MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]
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Other mutations in this stock |
Total: 19 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Col19a1 |
T |
A |
1: 24,561,335 |
Y42F |
unknown |
Het |
Fbln2 |
G |
A |
6: 91,233,457 |
D128N |
probably damaging |
Het |
Fgf7 |
G |
T |
2: 126,035,987 |
M91I |
probably benign |
Het |
Gm28539 |
A |
G |
16: 18,836,773 |
H31R |
possibly damaging |
Het |
Hivep1 |
T |
G |
13: 42,159,279 |
V1665G |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,611,700 |
|
probably benign |
Het |
Il10 |
G |
T |
1: 131,021,477 |
R125L |
possibly damaging |
Het |
Kalrn |
C |
T |
16: 34,294,161 |
R574H |
probably damaging |
Het |
Lmln |
A |
G |
16: 33,080,987 |
E251G |
probably benign |
Het |
Olfr1507 |
T |
C |
14: 52,490,545 |
N57D |
probably benign |
Het |
Olfr668 |
T |
C |
7: 104,925,104 |
Y220C |
probably damaging |
Het |
Olfr681 |
T |
A |
7: 105,122,216 |
L253Q |
probably damaging |
Het |
Otol1 |
A |
G |
3: 70,027,797 |
D374G |
probably benign |
Het |
Pcdhb15 |
T |
C |
18: 37,474,261 |
V182A |
probably benign |
Het |
Polr3e |
T |
C |
7: 120,931,317 |
|
probably benign |
Het |
Sectm1a |
A |
T |
11: 121,069,044 |
S149T |
possibly damaging |
Het |
Slfn10-ps |
A |
G |
11: 83,035,935 |
|
noncoding transcript |
Het |
Sox1ot |
A |
G |
8: 12,430,670 |
|
noncoding transcript |
Het |
Tnik |
G |
T |
3: 28,638,479 |
G895C |
probably damaging |
Het |
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