Incidental Mutation 'R4329:Drc1'
| ID |
324510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc1
|
| Ensembl Gene |
ENSMUSG00000073102 |
| Gene Name |
dynein regulatory complex subunit 1 |
| Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
| MMRRC Submission |
041663-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4329 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30486386-30524039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 30513002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 359
(I359L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101448]
|
| AlphaFold |
Q3USS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101448
AA Change: I359L
PolyPhen 2
Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: I359L
| 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: ENSMUST00000198023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200183
|
| Meta Mutation Damage Score |
0.0924 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
96% (68/71) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
C |
A |
5: 113,243,455 (GRCm39) |
|
probably null |
Het |
| Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
| Ampd2 |
C |
A |
3: 107,985,103 (GRCm39) |
|
probably benign |
Het |
| Ang2 |
A |
T |
14: 51,433,325 (GRCm39) |
I19N |
possibly damaging |
Het |
| Brd10 |
G |
T |
19: 29,720,961 (GRCm39) |
T688K |
probably benign |
Het |
| Cacna1s |
A |
C |
1: 136,046,771 (GRCm39) |
D1819A |
probably benign |
Het |
| Cand2 |
C |
A |
6: 115,776,949 (GRCm39) |
H1112Q |
possibly damaging |
Het |
| Catsperd |
T |
A |
17: 56,961,517 (GRCm39) |
I413K |
possibly damaging |
Het |
| Ccdc142 |
T |
A |
6: 83,083,997 (GRCm39) |
|
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Celsr3 |
C |
T |
9: 108,723,248 (GRCm39) |
R2847C |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,373,530 (GRCm39) |
S1270L |
probably damaging |
Het |
| Chka |
T |
C |
19: 3,925,803 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
T |
A |
1: 99,999,888 (GRCm39) |
D215E |
probably damaging |
Het |
| Col13a1 |
T |
C |
10: 61,699,758 (GRCm39) |
T476A |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,799,749 (GRCm39) |
F1539L |
probably damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,458,878 (GRCm39) |
I776F |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,402,966 (GRCm39) |
I3192N |
probably damaging |
Het |
| Dnah7c |
T |
A |
1: 46,688,441 (GRCm39) |
D1870E |
probably benign |
Het |
| Esp1 |
A |
G |
17: 41,039,768 (GRCm39) |
M18V |
probably benign |
Het |
| Exoc1 |
T |
A |
5: 76,715,822 (GRCm39) |
F789L |
probably damaging |
Het |
| Fbxw22 |
T |
A |
9: 109,213,111 (GRCm39) |
T279S |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,904,774 (GRCm39) |
A880V |
probably benign |
Het |
| Gm29514 |
A |
G |
1: 146,296,429 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
T |
C |
6: 110,891,325 (GRCm39) |
L186P |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
| Klk4 |
A |
G |
7: 43,533,830 (GRCm39) |
D202G |
probably damaging |
Het |
| Marchf6 |
C |
T |
15: 31,498,887 (GRCm39) |
E137K |
probably benign |
Het |
| Mpp3 |
T |
C |
11: 101,914,337 (GRCm39) |
|
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,960,861 (GRCm39) |
Y808N |
probably damaging |
Het |
| Myom1 |
C |
T |
17: 71,343,348 (GRCm39) |
L182F |
probably damaging |
Het |
| Nova1 |
A |
T |
12: 46,767,615 (GRCm39) |
I102N |
unknown |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Palm |
G |
A |
10: 79,643,520 (GRCm39) |
G83S |
probably benign |
Het |
| Patl2 |
C |
T |
2: 121,958,018 (GRCm39) |
S80N |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
| Pdgfrb |
A |
T |
18: 61,204,792 (GRCm39) |
I551F |
possibly damaging |
Het |
| Pkmyt1 |
T |
A |
17: 23,951,709 (GRCm39) |
Y88N |
probably damaging |
Het |
| Pnkp |
T |
C |
7: 44,508,018 (GRCm39) |
S114P |
probably benign |
Het |
| Rdm1 |
T |
A |
11: 101,521,734 (GRCm39) |
V92E |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,857,340 (GRCm39) |
R631G |
probably benign |
Het |
| Sin3a |
T |
C |
9: 57,002,642 (GRCm39) |
L178P |
probably damaging |
Het |
| Skint9 |
A |
C |
4: 112,249,062 (GRCm39) |
L122R |
probably damaging |
Het |
| Slc16a13 |
T |
C |
11: 70,108,723 (GRCm39) |
N369S |
probably benign |
Het |
| Strada |
A |
G |
11: 106,077,999 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
C |
A |
17: 34,912,838 (GRCm39) |
S1784Y |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,736,727 (GRCm39) |
V318A |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,267,820 (GRCm39) |
R1589H |
probably damaging |
Het |
| Ttyh1 |
A |
T |
7: 4,133,580 (GRCm39) |
D295V |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,618,969 (GRCm39) |
Y58H |
probably damaging |
Het |
| Xylt1 |
G |
A |
7: 117,255,684 (GRCm39) |
G752D |
probably damaging |
Het |
| Yipf7 |
A |
T |
5: 69,678,465 (GRCm39) |
L55Q |
probably damaging |
Het |
| Zfp827 |
G |
A |
8: 79,916,463 (GRCm39) |
|
probably benign |
Het |
| Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
probably benign |
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 |
|
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'- TCAAGTCCCAGCAGAAGAGG -3'
(R):5'- GGCTGGCTCAAAACAAGCTG -3'
Sequencing Primer
(F):5'- AGACCGGCTTGCTTTCTGGAC -3'
(R):5'- GCTGAGCTCATGTCTAGTGAAATCAC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation