Incidental Mutation 'R1663:Dync2i1'
| ID |
186956 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
039699-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116193230 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 574
(Q574R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039349
AA Change: Q574R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: Q574R
| 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: ENSMUST00000222764
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,177,949 (GRCm39) |
T11S |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,215,419 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,570,126 (GRCm39) |
D531E |
possibly damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,172,914 (GRCm39) |
P337S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,401,378 (GRCm39) |
I55V |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,038 (GRCm39) |
D21G |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,914 (GRCm39) |
F47I |
probably damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,253,899 (GRCm39) |
A1131T |
probably damaging |
Het |
| Arrb2 |
A |
T |
11: 70,328,429 (GRCm39) |
Q83L |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,580,322 (GRCm39) |
Q1082R |
possibly damaging |
Het |
| Atl2 |
A |
G |
17: 80,172,140 (GRCm39) |
S28P |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,084,651 (GRCm39) |
K89E |
possibly damaging |
Het |
| Cc2d1b |
A |
G |
4: 108,480,744 (GRCm39) |
T55A |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,363,956 (GRCm39) |
E1217G |
probably damaging |
Het |
| Cdc42ep4 |
A |
T |
11: 113,620,277 (GRCm39) |
M38K |
probably damaging |
Het |
| Cldn14 |
A |
G |
16: 93,716,166 (GRCm39) |
S227P |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,459,768 (GRCm39) |
C332S |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,841,488 (GRCm39) |
S370P |
unknown |
Het |
| Comp |
T |
C |
8: 70,826,250 (GRCm39) |
L10P |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,959,123 (GRCm39) |
N216K |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,618,340 (GRCm39) |
Q250* |
probably null |
Het |
| Drd5 |
T |
C |
5: 38,478,198 (GRCm39) |
F397S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,466 (GRCm39) |
S265P |
probably damaging |
Het |
| Enam |
A |
T |
5: 88,651,853 (GRCm39) |
S1046C |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,553,100 (GRCm39) |
|
probably null |
Het |
| Fam13a |
G |
A |
6: 58,931,357 (GRCm39) |
R408* |
probably null |
Het |
| Gipc2 |
T |
A |
3: 151,799,801 (GRCm39) |
M310L |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,639,230 (GRCm39) |
V440A |
probably benign |
Het |
| Gzmg |
A |
T |
14: 56,394,265 (GRCm39) |
C210S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,941,338 (GRCm39) |
A450E |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,483,439 (GRCm39) |
I190N |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,154,388 (GRCm39) |
S773T |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,852 (GRCm39) |
S221P |
probably damaging |
Het |
| Ifna9 |
T |
C |
4: 88,510,220 (GRCm39) |
T135A |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,896,046 (GRCm39) |
G1507R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,349 (GRCm39) |
T218A |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,498,964 (GRCm39) |
R337S |
possibly damaging |
Het |
| Krt74 |
A |
T |
15: 101,665,109 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp1 |
A |
T |
10: 127,392,790 (GRCm39) |
D2758E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,144,578 (GRCm39) |
E1295G |
probably damaging |
Het |
| Mccc1 |
C |
A |
3: 36,033,082 (GRCm39) |
W354L |
probably damaging |
Het |
| Mmp1a |
C |
T |
9: 7,465,657 (GRCm39) |
T198M |
probably benign |
Het |
| Mtmr2 |
C |
T |
9: 13,714,797 (GRCm39) |
T519I |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,553,407 (GRCm39) |
S2632P |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,970,903 (GRCm39) |
D295E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,538,820 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,913,478 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,375,093 (GRCm39) |
G407D |
probably damaging |
Het |
| Nucb1 |
A |
G |
7: 45,148,288 (GRCm39) |
F175S |
probably damaging |
Het |
| Or1l8 |
T |
G |
2: 36,817,346 (GRCm39) |
Y260S |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,160 (GRCm39) |
V138M |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,868 (GRCm39) |
I301R |
unknown |
Het |
| Pip5k1c |
T |
C |
10: 81,148,349 (GRCm39) |
V425A |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,857 (GRCm39) |
|
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,776 (GRCm39) |
V18A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,559,050 (GRCm39) |
N1063S |
probably benign |
Het |
| Rnf170 |
C |
T |
8: 26,619,171 (GRCm39) |
H132Y |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,328,498 (GRCm39) |
D1977G |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Setx |
T |
A |
2: 29,016,917 (GRCm39) |
C7S |
probably damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,907,384 (GRCm39) |
I417T |
probably damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,588 (GRCm39) |
F18C |
unknown |
Het |
| Sptbn1 |
T |
C |
11: 30,070,783 (GRCm39) |
Q1538R |
possibly damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,609 (GRCm39) |
Y188H |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,134,762 (GRCm39) |
K1040N |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,470,720 (GRCm39) |
Y901F |
probably benign |
Het |
| Tmem81 |
C |
T |
1: 132,435,635 (GRCm39) |
A147V |
probably benign |
Het |
| Tnpo3 |
T |
C |
6: 29,565,758 (GRCm39) |
D532G |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,411 (GRCm39) |
I827N |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,070,000 (GRCm39) |
K857R |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,582,569 (GRCm39) |
T406A |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,782,084 (GRCm39) |
L644P |
possibly damaging |
Het |
| Zfp605 |
G |
A |
5: 110,275,451 (GRCm39) |
V190I |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,733 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,649,805 (GRCm39) |
S779P |
probably benign |
Het |
| Zswim5 |
T |
A |
4: 116,844,092 (GRCm39) |
N1043K |
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 |
|
|
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 |
|
|
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'- GCATTACCTGAGTGACTACCTGAGAGA -3'
(R):5'- CAGGCTGCCTCCTCCTCTGAA -3'
Sequencing Primer
(F):5'- CATGGACAATCTCAGTTTCCAC -3'
(R):5'- gcctgcttatacatctgtgaacc -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation