Incidental Mutation 'R8277:Dync2i2'
| ID |
638012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dync2i2
|
| Ensembl Gene |
ENSMUSG00000039715 |
| Gene Name |
dynein 2 intermediate chain 2 |
| Synonyms |
3200002I06Rik, Wdr34 |
| MMRRC Submission |
067700-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R8277 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
29921563-29938891 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29923886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 213
(V213A)
|
| 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: V213A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109340
Gene: ENSMUSG00000039715
AA Change: V213A
| 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
C |
A |
19: 57,204,351 (GRCm39) |
L13F |
probably benign |
Het |
| Apoe |
C |
T |
7: 19,432,303 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
G |
5: 62,771,335 (GRCm39) |
|
probably null |
Het |
| Aspm |
T |
C |
1: 139,382,748 (GRCm39) |
S27P |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,050,646 (GRCm39) |
D90Y |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,747,030 (GRCm39) |
D327E |
probably damaging |
Het |
| Cfh |
A |
G |
1: 140,029,347 (GRCm39) |
W1001R |
probably damaging |
Het |
| Chrm2 |
G |
A |
6: 36,500,211 (GRCm39) |
V23M |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,516,410 (GRCm39) |
G175R |
probably null |
Het |
| Ddx52 |
T |
C |
11: 83,845,940 (GRCm39) |
S422P |
probably damaging |
Het |
| Entr1 |
G |
A |
2: 26,274,778 (GRCm39) |
A373V |
probably damaging |
Het |
| Gucy2d |
T |
A |
7: 98,092,682 (GRCm39) |
W20R |
probably benign |
Het |
| Hao2 |
A |
G |
3: 98,787,700 (GRCm39) |
I243T |
probably damaging |
Het |
| Hmcn2 |
A |
C |
2: 31,259,189 (GRCm39) |
T1010P |
probably benign |
Het |
| Iqcf1 |
T |
C |
9: 106,379,077 (GRCm39) |
S29P |
probably benign |
Het |
| Kat2b |
T |
A |
17: 53,948,281 (GRCm39) |
D350E |
probably benign |
Het |
| Lingo4 |
A |
G |
3: 94,309,931 (GRCm39) |
S290G |
possibly damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,954,220 (GRCm39) |
T834A |
probably benign |
Het |
| Mro |
A |
T |
18: 73,997,132 (GRCm39) |
|
probably benign |
Het |
| Mrps26 |
T |
A |
2: 130,406,347 (GRCm39) |
L160Q |
probably damaging |
Het |
| Myh8 |
T |
C |
11: 67,183,735 (GRCm39) |
I788T |
probably benign |
Het |
| Nab2 |
G |
A |
10: 127,501,168 (GRCm39) |
|
probably benign |
Het |
| Nr2c2ap |
C |
T |
8: 70,585,131 (GRCm39) |
Q67* |
probably null |
Het |
| Or1p1b |
C |
T |
11: 74,130,842 (GRCm39) |
L151F |
probably benign |
Het |
| Pask |
C |
T |
1: 93,253,085 (GRCm39) |
|
probably null |
Het |
| Pcnx2 |
A |
T |
8: 126,592,755 (GRCm39) |
S736R |
probably damaging |
Het |
| Per2 |
G |
T |
1: 91,348,274 (GRCm39) |
D1109E |
probably benign |
Het |
| Plxna1 |
G |
A |
6: 89,334,162 (GRCm39) |
H156Y |
probably damaging |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Rbpms2 |
T |
A |
9: 65,556,695 (GRCm39) |
F45Y |
probably damaging |
Het |
| Rmdn3 |
T |
C |
2: 118,976,905 (GRCm39) |
D276G |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,427,030 (GRCm39) |
I171K |
probably benign |
Het |
| Serpinb3a |
C |
A |
1: 106,973,970 (GRCm39) |
G314C |
probably damaging |
Het |
| Slc35f3 |
T |
A |
8: 127,115,925 (GRCm39) |
V284D |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,255,722 (GRCm39) |
V934A |
probably benign |
Het |
| Tctn1 |
A |
G |
5: 122,402,431 (GRCm39) |
M1T |
probably null |
Het |
| Tgoln1 |
G |
A |
6: 72,593,838 (GRCm39) |
|
probably benign |
Het |
| Unc5c |
G |
A |
3: 141,474,373 (GRCm39) |
|
probably null |
Het |
| Vmn2r11 |
A |
T |
5: 109,202,833 (GRCm39) |
F81L |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,440,970 (GRCm39) |
V296E |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,310 (GRCm39) |
D183N |
probably damaging |
Het |
| Zfp763 |
T |
C |
17: 33,252,294 (GRCm39) |
|
probably benign |
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 |
|
IGL02165:Dync2i2
|
APN |
2 |
29,922,172 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCCCTTCCAAATGATTCC -3'
(R):5'- AGGGTACACAGGCTAATTTGGG -3'
Sequencing Primer
(F):5'- CCTCACAGGTCCACACTGG -3'
(R):5'- GGGGTGATTAGTGAGGCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation