Incidental Mutation 'IGL02672:Dync1i1'
ID |
302961 |
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 # |
IGL02672
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
Fbxw9 |
C |
A |
8: 85,792,682 (GRCm39) |
|
probably null |
Het |
Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
Gatad2b |
C |
T |
3: 90,249,198 (GRCm39) |
L79F |
possibly damaging |
Het |
Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
Ppp4r1 |
A |
G |
17: 66,147,942 (GRCm39) |
Y928C |
probably damaging |
Het |
Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
Sae1 |
A |
G |
7: 16,104,273 (GRCm39) |
V112A |
probably damaging |
Het |
Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
Smad3 |
A |
T |
9: 63,575,009 (GRCm39) |
|
probably null |
Het |
Sox8 |
T |
A |
17: 25,787,963 (GRCm39) |
D162V |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
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 |
IGL02646: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 |