Incidental Mutation 'R7601:Dync1i1'
| ID |
588006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i1
|
| Ensembl Gene |
ENSMUSG00000029757 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 1 |
| Synonyms |
DIC, IC74, Dncic1 |
| MMRRC Submission |
045643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.831)
|
| Stock # |
R7601 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5725772-6028030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5905129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 161
(V161E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111218
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115554]
[ENSMUST00000115555]
[ENSMUST00000115556]
[ENSMUST00000115559]
|
| AlphaFold |
O88485 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115554
AA Change: V152E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: V152E
| 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: V189E
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: V189E
| 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: V161E
PolyPhen 2
Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
AA Change: V161E
| 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: V172E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: V172E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061I04Rik |
A |
G |
17: 36,206,741 (GRCm39) |
L16P |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,193,882 (GRCm39) |
Y746* |
probably null |
Het |
| Abcd4 |
A |
G |
12: 84,660,719 (GRCm39) |
Y129H |
possibly damaging |
Het |
| Acot10 |
T |
C |
15: 20,665,715 (GRCm39) |
D342G |
probably damaging |
Het |
| Als2 |
G |
T |
1: 59,209,161 (GRCm39) |
T1466K |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,687,603 (GRCm39) |
I465N |
probably benign |
Het |
| Ccndbp1 |
T |
C |
2: 120,846,627 (GRCm39) |
S309P |
probably damaging |
Het |
| Cdh22 |
A |
G |
2: 164,954,466 (GRCm39) |
L685P |
probably damaging |
Het |
| Cenps |
A |
G |
4: 149,216,772 (GRCm39) |
V39A |
possibly damaging |
Het |
| Dbr1 |
G |
T |
9: 99,464,655 (GRCm39) |
E145* |
probably null |
Het |
| Eeig2 |
T |
A |
3: 108,895,628 (GRCm39) |
T151S |
possibly damaging |
Het |
| F10 |
A |
G |
8: 13,100,781 (GRCm39) |
T232A |
probably benign |
Het |
| Faim2 |
C |
T |
15: 99,398,147 (GRCm39) |
G279D |
probably damaging |
Het |
| Fam114a2 |
T |
C |
11: 57,405,042 (GRCm39) |
K20R |
possibly damaging |
Het |
| Hspa4l |
T |
C |
3: 40,738,788 (GRCm39) |
|
probably null |
Het |
| Impg2 |
A |
T |
16: 56,080,394 (GRCm39) |
I733L |
probably benign |
Het |
| Itga11 |
T |
C |
9: 62,604,208 (GRCm39) |
V32A |
probably benign |
Het |
| Lima1 |
G |
A |
15: 99,717,577 (GRCm39) |
P143L |
probably benign |
Het |
| Lum |
A |
T |
10: 97,404,168 (GRCm39) |
Y21F |
probably damaging |
Het |
| Muc6 |
A |
G |
7: 141,216,454 (GRCm39) |
S2740P |
unknown |
Het |
| Nav1 |
A |
T |
1: 135,388,176 (GRCm39) |
D1082E |
unknown |
Het |
| Nmur1 |
A |
C |
1: 86,315,741 (GRCm39) |
C41W |
probably damaging |
Het |
| Or10ad1c |
G |
A |
15: 98,084,860 (GRCm39) |
H273Y |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,159,565 (GRCm39) |
V267A |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,597 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,054,674 (GRCm39) |
V76A |
probably benign |
Het |
| Pdcd11 |
T |
C |
19: 47,094,808 (GRCm39) |
S531P |
not run |
Het |
| Phtf1 |
T |
A |
3: 103,901,161 (GRCm39) |
H403Q |
probably benign |
Het |
| Piezo1 |
C |
T |
8: 123,210,220 (GRCm39) |
|
probably null |
Het |
| Pigh |
G |
A |
12: 79,132,479 (GRCm39) |
T111I |
probably damaging |
Het |
| Plekhf1 |
T |
C |
7: 37,921,304 (GRCm39) |
E88G |
probably damaging |
Het |
| Pnliprp1 |
C |
T |
19: 58,720,526 (GRCm39) |
T134M |
probably damaging |
Het |
| Ptges |
T |
A |
2: 30,782,809 (GRCm39) |
Y81F |
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,847,560 (GRCm39) |
S43P |
probably benign |
Het |
| Sephs2 |
A |
T |
7: 126,872,118 (GRCm39) |
I325K |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,713,994 (GRCm39) |
N750K |
possibly damaging |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Tbc1d23 |
A |
T |
16: 57,001,897 (GRCm39) |
M519K |
probably benign |
Het |
| Trdn |
A |
G |
10: 33,072,152 (GRCm39) |
E273G |
probably benign |
Het |
| Ubtf |
G |
A |
11: 102,197,480 (GRCm39) |
S724F |
unknown |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (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 |
|
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 |
|
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'- TTTCAAAGAGGTCCGTGTGG -3'
(R):5'- AAGGGCATGTGAGCTTCAG -3'
Sequencing Primer
(F):5'- TATTCATGAGCATTTGTCTGGC -3'
(R):5'- GCTTCAGCTTTCTTTGCTTCTATTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation