Incidental Mutation 'IGL00468:Dync1i1'
| ID |
5484 |
| 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 # |
IGL00468
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
5725772-6028030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5972135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 468
(V468M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115554]
[ENSMUST00000115555]
[ENSMUST00000115556]
[ENSMUST00000115559]
|
| AlphaFold |
O88485 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115554
AA Change: V459M
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: V459M
| 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: V496M
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: V496M
| 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 damaging
Transcript: ENSMUST00000115556
AA Change: V468M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: V468M
| 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: V479M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: V479M
| 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 |
noncoding transcript
Transcript: ENSMUST00000130004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,630,453 (GRCm39) |
E123G |
probably damaging |
Het |
| Alpk2 |
A |
T |
18: 65,438,894 (GRCm39) |
L1300Q |
probably benign |
Het |
| Armc9 |
T |
C |
1: 86,126,061 (GRCm39) |
Y51H |
probably damaging |
Het |
| Bcl11b |
A |
G |
12: 107,932,074 (GRCm39) |
V166A |
possibly damaging |
Het |
| Cfap70 |
T |
A |
14: 20,462,530 (GRCm39) |
D565V |
possibly damaging |
Het |
| Cops5 |
C |
A |
1: 10,104,295 (GRCm39) |
G132W |
probably damaging |
Het |
| Fasn |
A |
C |
11: 120,711,365 (GRCm39) |
D216E |
probably damaging |
Het |
| Fktn |
T |
A |
4: 53,734,866 (GRCm39) |
I168K |
probably benign |
Het |
| Gal3st2c |
A |
G |
1: 93,936,771 (GRCm39) |
R239G |
probably benign |
Het |
| Glt6d1 |
A |
C |
2: 25,701,041 (GRCm39) |
L36R |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,895,751 (GRCm39) |
I1000V |
probably benign |
Het |
| Hycc2 |
T |
G |
1: 58,569,391 (GRCm39) |
E396A |
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Lhcgr |
C |
T |
17: 89,049,874 (GRCm39) |
V551I |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,391,991 (GRCm39) |
S437R |
probably benign |
Het |
| Lrrc49 |
A |
G |
9: 60,595,151 (GRCm39) |
|
probably benign |
Het |
| Lrriq3 |
A |
G |
3: 154,806,816 (GRCm39) |
D155G |
probably damaging |
Het |
| Mcf2 |
G |
A |
X: 59,179,095 (GRCm39) |
T104I |
probably damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
A |
G |
14: 61,112,709 (GRCm39) |
E664G |
probably benign |
Het |
| Mybpc1 |
A |
T |
10: 88,385,124 (GRCm39) |
V519D |
probably damaging |
Het |
| Nfil3 |
C |
A |
13: 53,121,610 (GRCm39) |
L431F |
probably damaging |
Het |
| Sctr |
T |
A |
1: 119,972,450 (GRCm39) |
V197E |
probably damaging |
Het |
| Sesn2 |
T |
C |
4: 132,227,124 (GRCm39) |
T103A |
probably benign |
Het |
| Sptbn4 |
A |
T |
7: 27,117,390 (GRCm39) |
V453D |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,014,807 (GRCm39) |
H1023Q |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,947,640 (GRCm39) |
|
probably benign |
Het |
| Tekt2 |
T |
A |
4: 126,216,982 (GRCm39) |
E262D |
possibly damaging |
Het |
| Tenm4 |
T |
A |
7: 96,523,679 (GRCm39) |
H1732Q |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,251,469 (GRCm39) |
D840G |
possibly damaging |
Het |
| Tox4 |
A |
G |
14: 52,523,202 (GRCm39) |
D54G |
probably damaging |
Het |
|
| Other mutations in Dync1i1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation