Incidental Mutation 'R6896:Dync2i1'
ID |
538351 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
044990-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6896 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 116193291 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Arginine
at position 554
(G554R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
AlphaFold |
Q8C761 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039349
AA Change: G554R
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: G554R
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
Validation Efficiency |
98% (49/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg2 |
T |
C |
6: 58,660,298 (GRCm39) |
L454P |
probably damaging |
Het |
Acadm |
T |
C |
3: 153,641,957 (GRCm39) |
I192V |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,045,375 (GRCm39) |
Y436N |
probably benign |
Het |
Ache |
G |
A |
5: 137,289,996 (GRCm39) |
V442M |
probably damaging |
Het |
Adam39 |
A |
T |
8: 41,277,975 (GRCm39) |
N122I |
possibly damaging |
Het |
Akap6 |
A |
T |
12: 52,934,277 (GRCm39) |
I590F |
probably benign |
Het |
Akap8 |
T |
C |
17: 32,536,305 (GRCm39) |
N36S |
probably benign |
Het |
Asap2 |
T |
C |
12: 21,315,526 (GRCm39) |
S933P |
probably damaging |
Het |
C3 |
C |
T |
17: 57,527,864 (GRCm39) |
|
probably null |
Het |
Cdon |
T |
A |
9: 35,363,402 (GRCm39) |
M1K |
probably null |
Het |
Cemip |
T |
A |
7: 83,647,784 (GRCm39) |
I99F |
probably damaging |
Het |
Cfap251 |
A |
G |
5: 123,416,421 (GRCm39) |
T565A |
possibly damaging |
Het |
Cfap58 |
T |
G |
19: 47,932,626 (GRCm39) |
L130R |
probably damaging |
Het |
Clca3a2 |
T |
C |
3: 144,514,462 (GRCm39) |
D415G |
probably damaging |
Het |
Coch |
A |
G |
12: 51,649,652 (GRCm39) |
D321G |
possibly damaging |
Het |
Efcab11 |
A |
G |
12: 99,849,674 (GRCm39) |
|
probably benign |
Het |
Ermap |
G |
T |
4: 119,044,328 (GRCm39) |
S156* |
probably null |
Het |
Fap |
G |
T |
2: 62,334,944 (GRCm39) |
Y620* |
probably null |
Het |
Galntl5 |
T |
C |
5: 25,394,947 (GRCm39) |
|
probably null |
Het |
Il21r |
C |
A |
7: 125,226,128 (GRCm39) |
H76N |
probably damaging |
Het |
Itpr1 |
T |
G |
6: 108,458,355 (GRCm39) |
Y2041D |
probably damaging |
Het |
Megf8 |
T |
A |
7: 25,029,357 (GRCm39) |
N300K |
probably benign |
Het |
Muc2 |
G |
A |
7: 141,306,432 (GRCm39) |
V285I |
possibly damaging |
Het |
Myh15 |
A |
T |
16: 48,933,434 (GRCm39) |
Q623L |
probably benign |
Het |
Myh7b |
T |
C |
2: 155,464,488 (GRCm39) |
|
probably null |
Het |
Naaladl1 |
T |
A |
19: 6,159,335 (GRCm39) |
|
probably null |
Het |
Nlrp9b |
T |
G |
7: 19,757,170 (GRCm39) |
F136V |
probably damaging |
Het |
Oprd1 |
A |
T |
4: 131,844,612 (GRCm39) |
M132K |
probably damaging |
Het |
Or10a3b |
T |
C |
7: 108,444,750 (GRCm39) |
T156A |
probably benign |
Het |
Or4s2b |
A |
G |
2: 88,508,340 (GRCm39) |
N47S |
probably damaging |
Het |
Or6c70 |
A |
T |
10: 129,710,623 (GRCm39) |
M1K |
probably null |
Het |
Or9g4 |
A |
G |
2: 85,505,277 (GRCm39) |
Y73H |
probably damaging |
Het |
Patj |
T |
A |
4: 98,314,287 (GRCm39) |
V369D |
possibly damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,434,265 (GRCm39) |
L77P |
probably damaging |
Het |
Pcf11 |
T |
C |
7: 92,298,759 (GRCm39) |
D1259G |
probably damaging |
Het |
Pdcl |
A |
T |
2: 37,242,191 (GRCm39) |
H186Q |
probably damaging |
Het |
Pdzd9 |
A |
T |
7: 120,262,095 (GRCm39) |
*77R |
probably null |
Het |
Reln |
C |
T |
5: 22,104,177 (GRCm39) |
E3265K |
probably benign |
Het |
Smg8 |
T |
C |
11: 86,968,787 (GRCm39) |
T990A |
possibly damaging |
Het |
Smok2a |
C |
T |
17: 13,444,758 (GRCm39) |
H112Y |
probably benign |
Het |
Spatc1l |
G |
A |
10: 76,405,242 (GRCm39) |
R208H |
probably damaging |
Het |
Taf7 |
T |
C |
18: 37,775,733 (GRCm39) |
D278G |
possibly damaging |
Het |
Vipas39 |
T |
C |
12: 87,289,345 (GRCm39) |
N373S |
probably benign |
Het |
Vmn2r78 |
C |
T |
7: 86,571,558 (GRCm39) |
T456I |
probably benign |
Het |
Vwf |
T |
C |
6: 125,543,157 (GRCm39) |
S148P |
probably damaging |
Het |
Xpot |
A |
C |
10: 121,449,390 (GRCm39) |
|
probably null |
Het |
Zdbf2 |
A |
T |
1: 63,348,031 (GRCm39) |
R2137W |
probably damaging |
Het |
Zfp462 |
T |
A |
4: 55,009,544 (GRCm39) |
N503K |
possibly damaging |
Het |
Zfp641 |
T |
A |
15: 98,191,684 (GRCm39) |
M1L |
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 |
|
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 |
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'- AATTCTGCAGGCATTGAGTGTTTC -3'
(R):5'- AGAAGTATGGCTTACCTTGGG -3'
Sequencing Primer
(F):5'- CAGAAAAAAAACCTCTTACTCTG -3'
(R):5'- CATCTGTGAACCATATGTGTGC -3'
|
Posted On |
2018-11-06 |