Incidental Mutation 'R8483:Drc1'
ID |
657614 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Drc1
|
Ensembl Gene |
ENSMUSG00000073102 |
Gene Name |
dynein regulatory complex subunit 1 |
Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
MMRRC Submission |
067927-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8483 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
30486386-30524039 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30507785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 269
(Y269F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101448]
|
AlphaFold |
Q3USS3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000101448
AA Change: Y269F
PolyPhen 2
Score 0.275 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000098992 Gene: ENSMUSG00000073102 AA Change: Y269F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (54/54) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang6 |
A |
G |
14: 44,239,285 (GRCm39) |
*148Q |
probably null |
Het |
Ankrd28 |
A |
T |
14: 31,457,048 (GRCm39) |
|
probably null |
Het |
Ark2c |
G |
A |
18: 77,556,034 (GRCm39) |
A174V |
probably benign |
Het |
Aurkc |
T |
A |
7: 6,999,664 (GRCm39) |
L57* |
probably null |
Het |
Brca1 |
T |
C |
11: 101,416,802 (GRCm39) |
D444G |
probably damaging |
Het |
Cd200l1 |
T |
A |
16: 45,240,235 (GRCm39) |
I134F |
possibly damaging |
Het |
Cdhr4 |
T |
C |
9: 107,872,198 (GRCm39) |
V204A |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,822,412 (GRCm39) |
D835G |
possibly damaging |
Het |
Cux1 |
C |
A |
5: 136,303,944 (GRCm39) |
A1328S |
possibly damaging |
Het |
Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
Cyp39a1 |
A |
G |
17: 43,993,898 (GRCm39) |
D186G |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,536,253 (GRCm39) |
I3677V |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,516,306 (GRCm39) |
D477G |
probably damaging |
Het |
Esco2 |
T |
C |
14: 66,069,118 (GRCm39) |
H64R |
probably benign |
Het |
Gcnt3 |
A |
T |
9: 69,941,959 (GRCm39) |
V203E |
probably damaging |
Het |
Gpam |
A |
C |
19: 55,077,374 (GRCm39) |
V139G |
probably damaging |
Het |
Gsta3 |
G |
A |
1: 21,333,063 (GRCm39) |
S104N |
probably damaging |
Het |
Hsd17b13 |
C |
T |
5: 104,125,049 (GRCm39) |
G45R |
probably damaging |
Het |
Ighe |
T |
C |
12: 113,235,808 (GRCm39) |
M173V |
|
Het |
Ipo5 |
A |
G |
14: 121,183,560 (GRCm39) |
E1046G |
probably benign |
Het |
Kank4 |
T |
A |
4: 98,659,615 (GRCm39) |
Q821L |
probably damaging |
Het |
Kat6b |
G |
T |
14: 21,719,461 (GRCm39) |
S1271I |
probably damaging |
Het |
Klhl1 |
A |
G |
14: 96,619,370 (GRCm39) |
S176P |
probably benign |
Het |
Lbhd2 |
G |
A |
12: 111,378,190 (GRCm39) |
D86N |
probably damaging |
Het |
Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
Lrrc55 |
A |
T |
2: 85,022,295 (GRCm39) |
C299S |
probably benign |
Het |
Mtres1 |
T |
C |
10: 43,408,915 (GRCm39) |
Y76C |
probably benign |
Het |
Nprl3 |
T |
A |
11: 32,213,083 (GRCm39) |
S44C |
probably damaging |
Het |
Nucks1 |
A |
G |
1: 131,855,829 (GRCm39) |
H86R |
possibly damaging |
Het |
Or14j3 |
A |
G |
17: 37,900,866 (GRCm39) |
V126A |
possibly damaging |
Het |
Or4s2 |
A |
G |
2: 88,473,678 (GRCm39) |
D189G |
probably benign |
Het |
Or6c219 |
T |
A |
10: 129,780,998 (GRCm39) |
H311L |
probably benign |
Het |
Ovgp1 |
T |
A |
3: 105,894,311 (GRCm39) |
|
probably benign |
Het |
Oxa1l |
G |
A |
14: 54,606,001 (GRCm39) |
|
probably null |
Het |
Patj |
C |
A |
4: 98,312,539 (GRCm39) |
H292Q |
probably damaging |
Het |
Pcdha9 |
A |
G |
18: 37,131,636 (GRCm39) |
N235S |
probably benign |
Het |
Pcdhb12 |
A |
T |
18: 37,570,590 (GRCm39) |
T579S |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,118,803 (GRCm39) |
I647M |
probably benign |
Het |
Pdp1 |
T |
C |
4: 11,961,982 (GRCm39) |
R110G |
probably benign |
Het |
Prb1a |
T |
G |
6: 132,185,398 (GRCm39) |
R78S |
unknown |
Het |
Prmt8 |
A |
C |
6: 127,680,976 (GRCm39) |
|
probably null |
Het |
Semp2l2a |
T |
A |
8: 13,888,229 (GRCm39) |
|
probably benign |
Het |
Slc35f2 |
T |
A |
9: 53,716,985 (GRCm39) |
Y249* |
probably null |
Het |
Smok2b |
A |
C |
17: 13,453,908 (GRCm39) |
M23L |
probably benign |
Het |
Sra1 |
A |
G |
18: 36,800,879 (GRCm39) |
I153T |
probably benign |
Het |
Stk38l |
T |
A |
6: 146,660,017 (GRCm39) |
H16Q |
possibly damaging |
Het |
Tent5c |
T |
A |
3: 100,379,784 (GRCm39) |
H324L |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,732,869 (GRCm39) |
S3073P |
possibly damaging |
Het |
Usp24 |
T |
C |
4: 106,230,953 (GRCm39) |
I844T |
probably damaging |
Het |
V1ra8 |
A |
T |
6: 90,179,916 (GRCm39) |
I40F |
probably benign |
Het |
Vmn2r88 |
T |
A |
14: 51,650,530 (GRCm39) |
M81K |
possibly damaging |
Het |
Vps8 |
T |
C |
16: 21,393,763 (GRCm39) |
I1182T |
probably damaging |
Het |
Wdr54 |
A |
G |
6: 83,130,591 (GRCm39) |
V181A |
probably benign |
Het |
Zbed4 |
A |
G |
15: 88,665,990 (GRCm39) |
Y686C |
probably damaging |
Het |
Zfyve28 |
T |
C |
5: 34,393,480 (GRCm39) |
N62S |
possibly damaging |
Het |
Zic1 |
T |
C |
9: 91,246,424 (GRCm39) |
Y216C |
probably 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 |
R4036:Drc1
|
UTSW |
5 |
30,504,526 (GRCm39) |
missense |
probably benign |
|
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 |
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'- CCTCTCTGTAGTTTCTGCAATAAG -3'
(R):5'- ACTTTGCAGGGAATGGCTGC -3'
Sequencing Primer
(F):5'- GTAGTTTCTGCAATAAGAACCTAGC -3'
(R):5'- AATGGCTGCCTCTGAGACACTG -3'
|
Posted On |
2021-01-18 |