Incidental Mutation 'R5711:Dync1i2'
| ID |
452199 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i2
|
| Ensembl Gene |
ENSMUSG00000027012 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
| Synonyms |
3110079H08Rik, Dncic2 |
| MMRRC Submission |
043185-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R5711 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71081326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 511
(T511I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107764
(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: T485I
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: T485I
| 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: T505I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: T505I
| 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: T511I
PolyPhen 2
Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: T511I
| 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: T485I
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: T485I
| 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
AA Change: T485I
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: T485I
| 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: T511I
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: T511I
| 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: T505I
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: T505I
| 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: T511I
PolyPhen 2
Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: T511I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
A |
T |
13: 100,790,722 (GRCm39) |
T18S |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgap19 |
A |
G |
19: 41,773,227 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cebpz |
T |
A |
17: 79,242,040 (GRCm39) |
Q538L |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,634,618 (GRCm39) |
I187F |
probably benign |
Het |
| Cldn1 |
C |
A |
16: 26,190,167 (GRCm39) |
L70F |
probably damaging |
Het |
| Crybg2 |
A |
T |
4: 133,809,938 (GRCm39) |
D1230V |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,003,703 (GRCm39) |
C2617Y |
probably damaging |
Het |
| D7Ertd443e |
T |
A |
7: 133,951,110 (GRCm39) |
N188Y |
probably benign |
Het |
| Ddx51 |
A |
G |
5: 110,802,790 (GRCm39) |
I214M |
probably benign |
Het |
| Dlg5 |
A |
G |
14: 24,200,716 (GRCm39) |
V1328A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,326,216 (GRCm39) |
C3639Y |
probably damaging |
Het |
| Fam220a |
A |
T |
5: 143,549,212 (GRCm39) |
E208V |
probably damaging |
Het |
| Gm4846 |
T |
C |
1: 166,311,594 (GRCm39) |
S422G |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,141,115 (GRCm39) |
R1001Q |
probably benign |
Het |
| H2-T3 |
T |
C |
17: 36,498,301 (GRCm39) |
E248G |
probably damaging |
Het |
| Idi2 |
T |
C |
13: 9,008,518 (GRCm39) |
V92A |
probably benign |
Het |
| Iqcd |
C |
T |
5: 120,740,571 (GRCm39) |
Q301* |
probably null |
Het |
| Klhl26 |
T |
C |
8: 70,904,974 (GRCm39) |
D278G |
probably damaging |
Het |
| Mok |
G |
T |
12: 110,774,503 (GRCm39) |
T228K |
probably damaging |
Het |
| Or1e22 |
A |
G |
11: 73,377,008 (GRCm39) |
I214T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pabpc1 |
T |
C |
15: 36,606,074 (GRCm39) |
I101V |
probably benign |
Het |
| Ppargc1a |
G |
T |
5: 51,631,562 (GRCm39) |
Q356K |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,652,524 (GRCm39) |
D608V |
probably damaging |
Het |
| Rxfp1 |
C |
T |
3: 79,586,054 (GRCm39) |
C96Y |
probably damaging |
Het |
| Scn11a |
A |
C |
9: 119,618,990 (GRCm39) |
V784G |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,458,723 (GRCm39) |
S366P |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,410,679 (GRCm39) |
Y226C |
probably damaging |
Het |
| Slc25a33 |
A |
G |
4: 149,846,914 (GRCm39) |
V49A |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,451 (GRCm39) |
S140P |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Spty2d1 |
G |
T |
7: 46,647,845 (GRCm39) |
N361K |
possibly damaging |
Het |
| Stk4 |
G |
A |
2: 163,941,674 (GRCm39) |
A297T |
probably benign |
Het |
| Thsd7b |
T |
A |
1: 129,688,139 (GRCm39) |
N683K |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,299,829 (GRCm39) |
E141G |
probably benign |
Het |
| Tmem125 |
A |
T |
4: 118,399,216 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,572,437 (GRCm39) |
T26152K |
probably damaging |
Het |
| Uhrf1 |
G |
A |
17: 56,627,259 (GRCm39) |
G643D |
possibly damaging |
Het |
| Vmn2r50 |
C |
T |
7: 9,774,299 (GRCm39) |
M532I |
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 |
|
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 |
|
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'- CCAAGAGAGGTCCCTAACATG -3'
(R):5'- CAGAGTAAACAGATCTTTGCTTGAG -3'
Sequencing Primer
(F):5'- GAGAGGTCCCTAACATGTTCAC -3'
(R):5'- GGAGGAAGCCTACTCTTCAACTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation