Incidental Mutation 'R4920:Dync1i2'
| ID |
378500 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i2
|
| Ensembl Gene |
ENSMUSG00000027012 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
| Synonyms |
3110079H08Rik, Dncic2 |
| MMRRC Submission |
042522-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R4920 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71077668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 243
(R243Q)
|
| 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: R243Q
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: R243Q
| 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: R263Q
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: R263Q
| 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: R269Q
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: R269Q
| 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: R243Q
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: R243Q
| 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: R243Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: R243Q
| 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: R269Q
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: R269Q
| 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: R263Q
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: R263Q
| 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: R269Q
PolyPhen 2
Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: R269Q
| 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: ENSMUST00000137683
|
| Meta Mutation Damage Score |
0.1844 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 87.9%
|
| Validation Efficiency |
96% (55/57) |
| 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 |
|---|
| 1700092K14Rik |
A |
T |
11: 114,089,871 (GRCm39) |
|
noncoding transcript |
Het |
| Adcy4 |
C |
T |
14: 56,016,486 (GRCm39) |
D322N |
probably damaging |
Het |
| Apbb1ip |
A |
G |
2: 22,709,696 (GRCm39) |
D51G |
unknown |
Het |
| Bmal1 |
A |
G |
7: 112,884,321 (GRCm39) |
T120A |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,415,785 (GRCm39) |
V783D |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,998,907 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccr9 |
G |
T |
9: 123,608,504 (GRCm39) |
G62V |
probably damaging |
Het |
| Ces2b |
T |
C |
8: 105,563,538 (GRCm39) |
Y422H |
probably benign |
Het |
| Cpa4 |
T |
C |
6: 30,568,462 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
A |
G |
15: 73,412,574 (GRCm39) |
H412R |
probably benign |
Het |
| Dpy19l3 |
A |
T |
7: 35,407,467 (GRCm39) |
|
probably benign |
Het |
| Dtwd2 |
G |
T |
18: 49,831,507 (GRCm39) |
R167S |
possibly damaging |
Het |
| Ear2 |
G |
A |
14: 44,340,582 (GRCm39) |
G80E |
probably damaging |
Het |
| Fam171b |
A |
G |
2: 83,710,703 (GRCm39) |
K792E |
possibly damaging |
Het |
| Fam83b |
G |
A |
9: 76,399,150 (GRCm39) |
T651I |
probably benign |
Het |
| Fcrl5 |
T |
G |
3: 87,351,480 (GRCm39) |
F243V |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,880,807 (GRCm39) |
I115M |
probably damaging |
Het |
| Glrx3 |
A |
G |
7: 137,065,859 (GRCm39) |
D163G |
probably null |
Het |
| Gm14488 |
A |
T |
2: 30,605,044 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
C |
1: 59,666,725 (GRCm39) |
S683P |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| Gsdmd |
T |
C |
15: 75,736,206 (GRCm39) |
S112P |
probably damaging |
Het |
| Ighv14-3 |
A |
G |
12: 114,023,877 (GRCm39) |
V6A |
probably benign |
Het |
| Lca5l |
T |
A |
16: 95,980,035 (GRCm39) |
S32C |
probably damaging |
Het |
| Lrba |
T |
A |
3: 86,571,765 (GRCm39) |
Y260* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,821,645 (GRCm39) |
S1340P |
possibly damaging |
Het |
| Mfsd13a |
T |
G |
19: 46,355,655 (GRCm39) |
F59V |
probably damaging |
Het |
| Nek10 |
T |
A |
14: 14,860,986 (GRCm38) |
L513M |
possibly damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,334 (GRCm39) |
|
probably null |
Het |
| Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,843,930 (GRCm39) |
T571M |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,425,853 (GRCm39) |
D30G |
probably benign |
Het |
| Rfc1 |
C |
A |
5: 65,445,271 (GRCm39) |
V460F |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,608,503 (GRCm39) |
D182G |
probably benign |
Het |
| Sap25 |
T |
A |
5: 137,640,507 (GRCm39) |
|
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,794,878 (GRCm39) |
I480V |
probably benign |
Het |
| Smo |
T |
C |
6: 29,759,593 (GRCm39) |
S642P |
probably damaging |
Het |
| Tbc1d22a |
A |
C |
15: 86,195,949 (GRCm39) |
I307L |
probably benign |
Het |
| Tent2 |
G |
A |
13: 93,322,833 (GRCm39) |
Q39* |
probably null |
Het |
| Ubr3 |
A |
G |
2: 69,783,212 (GRCm39) |
Q716R |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,802,918 (GRCm39) |
E276G |
probably benign |
Het |
| Zfp189 |
G |
A |
4: 49,529,302 (GRCm39) |
C135Y |
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 |
|
|
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 |
|
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'- TGACTACAGTGGGAGAGACTTG -3'
(R):5'- AATGTGACAATGGCAACGTCAG -3'
Sequencing Primer
(F):5'- CTACAGTGGGAGAGACTTGGAAGAC -3'
(R):5'- TGACAATGGCAACGTCAGAAACAC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation