Incidental Mutation 'IGL01590:Dennd6a'
ID |
91555 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dennd6a
|
Ensembl Gene |
ENSMUSG00000040818 |
Gene Name |
DENN domain containing 6A |
Synonyms |
A630054L15Rik, Fam116a |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.243)
|
Stock # |
IGL01590
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
26295013-26355477 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 26340507 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 207
(V207G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152966
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037585]
[ENSMUST00000203874]
[ENSMUST00000224111]
[ENSMUST00000224248]
[ENSMUST00000224378]
|
AlphaFold |
Q8BH65 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037585
AA Change: V431G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000039361 Gene: ENSMUSG00000040818 AA Change: V431G
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
51 |
N/A |
INTRINSIC |
Pfam:Avl9
|
59 |
200 |
2.9e-11 |
PFAM |
Pfam:DENN
|
165 |
371 |
1.1e-7 |
PFAM |
Pfam:SPA
|
265 |
373 |
4.2e-18 |
PFAM |
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
low complexity region
|
526 |
541 |
N/A |
INTRINSIC |
low complexity region
|
554 |
563 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203874
AA Change: V431G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000144906 Gene: ENSMUSG00000040818 AA Change: V431G
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
51 |
N/A |
INTRINSIC |
Pfam:Avl9
|
59 |
200 |
2.6e-11 |
PFAM |
Pfam:DENN
|
165 |
371 |
9.7e-8 |
PFAM |
Pfam:SPA
|
265 |
373 |
3.7e-18 |
PFAM |
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224111
AA Change: V207G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224248
AA Change: V207G
PolyPhen 2
Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224378
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,482,590 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
T |
G |
4: 129,907,606 (GRCm39) |
|
probably benign |
Het |
Apcs |
C |
T |
1: 172,722,034 (GRCm39) |
G104D |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,063,548 (GRCm39) |
R161H |
probably benign |
Het |
Cep250 |
A |
T |
2: 155,834,237 (GRCm39) |
Q2054L |
possibly damaging |
Het |
Ehbp1 |
C |
A |
11: 22,045,611 (GRCm39) |
D688Y |
possibly damaging |
Het |
Fam83a |
C |
A |
15: 57,873,173 (GRCm39) |
S334Y |
probably damaging |
Het |
Fam83e |
T |
A |
7: 45,373,360 (GRCm39) |
F242Y |
probably null |
Het |
Fnip1 |
A |
T |
11: 54,384,126 (GRCm39) |
D341V |
probably damaging |
Het |
Gpatch3 |
A |
G |
4: 133,308,028 (GRCm39) |
|
probably benign |
Het |
Gpc2 |
C |
A |
5: 138,272,640 (GRCm39) |
V558F |
probably damaging |
Het |
H2-M10.6 |
A |
G |
17: 37,123,641 (GRCm39) |
N112D |
probably benign |
Het |
Hs6st1 |
A |
T |
1: 36,142,785 (GRCm39) |
D240V |
probably damaging |
Het |
Inpp5f |
T |
A |
7: 128,266,031 (GRCm39) |
|
probably null |
Het |
Itga8 |
G |
T |
2: 12,165,144 (GRCm39) |
H822N |
probably damaging |
Het |
Kif20b |
T |
A |
19: 34,932,126 (GRCm39) |
N1263K |
possibly damaging |
Het |
Krt28 |
A |
G |
11: 99,265,220 (GRCm39) |
|
probably null |
Het |
Muc5ac |
A |
T |
7: 141,352,630 (GRCm39) |
M706L |
probably benign |
Het |
Or1j12 |
A |
T |
2: 36,343,004 (GRCm39) |
M136L |
probably benign |
Het |
Or52h9 |
A |
C |
7: 104,202,782 (GRCm39) |
I219L |
probably benign |
Het |
Prox2 |
A |
G |
12: 85,134,845 (GRCm39) |
W479R |
probably damaging |
Het |
Rps19 |
A |
T |
7: 24,587,881 (GRCm39) |
D152V |
probably damaging |
Het |
Slc20a1 |
G |
A |
2: 129,051,146 (GRCm39) |
|
probably benign |
Het |
Slc7a2 |
C |
T |
8: 41,367,137 (GRCm39) |
P564S |
probably damaging |
Het |
Slco1a5 |
C |
A |
6: 142,196,045 (GRCm39) |
M319I |
probably benign |
Het |
Spmip2 |
A |
C |
3: 79,356,647 (GRCm39) |
N150T |
probably damaging |
Het |
Spopfm3 |
G |
A |
3: 94,105,674 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
A |
G |
2: 59,615,817 (GRCm39) |
T275A |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,681,837 (GRCm39) |
S2598P |
probably damaging |
Het |
Tiparp |
G |
A |
3: 65,439,397 (GRCm39) |
E56K |
probably benign |
Het |
Trpm5 |
G |
A |
7: 142,636,471 (GRCm39) |
R489C |
probably damaging |
Het |
Vmn2r84 |
C |
A |
10: 130,221,964 (GRCm39) |
G752V |
probably damaging |
Het |
Wnt5b |
T |
A |
6: 119,417,515 (GRCm39) |
T130S |
possibly damaging |
Het |
|
Other mutations in Dennd6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00427:Dennd6a
|
APN |
14 |
26,329,768 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01011:Dennd6a
|
APN |
14 |
26,324,209 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01395:Dennd6a
|
APN |
14 |
26,338,056 (GRCm39) |
nonsense |
probably null |
|
IGL01559:Dennd6a
|
APN |
14 |
26,329,720 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02187:Dennd6a
|
APN |
14 |
26,328,081 (GRCm39) |
missense |
probably benign |
|
IGL03296:Dennd6a
|
APN |
14 |
26,338,115 (GRCm39) |
critical splice donor site |
probably null |
|
R1831:Dennd6a
|
UTSW |
14 |
26,328,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R1833:Dennd6a
|
UTSW |
14 |
26,328,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Dennd6a
|
UTSW |
14 |
26,333,158 (GRCm39) |
missense |
probably damaging |
0.99 |
R2032:Dennd6a
|
UTSW |
14 |
26,325,904 (GRCm39) |
missense |
probably benign |
0.42 |
R2036:Dennd6a
|
UTSW |
14 |
26,329,274 (GRCm39) |
missense |
probably damaging |
0.99 |
R3707:Dennd6a
|
UTSW |
14 |
26,313,546 (GRCm39) |
splice site |
probably benign |
|
R4112:Dennd6a
|
UTSW |
14 |
26,349,673 (GRCm39) |
intron |
probably benign |
|
R4728:Dennd6a
|
UTSW |
14 |
26,348,575 (GRCm39) |
missense |
probably null |
1.00 |
R5053:Dennd6a
|
UTSW |
14 |
26,329,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Dennd6a
|
UTSW |
14 |
26,333,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R5774:Dennd6a
|
UTSW |
14 |
26,300,974 (GRCm39) |
missense |
probably benign |
|
R5775:Dennd6a
|
UTSW |
14 |
26,340,528 (GRCm39) |
nonsense |
probably null |
|
R6238:Dennd6a
|
UTSW |
14 |
26,337,813 (GRCm39) |
critical splice donor site |
probably null |
|
R6446:Dennd6a
|
UTSW |
14 |
26,350,689 (GRCm39) |
missense |
probably damaging |
1.00 |
R6734:Dennd6a
|
UTSW |
14 |
26,329,774 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7289:Dennd6a
|
UTSW |
14 |
26,333,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Dennd6a
|
UTSW |
14 |
26,300,865 (GRCm39) |
nonsense |
probably null |
|
R7887:Dennd6a
|
UTSW |
14 |
26,320,812 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8348:Dennd6a
|
UTSW |
14 |
26,328,098 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8448:Dennd6a
|
UTSW |
14 |
26,328,098 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8847:Dennd6a
|
UTSW |
14 |
26,327,086 (GRCm39) |
missense |
probably benign |
0.19 |
R9102:Dennd6a
|
UTSW |
14 |
26,350,689 (GRCm39) |
missense |
probably damaging |
0.99 |
R9536:Dennd6a
|
UTSW |
14 |
26,329,758 (GRCm39) |
nonsense |
probably null |
|
R9745:Dennd6a
|
UTSW |
14 |
26,320,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
RF003:Dennd6a
|
UTSW |
14 |
26,350,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2013-12-09 |