Incidental Mutation 'R4445:Dync2i1'
ID |
329854 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
041151-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4445 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 116171335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 967
(A967V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
AlphaFold |
Q8C761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039349
AA Change: A967V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: A967V
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: ENSMUST00000222764
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg6 |
A |
G |
10: 14,285,507 (GRCm39) |
S1160P |
probably damaging |
Het |
Adgrl1 |
T |
C |
8: 84,661,489 (GRCm39) |
L962P |
probably damaging |
Het |
Arl6 |
A |
T |
16: 59,444,676 (GRCm39) |
I51K |
probably damaging |
Het |
Calcoco1 |
A |
G |
15: 102,624,175 (GRCm39) |
|
probably null |
Het |
Cd59a |
A |
G |
2: 103,941,163 (GRCm39) |
Q47R |
probably benign |
Het |
Cdkl2 |
G |
A |
5: 92,168,168 (GRCm39) |
T342I |
probably benign |
Het |
Cfap45 |
G |
A |
1: 172,362,794 (GRCm39) |
V262M |
probably benign |
Het |
Chd8 |
A |
T |
14: 52,441,984 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
C |
T |
6: 46,736,785 (GRCm39) |
T737I |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,281,672 (GRCm39) |
D2837G |
unknown |
Het |
Crot |
T |
C |
5: 9,023,643 (GRCm39) |
H415R |
probably damaging |
Het |
Cyp17a1 |
A |
G |
19: 46,656,462 (GRCm39) |
F411L |
probably damaging |
Het |
Cyp4a12a |
G |
A |
4: 115,183,980 (GRCm39) |
|
probably null |
Het |
Cysltr2 |
G |
A |
14: 73,267,333 (GRCm39) |
H126Y |
possibly damaging |
Het |
Ddx56 |
A |
T |
11: 6,215,770 (GRCm39) |
|
probably null |
Het |
Elmod1 |
T |
A |
9: 53,841,413 (GRCm39) |
D93V |
probably damaging |
Het |
Epb41l2 |
T |
C |
10: 25,319,701 (GRCm39) |
L178P |
possibly damaging |
Het |
Flacc1 |
A |
T |
1: 58,706,080 (GRCm39) |
I263K |
possibly damaging |
Het |
Galnt10 |
T |
A |
11: 57,674,517 (GRCm39) |
V502D |
probably damaging |
Het |
Gm11735 |
T |
C |
11: 116,629,888 (GRCm39) |
|
noncoding transcript |
Het |
H4c12 |
T |
C |
13: 21,934,513 (GRCm39) |
T55A |
possibly damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Igsf9b |
A |
G |
9: 27,245,548 (GRCm39) |
T1172A |
probably benign |
Het |
Ip6k3 |
A |
G |
17: 27,364,076 (GRCm39) |
I324T |
probably benign |
Het |
Klkb1 |
C |
T |
8: 45,730,092 (GRCm39) |
S263N |
probably benign |
Het |
Lrit3 |
A |
T |
3: 129,582,180 (GRCm39) |
C602* |
probably null |
Het |
Lyst |
T |
C |
13: 13,884,149 (GRCm39) |
S2986P |
probably benign |
Het |
Mapkapk5 |
T |
C |
5: 121,663,291 (GRCm39) |
T445A |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,952,372 (GRCm39) |
M119K |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,715,611 (GRCm39) |
D63G |
probably damaging |
Het |
Nscme3l |
A |
T |
19: 5,553,022 (GRCm39) |
V253D |
probably damaging |
Het |
Nsun2 |
G |
A |
13: 69,777,840 (GRCm39) |
|
probably null |
Het |
Or13a24 |
C |
A |
7: 140,154,302 (GRCm39) |
P79T |
probably damaging |
Het |
Or1ak2 |
T |
G |
2: 36,827,563 (GRCm39) |
L144R |
probably damaging |
Het |
Or2ag1b |
T |
A |
7: 106,288,353 (GRCm39) |
Y195F |
possibly damaging |
Het |
Or51t4 |
T |
C |
7: 102,598,005 (GRCm39) |
L101P |
possibly damaging |
Het |
Pabpc2 |
T |
C |
18: 39,907,253 (GRCm39) |
F173L |
probably damaging |
Het |
Rngtt |
A |
G |
4: 33,499,035 (GRCm39) |
I531V |
probably benign |
Het |
Sacs |
A |
G |
14: 61,442,135 (GRCm39) |
M1394V |
probably benign |
Het |
Setd1b |
G |
T |
5: 123,286,167 (GRCm39) |
E404D |
unknown |
Het |
Slc25a54 |
G |
A |
3: 109,005,984 (GRCm39) |
R164H |
probably benign |
Het |
Slc2a13 |
A |
G |
15: 91,234,223 (GRCm39) |
V371A |
possibly damaging |
Het |
Spag9 |
C |
G |
11: 93,988,079 (GRCm39) |
L798V |
possibly damaging |
Het |
Tbce |
A |
T |
13: 14,172,980 (GRCm39) |
S484T |
possibly damaging |
Het |
Tcf12 |
C |
T |
9: 71,776,345 (GRCm39) |
R399Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,615,177 (GRCm39) |
V16847A |
probably benign |
Het |
Ttn |
A |
G |
2: 76,687,210 (GRCm39) |
|
probably benign |
Het |
Vmn1r11 |
T |
G |
6: 57,114,515 (GRCm39) |
L23V |
probably benign |
Het |
Vmn2r59 |
C |
T |
7: 41,691,874 (GRCm39) |
C541Y |
probably damaging |
Het |
Vmn2r82 |
A |
C |
10: 79,214,874 (GRCm39) |
T286P |
possibly damaging |
Het |
Vps13c |
T |
G |
9: 67,889,777 (GRCm39) |
|
probably null |
Het |
Ypel1 |
A |
T |
16: 16,921,464 (GRCm39) |
Y73* |
probably null |
Het |
Zdhhc6 |
T |
C |
19: 55,291,169 (GRCm39) |
I349V |
probably benign |
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 |
|
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'- CATGAACACAGAGTTAAGGGATCC -3'
(R):5'- TTTCATGGATCTGCCCAGACC -3'
Sequencing Primer
(F):5'- GGGATCCATCTGTAATCAAGTCTC -3'
(R):5'- GCTGGCCTTGAACTCAGAAATCTG -3'
|
Posted On |
2015-07-21 |