Incidental Mutation 'R3916:Dync1i2'
ID |
309724 |
Institutional Source |
Beutler Lab
|
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 # |
R3916 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71079716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 377
(T377A)
|
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 |
possibly damaging
Transcript: ENSMUST00000081710
AA Change: T377A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000080410 Gene: ENSMUSG00000027012 AA Change: T377A
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 |
possibly damaging
Transcript: ENSMUST00000100028
AA Change: T397A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000097605 Gene: ENSMUSG00000027012 AA Change: T397A
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 |
possibly damaging
Transcript: ENSMUST00000112136
AA Change: T403A
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107764 Gene: ENSMUSG00000027012 AA Change: T403A
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 |
possibly damaging
Transcript: ENSMUST00000112138
AA Change: T377A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107766 Gene: ENSMUSG00000027012 AA Change: T377A
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: T377A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000107767 Gene: ENSMUSG00000027012 AA Change: T377A
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 |
possibly damaging
Transcript: ENSMUST00000112140
AA Change: T403A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107768 Gene: ENSMUSG00000027012 AA Change: T403A
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 |
possibly damaging
Transcript: ENSMUST00000112142
AA Change: T397A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107770 Gene: ENSMUSG00000027012 AA Change: T397A
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 |
possibly damaging
Transcript: ENSMUST00000112144
AA Change: T403A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000107772 Gene: ENSMUSG00000027012 AA Change: T403A
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: 97.4%
- 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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
T |
G |
2: 68,562,329 (GRCm39) |
F319V |
possibly damaging |
Het |
Acad12 |
A |
G |
5: 121,737,277 (GRCm39) |
V498A |
probably damaging |
Het |
Adam19 |
A |
G |
11: 45,951,762 (GRCm39) |
E37G |
probably benign |
Het |
Anks3 |
A |
G |
16: 4,765,143 (GRCm39) |
Y423H |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,259,668 (GRCm39) |
V600D |
probably benign |
Het |
Arhgef18 |
T |
C |
8: 3,504,197 (GRCm39) |
F939L |
probably benign |
Het |
Arhgef2 |
A |
G |
3: 88,540,340 (GRCm39) |
N127S |
probably damaging |
Het |
Arid1b |
A |
G |
17: 5,392,928 (GRCm39) |
S2100G |
probably benign |
Het |
Atp1b2 |
A |
G |
11: 69,493,901 (GRCm39) |
V93A |
probably damaging |
Het |
Atrnl1 |
T |
C |
19: 57,924,084 (GRCm39) |
V1283A |
possibly damaging |
Het |
Bpifb5 |
A |
C |
2: 154,070,101 (GRCm39) |
K184Q |
probably benign |
Het |
Cadps |
C |
T |
14: 12,457,702 (GRCm38) |
A1060T |
probably benign |
Het |
Cant1 |
A |
G |
11: 118,299,572 (GRCm39) |
V259A |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,076,033 (GRCm39) |
D81G |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Cntnap4 |
C |
G |
8: 113,602,165 (GRCm39) |
P1190A |
probably benign |
Het |
Colgalt2 |
T |
A |
1: 152,384,362 (GRCm39) |
Y567* |
probably null |
Het |
Cyp4f18 |
A |
T |
8: 72,749,881 (GRCm39) |
F256Y |
probably benign |
Het |
Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,403,186 (GRCm39) |
R1462H |
probably damaging |
Het |
F2 |
G |
A |
2: 91,455,833 (GRCm39) |
T600M |
probably damaging |
Het |
Fam91a1 |
C |
T |
15: 58,302,583 (GRCm39) |
H308Y |
probably damaging |
Het |
Fkbp2 |
C |
A |
19: 6,955,925 (GRCm39) |
|
probably null |
Het |
Gabarapl2 |
T |
A |
8: 112,679,028 (GRCm39) |
F115L |
probably benign |
Het |
Heatr3 |
T |
G |
8: 88,876,999 (GRCm39) |
|
probably null |
Het |
Ifi204 |
T |
G |
1: 173,583,341 (GRCm39) |
K292N |
possibly damaging |
Het |
Itpkc |
A |
T |
7: 26,927,728 (GRCm39) |
I62N |
probably benign |
Het |
Kcnab1 |
G |
A |
3: 65,211,585 (GRCm39) |
|
probably null |
Het |
Krt88 |
G |
A |
15: 101,350,809 (GRCm39) |
|
probably null |
Het |
Larp4 |
C |
T |
15: 99,888,284 (GRCm39) |
T107I |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,166,778 (GRCm39) |
|
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,346,344 (GRCm39) |
Y3174C |
possibly damaging |
Het |
Lyzl4 |
T |
A |
9: 121,412,101 (GRCm39) |
D105V |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,961,494 (GRCm39) |
I575V |
probably benign |
Het |
Myh7 |
C |
A |
14: 55,211,503 (GRCm39) |
E1555D |
probably damaging |
Het |
Nwd1 |
T |
A |
8: 73,394,439 (GRCm39) |
C608* |
probably null |
Het |
Obox3 |
C |
A |
7: 15,361,151 (GRCm39) |
C38F |
probably benign |
Het |
P4ha2 |
A |
G |
11: 54,017,074 (GRCm39) |
D441G |
probably benign |
Het |
Pcdhb14 |
A |
T |
18: 37,581,598 (GRCm39) |
I235F |
possibly damaging |
Het |
Rasgrf2 |
A |
G |
13: 92,167,296 (GRCm39) |
V259A |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,107,957 (GRCm39) |
T1590A |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 142,036,999 (GRCm39) |
D817E |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,477,657 (GRCm39) |
F482S |
probably damaging |
Het |
Slc35a5 |
G |
C |
16: 44,978,521 (GRCm39) |
|
probably benign |
Het |
Slc6a3 |
A |
G |
13: 73,710,427 (GRCm39) |
I346V |
probably benign |
Het |
Slu7 |
G |
T |
11: 43,331,511 (GRCm39) |
|
probably null |
Het |
Spns1 |
A |
T |
7: 125,970,711 (GRCm39) |
|
probably null |
Het |
Supv3l1 |
T |
C |
10: 62,285,199 (GRCm39) |
D89G |
possibly damaging |
Het |
Taf1c |
G |
A |
8: 120,327,244 (GRCm39) |
R412W |
probably damaging |
Het |
Tctn3 |
T |
A |
19: 40,596,093 (GRCm39) |
T305S |
possibly damaging |
Het |
Tekt1 |
A |
G |
11: 72,236,574 (GRCm39) |
I296T |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,191,816 (GRCm39) |
K873E |
possibly damaging |
Het |
Thada |
G |
A |
17: 84,749,210 (GRCm39) |
A587V |
possibly damaging |
Het |
Tmprss15 |
T |
A |
16: 78,782,884 (GRCm39) |
N712Y |
probably damaging |
Het |
Tnks |
A |
G |
8: 35,320,515 (GRCm39) |
S719P |
probably damaging |
Het |
Tnrc6a |
A |
C |
7: 122,780,607 (GRCm39) |
Q1332H |
probably damaging |
Het |
Trpv3 |
A |
G |
11: 73,174,560 (GRCm39) |
D309G |
possibly damaging |
Het |
Tti2 |
A |
G |
8: 31,643,547 (GRCm39) |
K221E |
possibly damaging |
Het |
Uba5 |
A |
T |
9: 103,931,389 (GRCm39) |
C227S |
probably damaging |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,716,654 (GRCm39) |
C2925R |
probably benign |
Het |
Vmn2r83 |
G |
A |
10: 79,314,744 (GRCm39) |
G331R |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,341,766 (GRCm39) |
V1336F |
probably benign |
Het |
Zbed5 |
T |
C |
5: 129,931,118 (GRCm39) |
Y356H |
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 |
|
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'- AGCTGGCAGGTTAACAAACC -3'
(R):5'- ACCAACTCCATGCTATCCTAGAGG -3'
Sequencing Primer
(F):5'- CTGTTTTGATAGGAATTGGAATACCC -3'
(R):5'- CCTCAGTTAAATGAAAAAGCTTTGG -3'
|
Posted On |
2015-04-17 |