Incidental Mutation 'R6364:Dync2i1'
ID |
513435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
044514-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6364 (G1)
|
Quality Score |
180.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116205352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 412
(D412E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
AlphaFold |
Q8C761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039349
AA Change: D412E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: D412E
Domain | Start | End | E-Value | Type |
coiled coil region
|
84 |
122 |
N/A |
INTRINSIC |
low complexity region
|
168 |
193 |
N/A |
INTRINSIC |
low complexity region
|
226 |
242 |
N/A |
INTRINSIC |
coiled coil region
|
280 |
309 |
N/A |
INTRINSIC |
low complexity region
|
319 |
337 |
N/A |
INTRINSIC |
low complexity region
|
439 |
453 |
N/A |
INTRINSIC |
WD40
|
629 |
668 |
2.77e-1 |
SMART |
Blast:WD40
|
694 |
755 |
2e-7 |
BLAST |
WD40
|
846 |
881 |
3.84e0 |
SMART |
WD40
|
884 |
926 |
5.55e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223039
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
99% (69/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,869,673 (GRCm39) |
Y234C |
possibly damaging |
Het |
Ambra1 |
C |
A |
2: 91,603,661 (GRCm39) |
H548Q |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,546,328 (GRCm39) |
|
probably null |
Het |
Apol11b |
A |
G |
15: 77,522,258 (GRCm39) |
V13A |
possibly damaging |
Het |
Arhgdib |
C |
T |
6: 136,909,253 (GRCm39) |
|
probably null |
Het |
B3galt1 |
T |
A |
2: 67,949,016 (GRCm39) |
S244T |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,214,633 (GRCm39) |
I274V |
probably benign |
Het |
Bfsp2 |
A |
T |
9: 103,325,827 (GRCm39) |
V272D |
probably damaging |
Het |
Blm |
A |
T |
7: 80,144,274 (GRCm39) |
C782* |
probably null |
Het |
Cfi |
G |
A |
3: 129,666,495 (GRCm39) |
S406N |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
A |
7: 24,972,248 (GRCm39) |
H660N |
possibly damaging |
Het |
Cops3 |
A |
G |
11: 59,726,230 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,950,939 (GRCm39) |
V502I |
possibly damaging |
Het |
Epop |
A |
G |
11: 97,519,513 (GRCm39) |
S199P |
probably benign |
Het |
Evi5 |
G |
T |
5: 107,989,979 (GRCm39) |
P80Q |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,818,997 (GRCm39) |
V623A |
possibly damaging |
Het |
Fam83c |
T |
C |
2: 155,676,443 (GRCm39) |
D109G |
probably damaging |
Het |
Fam83d |
T |
C |
2: 158,625,179 (GRCm39) |
|
probably null |
Het |
Flacc1 |
G |
T |
1: 58,697,531 (GRCm39) |
A403D |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,952 (GRCm39) |
N71D |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,756,402 (GRCm39) |
R1016G |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,507,878 (GRCm39) |
E396G |
possibly damaging |
Het |
Htra2 |
C |
A |
6: 83,030,027 (GRCm39) |
V311F |
probably damaging |
Het |
Kif6 |
A |
T |
17: 49,927,651 (GRCm39) |
T33S |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,514,634 (GRCm39) |
I3070V |
probably null |
Het |
Krtap5-2 |
A |
T |
7: 141,728,800 (GRCm39) |
C293* |
probably null |
Het |
Lrp3 |
T |
A |
7: 34,903,134 (GRCm39) |
D404V |
probably benign |
Het |
LTO1 |
A |
G |
7: 144,473,005 (GRCm39) |
D105G |
probably benign |
Het |
Mc2r |
T |
G |
18: 68,540,607 (GRCm39) |
I229L |
probably benign |
Het |
Mtnr1b |
A |
G |
9: 15,774,300 (GRCm39) |
M253T |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,094,909 (GRCm39) |
N531S |
probably benign |
Het |
Niban3 |
G |
A |
8: 72,051,733 (GRCm39) |
G23S |
probably benign |
Het |
Npr2 |
T |
A |
4: 43,643,622 (GRCm39) |
I550N |
probably damaging |
Het |
Npy6r |
T |
C |
18: 44,409,578 (GRCm39) |
I333T |
possibly damaging |
Het |
Nup88 |
C |
T |
11: 70,838,612 (GRCm39) |
R468Q |
probably benign |
Het |
Nup98 |
G |
A |
7: 101,825,522 (GRCm39) |
T422I |
probably damaging |
Het |
Or10aa1 |
T |
A |
1: 173,869,778 (GRCm39) |
H87Q |
possibly damaging |
Het |
Otud4 |
A |
G |
8: 80,372,970 (GRCm39) |
N96S |
probably damaging |
Het |
Paqr6 |
T |
C |
3: 88,273,265 (GRCm39) |
F86L |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,138,035 (GRCm39) |
T90S |
probably benign |
Het |
Ptbp2 |
A |
T |
3: 119,534,091 (GRCm39) |
N23K |
probably damaging |
Het |
Ralgapb |
G |
T |
2: 158,304,029 (GRCm39) |
G596V |
probably damaging |
Het |
Rdm1 |
G |
A |
11: 101,521,068 (GRCm39) |
R94H |
probably benign |
Het |
Rergl |
A |
T |
6: 139,477,746 (GRCm39) |
F28I |
probably damaging |
Het |
Rif1 |
G |
T |
2: 51,997,681 (GRCm39) |
S1000I |
probably damaging |
Het |
Rnf141 |
C |
T |
7: 110,420,516 (GRCm39) |
A163T |
possibly damaging |
Het |
Scaf4 |
G |
A |
16: 90,057,136 (GRCm39) |
Q72* |
probably null |
Het |
Sdk1 |
G |
T |
5: 141,948,464 (GRCm39) |
S603I |
probably benign |
Het |
Sdsl |
T |
C |
5: 120,598,674 (GRCm39) |
I147M |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,495 (GRCm39) |
N85D |
probably benign |
Het |
Serpinf2 |
A |
G |
11: 75,327,315 (GRCm39) |
I204T |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,964,146 (GRCm39) |
S795G |
probably benign |
Het |
Simc1 |
C |
T |
13: 54,672,413 (GRCm39) |
Q254* |
probably null |
Het |
Slc30a3 |
G |
A |
5: 31,246,083 (GRCm39) |
P216S |
possibly damaging |
Het |
Smim14 |
T |
A |
5: 65,610,639 (GRCm39) |
I53F |
probably benign |
Het |
Sp3 |
T |
C |
2: 72,801,285 (GRCm39) |
T243A |
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,745,465 (GRCm39) |
F164L |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,543,910 (GRCm39) |
F4403L |
probably damaging |
Het |
Tbc1d30 |
T |
C |
10: 121,130,630 (GRCm39) |
T267A |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
Tmbim6 |
T |
C |
15: 99,304,066 (GRCm39) |
L113P |
probably damaging |
Het |
Tmcc1 |
G |
A |
6: 116,020,722 (GRCm39) |
|
probably benign |
Het |
Tomm7 |
A |
G |
5: 24,049,028 (GRCm39) |
L15P |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,691,875 (GRCm39) |
Y263C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,985,733 (GRCm39) |
F456S |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vmn2r108 |
A |
G |
17: 20,691,260 (GRCm39) |
I421T |
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,964,649 (GRCm39) |
E676G |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,331,598 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
C |
A |
2: 168,754,186 (GRCm39) |
G25V |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,763,079 (GRCm39) |
P326H |
probably damaging |
Het |
|
Other mutations in Dync2i1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00586:Dync2i1
|
APN |
12 |
116,205,400 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00668:Dync2i1
|
APN |
12 |
116,221,048 (GRCm39) |
missense |
probably benign |
0.32 |
IGL00914:Dync2i1
|
APN |
12 |
116,196,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01061:Dync2i1
|
APN |
12 |
116,193,324 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01375:Dync2i1
|
APN |
12 |
116,193,296 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01758:Dync2i1
|
APN |
12 |
116,182,418 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01930:Dync2i1
|
APN |
12 |
116,189,583 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02028:Dync2i1
|
APN |
12 |
116,219,681 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03180:Dync2i1
|
APN |
12 |
116,182,485 (GRCm39) |
missense |
probably benign |
0.07 |
F5770:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0153:Dync2i1
|
UTSW |
12 |
116,196,256 (GRCm39) |
missense |
probably benign |
0.01 |
R0265:Dync2i1
|
UTSW |
12 |
116,221,026 (GRCm39) |
splice site |
probably benign |
|
R0364:Dync2i1
|
UTSW |
12 |
116,221,097 (GRCm39) |
splice site |
probably benign |
|
R0601:Dync2i1
|
UTSW |
12 |
116,219,555 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0624:Dync2i1
|
UTSW |
12 |
116,211,910 (GRCm39) |
missense |
probably damaging |
0.98 |
R0755:Dync2i1
|
UTSW |
12 |
116,175,412 (GRCm39) |
missense |
probably benign |
0.01 |
R1023:Dync2i1
|
UTSW |
12 |
116,196,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R1065:Dync2i1
|
UTSW |
12 |
116,219,696 (GRCm39) |
missense |
probably damaging |
0.98 |
R1543:Dync2i1
|
UTSW |
12 |
116,195,404 (GRCm39) |
splice site |
probably benign |
|
R1663:Dync2i1
|
UTSW |
12 |
116,193,230 (GRCm39) |
missense |
probably benign |
0.01 |
R1678:Dync2i1
|
UTSW |
12 |
116,189,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Dync2i1
|
UTSW |
12 |
116,219,532 (GRCm39) |
missense |
probably benign |
|
R1755:Dync2i1
|
UTSW |
12 |
116,189,649 (GRCm39) |
missense |
probably damaging |
0.98 |
R1832:Dync2i1
|
UTSW |
12 |
116,171,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R1918:Dync2i1
|
UTSW |
12 |
116,196,221 (GRCm39) |
missense |
probably damaging |
0.96 |
R2291:Dync2i1
|
UTSW |
12 |
116,193,191 (GRCm39) |
splice site |
probably null |
|
R2444:Dync2i1
|
UTSW |
12 |
116,196,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3419:Dync2i1
|
UTSW |
12 |
116,188,597 (GRCm39) |
missense |
probably benign |
0.05 |
R3699:Dync2i1
|
UTSW |
12 |
116,175,462 (GRCm39) |
nonsense |
probably null |
|
R3700:Dync2i1
|
UTSW |
12 |
116,175,462 (GRCm39) |
nonsense |
probably null |
|
R4445:Dync2i1
|
UTSW |
12 |
116,171,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Dync2i1
|
UTSW |
12 |
116,219,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R4954:Dync2i1
|
UTSW |
12 |
116,219,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Dync2i1
|
UTSW |
12 |
116,177,033 (GRCm39) |
missense |
probably benign |
0.43 |
R5163:Dync2i1
|
UTSW |
12 |
116,219,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5341:Dync2i1
|
UTSW |
12 |
116,219,534 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5560:Dync2i1
|
UTSW |
12 |
116,181,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R5870:Dync2i1
|
UTSW |
12 |
116,219,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5925:Dync2i1
|
UTSW |
12 |
116,197,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6223:Dync2i1
|
UTSW |
12 |
116,221,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6450:Dync2i1
|
UTSW |
12 |
116,210,347 (GRCm39) |
nonsense |
probably null |
|
R6462:Dync2i1
|
UTSW |
12 |
116,193,251 (GRCm39) |
missense |
probably benign |
|
R6751:Dync2i1
|
UTSW |
12 |
116,177,076 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6896:Dync2i1
|
UTSW |
12 |
116,193,291 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6962:Dync2i1
|
UTSW |
12 |
116,175,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Dync2i1
|
UTSW |
12 |
116,175,511 (GRCm39) |
missense |
probably benign |
0.03 |
R7042:Dync2i1
|
UTSW |
12 |
116,218,061 (GRCm39) |
missense |
probably benign |
0.02 |
R7254:Dync2i1
|
UTSW |
12 |
116,226,205 (GRCm39) |
intron |
probably benign |
|
R7567:Dync2i1
|
UTSW |
12 |
116,218,130 (GRCm39) |
splice site |
probably null |
|
R7889:Dync2i1
|
UTSW |
12 |
116,219,559 (GRCm39) |
nonsense |
probably null |
|
R8082:Dync2i1
|
UTSW |
12 |
116,177,127 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8288:Dync2i1
|
UTSW |
12 |
116,177,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Dync2i1
|
UTSW |
12 |
116,219,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Dync2i1
|
UTSW |
12 |
116,188,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Dync2i1
|
UTSW |
12 |
116,193,262 (GRCm39) |
missense |
probably benign |
0.03 |
R8699:Dync2i1
|
UTSW |
12 |
116,171,321 (GRCm39) |
missense |
probably benign |
0.01 |
R8782:Dync2i1
|
UTSW |
12 |
116,205,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R8809:Dync2i1
|
UTSW |
12 |
116,193,234 (GRCm39) |
missense |
probably damaging |
0.98 |
R9281:Dync2i1
|
UTSW |
12 |
116,211,677 (GRCm39) |
nonsense |
probably null |
|
R9530:Dync2i1
|
UTSW |
12 |
116,175,411 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9751:Dync2i1
|
UTSW |
12 |
116,205,403 (GRCm39) |
critical splice acceptor site |
probably null |
|
V7581:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
V7582:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
V7583:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
X0063:Dync2i1
|
UTSW |
12 |
116,219,489 (GRCm39) |
missense |
probably benign |
|
Z1177:Dync2i1
|
UTSW |
12 |
116,209,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCACCTTGTACACAAAAGGGTG -3'
(R):5'- GACCACAGGTGAGGTTTTGC -3'
Sequencing Primer
(F):5'- GCAGGAGATTGCTTGCCTAATACTC -3'
(R):5'- CCCCCAGAGTAAGTAGGATAATG -3'
|
Posted On |
2018-04-27 |