Incidental Mutation 'R3700:Dync2i1'
ID |
269968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
040693-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3700 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 116175462 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Stop codon
at position 905
(W905*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
AlphaFold |
Q8C761 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039349
AA Change: W905*
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: W905*
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: ENSMUST00000221748
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222539
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222764
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
98% (51/52) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
G |
A |
18: 65,438,222 (GRCm39) |
T1524I |
probably damaging |
Het |
Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
Arhgap26 |
T |
A |
18: 39,253,237 (GRCm39) |
F221L |
probably damaging |
Het |
Arhgap28 |
T |
C |
17: 68,208,361 (GRCm39) |
S36G |
probably damaging |
Het |
Bcl11a |
A |
G |
11: 24,113,890 (GRCm39) |
D411G |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,163,149 (GRCm39) |
|
probably null |
Het |
Cnnm2 |
T |
A |
19: 46,750,990 (GRCm39) |
I260N |
probably damaging |
Het |
Coro6 |
T |
C |
11: 77,358,129 (GRCm39) |
F238S |
probably damaging |
Het |
Ddah1 |
G |
A |
3: 145,597,250 (GRCm39) |
M162I |
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,387,937 (GRCm39) |
I3132T |
possibly damaging |
Het |
Drgx |
A |
T |
14: 32,350,818 (GRCm39) |
E218V |
probably damaging |
Het |
Eif3f |
A |
T |
7: 108,539,482 (GRCm39) |
I251F |
probably benign |
Het |
Ephx4 |
T |
C |
5: 107,550,673 (GRCm39) |
F11L |
probably benign |
Het |
Esp1 |
T |
C |
17: 41,041,998 (GRCm39) |
S97P |
unknown |
Het |
Fbxw10 |
A |
T |
11: 62,759,983 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
T |
C |
17: 45,882,440 (GRCm39) |
T85A |
possibly damaging |
Het |
Idh2 |
T |
C |
7: 79,748,895 (GRCm39) |
K129E |
probably damaging |
Het |
Kcnj6 |
A |
G |
16: 94,633,865 (GRCm39) |
I64T |
probably damaging |
Het |
Klk1b5 |
T |
A |
7: 43,500,251 (GRCm39) |
C280S |
probably damaging |
Het |
Lhx2 |
T |
A |
2: 38,250,111 (GRCm39) |
L269H |
probably damaging |
Het |
Lrrc71 |
T |
A |
3: 87,653,185 (GRCm39) |
|
probably null |
Het |
Lss |
T |
A |
10: 76,382,026 (GRCm39) |
L484Q |
probably damaging |
Het |
Mmp14 |
G |
A |
14: 54,669,389 (GRCm39) |
|
probably benign |
Het |
Muc5b |
A |
G |
7: 141,400,986 (GRCm39) |
T534A |
unknown |
Het |
Mysm1 |
T |
C |
4: 94,858,889 (GRCm39) |
K87E |
probably benign |
Het |
Or6d13 |
T |
A |
6: 116,517,489 (GRCm39) |
V25E |
probably benign |
Het |
Or6f2 |
C |
G |
7: 139,756,127 (GRCm39) |
F37L |
possibly damaging |
Het |
Pcolce |
T |
C |
5: 137,607,309 (GRCm39) |
T61A |
probably damaging |
Het |
Phc3 |
C |
A |
3: 30,968,277 (GRCm39) |
D920Y |
probably damaging |
Het |
Pi4kb |
T |
C |
3: 94,901,599 (GRCm39) |
I422T |
probably benign |
Het |
Piezo1 |
C |
T |
8: 123,221,642 (GRCm39) |
R584H |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,693,781 (GRCm39) |
F768Y |
probably damaging |
Het |
Ppp1r21 |
T |
C |
17: 88,889,882 (GRCm39) |
S709P |
possibly damaging |
Het |
Prdx6 |
T |
C |
1: 161,074,858 (GRCm39) |
D74G |
probably damaging |
Het |
Rlf |
A |
G |
4: 121,008,060 (GRCm39) |
F307L |
possibly damaging |
Het |
Skic2 |
T |
C |
17: 35,068,879 (GRCm39) |
E40G |
probably benign |
Het |
Snapin |
G |
A |
3: 90,397,499 (GRCm39) |
R91* |
probably null |
Het |
Sort1 |
T |
A |
3: 108,263,955 (GRCm39) |
L838* |
probably null |
Het |
Sstr4 |
A |
G |
2: 148,238,273 (GRCm39) |
I295V |
possibly damaging |
Het |
Stk39 |
T |
A |
2: 68,222,462 (GRCm39) |
I201F |
probably damaging |
Het |
Tasp1 |
T |
C |
2: 139,752,474 (GRCm39) |
T322A |
probably benign |
Het |
Tepsin |
C |
T |
11: 119,982,579 (GRCm39) |
C491Y |
possibly damaging |
Het |
Tlr9 |
G |
A |
9: 106,101,278 (GRCm39) |
V190M |
probably damaging |
Het |
Ttf2 |
A |
G |
3: 100,858,324 (GRCm39) |
L755P |
probably damaging |
Het |
Txn2 |
G |
A |
15: 77,811,976 (GRCm39) |
T60M |
possibly damaging |
Het |
Vmn1r10 |
A |
G |
6: 57,091,287 (GRCm39) |
N293S |
probably benign |
Het |
Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
Vmn2r111 |
C |
T |
17: 22,790,142 (GRCm39) |
W288* |
probably null |
Het |
Vmn2r118 |
T |
C |
17: 55,915,421 (GRCm39) |
S510G |
possibly damaging |
Het |
Zgpat |
T |
A |
2: 181,007,439 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
G |
T |
11: 72,777,598 (GRCm39) |
G1810C |
probably null |
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 |
|
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 |
R6364:Dync2i1
|
UTSW |
12 |
116,205,352 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GGTCCAAGTACATATAGGACCTCTG -3'
(R):5'- GCTCTGAAAACTTCTCCTGGG -3'
Sequencing Primer
(F):5'- ACATATAGGACCTCTGTGTATGTTTG -3'
(R):5'- CTCTGAAAACTTCTCCTGGGTGTTAG -3'
|
Posted On |
2015-03-18 |