Incidental Mutation 'R6450:Dync2i1'
ID |
519371 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
044586-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6450 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 116210347 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 314
(Y314*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
AlphaFold |
Q8C761 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039349
AA Change: Y314*
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: Y314*
Domain | Start | End | E-Value | Type |
coiled coil region
|
84 |
122 |
N/A |
INTRINSIC |
low complexity region
|
168 |
193 |
N/A |
INTRINSIC |
low complexity region
|
226 |
242 |
N/A |
INTRINSIC |
coiled coil region
|
280 |
309 |
N/A |
INTRINSIC |
low complexity region
|
319 |
337 |
N/A |
INTRINSIC |
low complexity region
|
439 |
453 |
N/A |
INTRINSIC |
WD40
|
629 |
668 |
2.77e-1 |
SMART |
Blast:WD40
|
694 |
755 |
2e-7 |
BLAST |
WD40
|
846 |
881 |
3.84e0 |
SMART |
WD40
|
884 |
926 |
5.55e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180307
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220761
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223039
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.1%
|
Validation Efficiency |
97% (68/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD) and may facilitate the formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes including cell cycle progression, signal transduction, apoptosis, and gene regulation. The encoded protein contains four WD repeats and may play a role in the formation of cilia. Mutations in this gene have been associated with short-rib polydactyly and Jeune syndromes. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
C |
G |
7: 119,815,449 (GRCm39) |
N232K |
probably benign |
Het |
Acaca |
T |
A |
11: 84,171,294 (GRCm39) |
V5E |
probably damaging |
Het |
Adam18 |
A |
T |
8: 25,119,691 (GRCm39) |
D529E |
probably benign |
Het |
Adgrb3 |
T |
C |
1: 25,459,683 (GRCm39) |
T798A |
probably benign |
Het |
Alyref |
T |
C |
11: 120,486,872 (GRCm39) |
T130A |
probably benign |
Het |
Arhgap24 |
A |
G |
5: 103,044,990 (GRCm39) |
S591G |
probably benign |
Het |
Carmil1 |
C |
T |
13: 24,220,547 (GRCm39) |
G655E |
probably damaging |
Het |
Cdc42bpg |
T |
A |
19: 6,364,518 (GRCm39) |
|
probably null |
Het |
Clec12a |
T |
A |
6: 129,330,366 (GRCm39) |
L48H |
probably damaging |
Het |
Coq2 |
C |
A |
5: 100,809,770 (GRCm39) |
|
probably benign |
Het |
Crb2 |
C |
A |
2: 37,683,838 (GRCm39) |
F1113L |
possibly damaging |
Het |
Ctla4 |
A |
T |
1: 60,951,872 (GRCm39) |
M134L |
probably benign |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Efhb |
A |
G |
17: 53,759,632 (GRCm39) |
V290A |
possibly damaging |
Het |
Epha8 |
T |
C |
4: 136,659,210 (GRCm39) |
N843S |
probably damaging |
Het |
Eva1a |
A |
T |
6: 82,069,086 (GRCm39) |
I138F |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,180,136 (GRCm39) |
I1402F |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,910,466 (GRCm39) |
H1845Q |
possibly damaging |
Het |
Gimap8 |
T |
A |
6: 48,633,385 (GRCm39) |
F401L |
probably benign |
Het |
Gpr162 |
C |
T |
6: 124,838,152 (GRCm39) |
R166Q |
possibly damaging |
Het |
H2ac8 |
A |
G |
13: 23,755,119 (GRCm39) |
V55A |
probably damaging |
Het |
Hdac4 |
G |
A |
1: 91,912,433 (GRCm39) |
P348S |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,251,812 (GRCm39) |
V849A |
probably benign |
Het |
Inpp5b |
T |
A |
4: 124,686,045 (GRCm39) |
N696K |
probably damaging |
Het |
Kdm5d |
G |
T |
Y: 927,056 (GRCm39) |
R598L |
probably damaging |
Homo |
Kidins220 |
T |
C |
12: 25,107,190 (GRCm39) |
S1548P |
probably benign |
Het |
Kif2b |
C |
A |
11: 91,467,192 (GRCm39) |
V364L |
probably damaging |
Het |
Kitl |
A |
G |
10: 99,923,256 (GRCm39) |
M1V |
probably null |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Map6 |
T |
C |
7: 98,917,245 (GRCm39) |
I6T |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,010,941 (GRCm39) |
T768A |
probably damaging |
Het |
Mettl16 |
T |
C |
11: 74,696,164 (GRCm39) |
V335A |
probably benign |
Het |
Mpl |
T |
C |
4: 118,305,897 (GRCm39) |
|
probably null |
Het |
Myo5c |
C |
T |
9: 75,193,860 (GRCm39) |
T1205I |
probably benign |
Het |
Nav2 |
C |
A |
7: 49,244,114 (GRCm39) |
L2114I |
probably damaging |
Het |
Neb |
T |
A |
2: 52,084,481 (GRCm39) |
K5330* |
probably null |
Het |
Nfe2l1 |
C |
T |
11: 96,718,161 (GRCm39) |
E125K |
possibly damaging |
Het |
Onecut3 |
A |
G |
10: 80,331,922 (GRCm39) |
K361E |
probably damaging |
Het |
Or4f47 |
T |
A |
2: 111,972,725 (GRCm39) |
L145* |
probably null |
Het |
Osbpl6 |
A |
G |
2: 76,395,174 (GRCm39) |
N370S |
possibly damaging |
Het |
Otud4 |
T |
A |
8: 80,399,626 (GRCm39) |
M780K |
probably benign |
Het |
P2rx4 |
A |
G |
5: 122,865,304 (GRCm39) |
T310A |
possibly damaging |
Het |
Pcdha11 |
G |
T |
18: 37,146,215 (GRCm39) |
D769Y |
probably damaging |
Het |
Pcgf6 |
C |
T |
19: 47,037,527 (GRCm39) |
R124H |
probably benign |
Het |
Pibf1 |
T |
A |
14: 99,374,646 (GRCm39) |
Y362N |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,360,468 (GRCm39) |
E422G |
probably benign |
Het |
Prmt8 |
T |
C |
6: 127,709,606 (GRCm39) |
I85V |
possibly damaging |
Het |
Prss27 |
A |
T |
17: 24,263,988 (GRCm39) |
K225* |
probably null |
Het |
Rai1 |
A |
T |
11: 60,077,429 (GRCm39) |
T498S |
probably benign |
Het |
Sbf2 |
C |
A |
7: 110,062,070 (GRCm39) |
G23V |
probably damaging |
Het |
Sdha |
C |
T |
13: 74,482,412 (GRCm39) |
|
probably null |
Het |
Sgo2a |
C |
T |
1: 58,042,092 (GRCm39) |
Q140* |
probably null |
Het |
Sh3rf3 |
A |
G |
10: 58,819,966 (GRCm39) |
D259G |
probably damaging |
Het |
Slc27a3 |
C |
A |
3: 90,292,777 (GRCm39) |
D631Y |
probably damaging |
Het |
Slc7a10 |
T |
C |
7: 34,886,015 (GRCm39) |
S37P |
possibly damaging |
Het |
Slco6d1 |
A |
G |
1: 98,349,192 (GRCm39) |
T88A |
probably benign |
Het |
Smad4 |
A |
T |
18: 73,810,817 (GRCm39) |
S56T |
possibly damaging |
Het |
Smarcd1 |
A |
G |
15: 99,605,766 (GRCm39) |
I346V |
possibly damaging |
Het |
Spast |
C |
T |
17: 74,675,835 (GRCm39) |
P260S |
probably benign |
Het |
Spata31f1e |
C |
A |
4: 42,792,489 (GRCm39) |
G548W |
probably damaging |
Het |
Sprr2i |
A |
T |
3: 92,316,017 (GRCm39) |
|
probably benign |
Het |
Sptbn5 |
A |
G |
2: 119,877,616 (GRCm39) |
|
probably benign |
Het |
Taar9 |
A |
T |
10: 23,985,138 (GRCm39) |
Y99N |
probably damaging |
Het |
Trappc10 |
A |
T |
10: 78,045,284 (GRCm39) |
M468K |
possibly damaging |
Het |
Trim66 |
T |
C |
7: 109,059,945 (GRCm39) |
R814G |
probably benign |
Het |
Tspan31 |
A |
G |
10: 126,904,227 (GRCm39) |
C157R |
probably damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,953,498 (GRCm39) |
D554G |
possibly damaging |
Het |
Vmn2r91 |
A |
T |
17: 18,305,527 (GRCm39) |
D70V |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,830,649 (GRCm39) |
G928R |
probably damaging |
Het |
Zfp346 |
G |
T |
13: 55,261,517 (GRCm39) |
K102N |
probably damaging |
Het |
Zmym4 |
G |
A |
4: 126,789,099 (GRCm39) |
P1002S |
probably damaging |
Het |
|
Other mutations in Dync2i1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00586:Dync2i1
|
APN |
12 |
116,205,400 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00668:Dync2i1
|
APN |
12 |
116,221,048 (GRCm39) |
missense |
probably benign |
0.32 |
IGL00914:Dync2i1
|
APN |
12 |
116,196,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01061:Dync2i1
|
APN |
12 |
116,193,324 (GRCm39) |
missense |
probably benign |
0.45 |
IGL01375:Dync2i1
|
APN |
12 |
116,193,296 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01758:Dync2i1
|
APN |
12 |
116,182,418 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL01930:Dync2i1
|
APN |
12 |
116,189,583 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02028:Dync2i1
|
APN |
12 |
116,219,681 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03180:Dync2i1
|
APN |
12 |
116,182,485 (GRCm39) |
missense |
probably benign |
0.07 |
F5770:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
R0153:Dync2i1
|
UTSW |
12 |
116,196,256 (GRCm39) |
missense |
probably benign |
0.01 |
R0265:Dync2i1
|
UTSW |
12 |
116,221,026 (GRCm39) |
splice site |
probably benign |
|
R0364:Dync2i1
|
UTSW |
12 |
116,221,097 (GRCm39) |
splice site |
probably benign |
|
R0601:Dync2i1
|
UTSW |
12 |
116,219,555 (GRCm39) |
missense |
possibly damaging |
0.79 |
R0624:Dync2i1
|
UTSW |
12 |
116,211,910 (GRCm39) |
missense |
probably damaging |
0.98 |
R0755:Dync2i1
|
UTSW |
12 |
116,175,412 (GRCm39) |
missense |
probably benign |
0.01 |
R1023:Dync2i1
|
UTSW |
12 |
116,196,277 (GRCm39) |
missense |
probably damaging |
1.00 |
R1065:Dync2i1
|
UTSW |
12 |
116,219,696 (GRCm39) |
missense |
probably damaging |
0.98 |
R1543:Dync2i1
|
UTSW |
12 |
116,195,404 (GRCm39) |
splice site |
probably benign |
|
R1663:Dync2i1
|
UTSW |
12 |
116,193,230 (GRCm39) |
missense |
probably benign |
0.01 |
R1678:Dync2i1
|
UTSW |
12 |
116,189,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1719:Dync2i1
|
UTSW |
12 |
116,219,532 (GRCm39) |
missense |
probably benign |
|
R1755:Dync2i1
|
UTSW |
12 |
116,189,649 (GRCm39) |
missense |
probably damaging |
0.98 |
R1832:Dync2i1
|
UTSW |
12 |
116,171,363 (GRCm39) |
missense |
probably damaging |
0.99 |
R1918:Dync2i1
|
UTSW |
12 |
116,196,221 (GRCm39) |
missense |
probably damaging |
0.96 |
R2291:Dync2i1
|
UTSW |
12 |
116,193,191 (GRCm39) |
splice site |
probably null |
|
R2444:Dync2i1
|
UTSW |
12 |
116,196,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3419:Dync2i1
|
UTSW |
12 |
116,188,597 (GRCm39) |
missense |
probably benign |
0.05 |
R3699:Dync2i1
|
UTSW |
12 |
116,175,462 (GRCm39) |
nonsense |
probably null |
|
R3700:Dync2i1
|
UTSW |
12 |
116,175,462 (GRCm39) |
nonsense |
probably null |
|
R4445:Dync2i1
|
UTSW |
12 |
116,171,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R4664:Dync2i1
|
UTSW |
12 |
116,219,831 (GRCm39) |
missense |
probably damaging |
0.99 |
R4954:Dync2i1
|
UTSW |
12 |
116,219,645 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Dync2i1
|
UTSW |
12 |
116,177,033 (GRCm39) |
missense |
probably benign |
0.43 |
R5163:Dync2i1
|
UTSW |
12 |
116,219,486 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5341:Dync2i1
|
UTSW |
12 |
116,219,534 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5560:Dync2i1
|
UTSW |
12 |
116,181,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R5870:Dync2i1
|
UTSW |
12 |
116,219,865 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5925:Dync2i1
|
UTSW |
12 |
116,197,014 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6223:Dync2i1
|
UTSW |
12 |
116,221,078 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6364:Dync2i1
|
UTSW |
12 |
116,205,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R6462:Dync2i1
|
UTSW |
12 |
116,193,251 (GRCm39) |
missense |
probably benign |
|
R6751:Dync2i1
|
UTSW |
12 |
116,177,076 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6896:Dync2i1
|
UTSW |
12 |
116,193,291 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6962:Dync2i1
|
UTSW |
12 |
116,175,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Dync2i1
|
UTSW |
12 |
116,175,511 (GRCm39) |
missense |
probably benign |
0.03 |
R7042:Dync2i1
|
UTSW |
12 |
116,218,061 (GRCm39) |
missense |
probably benign |
0.02 |
R7254:Dync2i1
|
UTSW |
12 |
116,226,205 (GRCm39) |
intron |
probably benign |
|
R7567:Dync2i1
|
UTSW |
12 |
116,218,130 (GRCm39) |
splice site |
probably null |
|
R7889:Dync2i1
|
UTSW |
12 |
116,219,559 (GRCm39) |
nonsense |
probably null |
|
R8082:Dync2i1
|
UTSW |
12 |
116,177,127 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8288:Dync2i1
|
UTSW |
12 |
116,177,345 (GRCm39) |
missense |
probably damaging |
1.00 |
R8309:Dync2i1
|
UTSW |
12 |
116,219,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Dync2i1
|
UTSW |
12 |
116,188,610 (GRCm39) |
missense |
probably damaging |
1.00 |
R8683:Dync2i1
|
UTSW |
12 |
116,193,262 (GRCm39) |
missense |
probably benign |
0.03 |
R8699:Dync2i1
|
UTSW |
12 |
116,171,321 (GRCm39) |
missense |
probably benign |
0.01 |
R8782:Dync2i1
|
UTSW |
12 |
116,205,332 (GRCm39) |
missense |
probably damaging |
1.00 |
R8809:Dync2i1
|
UTSW |
12 |
116,193,234 (GRCm39) |
missense |
probably damaging |
0.98 |
R9281:Dync2i1
|
UTSW |
12 |
116,211,677 (GRCm39) |
nonsense |
probably null |
|
R9530:Dync2i1
|
UTSW |
12 |
116,175,411 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9751:Dync2i1
|
UTSW |
12 |
116,205,403 (GRCm39) |
critical splice acceptor site |
probably null |
|
V7581:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
V7582:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
V7583:Dync2i1
|
UTSW |
12 |
116,175,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
X0063:Dync2i1
|
UTSW |
12 |
116,219,489 (GRCm39) |
missense |
probably benign |
|
Z1177:Dync2i1
|
UTSW |
12 |
116,209,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGTGGGAATATAGCAAACTTTG -3'
(R):5'- TGTAGTGTGTTCTTACAAGGGCATC -3'
Sequencing Primer
(F):5'- GCACAGGTAACTACCAGATC -3'
(R):5'- ACAAGGGCATCTCTTAAAATAATCC -3'
|
Posted On |
2018-05-24 |