Incidental Mutation 'R8187:Dync1i2'
| ID |
634901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i2
|
| Ensembl Gene |
ENSMUSG00000027012 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 2 |
| Synonyms |
3110079H08Rik, Dncic2 |
| MMRRC Submission |
067610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R8187 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71042050-71093647 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 71044865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 25
(K25R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107770
(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: K25R
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080410
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: K25R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000097605
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: K25R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107764
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: K25R
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000107766
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: ENSMUST00000112139
AA Change: K25R
PolyPhen 2
Score 0.718 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107767
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: K25R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107768
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: K25R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107770
Gene: ENSMUSG00000027012
AA Change: K25R
| 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: K25R
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107772
Gene: ENSMUSG00000027012
AA Change: K25R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (57/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110009E18Rik |
A |
T |
1: 120,115,913 (GRCm39) |
*122L |
probably null |
Het |
| 4930438A08Rik |
A |
G |
11: 58,180,548 (GRCm39) |
S200G |
|
Het |
| Adgre1 |
T |
A |
17: 57,727,349 (GRCm39) |
S426R |
probably benign |
Het |
| Adgrg1 |
A |
G |
8: 95,732,446 (GRCm39) |
E229G |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef39 |
A |
T |
4: 43,498,999 (GRCm39) |
L84Q |
probably damaging |
Het |
| Bpifb9a |
A |
G |
2: 154,111,377 (GRCm39) |
I544V |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,803,934 (GRCm39) |
L2079I |
probably damaging |
Het |
| Ccnh |
T |
A |
13: 85,337,656 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,344,870 (GRCm39) |
N415S |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,079,551 (GRCm39) |
N317D |
probably benign |
Het |
| Cnot10 |
A |
T |
9: 114,426,556 (GRCm39) |
C665* |
probably null |
Het |
| Csmd1 |
G |
T |
8: 16,177,188 (GRCm39) |
H1358Q |
probably damaging |
Het |
| Cyp4f37 |
T |
C |
17: 32,854,171 (GRCm39) |
V540A |
probably benign |
Het |
| Daam1 |
A |
G |
12: 71,942,602 (GRCm39) |
D22G |
unknown |
Het |
| Dhdds |
A |
G |
4: 133,727,679 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,384,355 (GRCm39) |
V3033A |
probably damaging |
Het |
| Efhc1 |
T |
A |
1: 21,030,396 (GRCm39) |
S110T |
probably damaging |
Het |
| Emilin3 |
T |
C |
2: 160,750,000 (GRCm39) |
N583S |
possibly damaging |
Het |
| Eri2 |
A |
G |
7: 119,384,767 (GRCm39) |
V578A |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,911 (GRCm39) |
I319L |
probably benign |
Het |
| Gjd3 |
A |
C |
11: 102,691,381 (GRCm39) |
Y207* |
probably null |
Het |
| Gm19965 |
T |
A |
1: 116,749,532 (GRCm39) |
C404* |
probably null |
Het |
| Gm2832 |
A |
T |
14: 41,000,915 (GRCm39) |
H51L |
|
Het |
| Gpam |
T |
C |
19: 55,066,269 (GRCm39) |
T631A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,864,132 (GRCm39) |
S114P |
probably damaging |
Het |
| Hsd3b1 |
T |
A |
3: 98,759,933 (GRCm39) |
T353S |
probably damaging |
Het |
| Idh1 |
T |
C |
1: 65,198,700 (GRCm39) |
D390G |
probably damaging |
Het |
| Il36g |
T |
G |
2: 24,082,617 (GRCm39) |
L131V |
probably damaging |
Het |
| Irs1 |
G |
T |
1: 82,266,021 (GRCm39) |
P732T |
probably damaging |
Het |
| Kansl1l |
T |
A |
1: 66,840,896 (GRCm39) |
I135F |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,667,327 (GRCm39) |
V208A |
possibly damaging |
Het |
| Mgrn1 |
A |
G |
16: 4,738,229 (GRCm39) |
N261S |
probably benign |
Het |
| Mybpc2 |
T |
A |
7: 44,161,894 (GRCm39) |
N519Y |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nr1h5 |
G |
T |
3: 102,861,986 (GRCm39) |
H94Q |
probably benign |
Het |
| Nsmce4a |
A |
G |
7: 130,144,519 (GRCm39) |
V128A |
probably benign |
Het |
| Or5w14 |
T |
G |
2: 87,541,624 (GRCm39) |
S209R |
probably benign |
Het |
| Or6y1 |
TTGTGTG |
TTGTG |
1: 174,276,838 (GRCm39) |
|
probably null |
Het |
| Osmr |
T |
A |
15: 6,850,485 (GRCm39) |
Y707F |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,033 (GRCm39) |
R225L |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,191,708 (GRCm39) |
L354Q |
probably damaging |
Het |
| Rev3l |
C |
A |
10: 39,682,693 (GRCm39) |
Q300K |
probably benign |
Het |
| Rin3 |
T |
A |
12: 102,292,066 (GRCm39) |
C88S |
unknown |
Het |
| Slc37a4 |
T |
C |
9: 44,311,291 (GRCm39) |
V194A |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,446,999 (GRCm39) |
H242Q |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,200,216 (GRCm39) |
I2804V |
possibly damaging |
Het |
| Srrm4 |
A |
C |
5: 116,587,680 (GRCm39) |
F359L |
unknown |
Het |
| Svs5 |
A |
G |
2: 164,079,692 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Tmem158 |
T |
A |
9: 123,088,875 (GRCm39) |
T246S |
unknown |
Het |
| Ttn |
A |
G |
2: 76,633,735 (GRCm39) |
V14038A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,559,790 (GRCm39) |
I29537T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,626,069 (GRCm39) |
S14997P |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,893 (GRCm39) |
D7E |
probably benign |
Het |
| Vmn2r14 |
A |
G |
5: 109,368,420 (GRCm39) |
S191P |
probably benign |
Het |
| Zfp599 |
G |
T |
9: 22,161,111 (GRCm39) |
Y351* |
probably null |
Het |
| Zfp729a |
T |
A |
13: 67,769,918 (GRCm39) |
K104* |
probably null |
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 |
|
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 |
|
|
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'- GAAATTCTTAGCTTCTTGGTACACC -3'
(R):5'- ACATCACCCTGGACCAGTTTC -3'
Sequencing Primer
(F):5'- AGCTTCTTGGTACACCTCTTGAAG -3'
(R):5'- ATCTTCGTACACCTGCCTTCAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation