Incidental Mutation 'R2252:Drc1'
| ID |
241737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc1
|
| Ensembl Gene |
ENSMUSG00000073102 |
| Gene Name |
dynein regulatory complex subunit 1 |
| Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
| MMRRC Submission |
040252-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
30486386-30524039 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 30500075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 103
(V103F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101448]
|
| AlphaFold |
Q3USS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101448
AA Change: V103F
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: V103F
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
| Acaca |
G |
T |
11: 84,262,358 (GRCm39) |
V1987L |
probably damaging |
Het |
| B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
| BC048507 |
T |
C |
13: 68,011,626 (GRCm39) |
M1T |
probably null |
Het |
| Bckdk |
C |
A |
7: 127,504,590 (GRCm39) |
R105S |
probably damaging |
Het |
| Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
| Cd180 |
A |
T |
13: 102,842,906 (GRCm39) |
K651* |
probably null |
Het |
| Cdh15 |
T |
A |
8: 123,584,161 (GRCm39) |
D87E |
probably damaging |
Het |
| Cldn24 |
G |
T |
8: 48,275,363 (GRCm39) |
R62S |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
| Cspg4 |
C |
T |
9: 56,805,330 (GRCm39) |
T2047I |
probably damaging |
Het |
| Cul2 |
A |
T |
18: 3,399,876 (GRCm39) |
L3F |
probably damaging |
Het |
| Cwc27 |
A |
T |
13: 104,768,237 (GRCm39) |
H419Q |
probably damaging |
Het |
| Dgkg |
A |
T |
16: 22,441,010 (GRCm39) |
M1K |
probably null |
Het |
| Dock5 |
A |
T |
14: 68,022,261 (GRCm39) |
L1171H |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,866,957 (GRCm39) |
N1062K |
unknown |
Het |
| Faap20 |
A |
C |
4: 155,335,010 (GRCm39) |
E37A |
possibly damaging |
Het |
| Foxa2 |
A |
G |
2: 147,886,086 (GRCm39) |
F243S |
probably damaging |
Het |
| Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
| Itch |
T |
A |
2: 155,054,259 (GRCm39) |
M701K |
probably benign |
Het |
| Kpna1 |
T |
C |
16: 35,841,939 (GRCm39) |
Y280H |
possibly damaging |
Het |
| L1td1 |
A |
G |
4: 98,625,874 (GRCm39) |
|
probably null |
Het |
| Lrrc37a |
T |
C |
11: 103,392,293 (GRCm39) |
Q1044R |
probably benign |
Het |
| Lrrc52 |
A |
T |
1: 167,293,937 (GRCm39) |
I116N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,698 (GRCm39) |
E636G |
probably damaging |
Het |
| Mrpl40 |
T |
C |
16: 18,694,125 (GRCm39) |
H29R |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,088,173 (GRCm39) |
Y1128C |
probably damaging |
Het |
| Or10d3 |
G |
T |
9: 39,461,273 (GRCm39) |
A298D |
probably damaging |
Het |
| Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
| Or8c8 |
A |
G |
9: 38,165,126 (GRCm39) |
I135V |
probably benign |
Het |
| Pard3 |
A |
T |
8: 128,337,080 (GRCm39) |
E1232V |
probably damaging |
Het |
| Pcif1 |
A |
G |
2: 164,732,799 (GRCm39) |
E628G |
probably benign |
Het |
| Pcsk1 |
C |
A |
13: 75,274,845 (GRCm39) |
A478D |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,784,177 (GRCm39) |
Y700C |
probably damaging |
Het |
| Pknox2 |
T |
C |
9: 36,821,816 (GRCm39) |
N270D |
probably benign |
Het |
| Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
| Reep1 |
T |
A |
6: 71,733,426 (GRCm39) |
|
probably null |
Het |
| Sash1 |
A |
T |
10: 8,605,741 (GRCm39) |
M883K |
probably benign |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Septin4 |
A |
G |
11: 87,480,637 (GRCm39) |
N405D |
possibly damaging |
Het |
| Serpinb3b |
T |
C |
1: 107,083,208 (GRCm39) |
I231M |
possibly damaging |
Het |
| Serping1 |
A |
G |
2: 84,600,195 (GRCm39) |
S322P |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
| Spink5 |
G |
T |
18: 44,153,891 (GRCm39) |
E1013* |
probably null |
Het |
| Thoc3 |
A |
T |
13: 54,615,646 (GRCm39) |
N139K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tubb2b |
T |
A |
13: 34,314,198 (GRCm39) |
I7F |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,966,271 (GRCm39) |
D297G |
unknown |
Het |
| Vmn2r18 |
T |
C |
5: 151,508,441 (GRCm39) |
I228V |
possibly damaging |
Het |
| Vmn2r98 |
A |
C |
17: 19,300,698 (GRCm39) |
S567R |
probably benign |
Het |
| Vwa5a |
T |
C |
9: 38,639,376 (GRCm39) |
I369T |
probably damaging |
Het |
| Yjefn3 |
A |
C |
8: 70,342,095 (GRCm39) |
F42V |
probably damaging |
Het |
| Zfp472 |
A |
T |
17: 33,195,257 (GRCm39) |
R69* |
probably null |
Het |
| Zfp536 |
T |
C |
7: 37,178,814 (GRCm39) |
S200G |
probably benign |
Het |
| Zfp970 |
T |
A |
2: 177,166,614 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCTACTTATGTGCCCCGGG -3'
(R):5'- GCTTGGGACACTTGAGGAAG -3'
Sequencing Primer
(F):5'- TGATTCCTACAGTGCGGGTCC -3'
(R):5'- AGGACGGTGGGTTCACAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation