Incidental Mutation 'IGL02646:Dync1i1'
ID |
301944 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dync1i1
|
Ensembl Gene |
ENSMUSG00000029757 |
Gene Name |
dynein cytoplasmic 1 intermediate chain 1 |
Synonyms |
DIC, IC74, Dncic1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.831)
|
Stock # |
IGL02646
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
5725772-6028030 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5767034 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 86
(D86G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121787
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115554]
[ENSMUST00000115555]
[ENSMUST00000115556]
[ENSMUST00000115559]
[ENSMUST00000153942]
|
AlphaFold |
O88485 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000115554
AA Change: D38G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111216 Gene: ENSMUSG00000029757 AA Change: D38G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
Pfam:Dynein_IC2
|
105 |
137 |
3.1e-20 |
PFAM |
low complexity region
|
143 |
150 |
N/A |
INTRINSIC |
Blast:WD40
|
235 |
288 |
2e-26 |
BLAST |
WD40
|
293 |
332 |
9.6e-2 |
SMART |
WD40
|
339 |
382 |
8.91e-1 |
SMART |
WD40
|
436 |
481 |
4.48e-2 |
SMART |
WD40
|
484 |
524 |
6.19e-1 |
SMART |
WD40
|
529 |
569 |
7.67e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115555
AA Change: D38G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111217 Gene: ENSMUSG00000029757 AA Change: D38G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
Pfam:Dynein_IC2
|
143 |
173 |
6.9e-18 |
PFAM |
low complexity region
|
180 |
187 |
N/A |
INTRINSIC |
Blast:WD40
|
272 |
325 |
4e-26 |
BLAST |
WD40
|
330 |
369 |
9.6e-2 |
SMART |
WD40
|
376 |
419 |
8.91e-1 |
SMART |
WD40
|
473 |
518 |
4.48e-2 |
SMART |
WD40
|
521 |
561 |
6.19e-1 |
SMART |
WD40
|
566 |
606 |
7.67e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115556
AA Change: D38G
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000111218 Gene: ENSMUSG00000029757 AA Change: D38G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
Pfam:Dynein_IC2
|
114 |
146 |
9.2e-21 |
PFAM |
low complexity region
|
152 |
159 |
N/A |
INTRINSIC |
Blast:WD40
|
245 |
297 |
3e-26 |
BLAST |
WD40
|
302 |
341 |
9.6e-2 |
SMART |
WD40
|
348 |
391 |
8.91e-1 |
SMART |
WD40
|
445 |
490 |
4.48e-2 |
SMART |
WD40
|
493 |
533 |
6.19e-1 |
SMART |
WD40
|
538 |
578 |
7.67e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115559
AA Change: D38G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000111221 Gene: ENSMUSG00000029757 AA Change: D38G
Domain | Start | End | E-Value | Type |
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
Pfam:Dynein_IC2
|
125 |
157 |
2e-20 |
PFAM |
low complexity region
|
163 |
170 |
N/A |
INTRINSIC |
Blast:WD40
|
256 |
308 |
3e-26 |
BLAST |
WD40
|
313 |
352 |
9.6e-2 |
SMART |
WD40
|
359 |
402 |
8.91e-1 |
SMART |
WD40
|
456 |
501 |
4.48e-2 |
SMART |
WD40
|
504 |
544 |
6.19e-1 |
SMART |
WD40
|
549 |
589 |
7.67e0 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153942
AA Change: D86G
PolyPhen 2
Score 0.118 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000121787 Gene: ENSMUSG00000029757 AA Change: D86G
Domain | Start | End | E-Value | Type |
coiled coil region
|
45 |
91 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000204149
AA Change: D27G
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
A |
4: 137,182,101 (GRCm39) |
Y85* |
probably null |
Het |
Abcg2 |
A |
G |
6: 58,662,681 (GRCm39) |
I508V |
probably benign |
Het |
Adgrb2 |
T |
C |
4: 129,913,075 (GRCm39) |
|
probably null |
Het |
Api5 |
T |
A |
2: 94,260,184 (GRCm39) |
H24L |
possibly damaging |
Het |
Apoh |
T |
C |
11: 108,302,968 (GRCm39) |
V311A |
probably benign |
Het |
Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
Brca2 |
G |
T |
5: 150,484,255 (GRCm39) |
V2994L |
possibly damaging |
Het |
Brd1 |
A |
T |
15: 88,585,080 (GRCm39) |
V918D |
probably damaging |
Het |
Calr3 |
T |
G |
8: 73,197,304 (GRCm39) |
D43A |
possibly damaging |
Het |
Cdh16 |
T |
C |
8: 105,348,737 (GRCm39) |
|
probably null |
Het |
Cep192 |
T |
C |
18: 67,995,548 (GRCm39) |
S2033P |
probably damaging |
Het |
Dnah7a |
G |
A |
1: 53,564,194 (GRCm39) |
T1955M |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Eri2 |
T |
C |
7: 119,385,331 (GRCm39) |
D390G |
possibly damaging |
Het |
Fank1 |
C |
T |
7: 133,481,758 (GRCm39) |
|
probably benign |
Het |
Hoxb7 |
A |
T |
11: 96,177,570 (GRCm39) |
Y6F |
possibly damaging |
Het |
Hspg2 |
A |
C |
4: 137,279,159 (GRCm39) |
S3081R |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,790,892 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,174,212 (GRCm39) |
I1762T |
probably benign |
Het |
Mia2 |
A |
G |
12: 59,155,622 (GRCm39) |
D445G |
probably damaging |
Het |
Or8h9 |
T |
C |
2: 86,789,697 (GRCm39) |
Y35C |
probably damaging |
Het |
Plcg2 |
A |
T |
8: 118,330,622 (GRCm39) |
I827F |
possibly damaging |
Het |
Poglut3 |
A |
G |
9: 53,295,551 (GRCm39) |
D51G |
probably benign |
Het |
Rnls |
C |
A |
19: 33,115,684 (GRCm39) |
|
probably benign |
Het |
Scn1a |
A |
T |
2: 66,129,962 (GRCm39) |
|
probably null |
Het |
Sec22b |
T |
A |
3: 97,828,561 (GRCm39) |
V208E |
possibly damaging |
Het |
Slc8a3 |
A |
T |
12: 81,361,868 (GRCm39) |
I317N |
probably damaging |
Het |
Snx33 |
A |
G |
9: 56,834,043 (GRCm39) |
Y9H |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,529,473 (GRCm39) |
T1910N |
probably damaging |
Het |
Tas2r122 |
T |
A |
6: 132,688,753 (GRCm39) |
I47F |
probably damaging |
Het |
Tedc1 |
T |
G |
12: 113,120,921 (GRCm39) |
L118V |
possibly damaging |
Het |
Tln2 |
A |
T |
9: 67,163,278 (GRCm39) |
S1090T |
probably benign |
Het |
Tpcn2 |
T |
C |
7: 144,812,311 (GRCm39) |
D511G |
probably benign |
Het |
Usp21 |
T |
C |
1: 171,110,669 (GRCm39) |
|
probably benign |
Het |
Vmn2r17 |
T |
A |
5: 109,600,946 (GRCm39) |
L748Q |
probably damaging |
Het |
Zp2 |
T |
C |
7: 119,734,564 (GRCm39) |
D495G |
possibly damaging |
Het |
|
Other mutations in Dync1i1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00468:Dync1i1
|
APN |
6 |
5,972,135 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01816:Dync1i1
|
APN |
6 |
5,767,146 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02171:Dync1i1
|
APN |
6 |
5,969,498 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02672:Dync1i1
|
APN |
6 |
5,767,034 (GRCm39) |
missense |
probably benign |
0.12 |
IGL02691:Dync1i1
|
APN |
6 |
5,800,767 (GRCm39) |
splice site |
probably benign |
|
IGL02880:Dync1i1
|
APN |
6 |
5,966,821 (GRCm39) |
splice site |
probably null |
|
IGL02796:Dync1i1
|
UTSW |
6 |
5,757,385 (GRCm39) |
missense |
probably benign |
0.00 |
R0519:Dync1i1
|
UTSW |
6 |
6,027,399 (GRCm39) |
missense |
probably benign |
|
R1404:Dync1i1
|
UTSW |
6 |
5,915,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R1404:Dync1i1
|
UTSW |
6 |
5,915,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Dync1i1
|
UTSW |
6 |
5,769,799 (GRCm39) |
splice site |
probably benign |
|
R2119:Dync1i1
|
UTSW |
6 |
5,767,096 (GRCm39) |
missense |
probably damaging |
0.97 |
R3177:Dync1i1
|
UTSW |
6 |
5,972,211 (GRCm39) |
critical splice donor site |
probably null |
|
R3277:Dync1i1
|
UTSW |
6 |
5,972,211 (GRCm39) |
critical splice donor site |
probably null |
|
R4028:Dync1i1
|
UTSW |
6 |
5,961,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R4058:Dync1i1
|
UTSW |
6 |
5,769,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R4551:Dync1i1
|
UTSW |
6 |
5,923,206 (GRCm39) |
missense |
probably benign |
0.01 |
R4748:Dync1i1
|
UTSW |
6 |
5,767,048 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5263:Dync1i1
|
UTSW |
6 |
5,969,446 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6193:Dync1i1
|
UTSW |
6 |
5,730,679 (GRCm39) |
missense |
probably benign |
0.03 |
R6280:Dync1i1
|
UTSW |
6 |
5,972,084 (GRCm39) |
missense |
probably benign |
0.00 |
R6933:Dync1i1
|
UTSW |
6 |
5,913,333 (GRCm39) |
missense |
probably damaging |
1.00 |
R7083:Dync1i1
|
UTSW |
6 |
5,969,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R7347:Dync1i1
|
UTSW |
6 |
5,784,530 (GRCm39) |
makesense |
probably null |
|
R7512:Dync1i1
|
UTSW |
6 |
5,969,410 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7543:Dync1i1
|
UTSW |
6 |
5,784,464 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7601:Dync1i1
|
UTSW |
6 |
5,905,129 (GRCm39) |
missense |
probably benign |
0.19 |
R8349:Dync1i1
|
UTSW |
6 |
5,966,815 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8449:Dync1i1
|
UTSW |
6 |
5,966,815 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8518:Dync1i1
|
UTSW |
6 |
5,913,330 (GRCm39) |
missense |
probably damaging |
0.97 |
R8766:Dync1i1
|
UTSW |
6 |
5,767,142 (GRCm39) |
missense |
possibly damaging |
0.57 |
R9242:Dync1i1
|
UTSW |
6 |
5,769,706 (GRCm39) |
missense |
probably benign |
|
R9253:Dync1i1
|
UTSW |
6 |
5,769,698 (GRCm39) |
missense |
probably benign |
0.00 |
R9375:Dync1i1
|
UTSW |
6 |
5,913,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
X0010:Dync1i1
|
UTSW |
6 |
5,972,141 (GRCm39) |
missense |
probably benign |
0.06 |
Z1177:Dync1i1
|
UTSW |
6 |
5,767,057 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |