Incidental Mutation 'R4065:Dync2i2'
ID |
316040 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dync2i2
|
Ensembl Gene |
ENSMUSG00000039715 |
Gene Name |
dynein 2 intermediate chain 2 |
Synonyms |
3200002I06Rik, Wdr34 |
MMRRC Submission |
040972-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.449)
|
Stock # |
R4065 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
29921563-29938891 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29922820 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 309
(L309P)
|
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: L309P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000109340 Gene: ENSMUSG00000039715 AA Change: L309P
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: ENSMUST00000139145
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143892
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201758
|
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 |
|
Meta Mutation Damage Score |
0.5475 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
C |
T |
3: 89,966,073 (GRCm39) |
R178* |
probably null |
Het |
Abcc9 |
T |
C |
6: 142,591,616 (GRCm39) |
E769G |
probably damaging |
Het |
Adcy9 |
C |
A |
16: 4,106,298 (GRCm39) |
V939F |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,308,396 (GRCm39) |
F1643S |
probably damaging |
Het |
B430305J03Rik |
A |
G |
3: 61,271,646 (GRCm39) |
|
probably benign |
Het |
C2cd5 |
A |
G |
6: 143,019,397 (GRCm39) |
I306T |
probably benign |
Het |
Camk1d |
A |
T |
2: 5,570,584 (GRCm39) |
F26I |
probably damaging |
Het |
Cant1 |
G |
T |
11: 118,298,823 (GRCm39) |
D313E |
probably benign |
Het |
Dhx29 |
T |
A |
13: 113,101,276 (GRCm39) |
|
probably null |
Het |
Dnah12 |
A |
G |
14: 26,492,405 (GRCm39) |
I1182V |
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,451,639 (GRCm39) |
|
probably null |
Het |
Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
T |
3: 39,063,346 (GRCm39) |
H4434L |
probably benign |
Het |
Fbxo16 |
T |
A |
14: 65,508,278 (GRCm39) |
N31K |
probably damaging |
Het |
Foxj3 |
T |
C |
4: 119,467,206 (GRCm39) |
I183T |
probably benign |
Het |
Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
Fshr |
T |
C |
17: 89,293,394 (GRCm39) |
Y428C |
probably damaging |
Het |
Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
Grem1 |
A |
G |
2: 113,580,033 (GRCm39) |
L156P |
probably damaging |
Het |
Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
Lamc3 |
C |
A |
2: 31,835,270 (GRCm39) |
H1530Q |
probably benign |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Mga |
T |
C |
2: 119,777,483 (GRCm39) |
V1846A |
probably damaging |
Het |
Mthfd1l |
A |
G |
10: 3,982,242 (GRCm39) |
H483R |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Mvp |
A |
G |
7: 126,595,489 (GRCm39) |
V207A |
probably damaging |
Het |
Nsun2 |
T |
C |
13: 69,760,579 (GRCm39) |
|
probably null |
Het |
Or13a26 |
T |
C |
7: 140,284,182 (GRCm39) |
L6P |
probably benign |
Het |
Or8g55 |
T |
C |
9: 39,784,718 (GRCm39) |
I49T |
possibly damaging |
Het |
Pcnx4 |
T |
C |
12: 72,603,134 (GRCm39) |
|
probably null |
Het |
Plxna4 |
T |
A |
6: 32,213,300 (GRCm39) |
K637* |
probably null |
Het |
Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
Prb1a |
T |
A |
6: 132,184,658 (GRCm39) |
Q325L |
unknown |
Het |
Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
Spcs2 |
A |
G |
7: 99,494,012 (GRCm39) |
I164T |
possibly damaging |
Het |
Ssbp4 |
T |
C |
8: 71,052,210 (GRCm39) |
T77A |
possibly damaging |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Uhrf1 |
T |
A |
17: 56,625,020 (GRCm39) |
I521N |
probably damaging |
Het |
Uros |
A |
G |
7: 133,304,057 (GRCm39) |
|
probably null |
Het |
Usp47 |
A |
G |
7: 111,652,623 (GRCm39) |
D100G |
probably benign |
Het |
Utp6 |
T |
C |
11: 79,837,073 (GRCm39) |
R337G |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,828,006 (GRCm39) |
T3147A |
probably damaging |
Het |
Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
Zfp654 |
G |
A |
16: 64,606,288 (GRCm39) |
T638M |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGAAGGCCACTGATGTC -3'
(R):5'- AATTCTTTACTCTTACAGCTGGGG -3'
Sequencing Primer
(F):5'- ACCTCAGTCTCTCCACGGG -3'
(R):5'- GGGGGTGAGGCTGATACTG -3'
|
Posted On |
2015-05-15 |