Incidental Mutation 'IGL02165:Dync2i2'
ID |
282674 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dync2i2
|
Ensembl Gene |
ENSMUSG00000039715 |
Gene Name |
dynein 2 intermediate chain 2 |
Synonyms |
3200002I06Rik, Wdr34 |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.544)
|
Stock # |
IGL02165
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
29921563-29938891 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29922172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 430
(T430A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109340
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046257]
[ENSMUST00000095083]
[ENSMUST00000100225]
[ENSMUST00000113711]
[ENSMUST00000113717]
[ENSMUST00000113719]
[ENSMUST00000129241]
|
AlphaFold |
Q5U4F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046257
|
SMART Domains |
Protein: ENSMUSP00000047792 Gene: ENSMUSG00000057738
Domain | Start | End | E-Value | Type |
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
SPEC
|
893 |
1068 |
1.18e-24 |
SMART |
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
SPEC
|
1074 |
1210 |
6.52e-27 |
SMART |
SPEC
|
1216 |
1316 |
1.44e-37 |
SMART |
SPEC
|
1322 |
1422 |
4.43e-29 |
SMART |
SPEC
|
1428 |
1528 |
7.54e-32 |
SMART |
SPEC
|
1534 |
1635 |
9.65e-30 |
SMART |
SPEC
|
1641 |
1741 |
2.32e-32 |
SMART |
SPEC
|
1747 |
1847 |
6.98e-36 |
SMART |
SPEC
|
1853 |
1953 |
1.53e-32 |
SMART |
SPEC
|
1959 |
2060 |
6.23e-24 |
SMART |
SPEC
|
2074 |
2174 |
2.08e-11 |
SMART |
SPEC
|
2188 |
2289 |
1.07e-4 |
SMART |
EFh
|
2307 |
2335 |
5.78e-7 |
SMART |
EFh
|
2350 |
2378 |
3.85e-3 |
SMART |
efhand_Ca_insen
|
2382 |
2451 |
6.74e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095083
|
SMART Domains |
Protein: ENSMUSP00000092697 Gene: ENSMUSG00000057738
Domain | Start | End | E-Value | Type |
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
SPEC
|
893 |
1088 |
1.56e-24 |
SMART |
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
SPEC
|
1094 |
1230 |
6.52e-27 |
SMART |
SPEC
|
1236 |
1336 |
1.44e-37 |
SMART |
SPEC
|
1342 |
1442 |
4.43e-29 |
SMART |
SPEC
|
1448 |
1548 |
7.54e-32 |
SMART |
SPEC
|
1554 |
1655 |
9.65e-30 |
SMART |
SPEC
|
1661 |
1761 |
2.32e-32 |
SMART |
SPEC
|
1767 |
1867 |
6.98e-36 |
SMART |
SPEC
|
1873 |
1973 |
1.53e-32 |
SMART |
SPEC
|
1979 |
2080 |
6.23e-24 |
SMART |
SPEC
|
2094 |
2194 |
2.08e-11 |
SMART |
SPEC
|
2208 |
2309 |
1.07e-4 |
SMART |
EFh
|
2327 |
2355 |
5.78e-7 |
SMART |
EFh
|
2370 |
2398 |
3.85e-3 |
SMART |
efhand_Ca_insen
|
2402 |
2471 |
6.74e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100225
|
SMART Domains |
Protein: ENSMUSP00000097797 Gene: ENSMUSG00000057738
Domain | Start | End | E-Value | Type |
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
SPEC
|
893 |
1088 |
1.56e-24 |
SMART |
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
SPEC
|
1094 |
1230 |
6.52e-27 |
SMART |
SPEC
|
1236 |
1336 |
1.44e-37 |
SMART |
SPEC
|
1342 |
1442 |
4.43e-29 |
SMART |
SPEC
|
1448 |
1548 |
7.54e-32 |
SMART |
SPEC
|
1554 |
1660 |
2.06e-24 |
SMART |
SPEC
|
1666 |
1766 |
2.32e-32 |
SMART |
SPEC
|
1772 |
1872 |
6.98e-36 |
SMART |
SPEC
|
1878 |
1978 |
1.53e-32 |
SMART |
SPEC
|
1984 |
2085 |
6.23e-24 |
SMART |
SPEC
|
2099 |
2199 |
2.08e-11 |
SMART |
SPEC
|
2213 |
2314 |
1.07e-4 |
SMART |
EFh
|
2332 |
2360 |
5.78e-7 |
SMART |
EFh
|
2375 |
2403 |
3.85e-3 |
SMART |
efhand_Ca_insen
|
2407 |
2476 |
6.74e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113711
AA Change: T430A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109340 Gene: ENSMUSG00000039715 AA Change: T430A
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
36 |
N/A |
INTRINSIC |
low complexity region
|
90 |
100 |
N/A |
INTRINSIC |
Blast:WD40
|
146 |
200 |
3e-28 |
BLAST |
WD40
|
207 |
247 |
2e-1 |
SMART |
WD40
|
256 |
300 |
3.42e1 |
SMART |
Blast:WD40
|
323 |
364 |
8e-10 |
BLAST |
WD40
|
382 |
422 |
1.66e-5 |
SMART |
WD40
|
425 |
465 |
3.09e-1 |
SMART |
WD40
|
470 |
512 |
4.18e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113717
|
SMART Domains |
Protein: ENSMUSP00000109346 Gene: ENSMUSG00000057738
Domain | Start | End | E-Value | Type |
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
SPEC
|
893 |
1068 |
1.18e-24 |
SMART |
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
SPEC
|
1074 |
1210 |
6.52e-27 |
SMART |
SPEC
|
1216 |
1316 |
1.44e-37 |
SMART |
SPEC
|
1322 |
1422 |
4.43e-29 |
SMART |
SPEC
|
1428 |
1528 |
7.54e-32 |
SMART |
SPEC
|
1534 |
1640 |
2.06e-24 |
SMART |
SPEC
|
1646 |
1746 |
2.32e-32 |
SMART |
SPEC
|
1752 |
1852 |
6.98e-36 |
SMART |
SPEC
|
1858 |
1958 |
1.53e-32 |
SMART |
SPEC
|
1964 |
2065 |
6.23e-24 |
SMART |
SPEC
|
2079 |
2179 |
2.08e-11 |
SMART |
SPEC
|
2193 |
2294 |
1.07e-4 |
SMART |
EFh
|
2312 |
2340 |
5.78e-7 |
SMART |
EFh
|
2355 |
2383 |
3.85e-3 |
SMART |
efhand_Ca_insen
|
2387 |
2456 |
6.74e-32 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113719
|
SMART Domains |
Protein: ENSMUSP00000109348 Gene: ENSMUSG00000057738
Domain | Start | End | E-Value | Type |
SPEC
|
47 |
146 |
2.1e-30 |
SMART |
SPEC
|
152 |
252 |
2.6e-35 |
SMART |
SPEC
|
258 |
358 |
4.93e-36 |
SMART |
SPEC
|
364 |
464 |
1.08e-27 |
SMART |
SPEC
|
470 |
570 |
9.01e-30 |
SMART |
SPEC
|
576 |
675 |
3.52e-32 |
SMART |
SPEC
|
681 |
781 |
2.15e-36 |
SMART |
SPEC
|
787 |
887 |
2.45e-40 |
SMART |
SPEC
|
893 |
1068 |
1.18e-24 |
SMART |
SH3
|
970 |
1025 |
8.24e-18 |
SMART |
SPEC
|
1074 |
1210 |
6.52e-27 |
SMART |
SPEC
|
1216 |
1316 |
1.44e-37 |
SMART |
SPEC
|
1322 |
1422 |
4.43e-29 |
SMART |
SPEC
|
1428 |
1528 |
7.54e-32 |
SMART |
SPEC
|
1534 |
1640 |
2.06e-24 |
SMART |
SPEC
|
1646 |
1746 |
2.32e-32 |
SMART |
SPEC
|
1752 |
1852 |
6.98e-36 |
SMART |
SPEC
|
1858 |
1958 |
1.53e-32 |
SMART |
SPEC
|
1964 |
2065 |
6.23e-24 |
SMART |
SPEC
|
2079 |
2179 |
2.08e-11 |
SMART |
SPEC
|
2193 |
2315 |
3.27e0 |
SMART |
EFh
|
2333 |
2361 |
5.78e-7 |
SMART |
EFh
|
2376 |
2404 |
3.85e-3 |
SMART |
efhand_Ca_insen
|
2408 |
2477 |
6.74e-32 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124494
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139145
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143892
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129241
|
SMART Domains |
Protein: ENSMUSP00000121116 Gene: ENSMUSG00000057738
Domain | Start | End | E-Value | Type |
Pfam:Spectrin
|
1 |
65 |
9.9e-10 |
PFAM |
SPEC
|
78 |
178 |
2.08e-11 |
SMART |
SPEC
|
192 |
314 |
3.27e0 |
SMART |
EFh
|
332 |
360 |
5.78e-7 |
SMART |
EFh
|
375 |
403 |
3.85e-3 |
SMART |
efhand_Ca_insen
|
407 |
476 |
6.74e-32 |
SMART |
|
Coding Region Coverage |
|
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), which may facilitate 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. Defects in this gene are a cause of short-rib thoracic dysplasia 11 with or without polydactyly. [provided by RefSeq, Mar 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,904,586 (GRCm39) |
M199K |
possibly damaging |
Het |
Abo |
C |
A |
2: 26,733,441 (GRCm39) |
V255L |
probably damaging |
Het |
Alas1 |
A |
T |
9: 106,115,982 (GRCm39) |
M344K |
probably damaging |
Het |
Ap1m1 |
A |
G |
8: 73,003,653 (GRCm39) |
I118V |
probably benign |
Het |
Ap5m1 |
A |
T |
14: 49,316,185 (GRCm39) |
I252F |
possibly damaging |
Het |
Arhgef2 |
G |
A |
3: 88,553,527 (GRCm39) |
R886H |
probably damaging |
Het |
Atp13a4 |
T |
C |
16: 29,252,828 (GRCm39) |
E706G |
probably damaging |
Het |
Baz2a |
C |
A |
10: 127,955,218 (GRCm39) |
A775E |
probably benign |
Het |
C3 |
A |
T |
17: 57,532,092 (GRCm39) |
F210I |
probably benign |
Het |
Casq1 |
A |
G |
1: 172,040,948 (GRCm39) |
L280P |
probably damaging |
Het |
Cebpz |
A |
G |
17: 79,229,598 (GRCm39) |
F919L |
probably damaging |
Het |
Commd1b |
A |
T |
11: 22,932,072 (GRCm39) |
|
probably benign |
Het |
Dclre1c |
T |
A |
2: 3,451,418 (GRCm39) |
|
probably benign |
Het |
Dsc3 |
T |
G |
18: 20,116,709 (GRCm39) |
M276L |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,742,573 (GRCm39) |
|
probably benign |
Het |
Elfn2 |
T |
A |
15: 78,557,618 (GRCm39) |
T310S |
probably benign |
Het |
Ep300 |
A |
G |
15: 81,525,592 (GRCm39) |
K1472R |
probably benign |
Het |
Fbxl2 |
T |
C |
9: 113,847,099 (GRCm39) |
D8G |
probably benign |
Het |
Galnt5 |
T |
A |
2: 57,888,877 (GRCm39) |
M159K |
probably benign |
Het |
Hars2 |
T |
A |
18: 36,916,447 (GRCm39) |
M1K |
probably null |
Het |
Hk1 |
T |
C |
10: 62,117,667 (GRCm39) |
T619A |
probably damaging |
Het |
Ifi44 |
C |
T |
3: 151,455,067 (GRCm39) |
V53M |
probably damaging |
Het |
Ippk |
T |
A |
13: 49,600,011 (GRCm39) |
V339D |
possibly damaging |
Het |
Kcnma1 |
G |
T |
14: 23,387,035 (GRCm39) |
N875K |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,392,251 (GRCm39) |
V991E |
probably damaging |
Het |
Larp6 |
A |
G |
9: 60,620,595 (GRCm39) |
E36G |
probably benign |
Het |
Lonp2 |
A |
T |
8: 87,435,654 (GRCm39) |
D210V |
probably damaging |
Het |
Lrrc4c |
G |
A |
2: 97,459,378 (GRCm39) |
M1I |
probably null |
Het |
Mmp2 |
A |
G |
8: 93,559,847 (GRCm39) |
K270R |
probably null |
Het |
Nexmif |
C |
T |
X: 103,128,360 (GRCm39) |
V1186I |
probably benign |
Het |
Or11g2 |
A |
G |
14: 50,856,468 (GRCm39) |
Y263C |
probably damaging |
Het |
Or1x2 |
A |
T |
11: 50,918,470 (GRCm39) |
I214F |
probably benign |
Het |
Pld2 |
T |
C |
11: 70,446,503 (GRCm39) |
L763P |
probably damaging |
Het |
Pold1 |
A |
T |
7: 44,187,484 (GRCm39) |
F644L |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,104,652 (GRCm39) |
S1377P |
probably damaging |
Het |
Rps18-ps6 |
T |
G |
13: 97,896,648 (GRCm39) |
K150T |
probably benign |
Het |
Rttn |
A |
G |
18: 89,061,165 (GRCm39) |
D1111G |
probably benign |
Het |
Slc27a5 |
A |
G |
7: 12,728,875 (GRCm39) |
V130A |
probably damaging |
Het |
Slfn8 |
T |
C |
11: 82,908,022 (GRCm39) |
R174G |
probably benign |
Het |
Slitrk6 |
G |
A |
14: 110,989,249 (GRCm39) |
P153S |
probably benign |
Het |
Sorcs3 |
T |
C |
19: 48,642,511 (GRCm39) |
I388T |
probably benign |
Het |
Star |
A |
T |
8: 26,302,843 (GRCm39) |
T262S |
possibly damaging |
Het |
Strn |
A |
T |
17: 78,995,049 (GRCm39) |
W2R |
probably damaging |
Het |
Tnmd |
T |
C |
X: 132,763,701 (GRCm39) |
S172P |
probably damaging |
Het |
Togaram2 |
A |
G |
17: 72,004,861 (GRCm39) |
K305R |
probably benign |
Het |
Trhde |
C |
A |
10: 114,428,066 (GRCm39) |
W410L |
probably damaging |
Het |
Trim5 |
C |
T |
7: 103,928,566 (GRCm39) |
R125Q |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,831,007 (GRCm39) |
|
probably benign |
Het |
Vmn1r80 |
T |
A |
7: 11,927,379 (GRCm39) |
M163K |
probably benign |
Het |
Wnk4 |
C |
A |
11: 101,166,117 (GRCm39) |
|
probably benign |
Het |
Zfp277 |
T |
A |
12: 40,365,802 (GRCm39) |
I430F |
possibly damaging |
Het |
Zfp566 |
A |
T |
7: 29,777,255 (GRCm39) |
C309S |
probably damaging |
Het |
Zfp740 |
T |
G |
15: 102,121,109 (GRCm39) |
F141V |
possibly damaging |
Het |
Zfp87 |
T |
A |
13: 67,665,989 (GRCm39) |
I158F |
probably damaging |
Het |
Zswim3 |
C |
A |
2: 164,663,035 (GRCm39) |
A505D |
possibly damaging |
Het |
|
Other mutations in Dync2i2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02007:Dync2i2
|
APN |
2 |
29,928,402 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02600:Dync2i2
|
APN |
2 |
29,923,314 (GRCm39) |
missense |
possibly damaging |
0.65 |
PIT1430001:Dync2i2
|
UTSW |
2 |
29,922,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Dync2i2
|
UTSW |
2 |
29,921,837 (GRCm39) |
missense |
probably damaging |
0.98 |
R4065:Dync2i2
|
UTSW |
2 |
29,922,820 (GRCm39) |
missense |
probably benign |
0.03 |
R4067:Dync2i2
|
UTSW |
2 |
29,922,820 (GRCm39) |
missense |
probably benign |
0.03 |
R4750:Dync2i2
|
UTSW |
2 |
29,923,932 (GRCm39) |
missense |
probably benign |
0.00 |
R4907:Dync2i2
|
UTSW |
2 |
29,922,472 (GRCm39) |
splice site |
probably null |
|
R5008:Dync2i2
|
UTSW |
2 |
29,922,781 (GRCm39) |
missense |
probably benign |
0.14 |
R5253:Dync2i2
|
UTSW |
2 |
29,922,375 (GRCm39) |
unclassified |
probably benign |
|
R6014:Dync2i2
|
UTSW |
2 |
29,921,763 (GRCm39) |
missense |
probably benign |
0.01 |
R6456:Dync2i2
|
UTSW |
2 |
29,922,779 (GRCm39) |
missense |
probably benign |
0.01 |
R6789:Dync2i2
|
UTSW |
2 |
29,923,284 (GRCm39) |
critical splice donor site |
probably null |
|
R7024:Dync2i2
|
UTSW |
2 |
29,928,278 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7319:Dync2i2
|
UTSW |
2 |
29,928,341 (GRCm39) |
missense |
probably benign |
0.00 |
R7576:Dync2i2
|
UTSW |
2 |
29,938,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7640:Dync2i2
|
UTSW |
2 |
29,921,780 (GRCm39) |
missense |
probably benign |
0.00 |
R8025:Dync2i2
|
UTSW |
2 |
29,938,730 (GRCm39) |
missense |
probably benign |
0.00 |
R8111:Dync2i2
|
UTSW |
2 |
29,921,859 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8273:Dync2i2
|
UTSW |
2 |
29,921,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R8277:Dync2i2
|
UTSW |
2 |
29,923,886 (GRCm39) |
missense |
probably benign |
|
R8309:Dync2i2
|
UTSW |
2 |
29,922,201 (GRCm39) |
missense |
probably damaging |
1.00 |
R8724:Dync2i2
|
UTSW |
2 |
29,923,961 (GRCm39) |
missense |
probably benign |
0.11 |
R8732:Dync2i2
|
UTSW |
2 |
29,922,220 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8837:Dync2i2
|
UTSW |
2 |
29,928,374 (GRCm39) |
missense |
probably benign |
0.03 |
R9149:Dync2i2
|
UTSW |
2 |
29,923,953 (GRCm39) |
missense |
probably benign |
0.26 |
R9190:Dync2i2
|
UTSW |
2 |
29,922,211 (GRCm39) |
missense |
probably benign |
0.05 |
R9557:Dync2i2
|
UTSW |
2 |
29,922,534 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Posted On |
2015-04-16 |