Incidental Mutation 'R7042:Dync2i1'
| ID |
547126 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
045141-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7042 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116218061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 182
(I182M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
[ENSMUST00000222679]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039349
AA Change: I182M
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: I182M
| 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 |
probably benign
Transcript: ENSMUST00000222679
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,192,098 (GRCm39) |
S554G |
possibly damaging |
Het |
| Adcy7 |
G |
T |
8: 89,042,378 (GRCm39) |
R415L |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,141,759 (GRCm39) |
I1182F |
probably damaging |
Het |
| Ccdc7b |
T |
A |
8: 129,811,730 (GRCm39) |
Y147N |
probably benign |
Het |
| Clcnka |
A |
G |
4: 141,118,691 (GRCm39) |
I398T |
probably damaging |
Het |
| Cst8 |
T |
A |
2: 148,641,796 (GRCm39) |
|
probably null |
Het |
| Dcxr |
T |
C |
11: 120,617,841 (GRCm39) |
D45G |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,617 (GRCm39) |
M510K |
possibly damaging |
Het |
| Ebf1 |
T |
A |
11: 44,882,338 (GRCm39) |
H431Q |
probably damaging |
Het |
| Eml4 |
T |
C |
17: 83,768,999 (GRCm39) |
I681T |
probably damaging |
Het |
| Etf1 |
T |
C |
18: 35,043,219 (GRCm39) |
N164S |
probably benign |
Het |
| Fmo2 |
A |
G |
1: 162,708,226 (GRCm39) |
V303A |
probably damaging |
Het |
| Foxl2 |
T |
A |
9: 98,837,715 (GRCm39) |
M1K |
probably null |
Het |
| Gm3404 |
A |
T |
5: 146,462,969 (GRCm39) |
E50D |
probably benign |
Het |
| Gpr61 |
G |
A |
3: 108,058,647 (GRCm39) |
P5S |
possibly damaging |
Het |
| Hcrtr1 |
A |
G |
4: 130,024,653 (GRCm39) |
|
probably benign |
Het |
| Ier3ip1 |
T |
A |
18: 77,017,828 (GRCm39) |
F3I |
possibly damaging |
Het |
| Ifi206 |
G |
A |
1: 173,308,808 (GRCm39) |
P396L |
|
Het |
| Ifi209 |
G |
A |
1: 173,470,236 (GRCm39) |
V275I |
probably benign |
Het |
| Ighv1-69 |
T |
C |
12: 115,586,909 (GRCm39) |
S75G |
probably benign |
Het |
| Kcnj3 |
A |
T |
2: 55,484,877 (GRCm39) |
H325L |
possibly damaging |
Het |
| Klrk1 |
A |
T |
6: 129,593,734 (GRCm39) |
S50T |
possibly damaging |
Het |
| Mfsd4b4 |
T |
A |
10: 39,768,514 (GRCm39) |
Y193F |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,116,905 (GRCm39) |
I210V |
possibly damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,746 (GRCm39) |
I208F |
possibly damaging |
Het |
| Or5w12 |
A |
T |
2: 87,501,935 (GRCm39) |
Y259N |
possibly damaging |
Het |
| Or8b3 |
G |
T |
9: 38,314,196 (GRCm39) |
G6C |
probably damaging |
Het |
| Or8d23 |
A |
G |
9: 38,841,622 (GRCm39) |
S52G |
possibly damaging |
Het |
| Pax6 |
A |
T |
2: 105,526,718 (GRCm39) |
H208L |
probably benign |
Het |
| Pgc |
C |
A |
17: 48,044,745 (GRCm39) |
Q331K |
probably benign |
Het |
| Phldb1 |
A |
G |
9: 44,605,721 (GRCm39) |
S370P |
probably damaging |
Het |
| Pi4k2a |
T |
C |
19: 42,093,337 (GRCm39) |
I226T |
probably benign |
Het |
| Pick1 |
T |
C |
15: 79,132,965 (GRCm39) |
S342P |
probably damaging |
Het |
| Plscr1 |
A |
G |
9: 92,153,588 (GRCm39) |
M312V |
probably damaging |
Het |
| Ppp3cc |
T |
G |
14: 70,462,468 (GRCm39) |
K399Q |
probably benign |
Het |
| Qpctl |
T |
C |
7: 18,880,943 (GRCm39) |
H163R |
probably benign |
Het |
| Rab11fip5 |
A |
G |
6: 85,351,110 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rasal1 |
T |
A |
5: 120,802,025 (GRCm39) |
|
probably null |
Het |
| Rem2 |
T |
A |
14: 54,715,548 (GRCm39) |
I171N |
probably damaging |
Het |
| Sec22a |
T |
A |
16: 35,149,885 (GRCm39) |
I214L |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 79,130,070 (GRCm39) |
D54G |
probably damaging |
Het |
| Slc27a2 |
C |
T |
2: 126,409,700 (GRCm39) |
A294V |
probably damaging |
Het |
| Slfn14 |
T |
A |
11: 83,167,430 (GRCm39) |
D695V |
probably damaging |
Het |
| Smc6 |
T |
A |
12: 11,359,301 (GRCm39) |
I975K |
probably damaging |
Het |
| Spice1 |
T |
C |
16: 44,206,043 (GRCm39) |
F835L |
probably benign |
Het |
| Tars2 |
A |
T |
3: 95,658,057 (GRCm39) |
H222Q |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,206,477 (GRCm39) |
F273I |
probably damaging |
Het |
| Ttc39d |
C |
A |
17: 80,523,891 (GRCm39) |
D183E |
probably benign |
Het |
| Vasp |
A |
G |
7: 18,995,946 (GRCm39) |
S128P |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,818,378 (GRCm39) |
S2P |
unknown |
Het |
| Vmn2r98 |
T |
C |
17: 19,301,184 (GRCm39) |
Y729H |
probably benign |
Het |
| Wdr18 |
A |
T |
10: 79,801,944 (GRCm39) |
D243V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,343,633 (GRCm39) |
V1958A |
probably benign |
Het |
| Zfp451 |
A |
T |
1: 33,816,474 (GRCm39) |
M492K |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,820,042 (GRCm39) |
I1007T |
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 |
|
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 |
|
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'- CACACTGTGCCCTAGAAGTATG -3'
(R):5'- CTGACACTTGTTGCCCTTGAG -3'
Sequencing Primer
(F):5'- TCTTCAGTTCCCAAGTGC -3'
(R):5'- ACACTTGTTGCCCTTGAGTTTTGAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation