Incidental Mutation 'R9530:Dync2i1'
| ID |
719452 |
| 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 # |
R9530 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116175411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 922
(I922T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039349
AA Change: I922T
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: I922T
| 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: 99.2%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,274,165 (GRCm39) |
N96S |
possibly damaging |
Het |
| Acsl6 |
C |
T |
11: 54,220,783 (GRCm39) |
T301I |
probably damaging |
Het |
| Ankrd7 |
C |
A |
6: 18,868,258 (GRCm39) |
Q127K |
probably benign |
Het |
| Ap1s1 |
T |
C |
5: 137,064,612 (GRCm39) |
M155V |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,107,306 (GRCm39) |
C61W |
probably damaging |
Het |
| Atosb |
C |
T |
4: 43,034,753 (GRCm39) |
R322Q |
probably damaging |
Het |
| Ccng1 |
A |
G |
11: 40,644,885 (GRCm39) |
V4A |
probably benign |
Het |
| Cd163 |
G |
T |
6: 124,294,491 (GRCm39) |
E550* |
probably null |
Het |
| Cdh2 |
A |
G |
18: 16,783,466 (GRCm39) |
Y88H |
probably damaging |
Het |
| Cyp2c69 |
A |
G |
19: 39,848,311 (GRCm39) |
S304P |
possibly damaging |
Het |
| Erbb3 |
T |
C |
10: 128,410,291 (GRCm39) |
I656V |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,248,910 (GRCm39) |
I1363K |
probably damaging |
Het |
| Garre1 |
A |
G |
7: 33,963,069 (GRCm39) |
V201A |
probably benign |
Het |
| Heatr1 |
G |
A |
13: 12,439,607 (GRCm39) |
R1395H |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,126,382 (GRCm39) |
I578T |
probably benign |
Het |
| Herc6 |
T |
A |
6: 57,602,899 (GRCm39) |
L526* |
probably null |
Het |
| Ighv5-9 |
A |
G |
12: 113,625,677 (GRCm39) |
M22T |
probably benign |
Het |
| Klhl36 |
A |
G |
8: 120,591,808 (GRCm39) |
E17G |
possibly damaging |
Het |
| Mast2 |
A |
C |
4: 116,169,535 (GRCm39) |
L766R |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,030,124 (GRCm39) |
V420M |
probably benign |
Het |
| Met |
T |
C |
6: 17,558,831 (GRCm39) |
V1153A |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,340,998 (GRCm39) |
I196N |
possibly damaging |
Het |
| Or7g21 |
G |
A |
9: 19,033,051 (GRCm39) |
V264I |
probably benign |
Het |
| Polrmt |
C |
T |
10: 79,574,545 (GRCm39) |
A883T |
probably benign |
Het |
| Prkcg |
G |
A |
7: 3,375,965 (GRCm39) |
D537N |
possibly damaging |
Het |
| Rpap3 |
A |
T |
15: 97,579,655 (GRCm39) |
D452E |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,879,269 (GRCm39) |
D585G |
probably null |
Het |
| St18 |
T |
A |
1: 6,872,997 (GRCm39) |
I244N |
probably benign |
Het |
| Stat1 |
T |
A |
1: 52,187,160 (GRCm39) |
|
probably null |
Het |
| Stk39 |
A |
G |
2: 68,198,755 (GRCm39) |
Y288H |
probably damaging |
Het |
| Tas2r140 |
G |
A |
6: 133,032,494 (GRCm39) |
S88F |
probably benign |
Het |
| Tbc1d32 |
T |
C |
10: 56,072,507 (GRCm39) |
E308G |
probably damaging |
Het |
| Tcf7l1 |
T |
C |
6: 72,604,687 (GRCm39) |
T486A |
probably benign |
Het |
| Tie1 |
T |
C |
4: 118,343,817 (GRCm39) |
T42A |
possibly damaging |
Het |
| Tnnt2 |
A |
G |
1: 135,779,793 (GRCm39) |
T297A |
possibly damaging |
Het |
| Triobp |
G |
C |
15: 78,886,321 (GRCm39) |
G1867R |
probably damaging |
Het |
| Vmn1r234 |
A |
G |
17: 21,449,104 (GRCm39) |
H6R |
probably damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,562 (GRCm39) |
I7N |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,639 (GRCm39) |
S294T |
probably benign |
Het |
| Yjefn3 |
A |
G |
8: 70,340,633 (GRCm39) |
V197A |
probably benign |
Het |
| Zcchc4 |
CAGAG |
CAG |
5: 52,953,568 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
A |
G |
8: 109,527,010 (GRCm39) |
E969G |
probably damaging |
Het |
| Zfp112 |
G |
T |
7: 23,824,665 (GRCm39) |
C215F |
probably benign |
Het |
| Zfp994 |
A |
T |
17: 22,420,514 (GRCm39) |
L145Q |
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 |
|
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 |
|
R9281:Dync2i1
|
UTSW |
12 |
116,211,677 (GRCm39) |
nonsense |
probably null |
|
|
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'- TCCAAGTACATATAGGACCTCTGTG -3'
(R):5'- TTCTACATCCCAACTGCAGGC -3'
Sequencing Primer
(F):5'- ACATATAGGACCTCTGTGTATGTTTG -3'
(R):5'- CTGGCTGTTCAGATGGAAGCATC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation