Incidental Mutation 'R6962:Dync2i1'
| ID |
541842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
045072-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6962 (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 116175398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 926
(D926E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039349
AA Change: D926E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: D926E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
96% (74/77) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,150 (GRCm39) |
K1016E |
probably benign |
Het |
| Abca3 |
T |
C |
17: 24,583,700 (GRCm39) |
F30L |
probably benign |
Het |
| Arhgap17 |
C |
T |
7: 122,895,655 (GRCm39) |
G490R |
probably damaging |
Het |
| Arsg |
T |
A |
11: 109,412,495 (GRCm39) |
L140H |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,179,097 (GRCm39) |
C130* |
probably null |
Het |
| C4b |
T |
C |
17: 34,951,140 (GRCm39) |
|
probably null |
Het |
| Cdk5r2 |
A |
G |
1: 74,894,975 (GRCm39) |
Y240C |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,237,738 (GRCm39) |
|
probably benign |
Het |
| Cubn |
G |
A |
2: 13,352,840 (GRCm39) |
S1966F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,058,208 (GRCm39) |
Y1509C |
probably benign |
Het |
| Dpp4 |
A |
G |
2: 62,203,174 (GRCm39) |
V265A |
probably benign |
Het |
| Fbxl8 |
C |
A |
8: 105,995,338 (GRCm39) |
N283K |
possibly damaging |
Het |
| Fev |
T |
A |
1: 74,921,299 (GRCm39) |
Q122L |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,301,951 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
C |
3: 79,396,610 (GRCm39) |
L439R |
probably damaging |
Het |
| Git1 |
C |
A |
11: 77,395,469 (GRCm39) |
Q389K |
probably benign |
Het |
| Gm10509 |
C |
G |
17: 21,909,833 (GRCm39) |
I53M |
possibly damaging |
Het |
| Gm5773 |
A |
T |
3: 93,681,234 (GRCm39) |
H302L |
possibly damaging |
Het |
| Greb1l |
G |
T |
18: 10,547,327 (GRCm39) |
R1515L |
probably damaging |
Het |
| Gsc2 |
T |
C |
16: 17,732,902 (GRCm39) |
Y2C |
possibly damaging |
Het |
| H60b |
A |
G |
10: 22,162,053 (GRCm39) |
N93D |
probably benign |
Het |
| Hgf |
G |
A |
5: 16,820,752 (GRCm39) |
R633Q |
probably benign |
Het |
| Hmgb1 |
C |
T |
5: 148,985,633 (GRCm39) |
|
probably benign |
Het |
| Hmmr |
T |
C |
11: 40,598,242 (GRCm39) |
T657A |
probably damaging |
Het |
| Htt |
G |
T |
5: 35,057,115 (GRCm39) |
|
probably null |
Het |
| Ift80 |
G |
A |
3: 68,901,878 (GRCm39) |
|
probably benign |
Het |
| Kcnq5 |
G |
T |
1: 21,576,017 (GRCm39) |
T229K |
probably damaging |
Het |
| Kcp |
C |
T |
6: 29,482,839 (GRCm39) |
R1410Q |
probably benign |
Het |
| Klhl30 |
T |
G |
1: 91,285,137 (GRCm39) |
V331G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Lrrc37 |
G |
A |
11: 103,505,126 (GRCm39) |
P105S |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,334,515 (GRCm39) |
R2849Q |
probably benign |
Het |
| Mex3b |
T |
G |
7: 82,518,473 (GRCm39) |
S263A |
probably benign |
Het |
| Mrgpre |
A |
G |
7: 143,334,799 (GRCm39) |
S235P |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,307,363 (GRCm39) |
V226D |
probably benign |
Het |
| Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
| Nudt8 |
G |
T |
19: 4,051,831 (GRCm39) |
L147F |
probably damaging |
Het |
| Or2aj5 |
T |
A |
16: 19,424,672 (GRCm39) |
I249L |
probably benign |
Het |
| Or52e8 |
T |
A |
7: 104,624,580 (GRCm39) |
N208I |
probably benign |
Het |
| Or5w17 |
A |
G |
2: 87,584,071 (GRCm39) |
Y89H |
probably benign |
Het |
| Or6z7 |
A |
T |
7: 6,484,008 (GRCm39) |
I49N |
probably benign |
Het |
| P4htm |
C |
A |
9: 108,456,394 (GRCm39) |
A469S |
possibly damaging |
Het |
| Pld4 |
A |
T |
12: 112,733,288 (GRCm39) |
H288L |
probably benign |
Het |
| Pnpla1 |
T |
A |
17: 29,097,455 (GRCm39) |
I207N |
probably damaging |
Het |
| Ppcs |
T |
G |
4: 119,279,375 (GRCm39) |
N59T |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,492,645 (GRCm39) |
C214S |
probably damaging |
Het |
| Psg25 |
C |
T |
7: 18,263,679 (GRCm39) |
G48E |
probably damaging |
Het |
| Rassf7 |
A |
G |
7: 140,797,503 (GRCm39) |
T239A |
possibly damaging |
Het |
| Rgs3 |
G |
T |
4: 62,618,952 (GRCm39) |
|
probably benign |
Het |
| Scaper |
T |
C |
9: 55,767,055 (GRCm39) |
T465A |
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,746,021 (GRCm38) |
G405C |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,851 (GRCm39) |
D234G |
probably benign |
Het |
| Spata31f1e |
T |
C |
4: 42,793,323 (GRCm39) |
T270A |
probably damaging |
Het |
| Ssc4d |
A |
G |
5: 135,991,775 (GRCm39) |
|
probably null |
Het |
| Sugct |
G |
T |
13: 17,032,606 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
A |
7: 126,466,088 (GRCm39) |
|
probably null |
Het |
| Tbx20 |
A |
G |
9: 24,681,036 (GRCm39) |
V152A |
probably damaging |
Het |
| Tbx4 |
A |
G |
11: 85,781,085 (GRCm39) |
E66G |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,902,082 (GRCm39) |
E382G |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,315,645 (GRCm39) |
S300A |
possibly damaging |
Het |
| Trim46 |
A |
G |
3: 89,146,303 (GRCm39) |
L396P |
probably damaging |
Het |
| Trim56 |
A |
G |
5: 137,141,501 (GRCm39) |
F672L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,858,453 (GRCm39) |
L712S |
probably damaging |
Het |
| Unc93b1 |
T |
G |
19: 3,986,303 (GRCm39) |
D112E |
possibly damaging |
Het |
| Usp17lc |
T |
C |
7: 103,068,118 (GRCm39) |
L471P |
probably benign |
Het |
| Vmn2r85 |
A |
G |
10: 130,261,452 (GRCm39) |
I295T |
probably damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,818,283 (GRCm39) |
I812S |
probably damaging |
Het |
| Wdr7 |
G |
A |
18: 63,998,359 (GRCm39) |
C1102Y |
possibly damaging |
Het |
| Wnt9b |
G |
T |
11: 103,624,515 (GRCm39) |
Q92K |
probably null |
Het |
| Zbtb26 |
A |
T |
2: 37,326,106 (GRCm39) |
M310K |
possibly damaging |
Het |
| Zdhhc1 |
T |
C |
8: 106,210,279 (GRCm39) |
H46R |
probably damaging |
Het |
| Zfp628 |
G |
T |
7: 4,922,549 (GRCm39) |
R257L |
probably benign |
Het |
| Zfp747l1 |
A |
T |
7: 126,983,487 (GRCm39) |
D538E |
possibly damaging |
Het |
| Zmat4 |
A |
G |
8: 24,392,181 (GRCm39) |
T46A |
probably benign |
Het |
| Zmiz2 |
T |
A |
11: 6,352,455 (GRCm39) |
W637R |
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 |
|
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'- GTCCAAGTACATATAGGACCTCTGTG -3'
(R):5'- TACATCCCAACTGCAGGCTG -3'
Sequencing Primer
(F):5'- ACATATAGGACCTCTGTGTATGTTTG -3'
(R):5'- CTGGCTGTTCAGATGGAAGCATC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation