Incidental Mutation 'IGL01609:Dync1i2'
ID |
91923 |
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: 0.967)
|
Stock # |
IGL01609
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 71077352 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]
[ENSMUST00000112144]
[ENSMUST00000112142]
|
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: 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 |
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 |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
A |
G |
18: 61,955,092 (GRCm39) |
V299A |
probably benign |
Het |
Actr5 |
T |
C |
2: 158,478,722 (GRCm39) |
|
probably null |
Het |
Arhgap18 |
A |
G |
10: 26,756,744 (GRCm39) |
D448G |
possibly damaging |
Het |
Bcl9 |
T |
C |
3: 97,116,291 (GRCm39) |
E801G |
probably benign |
Het |
Bin1 |
A |
G |
18: 32,552,978 (GRCm39) |
N232S |
probably damaging |
Het |
Brf1 |
A |
C |
12: 112,927,211 (GRCm39) |
Y459D |
probably damaging |
Het |
Clca4a |
T |
A |
3: 144,659,541 (GRCm39) |
I772F |
probably damaging |
Het |
Cyp2a4 |
G |
A |
7: 26,008,088 (GRCm39) |
|
probably null |
Het |
Frem3 |
T |
A |
8: 81,339,333 (GRCm39) |
M542K |
probably benign |
Het |
Gpbp1 |
T |
C |
13: 111,575,736 (GRCm39) |
T256A |
possibly damaging |
Het |
Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
Igkv3-12 |
A |
G |
6: 70,495,232 (GRCm39) |
|
probably benign |
Het |
Kdm4d |
A |
G |
9: 14,375,714 (GRCm39) |
V48A |
probably damaging |
Het |
Lama2 |
T |
C |
10: 27,220,417 (GRCm39) |
S483G |
probably benign |
Het |
Lbp |
A |
C |
2: 158,170,332 (GRCm39) |
Q464P |
probably damaging |
Het |
Lipo4 |
T |
C |
19: 33,476,654 (GRCm39) |
T365A |
probably benign |
Het |
Mark3 |
T |
C |
12: 111,593,956 (GRCm39) |
F274S |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,884,904 (GRCm39) |
|
probably benign |
Het |
Mrpl9 |
T |
A |
3: 94,352,001 (GRCm39) |
F137I |
probably damaging |
Het |
Msh4 |
G |
T |
3: 153,603,034 (GRCm39) |
A93E |
probably damaging |
Het |
Mthfd1l |
T |
A |
10: 3,968,567 (GRCm39) |
D407E |
probably benign |
Het |
Or10j7 |
G |
A |
1: 173,011,843 (GRCm39) |
H53Y |
probably benign |
Het |
Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
Or1i2 |
A |
C |
10: 78,447,960 (GRCm39) |
S172A |
probably benign |
Het |
Pcsk2 |
G |
T |
2: 143,643,078 (GRCm39) |
V452L |
possibly damaging |
Het |
Pcsk6 |
G |
A |
7: 65,685,021 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
A |
G |
8: 110,254,348 (GRCm39) |
E461G |
probably benign |
Het |
Pole2 |
A |
G |
12: 69,254,631 (GRCm39) |
|
probably null |
Het |
Postn |
T |
C |
3: 54,276,649 (GRCm39) |
M176T |
probably damaging |
Het |
Prss12 |
T |
A |
3: 123,276,483 (GRCm39) |
C371S |
probably damaging |
Het |
Rnf11 |
T |
A |
4: 109,314,173 (GRCm39) |
Q72L |
possibly damaging |
Het |
Rrad |
A |
G |
8: 105,356,456 (GRCm39) |
|
probably null |
Het |
Slitrk3 |
T |
A |
3: 72,957,570 (GRCm39) |
I401F |
probably damaging |
Het |
Themis |
A |
G |
10: 28,544,749 (GRCm39) |
|
probably benign |
Het |
Tmem45a |
A |
G |
16: 56,631,928 (GRCm39) |
I230T |
probably benign |
Het |
Tnni1 |
C |
A |
1: 135,733,234 (GRCm39) |
|
probably null |
Het |
Trpa1 |
A |
T |
1: 14,982,607 (GRCm39) |
I83N |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,221,555 (GRCm39) |
Y54C |
probably damaging |
Het |
Umodl1 |
C |
T |
17: 31,217,800 (GRCm39) |
T1202I |
possibly damaging |
Het |
Unc93a2 |
A |
G |
17: 7,637,138 (GRCm39) |
V130A |
probably damaging |
Het |
Usp37 |
G |
A |
1: 74,514,199 (GRCm39) |
A324V |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,321,023 (GRCm39) |
C751S |
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 |
|
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 |
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 |
2013-12-09 |