Incidental Mutation 'R5574:Dync1i2'
ID |
484564 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync1i2
|
Ensembl Gene |
ENSMUSG00000027012 |
Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
Synonyms |
3110079H08Rik, Dncic2 |
MMRRC Submission |
043129-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.967)
|
Stock # |
R5574 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 71063994 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 113
(T113S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107772
(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
|
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
AA Change: T107S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000097605 Gene: ENSMUSG00000027012 AA Change: T107S
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: T113S
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000107764 Gene: ENSMUSG00000027012 AA Change: T113S
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
AA Change: T113S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107768 Gene: ENSMUSG00000027012 AA Change: T113S
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: T107S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000107770 Gene: ENSMUSG00000027012 AA Change: T107S
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: T113S
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000107772 Gene: ENSMUSG00000027012 AA Change: T113S
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: ENSMUST00000149735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141619
|
Meta Mutation Damage Score |
0.0975 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
Validation Efficiency |
99% (68/69) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
A |
14: 59,380,205 (GRCm39) |
N31I |
possibly damaging |
Het |
Acvr1b |
T |
A |
15: 101,099,958 (GRCm39) |
M304K |
probably benign |
Het |
Adamts1 |
G |
T |
16: 85,596,530 (GRCm39) |
D106E |
probably damaging |
Het |
Atosa |
A |
T |
9: 74,917,672 (GRCm39) |
D757V |
probably damaging |
Het |
Blm |
C |
A |
7: 80,149,521 (GRCm39) |
C696F |
probably damaging |
Het |
Bnip3l-ps |
T |
A |
12: 18,267,119 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc171 |
A |
T |
4: 83,611,990 (GRCm39) |
N895I |
probably damaging |
Het |
Cdhr4 |
A |
T |
9: 107,870,527 (GRCm39) |
|
probably benign |
Het |
Cfap97 |
T |
C |
8: 46,623,179 (GRCm39) |
S190P |
probably damaging |
Het |
Chrnb1 |
A |
C |
11: 69,684,509 (GRCm39) |
|
probably benign |
Het |
Clns1a |
A |
G |
7: 97,370,165 (GRCm39) |
|
probably benign |
Het |
Col8a2 |
G |
A |
4: 126,205,061 (GRCm39) |
|
probably benign |
Het |
Cr2 |
T |
A |
1: 194,823,544 (GRCm39) |
E721V |
probably damaging |
Het |
Csk |
A |
G |
9: 57,536,584 (GRCm39) |
V172A |
probably benign |
Het |
Cyp2g1 |
G |
A |
7: 26,520,165 (GRCm39) |
V466M |
possibly damaging |
Het |
Cyp4f13 |
A |
G |
17: 33,148,179 (GRCm39) |
Y349H |
probably benign |
Het |
Dnm1l |
T |
C |
16: 16,147,685 (GRCm39) |
Y205C |
probably damaging |
Het |
Edem2 |
T |
C |
2: 155,558,075 (GRCm39) |
E186G |
probably damaging |
Het |
Eya2 |
G |
A |
2: 165,605,736 (GRCm39) |
R380H |
probably damaging |
Het |
Gldn |
A |
G |
9: 54,220,206 (GRCm39) |
T132A |
probably damaging |
Het |
Gm13941 |
A |
T |
2: 110,930,951 (GRCm39) |
I74K |
unknown |
Het |
Gm3898 |
C |
T |
9: 43,741,339 (GRCm39) |
|
noncoding transcript |
Het |
Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
Klhdc10 |
C |
T |
6: 30,439,864 (GRCm39) |
L127F |
possibly damaging |
Het |
Letm1 |
G |
A |
5: 33,926,730 (GRCm39) |
T189M |
possibly damaging |
Het |
Lrrc17 |
A |
T |
5: 21,775,355 (GRCm39) |
I306F |
possibly damaging |
Het |
Lrrk2 |
T |
A |
15: 91,671,219 (GRCm39) |
V2000E |
probably damaging |
Het |
Mettl9 |
A |
T |
7: 120,647,093 (GRCm39) |
E66D |
probably benign |
Het |
Mroh1 |
T |
A |
15: 76,318,131 (GRCm39) |
V877D |
probably benign |
Het |
Mycbp2 |
C |
T |
14: 103,380,203 (GRCm39) |
V3760M |
possibly damaging |
Het |
Nos3 |
A |
G |
5: 24,573,859 (GRCm39) |
T208A |
possibly damaging |
Het |
Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
Obp2a |
A |
T |
2: 25,590,842 (GRCm39) |
T70S |
possibly damaging |
Het |
Or4a72 |
C |
T |
2: 89,405,321 (GRCm39) |
V250I |
possibly damaging |
Het |
Or52a5b |
T |
G |
7: 103,417,323 (GRCm39) |
I94L |
possibly damaging |
Het |
Or5al6 |
T |
C |
2: 85,976,535 (GRCm39) |
D181G |
probably damaging |
Het |
Or8b8 |
A |
T |
9: 37,808,877 (GRCm39) |
Y59F |
probably damaging |
Het |
Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
Pate2 |
A |
G |
9: 35,597,411 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,280,942 (GRCm39) |
F447L |
probably benign |
Het |
Pias1 |
A |
G |
9: 62,827,775 (GRCm39) |
C211R |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,487,291 (GRCm39) |
S929G |
probably benign |
Het |
Pramel32 |
T |
G |
4: 88,546,280 (GRCm39) |
E354A |
probably benign |
Het |
Prc1 |
G |
A |
7: 79,944,290 (GRCm39) |
|
probably benign |
Het |
Prex2 |
A |
G |
1: 11,210,282 (GRCm39) |
D574G |
probably damaging |
Het |
Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
Rmc1 |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,318,063 (GRCm39) |
|
probably null |
Het |
Rock2 |
T |
C |
12: 17,011,642 (GRCm39) |
M690T |
possibly damaging |
Het |
Sinhcaf |
C |
T |
6: 148,846,378 (GRCm39) |
|
probably benign |
Het |
Slc18a2 |
A |
G |
19: 59,249,837 (GRCm39) |
I25V |
probably benign |
Het |
Slc9a5 |
T |
A |
8: 106,091,323 (GRCm39) |
I701K |
probably benign |
Het |
Sorcs1 |
T |
A |
19: 50,210,571 (GRCm39) |
N765Y |
probably damaging |
Het |
Ssh2 |
A |
T |
11: 77,340,941 (GRCm39) |
I698L |
probably benign |
Het |
Stam |
A |
G |
2: 14,120,675 (GRCm39) |
D58G |
probably damaging |
Het |
Thsd4 |
C |
A |
9: 59,879,683 (GRCm39) |
R1018L |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,929,998 (GRCm39) |
T2911A |
probably benign |
Het |
Trpm7 |
A |
C |
2: 126,654,950 (GRCm39) |
F1329L |
probably benign |
Het |
Ttll9 |
A |
G |
2: 152,826,168 (GRCm39) |
E126G |
possibly damaging |
Het |
Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
Unc45a |
G |
A |
7: 79,984,604 (GRCm39) |
A232V |
probably damaging |
Het |
Utp14b |
G |
A |
1: 78,644,126 (GRCm39) |
V675M |
probably damaging |
Het |
Vmn2r67 |
T |
A |
7: 84,801,099 (GRCm39) |
H279L |
probably benign |
Het |
Vmn2r75 |
G |
T |
7: 85,815,510 (GRCm39) |
A118E |
probably benign |
Het |
Wdr36 |
A |
T |
18: 32,999,012 (GRCm39) |
Q886L |
probably damaging |
Het |
Zfp433 |
T |
A |
10: 81,555,125 (GRCm39) |
Y27* |
probably null |
Het |
Zfp715 |
A |
T |
7: 42,960,463 (GRCm39) |
S43T |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,286,698 (GRCm39) |
S2297P |
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 |
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'- GCATCTTTAACCACCTTGATGC -3'
(R):5'- AAGTAGGGAAACTTATGGTACCTAG -3'
Sequencing Primer
(F):5'- CTTATTGCATTGGAGTTAGACCTAG -3'
(R):5'- CAATGTTAGAAACTACGGCA -3'
|
Posted On |
2017-08-14 |