Incidental Mutation 'R8809:Dync2i1'
| ID |
672301 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
068645-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8809 (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 G
at 116193234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 573
(S573P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039349
AA Change: S573P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: S573P
| 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 |
0.3480 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
C |
T |
10: 89,550,841 (GRCm39) |
V318I |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
| Ankdd1a |
A |
T |
9: 65,415,422 (GRCm39) |
|
probably benign |
Het |
| Arcn1 |
T |
C |
9: 44,655,259 (GRCm39) |
T501A |
possibly damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,521,690 (GRCm39) |
F166I |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,822,524 (GRCm39) |
S467P |
possibly damaging |
Het |
| Cenpb |
A |
G |
2: 131,020,322 (GRCm39) |
V492A |
unknown |
Het |
| Ces1b |
C |
A |
8: 93,786,948 (GRCm39) |
G477V |
probably damaging |
Het |
| Ces1b |
C |
T |
8: 93,786,949 (GRCm39) |
G477R |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,942,382 (GRCm39) |
K1724R |
probably benign |
Het |
| Chrd |
A |
T |
16: 20,553,270 (GRCm39) |
Q182L |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,664,457 (GRCm39) |
T486A |
probably benign |
Het |
| Col25a1 |
A |
T |
3: 130,354,466 (GRCm39) |
|
probably null |
Het |
| Col4a1 |
A |
G |
8: 11,295,916 (GRCm39) |
Y101H |
unknown |
Het |
| Crybg1 |
T |
C |
10: 43,879,428 (GRCm39) |
T587A |
probably damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,835,374 (GRCm39) |
N301I |
possibly damaging |
Het |
| Cyp2f2 |
A |
T |
7: 26,831,995 (GRCm39) |
N417Y |
probably damaging |
Het |
| Dnah6 |
T |
A |
6: 73,009,546 (GRCm39) |
E3800D |
possibly damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,127,489 (GRCm39) |
T906K |
probably damaging |
Het |
| Fbxo15 |
A |
G |
18: 84,978,200 (GRCm39) |
H183R |
possibly damaging |
Het |
| Fgl1 |
T |
A |
8: 41,650,368 (GRCm39) |
K194* |
probably null |
Het |
| Fxr1 |
G |
A |
3: 34,108,430 (GRCm39) |
V314I |
possibly damaging |
Het |
| Hrnr |
A |
G |
3: 93,239,443 (GRCm39) |
Q3227R |
unknown |
Het |
| Ier5 |
G |
A |
1: 154,974,716 (GRCm39) |
A154V |
probably benign |
Het |
| Igkc |
T |
G |
6: 70,703,502 (GRCm39) |
L28V |
|
Het |
| Kcnh1 |
G |
A |
1: 191,903,722 (GRCm39) |
G54D |
probably damaging |
Het |
| Kcnn1 |
C |
T |
8: 71,305,297 (GRCm39) |
|
probably null |
Het |
| Kifbp |
C |
T |
10: 62,395,491 (GRCm39) |
D384N |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,197,198 (GRCm39) |
N234I |
possibly damaging |
Het |
| Krtap4-9 |
T |
C |
11: 99,676,454 (GRCm39) |
I125T |
unknown |
Het |
| Lrig2 |
T |
C |
3: 104,368,993 (GRCm39) |
T897A |
probably benign |
Het |
| Lyve1 |
G |
T |
7: 110,452,999 (GRCm39) |
T199K |
probably damaging |
Het |
| Myorg |
T |
C |
4: 41,498,812 (GRCm39) |
T273A |
probably benign |
Het |
| Napa |
A |
G |
7: 15,846,551 (GRCm39) |
D113G |
possibly damaging |
Het |
| Neurog1 |
GGTG |
GGTGTG |
13: 56,399,098 (GRCm39) |
|
probably null |
Het |
| Nf1 |
T |
A |
11: 79,437,964 (GRCm39) |
H91Q |
probably damaging |
Het |
| Or4c11c |
T |
C |
2: 88,662,256 (GRCm39) |
M265T |
probably benign |
Het |
| Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
| Or52e3 |
A |
T |
7: 102,869,446 (GRCm39) |
N174Y |
probably benign |
Het |
| Or5k16 |
T |
A |
16: 58,736,248 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or7g16 |
A |
G |
9: 18,726,919 (GRCm39) |
S224P |
probably damaging |
Het |
| Pccb |
A |
T |
9: 100,867,220 (GRCm39) |
Y455* |
probably null |
Het |
| Pdk2 |
A |
T |
11: 94,923,339 (GRCm39) |
I95N |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,714,436 (GRCm39) |
R196H |
|
Het |
| Pkd1l2 |
A |
G |
8: 117,726,660 (GRCm39) |
L2282P |
probably damaging |
Het |
| Plppr2 |
TCGCC |
TC |
9: 21,855,727 (GRCm39) |
|
probably benign |
Het |
| Prdm1 |
A |
T |
10: 44,315,749 (GRCm39) |
S796T |
probably benign |
Het |
| Rb1 |
A |
G |
14: 73,503,000 (GRCm39) |
F424L |
probably damaging |
Het |
| Retreg3 |
A |
G |
11: 100,992,852 (GRCm39) |
L190P |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,700,864 (GRCm39) |
Y321H |
probably damaging |
Het |
| Rlbp1 |
A |
G |
7: 79,025,704 (GRCm39) |
Y246H |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,015,655 (GRCm39) |
|
probably benign |
Het |
| Slc17a3 |
C |
A |
13: 24,039,575 (GRCm39) |
C244* |
probably null |
Het |
| Snapc1 |
T |
C |
12: 74,021,812 (GRCm39) |
S304P |
probably benign |
Het |
| Sp9 |
T |
C |
2: 73,104,019 (GRCm39) |
L191P |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,889,738 (GRCm39) |
E202D |
probably benign |
Het |
| Ss18 |
A |
G |
18: 14,760,344 (GRCm39) |
*419R |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,276,421 (GRCm39) |
E1824G |
possibly damaging |
Het |
| Tacc3 |
T |
A |
5: 33,824,029 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
A |
T |
13: 40,870,829 (GRCm39) |
L353Q |
probably damaging |
Het |
| Ugt3a1 |
A |
G |
15: 9,367,345 (GRCm39) |
I363V |
possibly damaging |
Het |
| Vmn1r158 |
A |
G |
7: 22,489,775 (GRCm39) |
C145R |
probably damaging |
Het |
| Vmn1r23 |
A |
T |
6: 57,903,352 (GRCm39) |
I142K |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,874 (GRCm39) |
I610N |
probably benign |
Het |
| Yy1 |
CGGCGACCACGGCGGCGGCGGGGGCG |
CGGCG |
12: 108,759,506 (GRCm39) |
|
probably benign |
Het |
| Zbtb7c |
T |
C |
18: 76,270,190 (GRCm39) |
Y93H |
probably damaging |
Het |
| Zfp62 |
A |
G |
11: 49,107,238 (GRCm39) |
N443S |
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 |
|
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'- CTGCAGGCATTGAGTGTTTC -3'
(R):5'- TTAAGAAGTATGGCTTACCTTGGG -3'
Sequencing Primer
(F):5'- GTGTTTAGCTATAAACCAAT -3'
(R):5'- ACAGCCAGTTGTGTGCTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation