Incidental Mutation 'R8861:Drc1'
| ID |
713499 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc1
|
| Ensembl Gene |
ENSMUSG00000073102 |
| Gene Name |
dynein regulatory complex subunit 1 |
| Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
| MMRRC Submission |
068740-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8861 (G1)
|
| Quality Score |
206.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
30486386-30524039 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 30521839 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074171]
[ENSMUST00000101448]
[ENSMUST00000114747]
|
| AlphaFold |
Q3USS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074171
|
| SMART Domains |
Protein: ENSMUSP00000073803
Gene: ENSMUSG00000062372
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
2 |
97 |
6.83e-1 |
SMART |
|
C2
|
254 |
352 |
3.76e-11 |
SMART |
|
FerI
|
338 |
409 |
7.91e-38 |
SMART |
|
C2
|
417 |
528 |
1.75e-11 |
SMART |
|
low complexity region
|
607 |
618 |
N/A |
INTRINSIC |
|
FerB
|
841 |
917 |
5.13e-46 |
SMART |
|
C2
|
960 |
1067 |
1.77e-7 |
SMART |
|
low complexity region
|
1191 |
1202 |
N/A |
INTRINSIC |
|
low complexity region
|
1265 |
1276 |
N/A |
INTRINSIC |
|
low complexity region
|
1293 |
1323 |
N/A |
INTRINSIC |
|
low complexity region
|
1370 |
1385 |
N/A |
INTRINSIC |
|
low complexity region
|
1436 |
1447 |
N/A |
INTRINSIC |
|
C2
|
1493 |
1592 |
6.54e-11 |
SMART |
|
C2
|
1733 |
1863 |
4.02e0 |
SMART |
|
Pfam:Ferlin_C
|
1895 |
1994 |
7.2e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101448
|
| SMART Domains |
Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
| 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 |
probably benign
Transcript: ENSMUST00000114747
|
| SMART Domains |
Protein: ENSMUSP00000110395
Gene: ENSMUSG00000062372
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
2 |
97 |
6.83e-1 |
SMART |
|
C2
|
269 |
367 |
3.76e-11 |
SMART |
|
FerI
|
353 |
424 |
7.91e-38 |
SMART |
|
C2
|
432 |
543 |
1.75e-11 |
SMART |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
FerB
|
856 |
932 |
5.13e-46 |
SMART |
|
C2
|
975 |
1082 |
1.77e-7 |
SMART |
|
Pfam:C2
|
1153 |
1236 |
1.8e-1 |
PFAM |
|
low complexity region
|
1260 |
1271 |
N/A |
INTRINSIC |
|
low complexity region
|
1288 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1365 |
1380 |
N/A |
INTRINSIC |
|
low complexity region
|
1431 |
1442 |
N/A |
INTRINSIC |
|
C2
|
1488 |
1587 |
6.54e-11 |
SMART |
|
C2
|
1728 |
1858 |
4.02e0 |
SMART |
|
low complexity region
|
1903 |
1915 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1959 |
1981 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (59/59) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,396,642 (GRCm39) |
|
probably benign |
Het |
| Acly |
A |
G |
11: 100,375,424 (GRCm39) |
|
probably null |
Het |
| Agap2 |
T |
G |
10: 126,926,383 (GRCm39) |
V896G |
unknown |
Het |
| Agtpbp1 |
T |
C |
13: 59,643,287 (GRCm39) |
Y724C |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,767,373 (GRCm39) |
N135D |
probably damaging |
Het |
| Aox3 |
T |
A |
1: 58,189,460 (GRCm39) |
I387K |
probably benign |
Het |
| Bysl |
T |
C |
17: 47,917,884 (GRCm39) |
E103G |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,861,690 (GRCm39) |
K1168* |
probably null |
Het |
| Chmp5 |
T |
A |
4: 40,964,608 (GRCm39) |
V208E |
probably damaging |
Het |
| Chst9 |
T |
G |
18: 15,585,630 (GRCm39) |
H311P |
possibly damaging |
Het |
| Cilk1 |
T |
A |
9: 78,071,844 (GRCm39) |
N505K |
probably benign |
Het |
| Dcaf11 |
C |
A |
14: 55,801,955 (GRCm39) |
Y235* |
probably null |
Het |
| Dlx5 |
A |
C |
6: 6,878,233 (GRCm39) |
S266A |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,280,236 (GRCm39) |
S2722T |
possibly damaging |
Het |
| En2 |
T |
A |
5: 28,371,733 (GRCm39) |
I70N |
probably damaging |
Het |
| Fam72a |
T |
C |
1: 131,466,656 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Fermt2 |
A |
T |
14: 45,697,466 (GRCm39) |
F628L |
possibly damaging |
Het |
| Fkrp |
T |
A |
7: 16,544,749 (GRCm39) |
D371V |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,195,149 (GRCm39) |
L283P |
unknown |
Het |
| Gm13271 |
G |
A |
4: 88,673,366 (GRCm39) |
V88I |
probably benign |
Het |
| Gnmt |
G |
A |
17: 47,037,618 (GRCm39) |
T120M |
probably damaging |
Het |
| H2-T22 |
A |
T |
17: 36,353,290 (GRCm39) |
V10D |
possibly damaging |
Het |
| Hbs1l |
T |
A |
10: 21,220,963 (GRCm39) |
|
probably benign |
Het |
| Igf2bp3 |
A |
C |
6: 49,082,550 (GRCm39) |
M344R |
possibly damaging |
Het |
| Kdm1b |
T |
C |
13: 47,217,582 (GRCm39) |
V347A |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,851,865 (GRCm39) |
S2R |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,675,164 (GRCm39) |
S199P |
probably benign |
Het |
| Ltk |
T |
A |
2: 119,590,094 (GRCm39) |
Q44L |
probably benign |
Het |
| Map3k20 |
C |
A |
2: 72,219,811 (GRCm39) |
|
probably benign |
Het |
| Matn4 |
A |
T |
2: 164,234,825 (GRCm39) |
Y549N |
|
Het |
| Mcoln3 |
T |
A |
3: 145,845,159 (GRCm39) |
F452I |
probably damaging |
Het |
| Mipol1 |
T |
C |
12: 57,352,802 (GRCm39) |
V47A |
probably benign |
Het |
| Msh4 |
A |
G |
3: 153,607,105 (GRCm39) |
L145S |
probably benign |
Het |
| Myh11 |
A |
T |
16: 14,064,646 (GRCm39) |
I224N |
|
Het |
| Nat8f1 |
A |
G |
6: 85,887,444 (GRCm39) |
L172P |
probably damaging |
Het |
| Ncoa7 |
T |
A |
10: 30,567,364 (GRCm39) |
K438I |
probably benign |
Het |
| Nr1h3 |
T |
G |
2: 91,024,026 (GRCm39) |
|
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,847,484 (GRCm39) |
|
probably null |
Het |
| Or4b12 |
T |
C |
2: 90,096,803 (GRCm39) |
|
probably benign |
Het |
| Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
| Or7h8 |
A |
T |
9: 20,124,377 (GRCm39) |
H244L |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,825,456 (GRCm39) |
Y98N |
probably benign |
Het |
| Ppp6r2 |
T |
G |
15: 89,143,368 (GRCm39) |
C172G |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,446,186 (GRCm39) |
D979G |
probably damaging |
Het |
| Rbm28 |
A |
G |
6: 29,152,284 (GRCm39) |
I329T |
probably damaging |
Het |
| Rnf144a |
T |
C |
12: 26,389,343 (GRCm39) |
T33A |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,445,984 (GRCm39) |
T273A |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,333,062 (GRCm39) |
R2758H |
|
Het |
| Slc22a19 |
A |
T |
19: 7,660,324 (GRCm39) |
M362K |
possibly damaging |
Het |
| Slc29a4 |
G |
C |
5: 142,704,580 (GRCm39) |
R374P |
probably damaging |
Het |
| Slc43a1 |
A |
G |
2: 84,691,748 (GRCm39) |
T528A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,801,630 (GRCm39) |
Y172N |
probably damaging |
Het |
| Srpra |
T |
A |
9: 35,127,045 (GRCm39) |
M573K |
probably benign |
Het |
| Steap4 |
A |
G |
5: 8,025,672 (GRCm39) |
I78V |
probably benign |
Het |
| Sulf2 |
A |
G |
2: 165,974,606 (GRCm39) |
L26P |
possibly damaging |
Het |
| Taok2 |
T |
C |
7: 126,470,615 (GRCm39) |
K738E |
probably damaging |
Het |
| Tcea3 |
G |
A |
4: 135,981,810 (GRCm39) |
R56H |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,736,726 (GRCm39) |
V1575A |
probably damaging |
Het |
| Togaram1 |
T |
G |
12: 65,027,406 (GRCm39) |
S798R |
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 |
|
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 |
|
R8483:Drc1
|
UTSW |
5 |
30,507,785 (GRCm39) |
missense |
probably benign |
0.28 |
|
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'- GGGCCTGGCTTCTAATCAATAGAG -3'
(R):5'- GCTACGTATAGAGTTTGAGGCTAG -3'
Sequencing Primer
(F):5'- CCTGGCTTCTAATCAATAGAGGATGG -3'
(R):5'- AGGCTAGCCTAGTCTACCTGAC -3'
|
| Posted On |
2022-05-25 |
Incidental Mutation