Incidental Mutation 'R4036:Drc1'
| ID |
313710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc1
|
| Ensembl Gene |
ENSMUSG00000073102 |
| Gene Name |
dynein regulatory complex subunit 1 |
| Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
| MMRRC Submission |
040963-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30486386-30524039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30504526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 223
(I223V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101448]
|
| AlphaFold |
Q3USS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101448
AA Change: I223V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: I223V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
79 |
N/A |
INTRINSIC |
|
Pfam:NYD-SP28
|
100 |
200 |
1.7e-33 |
PFAM |
|
coiled coil region
|
280 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
599 |
612 |
N/A |
INTRINSIC |
|
Pfam:NYD-SP28_assoc
|
673 |
732 |
2.2e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200399
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for ENU-induced mutations exhibit heterotaxy with complex congenital heart disease such as transposition of the great arteries (TGA), atrioventricular septal defects (AVSD), and vein abnormalities; immotile/dyskinetic airway cilia are also seen. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544M13Rik |
T |
C |
13: 114,744,205 (GRCm39) |
|
noncoding transcript |
Het |
| Ahctf1 |
T |
C |
1: 179,590,181 (GRCm39) |
Q1364R |
possibly damaging |
Het |
| Anxa2 |
A |
G |
9: 69,395,352 (GRCm39) |
N265S |
probably damaging |
Het |
| Bcan |
A |
G |
3: 87,903,423 (GRCm39) |
|
probably null |
Het |
| Cntln |
A |
G |
4: 84,924,725 (GRCm39) |
Y610C |
probably damaging |
Het |
| Cyp39a1 |
C |
A |
17: 43,987,831 (GRCm39) |
A99E |
probably damaging |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,094,570 (GRCm39) |
L1167P |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gns |
C |
A |
10: 121,207,095 (GRCm39) |
T72N |
probably damaging |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,447,511 (GRCm39) |
I9V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,861,283 (GRCm39) |
T216A |
possibly damaging |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Ndc1 |
G |
A |
4: 107,268,269 (GRCm39) |
D602N |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Or5ac22 |
T |
A |
16: 59,135,113 (GRCm39) |
H219L |
probably benign |
Het |
| Pcdha8 |
T |
C |
18: 37,125,914 (GRCm39) |
M132T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,158,296 (GRCm39) |
|
probably null |
Het |
| Prrt3 |
AGGGGG |
AGGGG |
6: 113,474,641 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
A |
10: 51,602,842 (GRCm39) |
H786Q |
probably damaging |
Het |
| Scn4a |
A |
C |
11: 106,212,883 (GRCm39) |
L1374R |
possibly damaging |
Het |
| Slc16a9 |
C |
T |
10: 70,110,786 (GRCm39) |
T124M |
probably damaging |
Het |
| Slc46a2 |
A |
T |
4: 59,913,818 (GRCm39) |
F368L |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,898,010 (GRCm39) |
I604K |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,548,497 (GRCm39) |
V31935A |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,584,974 (GRCm39) |
H549R |
probably benign |
Het |
| Vmn1r219 |
A |
G |
13: 23,347,272 (GRCm39) |
M154V |
probably benign |
Het |
| Zfp575 |
G |
A |
7: 24,285,440 (GRCm39) |
S67L |
possibly damaging |
Het |
|
| Other mutations in Drc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01633:Drc1
|
APN |
5 |
30,503,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02123:Drc1
|
APN |
5 |
30,504,448 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02839:Drc1
|
APN |
5 |
30,507,767 (GRCm39) |
missense |
probably benign |
0.02 |
|
putative
|
UTSW |
5 |
30,513,632 (GRCm39) |
missense |
probably benign |
0.11 |
|
PIT4431001:Drc1
|
UTSW |
5 |
30,504,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0147:Drc1
|
UTSW |
5 |
30,486,487 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0148:Drc1
|
UTSW |
5 |
30,486,487 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0590:Drc1
|
UTSW |
5 |
30,520,480 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1640:Drc1
|
UTSW |
5 |
30,521,301 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1799:Drc1
|
UTSW |
5 |
30,523,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2105:Drc1
|
UTSW |
5 |
30,513,785 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2252:Drc1
|
UTSW |
5 |
30,500,075 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2366:Drc1
|
UTSW |
5 |
30,523,894 (GRCm39) |
makesense |
probably null |
|
|
R2570:Drc1
|
UTSW |
5 |
30,512,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4181:Drc1
|
UTSW |
5 |
30,513,057 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4210:Drc1
|
UTSW |
5 |
30,504,490 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4329:Drc1
|
UTSW |
5 |
30,513,002 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4560:Drc1
|
UTSW |
5 |
30,520,441 (GRCm39) |
missense |
probably benign |
|
|
R4765:Drc1
|
UTSW |
5 |
30,506,075 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5239:Drc1
|
UTSW |
5 |
30,520,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5375:Drc1
|
UTSW |
5 |
30,513,745 (GRCm39) |
missense |
probably benign |
|
|
R5838:Drc1
|
UTSW |
5 |
30,523,857 (GRCm39) |
splice site |
probably null |
|
|
R5933:Drc1
|
UTSW |
5 |
30,502,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6014:Drc1
|
UTSW |
5 |
30,502,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Drc1
|
UTSW |
5 |
30,513,632 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6710:Drc1
|
UTSW |
5 |
30,520,429 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6755:Drc1
|
UTSW |
5 |
30,512,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7341:Drc1
|
UTSW |
5 |
30,521,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7592:Drc1
|
UTSW |
5 |
30,499,060 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7651:Drc1
|
UTSW |
5 |
30,516,958 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7770:Drc1
|
UTSW |
5 |
30,507,856 (GRCm39) |
nonsense |
probably null |
|
|
R7976:Drc1
|
UTSW |
5 |
30,521,829 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8483:Drc1
|
UTSW |
5 |
30,507,785 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8861:Drc1
|
UTSW |
5 |
30,521,839 (GRCm39) |
unclassified |
probably benign |
|
|
R8987:Drc1
|
UTSW |
5 |
30,521,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9171:Drc1
|
UTSW |
5 |
30,513,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9425:Drc1
|
UTSW |
5 |
30,502,938 (GRCm39) |
missense |
probably benign |
0.26 |
|
X0018:Drc1
|
UTSW |
5 |
30,502,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Drc1
|
UTSW |
5 |
30,513,767 (GRCm39) |
missense |
probably benign |
0.38 |
|
Z1177:Drc1
|
UTSW |
5 |
30,506,041 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1177:Drc1
|
UTSW |
5 |
30,502,851 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTATAGCTTCGGACGAGAGGTG -3'
(R):5'- AGCTGTCTCCCACGAGAATG -3'
Sequencing Primer
(F):5'- CGGACGAGAGGTGGTCTG -3'
(R):5'- CACGAGAATGCAGCCTCTATTTTG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation