Incidental Mutation 'R5263:Dync1i1'
| ID |
401550 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i1
|
| Ensembl Gene |
ENSMUSG00000029757 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 1 |
| Synonyms |
DIC, IC74, Dncic1 |
| MMRRC Submission |
042831-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R5263 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
5725772-6028030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5969446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 424
(V424I)
|
| 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: V415I
PolyPhen 2
Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: V415I
| 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: V452I
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: V452I
| 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 |
possibly damaging
Transcript: ENSMUST00000115556
AA Change: V424I
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: V424I
| 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: V435I
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: V435I
| 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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh4 |
G |
T |
3: 138,133,816 (GRCm39) |
V309L |
probably benign |
Het |
| Agmo |
T |
C |
12: 37,407,680 (GRCm39) |
V188A |
probably benign |
Het |
| Aqr |
A |
G |
2: 113,947,059 (GRCm39) |
M1041T |
probably damaging |
Het |
| Arhgef4 |
T |
A |
1: 34,764,078 (GRCm39) |
S1111R |
possibly damaging |
Het |
| Ascc3 |
A |
C |
10: 50,592,757 (GRCm39) |
E1144D |
probably benign |
Het |
| Cct3 |
T |
C |
3: 88,228,672 (GRCm39) |
|
probably null |
Het |
| Cd209f |
T |
C |
8: 4,154,506 (GRCm39) |
T114A |
probably benign |
Het |
| Cgnl1 |
G |
A |
9: 71,539,936 (GRCm39) |
Q1103* |
probably null |
Het |
| Cop1 |
G |
A |
1: 159,152,507 (GRCm39) |
D586N |
probably damaging |
Het |
| Dcaf5 |
A |
G |
12: 80,395,120 (GRCm39) |
S350P |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,084,755 (GRCm39) |
C658R |
probably damaging |
Het |
| Gfap |
C |
T |
11: 102,787,756 (GRCm39) |
R63Q |
probably damaging |
Het |
| Gm10563 |
CTTT |
CTTTATTT |
4: 155,698,940 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
C |
A |
10: 51,502,900 (GRCm39) |
G321V |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Izumo1r |
A |
G |
9: 14,812,976 (GRCm39) |
C99R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,850,691 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl4 |
G |
A |
17: 95,047,937 (GRCm39) |
Q235* |
probably null |
Het |
| Mmrn2 |
A |
G |
14: 34,121,541 (GRCm39) |
T804A |
probably benign |
Het |
| Mrgprb5 |
A |
G |
7: 47,817,937 (GRCm39) |
V266A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,188 (GRCm39) |
D195G |
probably damaging |
Het |
| Pld4 |
T |
C |
12: 112,731,465 (GRCm39) |
L206P |
probably damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Prkd1 |
A |
G |
12: 50,435,089 (GRCm39) |
L546P |
probably damaging |
Het |
| Rhob |
A |
T |
12: 8,549,232 (GRCm39) |
M134K |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,548,347 (GRCm39) |
S3087P |
possibly damaging |
Het |
| Sema6c |
T |
C |
3: 95,080,463 (GRCm39) |
L887P |
probably benign |
Het |
| Sltm |
T |
C |
9: 70,492,081 (GRCm39) |
S648P |
unknown |
Het |
| Sucnr1 |
A |
G |
3: 59,994,190 (GRCm39) |
I239M |
possibly damaging |
Het |
| Tgtp2 |
T |
A |
11: 48,950,090 (GRCm39) |
M161L |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,663,137 (GRCm39) |
V1037A |
probably benign |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,841 (GRCm39) |
H285Q |
probably benign |
Het |
| Zfp971 |
T |
A |
2: 177,675,555 (GRCm39) |
C385S |
probably damaging |
Het |
| Zfpm2 |
T |
A |
15: 40,962,791 (GRCm39) |
V283E |
probably benign |
Het |
| Zranb1 |
CTGATGATGATG |
CTGATGATGATGATG |
7: 132,584,556 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAGCACTGTGTGAAAAGCAAAC -3'
(R):5'- GACCGATGTGTGCTTTAAGC -3'
Sequencing Primer
(F):5'- TGTGAAAAGCAAACAGACCATTTAGC -3'
(R):5'- ACCGATGTGTGCTTTAAGCTAGTAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation