Incidental Mutation 'R6751:Dync2i1'
| ID |
530798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
044868-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6751 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116177076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 842
(V842E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039349
AA Change: V842E
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: V842E
| 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: ENSMUST00000222539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222764
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
| Validation Efficiency |
95% (59/62) |
| 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 |
|---|
| 1110002E22Rik |
A |
T |
3: 137,771,971 (GRCm39) |
N387Y |
probably damaging |
Het |
| Abhd17a |
T |
C |
10: 80,422,421 (GRCm39) |
E87G |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,188,330 (GRCm39) |
|
probably null |
Het |
| Adcy6 |
T |
C |
15: 98,494,086 (GRCm39) |
N817S |
probably benign |
Het |
| Ak8 |
T |
A |
2: 28,599,957 (GRCm39) |
L63* |
probably null |
Het |
| Arhgef28 |
G |
A |
13: 98,211,755 (GRCm39) |
S76L |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 63,966,261 (GRCm39) |
L891S |
possibly damaging |
Het |
| Cacng5 |
C |
A |
11: 107,768,379 (GRCm39) |
M209I |
probably benign |
Het |
| Casr |
T |
C |
16: 36,335,950 (GRCm39) |
I120V |
probably benign |
Het |
| Ccnq |
T |
C |
11: 78,641,950 (GRCm39) |
Y180C |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,833,866 (GRCm39) |
Y1207H |
probably damaging |
Het |
| Chrnb2 |
A |
T |
3: 89,668,883 (GRCm39) |
F144Y |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,348,391 (GRCm39) |
H362L |
probably damaging |
Het |
| Dnaaf4 |
A |
G |
9: 72,869,257 (GRCm39) |
T156A |
probably benign |
Het |
| Dym |
G |
A |
18: 75,419,718 (GRCm39) |
V630M |
probably damaging |
Het |
| Dyrk1b |
C |
A |
7: 27,886,134 (GRCm39) |
P619Q |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,831,659 (GRCm39) |
D433G |
probably damaging |
Het |
| Frem2 |
A |
T |
3: 53,561,086 (GRCm39) |
S1140R |
probably damaging |
Het |
| Gabra5 |
T |
C |
7: 57,068,082 (GRCm39) |
R255G |
probably damaging |
Het |
| Galnt17 |
T |
A |
5: 131,110,428 (GRCm39) |
I304F |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,363 (GRCm39) |
S322G |
probably benign |
Het |
| Herc1 |
TCCC |
TCC |
9: 66,408,470 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,610,269 (GRCm39) |
N1467Y |
probably damaging |
Het |
| Ifna6 |
T |
C |
4: 88,745,987 (GRCm39) |
L112P |
probably damaging |
Het |
| Ifrd1 |
C |
T |
12: 40,253,913 (GRCm39) |
|
probably null |
Het |
| Il17f |
A |
G |
1: 20,849,713 (GRCm39) |
M17T |
probably benign |
Het |
| Itga11 |
G |
A |
9: 62,675,866 (GRCm39) |
V892I |
probably benign |
Het |
| Nckap5l |
A |
G |
15: 99,321,042 (GRCm39) |
L1246P |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,243 (GRCm39) |
H467Q |
probably damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,055 (GRCm39) |
V131A |
possibly damaging |
Het |
| Or51r1 |
G |
A |
7: 102,227,706 (GRCm39) |
M1I |
probably null |
Het |
| Or8b40 |
T |
G |
9: 38,027,271 (GRCm39) |
Y60D |
probably damaging |
Het |
| Or8g37 |
T |
A |
9: 39,731,193 (GRCm39) |
V86E |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,976 (GRCm39) |
V135A |
probably benign |
Het |
| Osbpl8 |
T |
C |
10: 111,110,874 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,597,778 (GRCm39) |
V537D |
possibly damaging |
Het |
| Pde4b |
A |
T |
4: 102,459,868 (GRCm39) |
M583L |
probably damaging |
Het |
| Phlda1 |
T |
C |
10: 111,342,555 (GRCm39) |
V97A |
possibly damaging |
Het |
| Pik3cb |
G |
T |
9: 98,976,574 (GRCm39) |
H174Q |
probably benign |
Het |
| Plxdc2 |
A |
T |
2: 16,552,952 (GRCm39) |
I117F |
probably benign |
Het |
| Psapl1 |
C |
A |
5: 36,362,303 (GRCm39) |
C298* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Homo |
| Rtkn2 |
T |
A |
10: 67,877,283 (GRCm39) |
F448I |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,500,617 (GRCm39) |
R221G |
probably damaging |
Het |
| Serpina3c |
A |
G |
12: 104,117,759 (GRCm39) |
L193P |
probably damaging |
Het |
| Sox12 |
T |
C |
2: 152,238,678 (GRCm39) |
Y314C |
probably damaging |
Het |
| Spata31h1 |
A |
G |
10: 82,119,331 (GRCm39) |
S4560P |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,067,859 (GRCm39) |
E1772G |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,099,775 (GRCm39) |
V1570A |
probably benign |
Het |
| Synrg |
T |
C |
11: 83,872,251 (GRCm39) |
F125S |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,494,919 (GRCm39) |
I1116F |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tfap2d |
C |
A |
1: 19,173,507 (GRCm39) |
H10N |
possibly damaging |
Het |
| Trpm8 |
T |
C |
1: 88,312,428 (GRCm39) |
I1103T |
possibly damaging |
Het |
| Vmn1r158 |
C |
T |
7: 22,489,306 (GRCm39) |
C301Y |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,428,719 (GRCm39) |
I516V |
probably benign |
Het |
| Vmn2r71 |
G |
A |
7: 85,269,095 (GRCm39) |
|
probably null |
Het |
| Vnn3 |
C |
T |
10: 23,745,523 (GRCm39) |
R491C |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,600,274 (GRCm39) |
Y911C |
probably damaging |
Het |
| Zfp772 |
C |
T |
7: 7,206,716 (GRCm39) |
R325Q |
possibly damaging |
Het |
| Zranb3 |
T |
A |
1: 127,887,556 (GRCm39) |
H957L |
probably benign |
Het |
| Zscan20 |
G |
T |
4: 128,479,668 (GRCm39) |
T941K |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,227,373 (GRCm39) |
F346I |
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 |
|
|
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'- ACATCACTGAGGTCCAACTAATG -3'
(R):5'- CCGACATGGTTAGTAGTAGCTTAC -3'
Sequencing Primer
(F):5'- TCACTGAGGTCCAACTAATGATTAG -3'
(R):5'- GGTTAGTAGTAGCTTACATTTCATCC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation