Incidental Mutation 'R6710:Drc1'
| ID |
529089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc1
|
| Ensembl Gene |
ENSMUSG00000073102 |
| Gene Name |
dynein regulatory complex subunit 1 |
| Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
| MMRRC Submission |
044828-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6710 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30486386-30524039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30520429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 590
(D590G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098992
(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 |
possibly damaging
Transcript: ENSMUST00000101448
AA Change: D590G
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: D590G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144125
|
| SMART Domains |
Protein: ENSMUSP00000120679
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 |
noncoding transcript
Transcript: ENSMUST00000150734
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200001
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
G |
T |
10: 87,061,923 (GRCm39) |
E124D |
probably benign |
Het |
| Aph1c |
T |
C |
9: 66,741,802 (GRCm39) |
T27A |
probably benign |
Het |
| Ash2l |
T |
C |
8: 26,309,740 (GRCm39) |
I507V |
possibly damaging |
Het |
| Cela2a |
C |
A |
4: 141,549,554 (GRCm39) |
A74S |
probably damaging |
Het |
| Dcpp3 |
AGGCCATGCTGGCC |
AGGCC |
17: 24,136,572 (GRCm39) |
|
probably benign |
Het |
| Epn1 |
A |
G |
7: 5,100,303 (GRCm39) |
E472G |
probably damaging |
Het |
| Erfe |
A |
G |
1: 91,300,128 (GRCm39) |
D318G |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,190,771 (GRCm39) |
C227R |
probably damaging |
Het |
| Marchf11 |
A |
G |
15: 26,387,949 (GRCm39) |
Y268C |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,553,366 (GRCm39) |
I4309N |
possibly damaging |
Het |
| Nit2 |
A |
G |
16: 56,980,493 (GRCm39) |
V95A |
possibly damaging |
Het |
| Nup205 |
T |
G |
6: 35,224,308 (GRCm39) |
I2049S |
probably benign |
Het |
| Or2h1 |
T |
G |
17: 37,404,638 (GRCm39) |
I43L |
probably damaging |
Het |
| Or7e175 |
C |
T |
9: 20,049,378 (GRCm39) |
A322V |
probably benign |
Het |
| Pcdhb17 |
T |
C |
18: 37,618,452 (GRCm39) |
S81P |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,284,086 (GRCm39) |
I128V |
probably benign |
Het |
| Sem1 |
C |
A |
6: 6,578,497 (GRCm39) |
E20* |
probably null |
Het |
| Tap1 |
C |
T |
17: 34,407,083 (GRCm39) |
A77V |
possibly damaging |
Het |
| Tmem26 |
T |
C |
10: 68,559,884 (GRCm39) |
L52P |
probably damaging |
Het |
| Utp3 |
T |
C |
5: 88,703,823 (GRCm39) |
Y451H |
probably damaging |
Het |
| Vmn2r103 |
T |
A |
17: 20,032,239 (GRCm39) |
I671N |
probably damaging |
Het |
| Zbtb39 |
T |
A |
10: 127,579,505 (GRCm39) |
I693N |
probably damaging |
Het |
| Zfp174 |
A |
G |
16: 3,665,921 (GRCm39) |
E62G |
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 |
|
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'- AGGTCTCATTCCAGAGCCTG -3'
(R):5'- TGACAAAGGCCTCCAGAATCTTG -3'
Sequencing Primer
(F):5'- CCATGGAAGACTGCTGCTTACTAG -3'
(R):5'- CCAGAATCTTGAGAACATCATTGGG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation