Incidental Mutation 'R1543:Dync2i1'
| ID |
171946 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
039582-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1543 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 116195404 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039349
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.2%
|
| Validation Efficiency |
95% (77/81) |
| 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 |
|---|
| 1810009J06Rik |
G |
A |
6: 40,945,138 (GRCm39) |
V206I |
probably damaging |
Het |
| Abca8b |
A |
C |
11: 109,865,500 (GRCm39) |
M319R |
probably damaging |
Het |
| Abcc6 |
T |
C |
7: 45,665,928 (GRCm39) |
R231G |
probably benign |
Het |
| Acadm |
A |
G |
3: 153,635,209 (GRCm39) |
Y302H |
probably damaging |
Het |
| Acox3 |
C |
A |
5: 35,760,352 (GRCm39) |
R423S |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,759,371 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
C |
1: 25,527,169 (GRCm39) |
M589R |
probably benign |
Het |
| Adgrl2 |
A |
C |
3: 148,564,909 (GRCm39) |
F224V |
probably damaging |
Het |
| Adm2 |
G |
C |
15: 89,208,282 (GRCm39) |
G74A |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,552,370 (GRCm39) |
V15E |
probably damaging |
Het |
| Ankzf1 |
T |
A |
1: 75,169,160 (GRCm39) |
V22D |
possibly damaging |
Het |
| Arap2 |
T |
A |
5: 62,763,498 (GRCm39) |
K1549* |
probably null |
Het |
| Arhgef11 |
G |
A |
3: 87,620,324 (GRCm39) |
R430H |
probably benign |
Het |
| Asb17 |
T |
G |
3: 153,550,148 (GRCm39) |
L60W |
probably damaging |
Het |
| BC035044 |
T |
C |
6: 128,867,948 (GRCm39) |
|
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,166,000 (GRCm39) |
T1422A |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,471,716 (GRCm39) |
M254L |
possibly damaging |
Het |
| Celf6 |
T |
C |
9: 59,511,160 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
G |
T |
19: 21,789,937 (GRCm39) |
A668S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,333,123 (GRCm39) |
V120I |
probably benign |
Het |
| Cyp20a1 |
C |
A |
1: 60,415,353 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,631,708 (GRCm39) |
|
probably benign |
Het |
| Dclk3 |
A |
G |
9: 111,297,122 (GRCm39) |
H222R |
probably benign |
Het |
| Deaf1 |
A |
G |
7: 140,904,060 (GRCm39) |
S109P |
possibly damaging |
Het |
| Dlg5 |
T |
A |
14: 24,194,516 (GRCm39) |
D1675V |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,727,268 (GRCm39) |
V605E |
probably benign |
Het |
| Frem2 |
A |
T |
3: 53,479,876 (GRCm39) |
I1939N |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,811,931 (GRCm39) |
Y2750F |
possibly damaging |
Het |
| Gpr39 |
T |
A |
1: 125,800,161 (GRCm39) |
I304N |
probably damaging |
Het |
| Hdac7 |
G |
A |
15: 97,707,410 (GRCm39) |
|
probably benign |
Het |
| Hipk1 |
T |
C |
3: 103,685,480 (GRCm39) |
H45R |
probably benign |
Het |
| Hyal2 |
T |
C |
9: 107,447,386 (GRCm39) |
L13P |
probably damaging |
Het |
| Kdm1b |
C |
T |
13: 47,221,997 (GRCm39) |
R479W |
probably damaging |
Het |
| Lilrb4b |
A |
G |
10: 51,357,517 (GRCm39) |
T118A |
probably damaging |
Het |
| Lin7a |
C |
A |
10: 107,247,930 (GRCm39) |
F78L |
possibly damaging |
Het |
| Lpin3 |
A |
G |
2: 160,737,310 (GRCm39) |
D119G |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,331,074 (GRCm39) |
R1661C |
probably damaging |
Het |
| Lrrc45 |
A |
G |
11: 120,610,844 (GRCm39) |
K527E |
probably benign |
Het |
| Map10 |
C |
T |
8: 126,397,611 (GRCm39) |
P335S |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,244,955 (GRCm39) |
S2P |
possibly damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,268,808 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,591,084 (GRCm39) |
N1018K |
probably benign |
Het |
| Nckipsd |
C |
A |
9: 108,689,571 (GRCm39) |
A244D |
possibly damaging |
Het |
| Nt5el |
A |
T |
13: 105,248,877 (GRCm39) |
R364* |
probably null |
Het |
| Or12k5 |
C |
A |
2: 36,895,139 (GRCm39) |
L162F |
probably damaging |
Het |
| Or1j1 |
A |
T |
2: 36,703,069 (GRCm39) |
F12I |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,142 (GRCm39) |
V164A |
probably benign |
Het |
| Or52j3 |
T |
A |
7: 102,836,421 (GRCm39) |
F204L |
probably benign |
Het |
| Or8b12c |
T |
A |
9: 37,715,243 (GRCm39) |
I12N |
possibly damaging |
Het |
| Pcx |
A |
T |
19: 4,652,251 (GRCm39) |
D112V |
probably damaging |
Het |
| Phf14 |
G |
A |
6: 11,987,682 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
G |
11: 8,851,200 (GRCm39) |
I744T |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,668,607 (GRCm39) |
L560P |
probably damaging |
Het |
| Psmd14 |
A |
T |
2: 61,615,874 (GRCm39) |
M248L |
probably benign |
Het |
| Ryr1 |
T |
G |
7: 28,782,962 (GRCm39) |
E1884A |
possibly damaging |
Het |
| Scn4b |
T |
A |
9: 45,061,727 (GRCm39) |
S204R |
probably damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,026,777 (GRCm39) |
M471L |
possibly damaging |
Het |
| Slc17a5 |
A |
G |
9: 78,468,082 (GRCm39) |
V236A |
probably benign |
Het |
| Sobp |
T |
C |
10: 42,897,720 (GRCm39) |
T622A |
probably damaging |
Het |
| Spata31d1a |
G |
T |
13: 59,850,056 (GRCm39) |
R691S |
probably benign |
Het |
| Speg |
A |
G |
1: 75,398,595 (GRCm39) |
E2014G |
probably damaging |
Het |
| Steap4 |
A |
G |
5: 8,025,902 (GRCm39) |
|
probably benign |
Het |
| Tas2r144 |
G |
A |
6: 42,192,537 (GRCm39) |
M92I |
probably benign |
Het |
| Tbc1d5 |
T |
C |
17: 51,242,560 (GRCm39) |
Q179R |
probably benign |
Het |
| Tcf25 |
T |
C |
8: 124,115,326 (GRCm39) |
Y188H |
probably benign |
Het |
| Tmem200a |
G |
A |
10: 25,954,518 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Tssk5 |
T |
C |
15: 76,256,409 (GRCm39) |
T337A |
probably benign |
Het |
| Ttc23 |
T |
C |
7: 67,328,743 (GRCm39) |
V228A |
probably benign |
Het |
| Tulp1 |
A |
T |
17: 28,581,645 (GRCm39) |
|
probably benign |
Het |
| Uqcc3 |
A |
G |
19: 8,858,117 (GRCm39) |
F25L |
probably damaging |
Het |
| Vmn2r1 |
G |
A |
3: 63,996,994 (GRCm39) |
G217S |
probably damaging |
Het |
| Vmn2r120 |
C |
T |
17: 57,829,374 (GRCm39) |
E508K |
probably benign |
Het |
| Wdfy3 |
C |
A |
5: 101,991,947 (GRCm39) |
V3451L |
probably benign |
Het |
| Wdr19 |
G |
A |
5: 65,382,033 (GRCm39) |
V418I |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,338,383 (GRCm39) |
T208I |
probably benign |
Het |
| Xpnpep1 |
A |
G |
19: 52,980,107 (GRCm39) |
V639A |
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 |
|
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 |
|
|
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'- CAAGTCAGATGAGGGAGGTCTGCT -3'
(R):5'- TGGCTTCACCATAAGAAAGCTCCAG -3'
Sequencing Primer
(F):5'- GGTTATGTACTTGAAAGCTTCCC -3'
(R):5'- CCATAAGAAAGCTCCAGGGTTG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation