Incidental Mutation 'IGL02479:Dync1i2'
| ID |
295086 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dync1i2
|
| Ensembl Gene |
ENSMUSG00000027012 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
| Synonyms |
3110079H08Rik, Dncic2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL02479
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71066323 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 128
(V128I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081710]
[ENSMUST00000100028]
[ENSMUST00000112136]
[ENSMUST00000112138]
[ENSMUST00000112139]
[ENSMUST00000112140]
[ENSMUST00000112142]
[ENSMUST00000112144]
|
| AlphaFold |
O88487 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081710
AA Change: V128I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: V128I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
91 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
106 |
138 |
1.1e-20 |
PFAM |
|
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
|
Blast:WD40
|
243 |
291 |
3e-26 |
BLAST |
|
WD40
|
296 |
335 |
5.55e-1 |
SMART |
|
WD40
|
342 |
385 |
7.16e-1 |
SMART |
|
WD40
|
439 |
484 |
7.39e-3 |
SMART |
|
WD40
|
487 |
527 |
7.28e-2 |
SMART |
|
WD40
|
532 |
572 |
8.91e-1 |
SMART |
|
low complexity region
|
593 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100028
AA Change: V148I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: V148I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
91 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
126 |
158 |
2.8e-21 |
PFAM |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
Blast:WD40
|
263 |
311 |
4e-26 |
BLAST |
|
WD40
|
316 |
355 |
5.55e-1 |
SMART |
|
WD40
|
362 |
405 |
7.16e-1 |
SMART |
|
WD40
|
459 |
504 |
7.39e-3 |
SMART |
|
WD40
|
507 |
547 |
7.28e-2 |
SMART |
|
WD40
|
552 |
592 |
8.91e-1 |
SMART |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112136
AA Change: V154I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: V154I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
132 |
164 |
2.6e-21 |
PFAM |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
Blast:WD40
|
269 |
317 |
5e-26 |
BLAST |
|
WD40
|
322 |
361 |
5.55e-1 |
SMART |
|
WD40
|
368 |
411 |
7.16e-1 |
SMART |
|
WD40
|
465 |
510 |
7.39e-3 |
SMART |
|
WD40
|
513 |
553 |
7.28e-2 |
SMART |
|
WD40
|
558 |
598 |
8.91e-1 |
SMART |
|
low complexity region
|
618 |
632 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112138
AA Change: V128I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: V128I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
91 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
106 |
138 |
1.1e-20 |
PFAM |
|
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
|
Blast:WD40
|
243 |
291 |
3e-26 |
BLAST |
|
WD40
|
296 |
335 |
5.55e-1 |
SMART |
|
WD40
|
342 |
385 |
7.16e-1 |
SMART |
|
WD40
|
439 |
484 |
7.39e-3 |
SMART |
|
WD40
|
487 |
527 |
7.28e-2 |
SMART |
|
WD40
|
532 |
572 |
8.91e-1 |
SMART |
|
low complexity region
|
593 |
607 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112139
AA Change: V128I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: V128I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
91 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
106 |
138 |
4.5e-21 |
PFAM |
|
low complexity region
|
155 |
169 |
N/A |
INTRINSIC |
|
Blast:WD40
|
243 |
291 |
3e-26 |
BLAST |
|
WD40
|
296 |
335 |
5.55e-1 |
SMART |
|
WD40
|
342 |
385 |
7.16e-1 |
SMART |
|
WD40
|
439 |
484 |
7.39e-3 |
SMART |
|
WD40
|
487 |
527 |
7.28e-2 |
SMART |
|
WD40
|
532 |
572 |
8.91e-1 |
SMART |
|
low complexity region
|
592 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112140
AA Change: V154I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: V154I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
132 |
164 |
2.6e-21 |
PFAM |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
Blast:WD40
|
269 |
317 |
4e-26 |
BLAST |
|
WD40
|
322 |
361 |
5.55e-1 |
SMART |
|
WD40
|
368 |
411 |
7.16e-1 |
SMART |
|
WD40
|
465 |
510 |
7.39e-3 |
SMART |
|
WD40
|
513 |
553 |
7.28e-2 |
SMART |
|
WD40
|
558 |
598 |
8.91e-1 |
SMART |
|
low complexity region
|
619 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112142
AA Change: V148I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: V148I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
91 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
126 |
158 |
2.8e-21 |
PFAM |
|
low complexity region
|
175 |
189 |
N/A |
INTRINSIC |
|
Blast:WD40
|
263 |
311 |
4e-26 |
BLAST |
|
WD40
|
316 |
355 |
5.55e-1 |
SMART |
|
WD40
|
362 |
405 |
7.16e-1 |
SMART |
|
WD40
|
459 |
504 |
7.39e-3 |
SMART |
|
WD40
|
507 |
547 |
7.28e-2 |
SMART |
|
WD40
|
552 |
592 |
8.91e-1 |
SMART |
|
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112144
AA Change: V154I
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: V154I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
67 |
N/A |
INTRINSIC |
|
low complexity region
|
83 |
97 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
133 |
163 |
6.5e-19 |
PFAM |
|
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
|
Blast:WD40
|
269 |
317 |
4e-26 |
BLAST |
|
WD40
|
322 |
361 |
5.55e-1 |
SMART |
|
WD40
|
368 |
411 |
7.16e-1 |
SMART |
|
WD40
|
465 |
510 |
7.39e-3 |
SMART |
|
WD40
|
513 |
553 |
7.28e-2 |
SMART |
|
WD40
|
558 |
598 |
8.91e-1 |
SMART |
|
low complexity region
|
619 |
633 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141619
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit a trend towards slight locomotor deficit. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(50) : Targeted, other(2) Gene trapped(48) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam1b |
T |
C |
5: 121,639,461 (GRCm39) |
Y528C |
probably damaging |
Het |
| Adam24 |
T |
A |
8: 41,132,571 (GRCm39) |
I13N |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,232,588 (GRCm39) |
S445P |
possibly damaging |
Het |
| Btf3l4 |
G |
A |
4: 108,683,373 (GRCm39) |
T31I |
possibly damaging |
Het |
| Cask |
A |
T |
X: 13,423,297 (GRCm39) |
D502E |
probably damaging |
Het |
| Cenpl |
T |
A |
1: 160,910,637 (GRCm39) |
S195T |
probably benign |
Het |
| Clhc1 |
T |
A |
11: 29,528,107 (GRCm39) |
I545N |
probably damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,254 (GRCm39) |
I216T |
probably benign |
Het |
| Csf2rb |
C |
T |
15: 78,225,924 (GRCm39) |
Q332* |
probably null |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,477 (GRCm39) |
D284G |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,566,115 (GRCm39) |
E345G |
probably benign |
Het |
| Eno3 |
T |
A |
11: 70,551,714 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
T |
A |
2: 49,422,147 (GRCm39) |
I347K |
probably benign |
Het |
| F8 |
A |
T |
X: 74,331,846 (GRCm39) |
N681K |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,153,259 (GRCm39) |
D1238E |
probably damaging |
Het |
| Fcna |
T |
A |
2: 25,515,272 (GRCm39) |
Q237L |
probably benign |
Het |
| Fpr2 |
A |
T |
17: 18,113,074 (GRCm39) |
R23S |
probably benign |
Het |
| Frmd3 |
A |
G |
4: 74,105,752 (GRCm39) |
D466G |
probably benign |
Het |
| Gen1 |
C |
A |
12: 11,291,936 (GRCm39) |
V618L |
probably benign |
Het |
| Gja4 |
T |
C |
4: 127,206,217 (GRCm39) |
E182G |
probably benign |
Het |
| Gsdmc |
T |
A |
15: 63,649,824 (GRCm39) |
I356F |
possibly damaging |
Het |
| Kctd19 |
T |
C |
8: 106,111,400 (GRCm39) |
D102G |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,794,235 (GRCm39) |
L433P |
probably damaging |
Het |
| Lrp2 |
G |
A |
2: 69,295,145 (GRCm39) |
|
probably benign |
Het |
| Luc7l3 |
G |
A |
11: 94,187,735 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
T |
A |
10: 19,932,230 (GRCm39) |
L458Q |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,878,545 (GRCm39) |
S1038P |
probably damaging |
Het |
| Med12 |
A |
T |
X: 100,340,598 (GRCm39) |
|
probably benign |
Het |
| Mtor |
T |
A |
4: 148,555,041 (GRCm39) |
L888M |
probably damaging |
Het |
| Nova1 |
A |
T |
12: 46,863,701 (GRCm39) |
I83N |
unknown |
Het |
| Obscn |
A |
G |
11: 58,947,053 (GRCm39) |
|
probably benign |
Het |
| Or11q2 |
T |
C |
X: 48,772,742 (GRCm39) |
V121A |
probably benign |
Het |
| Or4d10c |
T |
A |
19: 12,065,269 (GRCm39) |
M296L |
probably benign |
Het |
| Or4f15 |
A |
C |
2: 111,813,730 (GRCm39) |
S230A |
probably benign |
Het |
| Or6k2 |
C |
A |
1: 173,986,520 (GRCm39) |
Y60* |
probably null |
Het |
| Pde2a |
A |
G |
7: 101,150,290 (GRCm39) |
Y243C |
probably damaging |
Het |
| Pdzd8 |
T |
A |
19: 59,288,215 (GRCm39) |
K1062* |
probably null |
Het |
| Phc1 |
A |
T |
6: 122,300,676 (GRCm39) |
|
probably benign |
Het |
| Pik3c2g |
T |
A |
6: 139,863,730 (GRCm39) |
S764T |
probably benign |
Het |
| Pmp2 |
T |
G |
3: 10,247,262 (GRCm39) |
R89S |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,861,499 (GRCm39) |
L597P |
probably damaging |
Het |
| Rfx6 |
T |
A |
10: 51,554,424 (GRCm39) |
D88E |
probably benign |
Het |
| Rgs9 |
T |
C |
11: 109,116,478 (GRCm39) |
S442G |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,285,968 (GRCm39) |
R82Q |
possibly damaging |
Het |
| Sez6 |
C |
A |
11: 77,868,852 (GRCm39) |
A986E |
possibly damaging |
Het |
| Slc5a5 |
T |
A |
8: 71,341,555 (GRCm39) |
M325L |
possibly damaging |
Het |
| Slx9 |
T |
C |
10: 77,350,161 (GRCm39) |
S76G |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,763 (GRCm39) |
V188I |
probably benign |
Het |
| Srrm3 |
G |
T |
5: 135,864,103 (GRCm39) |
C67F |
probably damaging |
Het |
| Stk31 |
A |
G |
6: 49,398,622 (GRCm39) |
E341G |
probably damaging |
Het |
| Svil |
A |
T |
18: 5,099,476 (GRCm39) |
M1267L |
probably damaging |
Het |
| Tas2r135 |
C |
T |
6: 42,382,685 (GRCm39) |
R75* |
probably null |
Het |
| Trav8d-1 |
T |
C |
14: 53,016,257 (GRCm39) |
S48P |
probably benign |
Het |
| Vrk1 |
A |
T |
12: 106,017,261 (GRCm39) |
Q95L |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,527 (GRCm39) |
T224K |
probably benign |
Het |
| Wdr37 |
A |
T |
13: 8,892,820 (GRCm39) |
H224Q |
probably damaging |
Het |
| Zhx1 |
C |
T |
15: 57,917,767 (GRCm39) |
E160K |
probably damaging |
Het |
|
| Other mutations in Dync1i2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00789:Dync1i2
|
APN |
2 |
71,078,299 (GRCm39) |
splice site |
probably benign |
|
|
IGL01609:Dync1i2
|
APN |
2 |
71,077,352 (GRCm39) |
splice site |
probably benign |
|
|
IGL02545:Dync1i2
|
APN |
2 |
71,093,095 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
3-1:Dync1i2
|
UTSW |
2 |
71,078,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Dync1i2
|
UTSW |
2 |
71,044,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Dync1i2
|
UTSW |
2 |
71,044,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0437:Dync1i2
|
UTSW |
2 |
71,058,169 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0555:Dync1i2
|
UTSW |
2 |
71,044,862 (GRCm39) |
frame shift |
probably null |
|
|
R0835:Dync1i2
|
UTSW |
2 |
71,081,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1146:Dync1i2
|
UTSW |
2 |
71,058,164 (GRCm39) |
splice site |
probably benign |
|
|
R1452:Dync1i2
|
UTSW |
2 |
71,080,207 (GRCm39) |
splice site |
probably benign |
|
|
R1662:Dync1i2
|
UTSW |
2 |
71,081,323 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1765:Dync1i2
|
UTSW |
2 |
71,079,759 (GRCm39) |
missense |
probably benign |
|
|
R2059:Dync1i2
|
UTSW |
2 |
71,080,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2145:Dync1i2
|
UTSW |
2 |
71,044,907 (GRCm39) |
splice site |
probably benign |
|
|
R2233:Dync1i2
|
UTSW |
2 |
71,079,764 (GRCm39) |
nonsense |
probably null |
|
|
R2234:Dync1i2
|
UTSW |
2 |
71,079,764 (GRCm39) |
nonsense |
probably null |
|
|
R2235:Dync1i2
|
UTSW |
2 |
71,079,764 (GRCm39) |
nonsense |
probably null |
|
|
R3151:Dync1i2
|
UTSW |
2 |
71,064,060 (GRCm39) |
splice site |
probably benign |
|
|
R3916:Dync1i2
|
UTSW |
2 |
71,079,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Dync1i2
|
UTSW |
2 |
71,078,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Dync1i2
|
UTSW |
2 |
71,064,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Dync1i2
|
UTSW |
2 |
71,077,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5574:Dync1i2
|
UTSW |
2 |
71,063,994 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5620:Dync1i2
|
UTSW |
2 |
71,088,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5677:Dync1i2
|
UTSW |
2 |
71,058,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5711:Dync1i2
|
UTSW |
2 |
71,081,326 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6730:Dync1i2
|
UTSW |
2 |
71,077,484 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6911:Dync1i2
|
UTSW |
2 |
71,077,446 (GRCm39) |
missense |
probably benign |
|
|
R7140:Dync1i2
|
UTSW |
2 |
71,078,283 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7257:Dync1i2
|
UTSW |
2 |
71,079,700 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7460:Dync1i2
|
UTSW |
2 |
71,081,230 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7808:Dync1i2
|
UTSW |
2 |
71,081,178 (GRCm39) |
splice site |
probably null |
|
|
R8187:Dync1i2
|
UTSW |
2 |
71,044,865 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9340:Dync1i2
|
UTSW |
2 |
71,093,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Dync1i2
|
UTSW |
2 |
71,078,228 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2015-04-16 |
Incidental Mutation