Incidental Mutation 'R9281:Dync2i1'
| ID |
703649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 116211677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 277
(R277*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039349
AA Change: R277*
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: R277*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,184 (GRCm39) |
I102M |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,205,687 (GRCm39) |
V444I |
possibly damaging |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Ano1 |
A |
T |
7: 144,149,318 (GRCm39) |
Y848N |
probably damaging |
Het |
| Arap2 |
C |
T |
5: 62,906,848 (GRCm39) |
R57H |
probably damaging |
Het |
| Atp10b |
C |
T |
11: 43,116,458 (GRCm39) |
T935I |
probably benign |
Het |
| Bcl11b |
A |
G |
12: 107,882,257 (GRCm39) |
L686P |
possibly damaging |
Het |
| Bmp5 |
T |
C |
9: 75,683,856 (GRCm39) |
V161A |
probably benign |
Het |
| C1qtnf3 |
A |
G |
15: 10,978,607 (GRCm39) |
E196G |
probably benign |
Het |
| Cacng8 |
T |
A |
7: 3,460,608 (GRCm39) |
F130L |
probably damaging |
Het |
| Cap1 |
A |
G |
4: 122,766,226 (GRCm39) |
M4T |
probably benign |
Het |
| Ccdc57 |
T |
C |
11: 120,751,413 (GRCm39) |
K886E |
probably benign |
Het |
| Cdhr2 |
A |
C |
13: 54,881,703 (GRCm39) |
T1112P |
possibly damaging |
Het |
| Clcn4 |
A |
T |
7: 7,294,813 (GRCm39) |
M316K |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,732,920 (GRCm39) |
D1099E |
unknown |
Het |
| Csmd3 |
A |
C |
15: 47,460,272 (GRCm39) |
N2595K |
|
Het |
| Ctdspl2 |
A |
G |
2: 121,841,063 (GRCm39) |
H451R |
probably benign |
Het |
| Cybrd1 |
A |
T |
2: 70,968,735 (GRCm39) |
T203S |
probably benign |
Het |
| Dhx29 |
A |
G |
13: 113,078,240 (GRCm39) |
N312S |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,929,983 (GRCm39) |
S38T |
probably benign |
Het |
| Ercc8 |
G |
T |
13: 108,320,364 (GRCm39) |
A317S |
probably benign |
Het |
| Fndc3a |
T |
C |
14: 72,799,097 (GRCm39) |
T629A |
probably benign |
Het |
| Frmpd1 |
G |
T |
4: 45,284,127 (GRCm39) |
A983S |
probably benign |
Het |
| Gm14325 |
T |
A |
2: 177,473,597 (GRCm39) |
Y495F |
probably damaging |
Het |
| Gm5773 |
A |
T |
3: 93,680,891 (GRCm39) |
T188S |
probably benign |
Het |
| Gpsm1 |
C |
A |
2: 26,214,488 (GRCm39) |
N243K |
probably damaging |
Het |
| Inpp4a |
C |
G |
1: 37,410,850 (GRCm39) |
H339Q |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,931,425 (GRCm39) |
D141G |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 117,995,728 (GRCm39) |
V1003A |
probably damaging |
Het |
| Lrrc25 |
T |
A |
8: 71,073,246 (GRCm39) |
M276K |
probably benign |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mcmdc2 |
G |
A |
1: 9,994,425 (GRCm39) |
G406D |
probably damaging |
Het |
| Mfhas1 |
G |
T |
8: 36,057,951 (GRCm39) |
A809S |
probably benign |
Het |
| Mier2 |
A |
T |
10: 79,378,294 (GRCm39) |
D376E |
probably benign |
Het |
| Mllt3 |
A |
C |
4: 87,707,566 (GRCm39) |
H464Q |
probably benign |
Het |
| Mtrex |
A |
T |
13: 113,046,443 (GRCm39) |
C302* |
probably null |
Het |
| Myo6 |
T |
A |
9: 80,162,164 (GRCm39) |
Y300* |
probably null |
Het |
| Myzap |
T |
C |
9: 71,493,482 (GRCm39) |
D31G |
unknown |
Het |
| Nfatc1 |
T |
C |
18: 80,741,190 (GRCm39) |
Y270C |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,152,961 (GRCm39) |
S434P |
probably benign |
Het |
| Or13p3 |
A |
G |
4: 118,566,592 (GRCm39) |
|
probably benign |
Het |
| Or1e26 |
T |
A |
11: 73,480,133 (GRCm39) |
M144L |
probably benign |
Het |
| Osbp2 |
T |
A |
11: 3,813,375 (GRCm39) |
T165S |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,300,313 (GRCm39) |
V1590A |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,495 (GRCm39) |
L180P |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,536,758 (GRCm39) |
D109N |
probably benign |
Het |
| Ptger3 |
A |
G |
3: 157,273,090 (GRCm39) |
M146V |
probably benign |
Het |
| Pts |
A |
G |
9: 50,433,853 (GRCm39) |
V96A |
probably damaging |
Het |
| Rab11fip5 |
T |
C |
6: 85,318,834 (GRCm39) |
E685G |
probably benign |
Het |
| Rab27a |
C |
T |
9: 72,992,278 (GRCm39) |
T102I |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,153,545 (GRCm39) |
L2253P |
probably damaging |
Het |
| Rock1 |
C |
T |
18: 10,080,479 (GRCm39) |
A1022T |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,363,259 (GRCm39) |
N259K |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,472,056 (GRCm39) |
Y604* |
probably null |
Het |
| Slc12a6 |
A |
G |
2: 112,164,754 (GRCm39) |
N151S |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,019,051 (GRCm39) |
D596V |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,891,051 (GRCm39) |
V140A |
probably benign |
Het |
| Spta1 |
T |
G |
1: 174,047,444 (GRCm39) |
V1696G |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,261,927 (GRCm39) |
D179E |
probably damaging |
Het |
| Stpg4 |
T |
C |
17: 87,702,671 (GRCm39) |
D182G |
probably benign |
Het |
| Synm |
A |
T |
7: 67,386,048 (GRCm39) |
L538* |
probably null |
Het |
| Tigar |
A |
T |
6: 127,068,157 (GRCm39) |
L87H |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,962 (GRCm39) |
V110F |
possibly damaging |
Het |
| Trav6n-5 |
T |
A |
14: 53,342,744 (GRCm39) |
L94* |
probably null |
Het |
| Ttf1 |
A |
G |
2: 28,955,902 (GRCm39) |
H422R |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,619,926 (GRCm39) |
V15914A |
probably damaging |
Het |
| Vmn2r13 |
C |
A |
5: 109,303,953 (GRCm39) |
C826F |
probably damaging |
Het |
| Wwc1 |
C |
G |
11: 35,780,211 (GRCm39) |
G248A |
probably benign |
Het |
| Zfp120 |
G |
A |
2: 149,959,615 (GRCm39) |
H258Y |
probably damaging |
Het |
| Zfp142 |
A |
G |
1: 74,607,731 (GRCm39) |
Y1681H |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,579,045 (GRCm39) |
L150P |
possibly damaging |
Het |
| Zscan4-ps1 |
G |
T |
7: 10,799,589 (GRCm39) |
F433L |
possibly 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 |
|
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 |
|
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'- TCGTCATGGCAACCAAAAGC -3'
(R):5'- ACTGGCTGTACAAGGAGGAC -3'
Sequencing Primer
(F):5'- CCAAAAGCGCTCAGGGTAGC -3'
(R):5'- CTGTACAAGGAGGACGGCGAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation