Incidental Mutation 'R9171:Drc1'
| ID |
696393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Drc1
|
| Ensembl Gene |
ENSMUSG00000073102 |
| Gene Name |
dynein regulatory complex subunit 1 |
| Synonyms |
Gm1060, Ccdc164, b2b1654Clo, LOC381738 |
| MMRRC Submission |
068976-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9171 (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 G
at 30513794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 450
(Q450R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101448]
|
| AlphaFold |
Q3USS3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101448
AA Change: Q450R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000098992
Gene: ENSMUSG00000073102
AA Change: Q450R
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (58/59) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
T |
A |
15: 41,732,512 (GRCm39) |
T185S |
possibly damaging |
Het |
| Acad10 |
T |
A |
5: 121,767,981 (GRCm39) |
H823L |
probably benign |
Het |
| Acly |
A |
G |
11: 100,407,657 (GRCm39) |
V231A |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,381 (GRCm39) |
N1026S |
probably benign |
Het |
| Amot |
A |
T |
X: 144,244,745 (GRCm39) |
L435H |
|
Het |
| Ankrd65 |
A |
G |
4: 155,875,800 (GRCm39) |
E7G |
probably benign |
Het |
| Ap1g2 |
T |
C |
14: 55,336,581 (GRCm39) |
H771R |
probably benign |
Het |
| Atp9a |
A |
G |
2: 168,485,780 (GRCm39) |
|
probably null |
Het |
| Atxn10 |
T |
G |
15: 85,277,557 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,607,060 (GRCm39) |
L53P |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,161,810 (GRCm39) |
N2014S |
probably benign |
Het |
| Cma1 |
T |
C |
14: 56,181,189 (GRCm39) |
N72S |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,807,953 (GRCm39) |
G2551D |
unknown |
Het |
| Cyp20a1 |
T |
G |
1: 60,415,343 (GRCm39) |
L323R |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,894,918 (GRCm39) |
V3643E |
probably damaging |
Het |
| Dnmt3l |
A |
C |
10: 77,895,518 (GRCm39) |
D352A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,589,670 (GRCm39) |
N462K |
probably benign |
Het |
| Drgx |
C |
T |
14: 32,330,339 (GRCm39) |
S152F |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,800,708 (GRCm39) |
T2977A |
probably benign |
Het |
| Eid3 |
C |
T |
10: 82,703,316 (GRCm39) |
T259M |
probably damaging |
Het |
| Eif2ak3 |
T |
G |
6: 70,835,419 (GRCm39) |
D115E |
probably damaging |
Het |
| Ezh2 |
A |
C |
6: 47,531,134 (GRCm39) |
D183E |
probably benign |
Het |
| Fam114a1 |
A |
C |
5: 65,191,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
G |
A |
13: 98,891,607 (GRCm39) |
T385I |
probably benign |
Het |
| Gm6882 |
C |
A |
7: 21,161,254 (GRCm39) |
E205* |
probably null |
Het |
| Hexim2 |
G |
A |
11: 103,029,822 (GRCm39) |
W291* |
probably null |
Het |
| Hnrnpab |
A |
C |
11: 51,492,710 (GRCm39) |
S265R |
unknown |
Het |
| Hsd17b1 |
A |
G |
11: 100,969,832 (GRCm39) |
N115D |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,315,641 (GRCm39) |
D593G |
possibly damaging |
Het |
| Inf2 |
C |
A |
12: 112,567,965 (GRCm39) |
C172* |
probably null |
Het |
| Invs |
A |
T |
4: 48,398,149 (GRCm39) |
N445I |
possibly damaging |
Het |
| Izumo2 |
A |
G |
7: 44,369,184 (GRCm39) |
Q186R |
probably benign |
Het |
| Kcnj15 |
T |
C |
16: 95,097,481 (GRCm39) |
F368L |
probably benign |
Het |
| Kctd20 |
A |
G |
17: 29,185,866 (GRCm39) |
D403G |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,486,309 (GRCm39) |
V4748G |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,393,140 (GRCm39) |
S762P |
probably benign |
Het |
| Man2c1 |
C |
T |
9: 57,044,317 (GRCm39) |
Q324* |
probably null |
Het |
| Mgam |
A |
G |
6: 40,745,146 (GRCm39) |
I1804M |
possibly damaging |
Het |
| Mmp28 |
A |
G |
11: 83,335,661 (GRCm39) |
V279A |
probably benign |
Het |
| Mrpl22 |
T |
C |
11: 58,070,185 (GRCm39) |
V164A |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,952,329 (GRCm39) |
H3913Q |
possibly damaging |
Het |
| Or6e1 |
T |
C |
14: 54,520,329 (GRCm39) |
T8A |
probably benign |
Het |
| Or8g50 |
C |
T |
9: 39,648,516 (GRCm39) |
T135I |
probably benign |
Het |
| Paqr6 |
A |
G |
3: 88,273,066 (GRCm39) |
T46A |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,178,550 (GRCm39) |
D1789G |
probably benign |
Het |
| Pou4f2 |
T |
C |
8: 79,162,748 (GRCm39) |
T96A |
probably benign |
Het |
| Ppp1r12b |
A |
T |
1: 134,801,725 (GRCm39) |
V497E |
probably benign |
Het |
| Prdm13 |
C |
G |
4: 21,679,659 (GRCm39) |
R277P |
unknown |
Het |
| Rsph4a |
C |
T |
10: 33,785,438 (GRCm39) |
Q450* |
probably null |
Het |
| Sh3d19 |
C |
T |
3: 85,990,918 (GRCm39) |
|
probably benign |
Het |
| Slc39a14 |
T |
C |
14: 70,547,687 (GRCm39) |
T259A |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,680,672 (GRCm39) |
T404A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,141,844 (GRCm39) |
C50S |
possibly damaging |
Het |
| Stx8 |
A |
C |
11: 67,875,471 (GRCm39) |
N99H |
possibly damaging |
Het |
| Tgfbi |
A |
T |
13: 56,773,526 (GRCm39) |
M175L |
probably damaging |
Het |
| Themis |
C |
A |
10: 28,658,233 (GRCm39) |
T420N |
probably benign |
Het |
| Tle1 |
A |
T |
4: 72,043,232 (GRCm39) |
C536S |
possibly damaging |
Het |
| Tprn |
A |
G |
2: 25,152,799 (GRCm39) |
S34G |
probably benign |
Het |
| Vmn1r80 |
A |
T |
7: 11,927,124 (GRCm39) |
D78V |
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 |
|
R8861:Drc1
|
UTSW |
5 |
30,521,839 (GRCm39) |
unclassified |
probably benign |
|
|
R8987:Drc1
|
UTSW |
5 |
30,521,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCATCGATGAGGAGAAGTTTCGG -3'
(R):5'- CCTAATGTGTATGAGGCGCTGG -3'
Sequencing Primer
(F):5'- AGAAGTTTCGGGAGATTTGGC -3'
(R):5'- AGGTCAGAGGTCAGTTCTCTCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation