MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008]
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Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
A |
G |
3: 124,579,878 |
S23P |
possibly damaging |
Het |
Adam1a |
T |
C |
5: 121,519,376 |
Y618C |
probably benign |
Het |
Amigo2 |
A |
C |
15: 97,245,226 |
S438R |
probably benign |
Het |
Atp5k |
T |
C |
5: 108,434,056 |
I21V |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,310,390 |
Y984H |
probably damaging |
Het |
Dpysl2 |
T |
A |
14: 66,807,918 |
I469F |
possibly damaging |
Het |
Edem3 |
C |
T |
1: 151,818,628 |
T886I |
probably benign |
Het |
Gart |
T |
C |
16: 91,625,512 |
T706A |
probably benign |
Het |
Gfpt2 |
A |
T |
11: 49,807,690 |
|
probably benign |
Het |
Gm11541 |
T |
G |
11: 94,695,669 |
D84A |
unknown |
Het |
Gne |
T |
C |
4: 44,041,860 |
|
probably null |
Het |
Gria4 |
A |
T |
9: 4,503,652 |
D321E |
probably benign |
Het |
Ift122 |
T |
G |
6: 115,912,604 |
|
probably null |
Het |
Lcp2 |
A |
T |
11: 34,047,345 |
|
probably benign |
Het |
Mcm2 |
C |
T |
6: 88,891,966 |
|
probably benign |
Het |
Olfr921 |
A |
G |
9: 38,775,929 |
I225V |
probably benign |
Het |
Ptpru |
C |
A |
4: 131,769,492 |
|
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,603,626 |
|
probably null |
Het |
Slc25a39 |
T |
C |
11: 102,404,900 |
T138A |
probably damaging |
Het |
St6galnac1 |
A |
C |
11: 116,769,339 |
S49R |
probably benign |
Het |
Stat1 |
T |
C |
1: 52,139,343 |
L312P |
probably damaging |
Het |
Tmem198 |
T |
C |
1: 75,484,370 |
|
probably benign |
Het |
Top2a |
A |
T |
11: 99,011,030 |
L458Q |
probably damaging |
Het |
Treml4 |
T |
C |
17: 48,264,995 |
|
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,809,569 |
D503G |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,945,273 |
E1854D |
unknown |
Het |
Ubqln3 |
A |
T |
7: 104,142,196 |
M229K |
possibly damaging |
Het |
Zfyve9 |
T |
C |
4: 108,682,260 |
T939A |
probably damaging |
Het |
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