Incidental Mutation 'R9242:Dync1i1'
| ID |
701038 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync1i1
|
| Ensembl Gene |
ENSMUSG00000029757 |
| Gene Name |
dynein cytoplasmic 1 intermediate chain 1 |
| Synonyms |
DIC, IC74, Dncic1 |
| MMRRC Submission |
068988-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.854)
|
| Stock # |
R9242 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
5725772-6028030 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5769706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 77
(T77A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115554]
[ENSMUST00000115555]
[ENSMUST00000115556]
[ENSMUST00000115559]
[ENSMUST00000153942]
|
| AlphaFold |
O88485 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115554
AA Change: T77A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111216
Gene: ENSMUSG00000029757
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
105 |
137 |
3.1e-20 |
PFAM |
|
low complexity region
|
143 |
150 |
N/A |
INTRINSIC |
|
Blast:WD40
|
235 |
288 |
2e-26 |
BLAST |
|
WD40
|
293 |
332 |
9.6e-2 |
SMART |
|
WD40
|
339 |
382 |
8.91e-1 |
SMART |
|
WD40
|
436 |
481 |
4.48e-2 |
SMART |
|
WD40
|
484 |
524 |
6.19e-1 |
SMART |
|
WD40
|
529 |
569 |
7.67e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115555
AA Change: T94A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111217
Gene: ENSMUSG00000029757
AA Change: T94A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
143 |
173 |
6.9e-18 |
PFAM |
|
low complexity region
|
180 |
187 |
N/A |
INTRINSIC |
|
Blast:WD40
|
272 |
325 |
4e-26 |
BLAST |
|
WD40
|
330 |
369 |
9.6e-2 |
SMART |
|
WD40
|
376 |
419 |
8.91e-1 |
SMART |
|
WD40
|
473 |
518 |
4.48e-2 |
SMART |
|
WD40
|
521 |
561 |
6.19e-1 |
SMART |
|
WD40
|
566 |
606 |
7.67e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115556
|
| SMART Domains |
Protein: ENSMUSP00000111218
Gene: ENSMUSG00000029757
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
114 |
146 |
9.2e-21 |
PFAM |
|
low complexity region
|
152 |
159 |
N/A |
INTRINSIC |
|
Blast:WD40
|
245 |
297 |
3e-26 |
BLAST |
|
WD40
|
302 |
341 |
9.6e-2 |
SMART |
|
WD40
|
348 |
391 |
8.91e-1 |
SMART |
|
WD40
|
445 |
490 |
4.48e-2 |
SMART |
|
WD40
|
493 |
533 |
6.19e-1 |
SMART |
|
WD40
|
538 |
578 |
7.67e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115559
AA Change: T77A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111221
Gene: ENSMUSG00000029757
AA Change: T77A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
Pfam:Dynein_IC2
|
125 |
157 |
2e-20 |
PFAM |
|
low complexity region
|
163 |
170 |
N/A |
INTRINSIC |
|
Blast:WD40
|
256 |
308 |
3e-26 |
BLAST |
|
WD40
|
313 |
352 |
9.6e-2 |
SMART |
|
WD40
|
359 |
402 |
8.91e-1 |
SMART |
|
WD40
|
456 |
501 |
4.48e-2 |
SMART |
|
WD40
|
504 |
544 |
6.19e-1 |
SMART |
|
WD40
|
549 |
589 |
7.67e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153942
|
| SMART Domains |
Protein: ENSMUSP00000121787
Gene: ENSMUSG00000029757
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
45 |
91 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204149
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
C |
A |
5: 8,949,677 (GRCm39) |
T79K |
probably damaging |
Het |
| Ackr3 |
G |
T |
1: 90,142,558 (GRCm39) |
G339V |
probably damaging |
Het |
| Agpat4 |
G |
T |
17: 12,429,186 (GRCm39) |
R146L |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 102,998,936 (GRCm39) |
R364C |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,645,660 (GRCm39) |
T507A |
probably benign |
Het |
| Cand2 |
C |
G |
6: 115,768,923 (GRCm39) |
R578G |
probably benign |
Het |
| Capg |
C |
T |
6: 72,532,869 (GRCm39) |
P111L |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,494,350 (GRCm39) |
T289I |
probably damaging |
Het |
| Ccr6 |
A |
G |
17: 8,474,965 (GRCm39) |
I57V |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,255,583 (GRCm39) |
I434V |
possibly damaging |
Het |
| Chrdl2 |
C |
T |
7: 99,655,743 (GRCm39) |
|
probably benign |
Het |
| Cntnap5a |
A |
G |
1: 116,220,109 (GRCm39) |
T640A |
probably benign |
Het |
| Ctsd |
T |
C |
7: 141,937,280 (GRCm39) |
|
probably null |
Het |
| D17H6S53E |
G |
T |
17: 35,346,536 (GRCm39) |
R149L |
possibly damaging |
Het |
| Emc2 |
T |
C |
15: 43,358,639 (GRCm39) |
M100T |
probably benign |
Het |
| Esrra |
A |
G |
19: 6,889,863 (GRCm39) |
V290A |
probably benign |
Het |
| Fbl |
T |
C |
7: 27,876,620 (GRCm39) |
I207T |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,420,375 (GRCm39) |
N314I |
possibly damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,354 (GRCm39) |
D175V |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,448,806 (GRCm39) |
M1840I |
probably benign |
Het |
| Helz |
T |
C |
11: 107,523,153 (GRCm39) |
L779P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,289,064 (GRCm39) |
N331I |
probably damaging |
Het |
| Inmt |
C |
T |
6: 55,150,270 (GRCm39) |
|
probably null |
Het |
| Inpp5a |
C |
T |
7: 139,061,634 (GRCm39) |
T102M |
probably damaging |
Het |
| Lamc3 |
A |
G |
2: 31,788,323 (GRCm39) |
Y161C |
probably benign |
Het |
| Lpin2 |
A |
G |
17: 71,553,966 (GRCm39) |
*932W |
probably null |
Het |
| Lrp3 |
C |
T |
7: 34,901,934 (GRCm39) |
R649H |
probably benign |
Het |
| Madd |
G |
A |
2: 90,973,949 (GRCm39) |
T1464I |
probably damaging |
Het |
| Nceh1 |
C |
A |
3: 27,293,777 (GRCm39) |
Y178* |
probably null |
Het |
| Or5ae2 |
A |
T |
7: 84,506,086 (GRCm39) |
K172* |
probably null |
Het |
| Or5b96 |
T |
A |
19: 12,867,989 (GRCm39) |
|
probably benign |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd4 |
A |
T |
17: 42,627,604 (GRCm39) |
R22* |
probably null |
Het |
| Ptpru |
C |
T |
4: 131,530,341 (GRCm39) |
G560S |
probably damaging |
Het |
| Ralgapb |
G |
T |
2: 158,277,386 (GRCm39) |
R250L |
probably benign |
Het |
| Rcor1 |
T |
A |
12: 111,076,228 (GRCm39) |
Y395* |
probably null |
Het |
| Slc35f6 |
G |
T |
5: 30,805,410 (GRCm39) |
|
probably benign |
Het |
| Slc40a1 |
A |
G |
1: 45,950,129 (GRCm39) |
V441A |
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,295,228 (GRCm39) |
F77Y |
probably damaging |
Het |
| Slc6a15 |
T |
A |
10: 103,229,406 (GRCm39) |
C148* |
probably null |
Het |
| Sox10 |
T |
C |
15: 79,040,640 (GRCm39) |
Y300C |
probably damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,383 (GRCm39) |
|
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,537 (GRCm39) |
V122A |
probably benign |
Het |
| Tpi1 |
T |
C |
6: 124,791,138 (GRCm39) |
Q33R |
probably benign |
Het |
| Unk |
T |
C |
11: 115,940,184 (GRCm39) |
V179A |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,365,787 (GRCm39) |
G2214C |
probably damaging |
Het |
| Vmn1r159 |
T |
A |
7: 22,542,912 (GRCm39) |
Y40F |
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,192,748 (GRCm39) |
V144A |
probably benign |
Het |
| Wdpcp |
A |
G |
11: 21,835,040 (GRCm39) |
E681G |
probably benign |
Het |
|
| Other mutations in Dync1i1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00468:Dync1i1
|
APN |
6 |
5,972,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01816:Dync1i1
|
APN |
6 |
5,767,146 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02171:Dync1i1
|
APN |
6 |
5,969,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02646:Dync1i1
|
APN |
6 |
5,767,034 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02672:Dync1i1
|
APN |
6 |
5,767,034 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02691:Dync1i1
|
APN |
6 |
5,800,767 (GRCm39) |
splice site |
probably benign |
|
|
IGL02880:Dync1i1
|
APN |
6 |
5,966,821 (GRCm39) |
splice site |
probably null |
|
|
IGL02796:Dync1i1
|
UTSW |
6 |
5,757,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0519:Dync1i1
|
UTSW |
6 |
6,027,399 (GRCm39) |
missense |
probably benign |
|
|
R1404:Dync1i1
|
UTSW |
6 |
5,915,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Dync1i1
|
UTSW |
6 |
5,915,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Dync1i1
|
UTSW |
6 |
5,769,799 (GRCm39) |
splice site |
probably benign |
|
|
R2119:Dync1i1
|
UTSW |
6 |
5,767,096 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3177:Dync1i1
|
UTSW |
6 |
5,972,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3277:Dync1i1
|
UTSW |
6 |
5,972,211 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4028:Dync1i1
|
UTSW |
6 |
5,961,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4058:Dync1i1
|
UTSW |
6 |
5,769,764 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4551:Dync1i1
|
UTSW |
6 |
5,923,206 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4748:Dync1i1
|
UTSW |
6 |
5,767,048 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5263:Dync1i1
|
UTSW |
6 |
5,969,446 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6193:Dync1i1
|
UTSW |
6 |
5,730,679 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6280:Dync1i1
|
UTSW |
6 |
5,972,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6933:Dync1i1
|
UTSW |
6 |
5,913,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Dync1i1
|
UTSW |
6 |
5,969,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7347:Dync1i1
|
UTSW |
6 |
5,784,530 (GRCm39) |
makesense |
probably null |
|
|
R7512:Dync1i1
|
UTSW |
6 |
5,969,410 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7543:Dync1i1
|
UTSW |
6 |
5,784,464 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7601:Dync1i1
|
UTSW |
6 |
5,905,129 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8349:Dync1i1
|
UTSW |
6 |
5,966,815 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8449:Dync1i1
|
UTSW |
6 |
5,966,815 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8518:Dync1i1
|
UTSW |
6 |
5,913,330 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8766:Dync1i1
|
UTSW |
6 |
5,767,142 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R9253:Dync1i1
|
UTSW |
6 |
5,769,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9375:Dync1i1
|
UTSW |
6 |
5,913,443 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0010:Dync1i1
|
UTSW |
6 |
5,972,141 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Dync1i1
|
UTSW |
6 |
5,767,057 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGGACATGACCTTGGACTC -3'
(R):5'- AGGATATAATGGGCGCATGC -3'
Sequencing Primer
(F):5'- GGACATGACCTTGGACTCCCTAAG -3'
(R):5'- GCATGCACATCCAAAGGTATTTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation