Incidental Mutation 'R5870:Dync2i1'
| ID |
455147 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
044078-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5870 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116219865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 26
(S26P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
[ENSMUST00000222679]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039349
AA Change: S26P
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: S26P
| 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: ENSMUST00000221029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223039
|
| Meta Mutation Damage Score |
0.1106 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.1%
|
| Validation Efficiency |
93% (84/90) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,236,232 (GRCm39) |
V156A |
probably damaging |
Het |
| Ak6 |
C |
A |
13: 100,791,932 (GRCm39) |
P125Q |
probably damaging |
Het |
| Aqp4 |
A |
C |
18: 15,532,946 (GRCm39) |
V49G |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,251,163 (GRCm39) |
I874T |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,387 (GRCm39) |
D2040G |
unknown |
Het |
| Atp1a3 |
T |
G |
7: 24,697,003 (GRCm39) |
D220A |
probably benign |
Het |
| C2cd4c |
A |
T |
10: 79,448,043 (GRCm39) |
I368N |
possibly damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,394 (GRCm39) |
Q625* |
probably null |
Het |
| Cd177 |
T |
A |
7: 24,455,757 (GRCm39) |
H255L |
probably benign |
Het |
| Cdipt |
G |
A |
7: 126,578,094 (GRCm39) |
V114M |
probably benign |
Het |
| Coro1b |
T |
A |
19: 4,199,384 (GRCm39) |
H14Q |
probably damaging |
Het |
| Ctdp1 |
T |
A |
18: 80,451,901 (GRCm39) |
D158V |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,503,545 (GRCm39) |
S140T |
probably damaging |
Het |
| Dlgap3 |
T |
A |
4: 127,089,502 (GRCm39) |
L366* |
probably null |
Het |
| Dnah9 |
C |
T |
11: 65,976,036 (GRCm39) |
A1338T |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,952,199 (GRCm39) |
I424V |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,109,490 (GRCm39) |
A891S |
probably benign |
Het |
| Elmod3 |
A |
G |
6: 72,571,721 (GRCm39) |
|
probably null |
Het |
| Eps15 |
G |
A |
4: 109,218,507 (GRCm39) |
E107K |
probably damaging |
Het |
| Esco1 |
A |
T |
18: 10,593,744 (GRCm39) |
|
probably null |
Het |
| Fuz |
A |
G |
7: 44,549,742 (GRCm39) |
T407A |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,424,197 (GRCm39) |
F27I |
probably benign |
Het |
| Glt1d1 |
A |
G |
5: 127,754,344 (GRCm39) |
Y182C |
probably damaging |
Het |
| Gm37240 |
A |
T |
3: 84,597,828 (GRCm39) |
|
probably benign |
Het |
| Gm37610 |
A |
G |
6: 41,061,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6658 |
G |
T |
8: 91,635,020 (GRCm39) |
|
probably benign |
Het |
| Gm9376 |
A |
G |
14: 118,504,789 (GRCm39) |
T74A |
possibly damaging |
Het |
| Hadha |
G |
A |
5: 30,349,284 (GRCm39) |
S109F |
possibly damaging |
Het |
| Herc3 |
A |
T |
6: 58,893,435 (GRCm39) |
Q899L |
probably benign |
Het |
| Ift172 |
C |
T |
5: 31,434,284 (GRCm39) |
E485K |
probably benign |
Het |
| Lrrc8e |
A |
G |
8: 4,285,725 (GRCm39) |
K650R |
possibly damaging |
Het |
| Ly6d |
A |
T |
15: 74,635,381 (GRCm39) |
V10D |
possibly damaging |
Het |
| Med27 |
A |
G |
2: 29,279,823 (GRCm39) |
|
probably null |
Het |
| Med29 |
A |
T |
7: 28,091,922 (GRCm39) |
V56E |
probably damaging |
Het |
| Mobp |
A |
G |
9: 119,996,919 (GRCm39) |
K17E |
probably damaging |
Het |
| Mrpl37 |
G |
A |
4: 106,923,919 (GRCm39) |
T25I |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,092,805 (GRCm39) |
D33G |
possibly damaging |
Het |
| Nrg3 |
T |
A |
14: 39,194,586 (GRCm39) |
I58F |
possibly damaging |
Het |
| Or52e2 |
A |
G |
7: 102,804,948 (GRCm39) |
I2T |
probably benign |
Het |
| Or7e176 |
A |
G |
9: 20,171,874 (GRCm39) |
D246G |
probably benign |
Het |
| Padi1 |
T |
A |
4: 140,553,892 (GRCm39) |
D359V |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,877,753 (GRCm39) |
V436A |
possibly damaging |
Het |
| Pgm3 |
C |
A |
9: 86,452,414 (GRCm39) |
K15N |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,790,730 (GRCm39) |
|
probably benign |
Het |
| Pot1a |
G |
A |
6: 25,778,950 (GRCm39) |
T48I |
possibly damaging |
Het |
| Ppic |
T |
C |
18: 53,542,333 (GRCm39) |
K125R |
probably benign |
Het |
| Ppm1j |
T |
C |
3: 104,692,811 (GRCm39) |
V440A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,331,300 (GRCm39) |
K458* |
probably null |
Het |
| Rd3 |
A |
T |
1: 191,717,261 (GRCm39) |
M244L |
probably benign |
Het |
| Rflnb |
A |
G |
11: 75,912,864 (GRCm39) |
Y175H |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,237,900 (GRCm39) |
S574C |
probably benign |
Het |
| Sardh |
A |
G |
2: 27,110,653 (GRCm39) |
|
probably null |
Het |
| Senp3 |
C |
T |
11: 69,569,048 (GRCm39) |
|
probably null |
Het |
| Siglec1 |
G |
A |
2: 130,914,767 (GRCm39) |
R1450C |
probably damaging |
Het |
| Sim2 |
A |
G |
16: 93,924,193 (GRCm39) |
H446R |
probably damaging |
Het |
| Spon1 |
T |
C |
7: 113,631,021 (GRCm39) |
I444T |
probably damaging |
Het |
| Srebf1 |
T |
A |
11: 60,094,410 (GRCm39) |
Q568H |
possibly damaging |
Het |
| Stxbp4 |
A |
T |
11: 90,428,782 (GRCm39) |
I441N |
possibly damaging |
Het |
| Sugt1 |
G |
A |
14: 79,846,451 (GRCm39) |
V163I |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,271 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,088,128 (GRCm39) |
E1348G |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,619,111 (GRCm39) |
V349D |
probably damaging |
Het |
| Ten1 |
A |
G |
11: 116,105,751 (GRCm39) |
R112G |
possibly damaging |
Het |
| Tm9sf4 |
A |
G |
2: 153,036,201 (GRCm39) |
D321G |
probably damaging |
Het |
| Ttll12 |
A |
T |
15: 83,461,237 (GRCm39) |
M594K |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,703,058 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
C |
T |
9: 48,937,285 (GRCm39) |
Q185* |
probably null |
Het |
| Vmn2r112 |
A |
G |
17: 22,838,004 (GRCm39) |
I822V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,382,682 (GRCm39) |
L88* |
probably null |
Het |
| Zfr |
T |
A |
15: 12,160,701 (GRCm39) |
V758D |
probably damaging |
Het |
| Zfyve27 |
T |
G |
19: 42,160,110 (GRCm39) |
L42R |
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 |
|
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 |
|
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'- CACGAGGATGTTCTGTGGAG -3'
(R):5'- TGCCAATCAGCTCGTACATG -3'
Sequencing Primer
(F):5'- AGGTGTACAGGTCTCTCTCAGC -3'
(R):5'- CCAATCAGCTCGTACATGGGTTTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation