Incidental Mutation 'R8682:Dync2i1'
ID |
661830 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i1
|
Ensembl Gene |
ENSMUSG00000042050 |
Gene Name |
dynein 2 intermediate chain 1 |
Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
MMRRC Submission |
068537-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8682 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116188610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 661
(H661Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
|
AlphaFold |
Q8C761 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039349
AA Change: H661Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000047334 Gene: ENSMUSG00000042050 AA Change: H661Q
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.7%
|
Validation Efficiency |
|
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 |
1810065E05Rik |
T |
A |
11: 58,314,725 (GRCm39) |
L141Q |
probably null |
Het |
Abtb2 |
A |
T |
2: 103,397,720 (GRCm39) |
T217S |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,111,328 (GRCm39) |
I873T |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,769,005 (GRCm39) |
M172V |
probably benign |
Het |
Apaf1 |
A |
T |
10: 90,831,532 (GRCm39) |
V1194D |
probably damaging |
Het |
Arhgap30 |
T |
C |
1: 171,234,970 (GRCm39) |
S479P |
probably benign |
Het |
Asah2 |
C |
T |
19: 32,030,277 (GRCm39) |
V132M |
probably damaging |
Het |
Bmp10 |
A |
G |
6: 87,410,541 (GRCm39) |
|
probably null |
Het |
Bsn |
T |
C |
9: 107,983,368 (GRCm39) |
Y790C |
|
Het |
Cacna2d1 |
C |
A |
5: 16,558,837 (GRCm39) |
R732S |
possibly damaging |
Het |
Casr |
A |
T |
16: 36,315,784 (GRCm39) |
F762Y |
possibly damaging |
Het |
Cbln1 |
T |
C |
8: 88,198,735 (GRCm39) |
D45G |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,459,438 (GRCm39) |
M61K |
possibly damaging |
Het |
Cdh11 |
T |
C |
8: 103,377,348 (GRCm39) |
I433V |
probably benign |
Het |
Cdhr5 |
A |
G |
7: 140,855,899 (GRCm39) |
|
probably null |
Het |
Col12a1 |
T |
A |
9: 79,568,358 (GRCm39) |
K1622I |
probably benign |
Het |
Cyp2d9 |
A |
G |
15: 82,337,917 (GRCm39) |
D103G |
probably damaging |
Het |
Eif4a3l1 |
A |
G |
6: 136,306,027 (GRCm39) |
T163A |
possibly damaging |
Het |
Fem1b |
A |
T |
9: 62,704,432 (GRCm39) |
L276* |
probably null |
Het |
Fggy |
T |
A |
4: 95,700,358 (GRCm39) |
V343E |
probably damaging |
Het |
Flt3 |
A |
G |
5: 147,320,265 (GRCm39) |
V33A |
probably benign |
Het |
Grn |
T |
C |
11: 102,325,646 (GRCm39) |
Y288H |
probably benign |
Het |
Grtp1 |
G |
A |
8: 13,229,499 (GRCm39) |
R272W |
probably damaging |
Het |
H2-Aa |
A |
G |
17: 34,502,734 (GRCm39) |
I144T |
possibly damaging |
Het |
Herc1 |
A |
G |
9: 66,370,130 (GRCm39) |
D469G |
|
Het |
Hsf2 |
G |
A |
10: 57,381,267 (GRCm39) |
E286K |
possibly damaging |
Het |
Hydin |
A |
G |
8: 111,035,798 (GRCm39) |
E163G |
probably damaging |
Het |
Il6ra |
A |
G |
3: 89,793,976 (GRCm39) |
I224T |
possibly damaging |
Het |
Itih3 |
T |
A |
14: 30,642,673 (GRCm39) |
I204F |
possibly damaging |
Het |
Kcnj9 |
A |
T |
1: 172,153,680 (GRCm39) |
M148K |
possibly damaging |
Het |
Lepr |
T |
G |
4: 101,649,269 (GRCm39) |
V890G |
probably benign |
Het |
Mslnl |
A |
G |
17: 25,965,962 (GRCm39) |
D612G |
probably benign |
Het |
Myl2 |
T |
A |
5: 122,244,798 (GRCm39) |
V156D |
probably damaging |
Het |
Neb |
C |
A |
2: 52,136,857 (GRCm39) |
W3208L |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,367,295 (GRCm39) |
Y511C |
probably benign |
Het |
Obi1 |
G |
T |
14: 104,717,669 (GRCm39) |
R235S |
probably damaging |
Het |
Obox2 |
C |
A |
7: 15,130,912 (GRCm39) |
T48K |
possibly damaging |
Het |
Or14a259 |
C |
T |
7: 86,013,373 (GRCm39) |
M57I |
probably damaging |
Het |
Or51f2 |
T |
A |
7: 102,526,646 (GRCm39) |
F106L |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Osbpl6 |
C |
G |
2: 76,407,425 (GRCm39) |
H486D |
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,489,144 (GRCm39) |
K264E |
probably benign |
Het |
Phf11 |
G |
A |
14: 59,496,033 (GRCm39) |
T27I |
probably benign |
Het |
Pla2r1 |
T |
A |
2: 60,253,120 (GRCm39) |
T1324S |
possibly damaging |
Het |
Plekhg1 |
A |
T |
10: 3,897,523 (GRCm39) |
Y495F |
|
Het |
Ppp2r5d |
T |
C |
17: 46,997,989 (GRCm39) |
K225E |
probably benign |
Het |
Ptpn11 |
T |
C |
5: 121,306,053 (GRCm39) |
D64G |
possibly damaging |
Het |
Ptprs |
A |
G |
17: 56,742,849 (GRCm39) |
I431T |
probably damaging |
Het |
Rapgef5 |
T |
C |
12: 117,545,432 (GRCm39) |
S100P |
probably benign |
Het |
Shh |
T |
A |
5: 28,663,058 (GRCm39) |
H370L |
probably benign |
Het |
Siah3 |
A |
T |
14: 75,763,043 (GRCm39) |
H98L |
possibly damaging |
Het |
Sim2 |
C |
T |
16: 93,924,192 (GRCm39) |
H446Y |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,993,237 (GRCm39) |
I320T |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,367,398 (GRCm39) |
N221K |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,076,191 (GRCm39) |
S816G |
probably damaging |
Het |
Sphkap |
T |
C |
1: 83,256,997 (GRCm39) |
T251A |
probably benign |
Het |
Stard9 |
T |
C |
2: 120,533,796 (GRCm39) |
V3351A |
possibly damaging |
Het |
Tbc1d15 |
A |
G |
10: 115,046,195 (GRCm39) |
V436A |
probably benign |
Het |
Thsd7b |
A |
T |
1: 129,688,011 (GRCm39) |
K641* |
probably null |
Het |
Tmc5 |
G |
T |
7: 118,269,925 (GRCm39) |
V892F |
possibly damaging |
Het |
Tpsab1 |
T |
A |
17: 25,562,685 (GRCm39) |
H238L |
probably benign |
Het |
Trank1 |
A |
G |
9: 111,194,412 (GRCm39) |
N812S |
probably benign |
Het |
Trio |
T |
A |
15: 27,905,278 (GRCm39) |
N163Y |
unknown |
Het |
Ttc39d |
A |
G |
17: 80,524,693 (GRCm39) |
T451A |
probably benign |
Het |
Ube3b |
T |
C |
5: 114,550,351 (GRCm39) |
L832P |
probably damaging |
Het |
Vmn2r15 |
C |
A |
5: 109,441,938 (GRCm39) |
C165F |
probably damaging |
Het |
Vmn2r90 |
T |
C |
17: 17,932,344 (GRCm39) |
F84L |
possibly damaging |
Het |
Wdr95 |
C |
T |
5: 149,518,752 (GRCm39) |
T531I |
possibly damaging |
Het |
Zcrb1 |
C |
A |
15: 93,284,118 (GRCm39) |
G191V |
probably benign |
Het |
Zfp111 |
G |
A |
7: 23,897,983 (GRCm39) |
P544S |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,576,539 (GRCm39) |
S181G |
probably benign |
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 |
R6450:Dync2i1
|
UTSW |
12 |
116,210,347 (GRCm39) |
nonsense |
probably null |
|
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 |
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'- AGAGTCTGATCTCTTCCTCTGG -3'
(R):5'- AAACTCACACTTGGGCAGTTG -3'
Sequencing Primer
(F):5'- ATCTCTTCCTCTGGATAATCTGAATG -3'
(R):5'- TGTGTTCTACTTAATTGTATCCTGTG -3'
|
Posted On |
2021-03-08 |