354,917 (GRCm39) |
N31K |
probably damaging |
Het |
| Myadm |
T |
A |
7: 3,345,577 (GRCm39) |
I113N |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,741,678 (GRCm39) |
E1509G |
probably damaging |
Het |
| Nalcn |
C |
G |
14: 123,723,919 (GRCm39) |
R382P |
probably benign |
Het |
| Ogfr |
C |
T |
2: 180,237,197 (GRCm39) |
P594L |
possibly damaging |
Het |
| Or2r11 |
T |
A |
6: 42,437,711 (GRCm39) |
M81L |
probably benign |
Het |
| Or5p80 |
T |
A |
7: 108,229,395 (GRCm39) |
H65Q |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,839,052 (GRCm39) |
M877I |
probably benign |
Het |
| Sec23a |
A |
T |
12: 59,051,338 (GRCm39) |
S102T |
probably benign |
Het |
| Stoml1 |
T |
A |
9: 58,163,951 (GRCm39) |
V90E |
probably damaging |
Het |
| Stra8 |
G |
A |
6: 34,909,975 (GRCm39) |
W111* |
probably null |
Het |
| Timeless |
T |
A |
10: 128,085,432 (GRCm39) |
V850D |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,495,490 (GRCm39) |
D453V |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,200,708 (GRCm39) |
T1138P |
possibly damaging |
Het |
| Zkscan6 |
A |
T |
11: 65,719,051 (GRCm39) |
H357L |
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 |
|
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 |
|
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'- AAGGCCATCTAATGCTCCTAGAAC -3'
(R):5'- ACCTCAGACCTTGGCTTTGG -3'
Sequencing Primer
(F):5'- TCTAATGCTCCTAGAACCCCCAAC -3'
(R):5'- AGGCCCTGTGGTATTTGTGAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation