Incidental Mutation 'R5341:Dync2i1'
| ID |
422348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i1
|
| Ensembl Gene |
ENSMUSG00000042050 |
| Gene Name |
dynein 2 intermediate chain 1 |
| Synonyms |
Dync2l1, D430033N04Rik, Wdr60 |
| MMRRC Submission |
042920-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5341 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
116169882-116226642 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116219534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 136
(E136G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039349]
[ENSMUST00000222679]
|
| AlphaFold |
Q8C761 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039349
AA Change: E136G
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000047334
Gene: ENSMUSG00000042050
AA Change: E136G
| 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: ENSMUST00000221029
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222679
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223039
|
| Meta Mutation Damage Score |
0.0834 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.2%
|
| Validation Efficiency |
97% (64/66) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
A |
G |
10: 85,223,236 (GRCm39) |
D15G |
unknown |
Het |
| Actr5 |
C |
A |
2: 158,467,144 (GRCm39) |
S28* |
probably null |
Het |
| Adcy1 |
A |
C |
11: 7,080,375 (GRCm39) |
M373L |
probably damaging |
Het |
| Adcyap1r1 |
C |
G |
6: 55,455,054 (GRCm39) |
F111L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 68,113,957 (GRCm39) |
F27I |
possibly damaging |
Het |
| Art5 |
C |
A |
7: 101,747,306 (GRCm39) |
V158L |
probably benign |
Het |
| Bora |
T |
A |
14: 99,305,530 (GRCm39) |
Y300N |
probably damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,288 (GRCm39) |
T99A |
probably damaging |
Het |
| Cdon |
A |
G |
9: 35,381,431 (GRCm39) |
Y607C |
probably damaging |
Het |
| Cenatac |
A |
G |
9: 44,328,406 (GRCm39) |
|
probably null |
Het |
| Cpxm2 |
T |
A |
7: 131,756,342 (GRCm39) |
|
probably benign |
Het |
| Cstdc7 |
A |
G |
18: 42,306,496 (GRCm39) |
D21G |
possibly damaging |
Het |
| Dhx8 |
AGACCGGGACCGGGACCGGGACCGGGAC |
AGACCGGGACCGGGACCGGGAC |
11: 101,629,016 (GRCm39) |
|
probably benign |
Het |
| Enox1 |
A |
C |
14: 77,815,096 (GRCm39) |
T85P |
possibly damaging |
Het |
| Fanci |
T |
C |
7: 79,055,926 (GRCm39) |
L158P |
probably damaging |
Het |
| Gbgt1 |
C |
A |
2: 28,395,019 (GRCm39) |
T219N |
probably damaging |
Het |
| Gulo |
T |
C |
14: 66,225,707 (GRCm39) |
D373G |
probably benign |
Het |
| Hivep2 |
C |
A |
10: 14,008,336 (GRCm39) |
Q1645K |
possibly damaging |
Het |
| Iqce |
A |
C |
5: 140,675,814 (GRCm39) |
M114R |
possibly damaging |
Het |
| Lmbrd1 |
A |
T |
1: 24,785,892 (GRCm39) |
K396* |
probably null |
Het |
| Lrrk2 |
A |
T |
15: 91,657,061 (GRCm39) |
D1785V |
probably damaging |
Het |
| Matcap1 |
A |
T |
8: 106,011,687 (GRCm39) |
M226K |
probably damaging |
Het |
| Mcmdc2 |
ATAAAAAAAAAGGAAAAATTACCTT |
AT |
1: 10,011,142 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
G |
5: 137,781,522 (GRCm39) |
V564A |
probably damaging |
Het |
| Mmp17 |
A |
T |
5: 129,679,193 (GRCm39) |
D364V |
possibly damaging |
Het |
| Mrgpre |
T |
C |
7: 143,335,246 (GRCm39) |
N86D |
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,087,745 (GRCm39) |
|
probably benign |
Het |
| Or2r11 |
A |
T |
6: 42,437,098 (GRCm39) |
L285Q |
probably damaging |
Het |
| Or4f53 |
T |
A |
2: 111,087,982 (GRCm39) |
I174K |
probably damaging |
Het |
| Pate11 |
A |
T |
9: 36,388,357 (GRCm39) |
K61* |
probably null |
Het |
| Pax5 |
T |
C |
4: 44,697,630 (GRCm39) |
D35G |
probably damaging |
Het |
| Pip5k1b |
T |
A |
19: 24,281,440 (GRCm39) |
T473S |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,542,987 (GRCm39) |
|
probably null |
Het |
| Pygo2 |
C |
A |
3: 89,340,067 (GRCm39) |
P155Q |
probably damaging |
Het |
| Rb1cc1 |
G |
T |
1: 6,285,266 (GRCm39) |
|
probably benign |
Het |
| Rbpj |
A |
G |
5: 53,799,425 (GRCm39) |
E80G |
possibly damaging |
Het |
| Sbno1 |
A |
C |
5: 124,546,538 (GRCm39) |
|
probably null |
Het |
| Slc1a1 |
T |
A |
19: 28,874,968 (GRCm39) |
V182E |
probably benign |
Het |
| Slc34a3 |
A |
T |
2: 25,120,671 (GRCm39) |
F419I |
probably benign |
Het |
| Snx8 |
A |
G |
5: 140,343,886 (GRCm39) |
V62A |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,858 (GRCm39) |
S471P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,436,549 (GRCm39) |
S1270C |
probably damaging |
Het |
| Stk11 |
A |
T |
10: 79,962,094 (GRCm39) |
T83S |
probably benign |
Het |
| Syt13 |
A |
G |
2: 92,783,897 (GRCm39) |
E389G |
probably benign |
Het |
| Taf10 |
T |
C |
7: 105,390,139 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
A |
T |
14: 55,937,705 (GRCm39) |
S801R |
possibly damaging |
Het |
| Thoc2l |
A |
T |
5: 104,665,942 (GRCm39) |
T155S |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,047 (GRCm39) |
F628L |
possibly damaging |
Het |
| Tmem171 |
G |
T |
13: 98,824,956 (GRCm39) |
P225T |
probably damaging |
Het |
| Tspan12 |
A |
T |
6: 21,835,458 (GRCm39) |
C72S |
possibly damaging |
Het |
| Txk |
T |
C |
5: 72,853,964 (GRCm39) |
T458A |
probably benign |
Het |
| Txndc9 |
A |
G |
1: 38,026,704 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
C |
A |
1: 169,971,000 (GRCm39) |
C464F |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,240,087 (GRCm39) |
Y99* |
probably null |
Het |
| Usp35 |
T |
C |
7: 96,975,134 (GRCm39) |
Y13C |
probably damaging |
Het |
| Vmn1r6 |
T |
G |
6: 56,979,789 (GRCm39) |
N128K |
probably damaging |
Het |
| Vmn2r106 |
T |
A |
17: 20,497,788 (GRCm39) |
I484L |
probably benign |
Het |
| Zdbf2 |
T |
A |
1: 63,347,092 (GRCm39) |
S1824T |
probably benign |
Het |
| Zdhhc4 |
A |
G |
5: 143,311,915 (GRCm39) |
V19A |
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,524,095 (GRCm39) |
|
probably benign |
Het |
| Zfp97 |
T |
A |
17: 17,365,472 (GRCm39) |
C324S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,766,122 (GRCm39) |
D803N |
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 |
|
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 |
|
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'- CAGACATTCACACAGGAGCG -3'
(R):5'- TCCACAGAACATCCTCGTGG -3'
Sequencing Primer
(F):5'- GCACATTAGTCAATCAACTGAGC -3'
(R):5'- ACATCCTCGTGGGGAGAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation