Incidental Mutation 'IGL00727:Dennd5b'
ID |
10122 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dennd5b
|
Ensembl Gene |
ENSMUSG00000030313 |
Gene Name |
DENN/MADD domain containing 5B |
Synonyms |
9330160C06Rik, D030011O10Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.163)
|
Stock # |
IGL00727
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
148988071-149101680 bp(-) (GRCm38) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 149006716 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
AlphaFold |
A2RSQ0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111557
|
SMART Domains |
Protein: ENSMUSP00000107182 Gene: ENSMUSG00000030313
Domain | Start | End | E-Value | Type |
uDENN
|
18 |
120 |
9.96e-39 |
SMART |
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
DENN
|
187 |
375 |
2.97e-78 |
SMART |
dDENN
|
498 |
574 |
5.92e-23 |
SMART |
RUN
|
866 |
929 |
2.13e-22 |
SMART |
Pfam:PLAT
|
938 |
1043 |
1.7e-12 |
PFAM |
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
RUN
|
1205 |
1265 |
8.42e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117470
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
A |
13: 81,524,684 |
Y1470F |
probably damaging |
Het |
Fmnl3 |
G |
A |
15: 99,322,670 |
T577I |
probably damaging |
Het |
Klra17 |
A |
G |
6: 129,831,509 |
Y254H |
probably benign |
Het |
Kprp |
A |
T |
3: 92,824,427 |
S439T |
unknown |
Het |
Lrrc40 |
T |
C |
3: 158,063,871 |
|
probably null |
Het |
Mb21d1 |
G |
A |
9: 78,435,488 |
P344L |
probably damaging |
Het |
Nlrp4c |
A |
G |
7: 6,066,702 |
E534G |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 25,641,158 |
S180P |
probably damaging |
Het |
Phc2 |
T |
G |
4: 128,745,844 |
V640G |
probably damaging |
Het |
Ppp1r12a |
G |
A |
10: 108,230,473 |
R175Q |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,364,661 |
R768H |
probably damaging |
Het |
|
Other mutations in Dennd5b |
|
Posted On |
2012-12-06 |