Incidental Mutation 'R1404:Dync1i1'
| ID |
188653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i1
|
| Ensembl Gene |
ENSMUSG00000029757 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 1 |
| Synonyms |
DIC, IC74, Dncic1 |
| MMRRC Submission |
039466-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R1404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5725772-6028030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5915876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 253
(D253N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115554]
[ENSMUST00000115555]
[ENSMUST00000115556]
[ENSMUST00000115559]
|
| AlphaFold |
O88485 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115554
AA Change: D244N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: D244N
| 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 damaging
Transcript: ENSMUST00000115555
AA Change: D281N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: D281N
| 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: D253N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: D253N
| 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 damaging
Transcript: ENSMUST00000115559
AA Change: D264N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: D264N
| 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 |
|
| Meta Mutation Damage Score |
0.1725 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.0%
|
| Validation Efficiency |
100% (28/28) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
G |
A |
4: 53,059,253 (GRCm39) |
|
probably benign |
Het |
| Actl6a |
T |
C |
3: 32,776,759 (GRCm39) |
|
probably benign |
Het |
| Aoc1l1 |
A |
T |
6: 48,952,767 (GRCm39) |
T231S |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,385,371 (GRCm39) |
|
probably benign |
Het |
| Arrdc3 |
A |
G |
13: 81,031,973 (GRCm39) |
T69A |
probably damaging |
Het |
| Bbs2 |
T |
C |
8: 94,808,627 (GRCm39) |
K360R |
probably null |
Het |
| Cdh8 |
A |
T |
8: 100,006,250 (GRCm39) |
N112K |
probably damaging |
Het |
| Ces5a |
A |
T |
8: 94,228,809 (GRCm39) |
F474I |
probably damaging |
Het |
| Fam151b |
T |
C |
13: 92,610,480 (GRCm39) |
D103G |
probably damaging |
Het |
| Fam227b |
A |
G |
2: 125,845,759 (GRCm39) |
L410P |
probably damaging |
Het |
| Ihh |
A |
T |
1: 74,990,372 (GRCm39) |
M1K |
probably null |
Het |
| Itga6 |
A |
G |
2: 71,669,060 (GRCm39) |
T617A |
probably benign |
Het |
| Itpr1 |
T |
A |
6: 108,363,609 (GRCm39) |
C744S |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,311 (GRCm39) |
I208V |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,937,387 (GRCm39) |
K659R |
probably benign |
Het |
| Lpin3 |
T |
A |
2: 160,734,310 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
A |
4: 123,270,309 (GRCm39) |
E6612V |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,643,833 (GRCm39) |
K330E |
probably benign |
Het |
| Neb |
C |
T |
2: 52,073,287 (GRCm39) |
D1975N |
possibly damaging |
Het |
| Nell1 |
T |
A |
7: 50,503,621 (GRCm39) |
N675K |
possibly damaging |
Het |
| Nlrp6 |
GAGAAGAAGAAGAAGAAGAAGA |
GAGAAGAAGAAGAAGAAGA |
7: 140,504,026 (GRCm39) |
|
probably benign |
Het |
| Or4f47 |
G |
A |
2: 111,972,968 (GRCm39) |
R226H |
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,625,003 (GRCm39) |
E737G |
possibly damaging |
Het |
| Sardh |
C |
A |
2: 27,129,473 (GRCm39) |
W275L |
probably damaging |
Het |
| Sel1l2 |
C |
T |
2: 140,071,979 (GRCm39) |
|
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,176,712 (GRCm39) |
H1185Y |
probably damaging |
Het |
| Skp2 |
G |
A |
15: 9,117,012 (GRCm39) |
Q298* |
probably null |
Het |
| Spag16 |
G |
A |
1: 69,934,439 (GRCm39) |
|
probably benign |
Het |
| Spink14 |
A |
G |
18: 44,161,896 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Stx12 |
T |
A |
4: 132,598,960 (GRCm39) |
I43L |
probably benign |
Het |
| Tmc1 |
T |
A |
19: 20,793,548 (GRCm39) |
I538F |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,438,292 (GRCm39) |
M209V |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,643,312 (GRCm39) |
S13202R |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,786,211 (GRCm39) |
V338D |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,263,471 (GRCm39) |
L767P |
probably damaging |
Het |
| Zfp202 |
C |
T |
9: 40,122,792 (GRCm39) |
T518I |
probably 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTGAACTTTGGATAGCAGACCCAC -3'
(R):5'- GCGTAGAAGAGCTTACTTCACGGAATG -3'
Sequencing Primer
(F):5'- TAAAAGCCTTTCTGAGCCGGTAG -3'
(R):5'- TCTGAATGGATAATTAGCCCCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation