Incidental Mutation 'R0015:Dync1i2'
ID |
216010 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync1i2
|
Ensembl Gene |
ENSMUSG00000027012 |
Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
Synonyms |
3110079H08Rik, Dncic2 |
MMRRC Submission |
038310-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R0015 (G1)
|
Quality Score |
32 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 71044828 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 13
(R13S)
|
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 damaging
Transcript: ENSMUST00000081710
AA Change: R13S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080410 Gene: ENSMUSG00000027012 AA Change: R13S
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: ENSMUST00000100028
AA Change: R13S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097605 Gene: ENSMUSG00000027012 AA Change: R13S
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 damaging
Transcript: ENSMUST00000112136
AA Change: R13S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107764 Gene: ENSMUSG00000027012 AA Change: R13S
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 damaging
Transcript: ENSMUST00000112138
AA Change: R13S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107766 Gene: ENSMUSG00000027012 AA Change: R13S
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: R13S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107767 Gene: ENSMUSG00000027012 AA Change: R13S
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 damaging
Transcript: ENSMUST00000112140
AA Change: R13S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107768 Gene: ENSMUSG00000027012 AA Change: R13S
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 damaging
Transcript: ENSMUST00000112144
AA Change: R13S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107772 Gene: ENSMUSG00000027012 AA Change: R13S
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 damaging
Transcript: ENSMUST00000112142
AA Change: R13S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107770 Gene: ENSMUSG00000027012 AA Change: R13S
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: ENSMUST00000149735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141619
|
Meta Mutation Damage Score |
0.1320 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
97% (71/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130050O07Rik |
A |
G |
1: 137,856,394 (GRCm39) |
Y23C |
unknown |
Het |
Adcy3 |
G |
A |
12: 4,245,260 (GRCm39) |
|
probably null |
Het |
Aldh6a1 |
G |
A |
12: 84,488,554 (GRCm39) |
L86F |
probably damaging |
Het |
Arl10 |
G |
T |
13: 54,723,770 (GRCm39) |
|
probably benign |
Het |
Armc3 |
A |
G |
2: 19,301,132 (GRCm39) |
|
probably null |
Het |
Astn2 |
T |
G |
4: 66,184,619 (GRCm39) |
|
probably null |
Het |
Cacna1d |
G |
A |
14: 29,836,928 (GRCm39) |
T804I |
probably benign |
Het |
Ccny |
A |
C |
18: 9,316,682 (GRCm39) |
|
probably benign |
Het |
Cdh5 |
C |
T |
8: 104,867,559 (GRCm39) |
T612I |
probably benign |
Het |
Cfap58 |
A |
G |
19: 48,017,539 (GRCm39) |
M800V |
probably benign |
Het |
Clrn1 |
A |
T |
3: 58,753,848 (GRCm39) |
I171K |
probably damaging |
Het |
Cnp |
T |
A |
11: 100,469,734 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
C |
9: 79,558,667 (GRCm39) |
T1933A |
probably damaging |
Het |
Cplane1 |
G |
A |
15: 8,215,668 (GRCm39) |
R408H |
probably damaging |
Het |
Cwf19l2 |
A |
G |
9: 3,454,666 (GRCm39) |
S660G |
probably benign |
Het |
Eps8l1 |
A |
T |
7: 4,480,556 (GRCm39) |
|
probably benign |
Het |
Espn |
T |
C |
4: 152,223,609 (GRCm39) |
T188A |
possibly damaging |
Het |
F2 |
T |
C |
2: 91,460,952 (GRCm39) |
E260G |
probably benign |
Het |
Fat4 |
T |
A |
3: 39,036,652 (GRCm39) |
S3435T |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,096,012 (GRCm39) |
C533R |
probably benign |
Het |
Fstl5 |
G |
A |
3: 76,229,498 (GRCm39) |
V100M |
probably damaging |
Het |
Gls2 |
T |
G |
10: 128,045,219 (GRCm39) |
L572R |
probably damaging |
Het |
Gm20939 |
A |
T |
17: 95,184,196 (GRCm39) |
E281D |
probably benign |
Het |
Gpr35 |
T |
G |
1: 92,910,954 (GRCm39) |
L222W |
probably damaging |
Het |
Hsf5 |
C |
A |
11: 87,548,161 (GRCm39) |
H615N |
probably benign |
Het |
Id2 |
C |
T |
12: 25,145,802 (GRCm39) |
D70N |
probably damaging |
Het |
Ints2 |
T |
C |
11: 86,140,113 (GRCm39) |
T240A |
probably damaging |
Het |
Kcnn3 |
A |
C |
3: 89,570,080 (GRCm39) |
D631A |
probably damaging |
Het |
Klhdc8a |
A |
G |
1: 132,230,743 (GRCm39) |
T203A |
probably damaging |
Het |
Lama4 |
C |
T |
10: 38,951,432 (GRCm39) |
T1059M |
possibly damaging |
Het |
Lgals8 |
A |
G |
13: 12,462,179 (GRCm39) |
L226P |
probably damaging |
Het |
Lifr |
T |
A |
15: 7,217,667 (GRCm39) |
|
probably null |
Het |
Lonp1 |
T |
A |
17: 56,925,406 (GRCm39) |
Q462L |
probably benign |
Het |
Lypd1 |
A |
G |
1: 125,838,175 (GRCm39) |
V48A |
possibly damaging |
Het |
Mapkapk2 |
A |
G |
1: 131,025,063 (GRCm39) |
I67T |
possibly damaging |
Het |
Mbd3l1 |
A |
T |
9: 18,396,154 (GRCm39) |
D93V |
probably benign |
Het |
Mdh1b |
T |
C |
1: 63,760,959 (GRCm39) |
|
probably benign |
Het |
Myh7b |
C |
T |
2: 155,464,206 (GRCm39) |
P569L |
probably damaging |
Het |
Ncapd3 |
C |
A |
9: 26,963,105 (GRCm39) |
A470E |
probably damaging |
Het |
Ndrg2 |
A |
G |
14: 52,147,902 (GRCm39) |
|
probably benign |
Het |
Nprl2 |
A |
T |
9: 107,421,618 (GRCm39) |
I209F |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,699,057 (GRCm39) |
|
probably benign |
Het |
Olfm2 |
T |
C |
9: 20,580,037 (GRCm39) |
E268G |
probably damaging |
Het |
Or8b37 |
T |
A |
9: 37,958,963 (GRCm39) |
Y148* |
probably null |
Het |
Pcf11 |
T |
A |
7: 92,307,525 (GRCm39) |
H881L |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,196,029 (GRCm39) |
D640G |
probably damaging |
Het |
Pde9a |
G |
A |
17: 31,605,330 (GRCm39) |
|
probably null |
Het |
Pianp |
G |
T |
6: 124,978,503 (GRCm39) |
G236V |
probably damaging |
Het |
Polr2g |
A |
G |
19: 8,771,016 (GRCm39) |
I160T |
probably damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,717,660 (GRCm39) |
S1085P |
possibly damaging |
Het |
Pter |
G |
A |
2: 13,005,811 (GRCm39) |
G328D |
probably damaging |
Het |
Rad51 |
T |
A |
2: 118,946,808 (GRCm39) |
M5K |
probably benign |
Het |
Rbm43 |
T |
A |
2: 51,815,679 (GRCm39) |
I181F |
probably benign |
Het |
Rgs12 |
T |
C |
5: 35,180,120 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
A |
C |
11: 119,332,432 (GRCm39) |
D2547A |
possibly damaging |
Het |
Slc20a2 |
C |
A |
8: 23,025,361 (GRCm39) |
A21E |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,679,481 (GRCm39) |
S2503P |
probably benign |
Het |
Sv2b |
A |
T |
7: 74,775,389 (GRCm39) |
F479L |
probably damaging |
Het |
Sybu |
T |
C |
15: 44,536,896 (GRCm39) |
R349G |
probably damaging |
Het |
Tead3 |
T |
C |
17: 28,560,325 (GRCm39) |
Y2C |
probably damaging |
Het |
Tnrc6c |
T |
A |
11: 117,612,284 (GRCm39) |
N307K |
probably damaging |
Het |
Ubxn11 |
C |
G |
4: 133,843,336 (GRCm39) |
|
probably null |
Het |
Ust |
T |
C |
10: 8,205,829 (GRCm39) |
|
probably benign |
Het |
Vmn2r116 |
T |
A |
17: 23,620,823 (GRCm39) |
N852K |
probably benign |
Het |
Zgrf1 |
T |
C |
3: 127,349,046 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAACAAAACACAGACATCTCTGGTAA -3'
(R):5'- GGGAACTGCACTGGTACTGACGA -3'
Sequencing Primer
(F):5'- gagataggagaatcgccatgag -3'
(R):5'- GACGATATTATGGAATGCCCTGAC -3'
|
Posted On |
2014-07-17 |