Incidental Mutation 'R2291:Dync2i1'
| ID |
244376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
040290-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
splice site (10 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 116193191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039349
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
| 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: ENSMUST00000222764
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,207,450 (GRCm39) |
I247N |
probably damaging |
Het |
| Afdn |
A |
G |
17: 14,109,153 (GRCm39) |
K1559E |
probably damaging |
Het |
| Ankhd1 |
C |
T |
18: 36,777,386 (GRCm39) |
T1523I |
probably benign |
Het |
| Apc |
T |
A |
18: 34,445,544 (GRCm39) |
N795K |
probably benign |
Het |
| Arhgap26 |
G |
T |
18: 39,490,751 (GRCm39) |
|
probably benign |
Het |
| Atm |
C |
T |
9: 53,402,209 (GRCm39) |
|
probably null |
Het |
| Atp1a4 |
T |
C |
1: 172,072,473 (GRCm39) |
N394D |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,776,812 (GRCm39) |
S420T |
possibly damaging |
Het |
| Cacna1d |
G |
T |
14: 29,764,299 (GRCm39) |
R2078S |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
| Camk2a |
T |
A |
18: 61,097,031 (GRCm39) |
V38E |
probably damaging |
Het |
| Camk4 |
G |
A |
18: 33,240,996 (GRCm39) |
|
probably null |
Het |
| Ccr7 |
G |
A |
11: 99,036,161 (GRCm39) |
R254C |
probably damaging |
Het |
| Celf5 |
C |
T |
10: 81,302,881 (GRCm39) |
G267D |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,965,634 (GRCm39) |
P459S |
probably damaging |
Het |
| Chd1l |
T |
C |
3: 97,498,599 (GRCm39) |
K267E |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,692,354 (GRCm39) |
Y331N |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,624,448 (GRCm39) |
T158I |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,960,833 (GRCm39) |
D430E |
unknown |
Het |
| Cspg4 |
T |
C |
9: 56,800,027 (GRCm39) |
V1597A |
probably damaging |
Het |
| Cstf2t |
T |
A |
19: 31,062,264 (GRCm39) |
L600H |
probably benign |
Het |
| Cyp27b1 |
T |
C |
10: 126,884,163 (GRCm39) |
V5A |
possibly damaging |
Het |
| Depdc5 |
C |
A |
5: 33,136,746 (GRCm39) |
Q1339K |
probably damaging |
Het |
| Diaph3 |
G |
T |
14: 87,203,882 (GRCm39) |
P592Q |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,660,658 (GRCm39) |
M687V |
probably damaging |
Het |
| Fhod1 |
T |
A |
8: 106,063,596 (GRCm39) |
|
probably benign |
Het |
| Gls2 |
C |
A |
10: 128,043,479 (GRCm39) |
S73* |
probably null |
Het |
| Gm3604 |
T |
A |
13: 62,519,657 (GRCm39) |
M33L |
probably damaging |
Het |
| Gpr39 |
A |
G |
1: 125,605,278 (GRCm39) |
T69A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,339,398 (GRCm39) |
F496L |
probably damaging |
Het |
| Hipk1 |
T |
C |
3: 103,668,926 (GRCm39) |
E490G |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,338,315 (GRCm39) |
|
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,332,553 (GRCm39) |
E1799G |
possibly damaging |
Het |
| Kif11 |
T |
A |
19: 37,395,451 (GRCm39) |
M570K |
probably benign |
Het |
| Kif18b |
G |
T |
11: 102,799,096 (GRCm39) |
Q702K |
probably damaging |
Het |
| Kif19a |
A |
G |
11: 114,681,019 (GRCm39) |
T247A |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,658,136 (GRCm39) |
E360G |
probably damaging |
Het |
| Loxl3 |
G |
T |
6: 83,014,469 (GRCm39) |
A126S |
probably benign |
Het |
| Mc5r |
C |
T |
18: 68,472,435 (GRCm39) |
R265W |
probably damaging |
Het |
| Mpl |
A |
G |
4: 118,306,197 (GRCm39) |
V340A |
probably benign |
Het |
| Mrpl13 |
G |
T |
15: 55,411,615 (GRCm39) |
H56Q |
probably damaging |
Het |
| Msr1 |
T |
C |
8: 40,077,263 (GRCm39) |
T116A |
probably benign |
Het |
| N4bp3 |
T |
C |
11: 51,536,930 (GRCm39) |
K48E |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,225 (GRCm39) |
T104A |
probably benign |
Het |
| Neu1 |
C |
T |
17: 35,151,742 (GRCm39) |
R179W |
probably damaging |
Het |
| Or10d5 |
T |
C |
9: 39,861,630 (GRCm39) |
T146A |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,524 (GRCm39) |
Y35* |
probably null |
Het |
| Osbp |
G |
T |
19: 11,951,198 (GRCm39) |
E248* |
probably null |
Het |
| Otx1 |
T |
A |
11: 21,946,634 (GRCm39) |
|
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,851,274 (GRCm39) |
Q759L |
probably damaging |
Het |
| Pax6 |
A |
C |
2: 105,516,228 (GRCm39) |
S169R |
probably benign |
Het |
| Pigg |
T |
G |
5: 108,480,783 (GRCm39) |
I389M |
probably damaging |
Het |
| Pla2g4a |
C |
A |
1: 149,776,940 (GRCm39) |
V59F |
probably damaging |
Het |
| Plcb4 |
A |
T |
2: 135,781,903 (GRCm39) |
Q241H |
probably benign |
Het |
| Plpp6 |
A |
G |
19: 28,941,720 (GRCm39) |
D107G |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,159,690 (GRCm39) |
L459Q |
probably damaging |
Het |
| Prss55 |
A |
T |
14: 64,313,171 (GRCm39) |
W238R |
probably damaging |
Het |
| Rgl1 |
C |
T |
1: 152,412,032 (GRCm39) |
E446K |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,638,090 (GRCm39) |
G221D |
probably damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,129 (GRCm39) |
F83S |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,798,202 (GRCm39) |
V947M |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,119,312 (GRCm39) |
L1397P |
probably benign |
Het |
| Sh3bp1 |
T |
A |
15: 78,802,519 (GRCm39) |
V251E |
possibly damaging |
Het |
| Slc25a10 |
A |
T |
11: 120,387,900 (GRCm39) |
I198L |
probably benign |
Het |
| Smoc2 |
A |
T |
17: 14,589,233 (GRCm39) |
N234I |
possibly damaging |
Het |
| Spdl1 |
T |
A |
11: 34,710,136 (GRCm39) |
K382* |
probably null |
Het |
| Ssrp1 |
G |
A |
2: 84,872,660 (GRCm39) |
|
probably null |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Triqk |
T |
A |
4: 12,974,817 (GRCm39) |
|
probably null |
Het |
| Ttc19 |
T |
C |
11: 62,174,519 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,677 (GRCm39) |
S182P |
possibly damaging |
Het |
| Vmn1r226 |
A |
G |
17: 20,908,475 (GRCm39) |
I236V |
probably damaging |
Het |
| Vmn2r120 |
A |
C |
17: 57,816,479 (GRCm39) |
N625K |
probably damaging |
Het |
| Vmn2r78 |
T |
C |
7: 86,569,362 (GRCm39) |
I85T |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,241,519 (GRCm39) |
R277* |
probably null |
Het |
| Wnt7a |
C |
T |
6: 91,371,468 (GRCm39) |
V165I |
probably benign |
Het |
| Zbtb40 |
A |
T |
4: 136,712,328 (GRCm39) |
Y1127N |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,594,705 (GRCm39) |
H762Q |
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 |
|
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 |
|
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'- GCTGTCAGGTCTCTTCTAGTTAAG -3'
(R):5'- AGAAGTATGGCTTACCTTGGGG -3'
Sequencing Primer
(F):5'- CAATTCTGCAGGCATTGAG -3'
(R):5'- GGAGTGCTCTTCAGTACTGAACC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation