Incidental Mutation 'R7889:Dync2i1'
ID |
609228 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
045941-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7889 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 116219559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 128
(K128*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
[ENSMUST00000222679]
|
AlphaFold |
Q8C761 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039349
AA Change: K128*
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: K128*
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 |
probably benign
Transcript: ENSMUST00000222679
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (61/61) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg2a |
A |
G |
3: 37,632,959 (GRCm39) |
D855G |
probably benign |
Het |
Angptl3 |
C |
T |
4: 98,919,308 (GRCm39) |
L23F |
probably benign |
Het |
Art2a |
C |
T |
7: 101,204,418 (GRCm39) |
S40N |
not run |
Het |
Ash1l |
A |
G |
3: 88,873,345 (GRCm39) |
T43A |
probably benign |
Het |
Atp1a2 |
G |
A |
1: 172,105,631 (GRCm39) |
|
probably null |
Het |
Azi2 |
A |
G |
9: 117,890,983 (GRCm39) |
E336G |
probably benign |
Het |
Cap2 |
A |
G |
13: 46,800,051 (GRCm39) |
H419R |
probably damaging |
Het |
Ccdc14 |
T |
A |
16: 34,544,206 (GRCm39) |
S903T |
probably damaging |
Het |
Cep72 |
A |
T |
13: 74,198,241 (GRCm39) |
S380T |
possibly damaging |
Het |
Clca3a2 |
C |
A |
3: 144,516,574 (GRCm39) |
E341* |
probably null |
Het |
Clcnkb |
T |
G |
4: 141,137,915 (GRCm39) |
I294L |
probably benign |
Het |
Csnk2a1-ps3 |
G |
A |
1: 156,352,965 (GRCm39) |
A389T |
probably benign |
Het |
Cyp2d9 |
T |
A |
15: 82,340,027 (GRCm39) |
M350K |
probably damaging |
Het |
Dhx40 |
T |
G |
11: 86,689,793 (GRCm39) |
I266L |
probably benign |
Het |
Dnah5 |
G |
T |
15: 28,448,560 (GRCm39) |
E4208* |
probably null |
Het |
Ephb2 |
T |
C |
4: 136,498,353 (GRCm39) |
N242S |
probably damaging |
Het |
Fam13b |
A |
T |
18: 34,590,744 (GRCm39) |
F478Y |
probably benign |
Het |
Fastkd2 |
C |
G |
1: 63,774,619 (GRCm39) |
|
probably null |
Het |
Fbxo40 |
T |
A |
16: 36,790,012 (GRCm39) |
D366V |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 24,903,551 (GRCm39) |
K95M |
probably damaging |
Het |
Foxo3 |
T |
A |
10: 42,151,023 (GRCm39) |
Q136L |
probably benign |
Het |
Gadl1 |
A |
T |
9: 115,783,883 (GRCm39) |
Q236L |
possibly damaging |
Het |
Galnt13 |
A |
G |
2: 55,002,873 (GRCm39) |
D560G |
probably benign |
Het |
Ghsr |
A |
G |
3: 27,426,315 (GRCm39) |
S124G |
probably benign |
Het |
Gkn2 |
A |
G |
6: 87,355,268 (GRCm39) |
|
probably null |
Het |
Glyctk |
T |
A |
9: 106,033,638 (GRCm39) |
R68W |
unknown |
Het |
Gm5157 |
G |
A |
7: 20,918,641 (GRCm39) |
P301S |
unknown |
Het |
Hdc |
A |
T |
2: 126,458,130 (GRCm39) |
I64N |
probably damaging |
Het |
Helq |
A |
T |
5: 100,940,427 (GRCm39) |
|
probably null |
Het |
Ighv1-43 |
T |
C |
12: 114,909,583 (GRCm39) |
Y113C |
probably damaging |
Het |
Ipo9 |
T |
C |
1: 135,334,591 (GRCm39) |
T273A |
probably benign |
Het |
Itga4 |
G |
A |
2: 79,146,389 (GRCm39) |
V774I |
probably benign |
Het |
Itpr3 |
T |
C |
17: 27,335,751 (GRCm39) |
L2287P |
probably damaging |
Het |
Llgl1 |
T |
A |
11: 60,598,138 (GRCm39) |
I394N |
probably damaging |
Het |
Mta1 |
G |
A |
12: 113,095,308 (GRCm39) |
R487H |
probably benign |
Het |
Neb |
T |
C |
2: 52,037,681 (GRCm39) |
D7049G |
probably benign |
Het |
Nlrp4f |
G |
A |
13: 65,342,832 (GRCm39) |
S271F |
probably damaging |
Het |
Noxo1 |
A |
G |
17: 24,918,356 (GRCm39) |
D172G |
probably damaging |
Het |
Nup155 |
T |
A |
15: 8,150,991 (GRCm39) |
V347E |
probably damaging |
Het |
Oaf |
G |
T |
9: 43,133,968 (GRCm39) |
A251E |
possibly damaging |
Het |
Pds5b |
T |
A |
5: 150,715,637 (GRCm39) |
F1039I |
probably damaging |
Het |
Pla2g12b |
T |
A |
10: 59,257,062 (GRCm39) |
|
probably null |
Het |
Prmt3 |
A |
G |
7: 49,437,049 (GRCm39) |
D208G |
possibly damaging |
Het |
Ptcd3 |
G |
A |
6: 71,865,592 (GRCm39) |
T441M |
probably damaging |
Het |
Rabl6 |
A |
G |
2: 25,474,786 (GRCm39) |
|
probably null |
Het |
Shtn1 |
T |
A |
19: 58,992,328 (GRCm39) |
I417F |
probably damaging |
Het |
Slc20a2 |
T |
C |
8: 23,030,417 (GRCm39) |
S158P |
probably damaging |
Het |
Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
Spef2 |
T |
C |
15: 9,717,649 (GRCm39) |
Y232C |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,534,942 (GRCm39) |
T3733I |
probably benign |
Het |
Thrap3 |
A |
T |
4: 126,071,855 (GRCm39) |
F512L |
probably benign |
Het |
Tmem150c |
A |
T |
5: 100,240,963 (GRCm39) |
I30K |
probably damaging |
Het |
Tnnt1 |
C |
T |
7: 4,511,582 (GRCm39) |
A168T |
probably damaging |
Het |
Trak2 |
A |
G |
1: 58,957,983 (GRCm39) |
L308P |
probably damaging |
Het |
Trp53i11 |
T |
C |
2: 93,029,244 (GRCm39) |
L81P |
probably damaging |
Het |
Usp16 |
T |
C |
16: 87,271,472 (GRCm39) |
Y344H |
probably benign |
Het |
Vinac1 |
T |
C |
2: 128,878,914 (GRCm39) |
E1004G |
unknown |
Het |
Xrcc5 |
G |
T |
1: 72,395,985 (GRCm39) |
V593L |
probably benign |
Het |
Zcchc14 |
A |
T |
8: 122,331,634 (GRCm39) |
H576Q |
unknown |
Het |
Zfp616 |
T |
A |
11: 73,976,271 (GRCm39) |
C847S |
probably damaging |
Het |
Zfp626 |
A |
T |
7: 27,518,924 (GRCm39) |
Y635F |
probably benign |
Het |
Zfp799 |
G |
A |
17: 33,038,473 (GRCm39) |
R598* |
probably null |
Het |
Zfp831 |
A |
G |
2: 174,487,097 (GRCm39) |
K591E |
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 |
|
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'- AGACATTCACACAGGAGCGC -3'
(R):5'- AGAGAGACCTGTACACCTCC -3'
Sequencing Primer
(F):5'- GCACATTAGTCAATCAACTGAGC -3'
(R):5'- TCCACAGAACATCCTCGTGGG -3'
|
Posted On |
2019-12-20 |