Incidental Mutation 'R1146:Dync1i2'
| ID |
165092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i2
|
| Ensembl Gene |
ENSMUSG00000027012 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
| Synonyms |
3110079H08Rik, Dncic2 |
| MMRRC Submission |
039219-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R1146 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 71058164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107772
(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
|
| SMART Domains |
Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
| 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
|
| SMART Domains |
Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
| 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: ENSMUST00000112139
|
| SMART Domains |
Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
| 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
|
| SMART Domains |
Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
| 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: ENSMUST00000141619
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149735
|
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.5%
- 10x: 95.4%
- 20x: 88.7%
|
| Validation Efficiency |
98% (44/45) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,679,795 (GRCm39) |
V1848E |
probably damaging |
Het |
| Alpk3 |
A |
G |
7: 80,727,343 (GRCm39) |
K158E |
probably damaging |
Het |
| Arrdc4 |
T |
A |
7: 68,389,756 (GRCm39) |
E356D |
probably damaging |
Het |
| Asb4 |
A |
G |
6: 5,423,591 (GRCm39) |
N246S |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,404,130 (GRCm39) |
|
probably benign |
Het |
| Ctsj |
G |
A |
13: 61,150,312 (GRCm39) |
P230L |
probably benign |
Het |
| Eme1 |
A |
G |
11: 94,536,277 (GRCm39) |
L564P |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Frg1 |
A |
G |
8: 41,864,254 (GRCm39) |
|
probably benign |
Het |
| Fzd2 |
A |
T |
11: 102,496,206 (GRCm39) |
S217C |
possibly damaging |
Het |
| Gaa |
G |
T |
11: 119,165,730 (GRCm39) |
R81L |
probably damaging |
Het |
| Gfral |
A |
G |
9: 76,074,341 (GRCm39) |
V368A |
probably benign |
Het |
| Gm10774 |
T |
C |
2: 126,551,392 (GRCm39) |
Y29C |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,830 (GRCm39) |
N545K |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,796,444 (GRCm39) |
S1939P |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,231 (GRCm39) |
I53T |
probably benign |
Het |
| Iqub |
G |
A |
6: 24,505,627 (GRCm39) |
L94F |
possibly damaging |
Het |
| Kpna1 |
C |
T |
16: 35,853,749 (GRCm39) |
R460* |
probably null |
Het |
| Masp1 |
T |
C |
16: 23,310,865 (GRCm39) |
E189G |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,250 (GRCm39) |
I105V |
probably benign |
Het |
| Mpi |
A |
G |
9: 57,452,472 (GRCm39) |
|
probably benign |
Het |
| Msh2 |
C |
A |
17: 87,987,488 (GRCm39) |
D209E |
probably benign |
Het |
| Nsf |
G |
A |
11: 103,719,364 (GRCm39) |
T646I |
probably damaging |
Het |
| Or10g9b |
A |
T |
9: 39,917,390 (GRCm39) |
V285D |
possibly damaging |
Het |
| Or4c10b |
C |
T |
2: 89,711,550 (GRCm39) |
P127S |
probably damaging |
Het |
| Or5b24 |
T |
A |
19: 12,912,329 (GRCm39) |
S76T |
possibly damaging |
Het |
| Or6b2 |
G |
A |
1: 92,407,612 (GRCm39) |
H244Y |
probably damaging |
Het |
| Otogl |
T |
A |
10: 107,722,374 (GRCm39) |
I327F |
probably damaging |
Het |
| Pappa2 |
T |
C |
1: 158,682,552 (GRCm39) |
D832G |
probably damaging |
Het |
| Pax5 |
G |
T |
4: 44,697,512 (GRCm39) |
|
probably benign |
Het |
| Pfkfb4 |
A |
G |
9: 108,836,794 (GRCm39) |
E163G |
probably benign |
Het |
| Phc1 |
T |
C |
6: 122,300,416 (GRCm39) |
|
probably benign |
Het |
| Piwil1 |
T |
C |
5: 128,824,957 (GRCm39) |
S552P |
probably benign |
Het |
| Ppfia3 |
A |
C |
7: 45,001,639 (GRCm39) |
D424E |
probably benign |
Het |
| Prss16 |
A |
G |
13: 22,191,138 (GRCm39) |
|
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,178,711 (GRCm39) |
|
probably null |
Het |
| Rexo1 |
C |
T |
10: 80,380,239 (GRCm39) |
S919N |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,510,032 (GRCm39) |
N1152D |
probably damaging |
Het |
| Sel1l3 |
A |
T |
5: 53,274,445 (GRCm39) |
F1012I |
possibly damaging |
Het |
| Sema4c |
A |
G |
1: 36,589,646 (GRCm39) |
V539A |
probably benign |
Het |
| Sf3b5 |
A |
G |
10: 12,884,575 (GRCm39) |
E70G |
possibly damaging |
Het |
| Tmcc2 |
TTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGC |
1: 132,285,493 (GRCm39) |
|
probably benign |
Het |
| Tor1aip2 |
T |
C |
1: 155,940,483 (GRCm39) |
V263A |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,813,733 (GRCm39) |
E380G |
probably damaging |
Het |
| Usp16 |
C |
T |
16: 87,271,536 (GRCm39) |
T364M |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
| Zfp110 |
A |
G |
7: 12,580,721 (GRCm39) |
|
probably null |
Het |
| Zfp335 |
G |
A |
2: 164,738,043 (GRCm39) |
A856V |
probably benign |
Het |
| Zfp652 |
G |
A |
11: 95,640,608 (GRCm39) |
E178K |
possibly 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 |
|
|
IGL02479:Dync1i2
|
APN |
2 |
71,066,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGATGGCAGTGATGAGCCTCC -3'
(R):5'- TGGCTGCACTGGCAAAACTAGAAC -3'
Sequencing Primer
(F):5'- GCAGTGATGAGCCTCCTATAC -3'
(R):5'- gtagctcagtgcctgcc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation