Incidental Mutation 'IGL01559:Dennd6a'
| ID |
90795 |
| 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 # |
IGL01559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26295013-26355477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26329720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 97
(D97G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037585]
[ENSMUST00000203874]
[ENSMUST00000224111]
[ENSMUST00000224248]
[ENSMUST00000224378]
|
| AlphaFold |
Q8BH65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037585
AA Change: D321G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: D321G
| 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 damaging
Transcript: ENSMUST00000203874
AA Change: D321G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: D321G
| 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 damaging
Transcript: ENSMUST00000224111
AA Change: D97G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224248
AA Change: D97G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224378
AA Change: D97G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225206
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,259,020 (GRCm39) |
N2915K |
possibly damaging |
Het |
| Abca5 |
T |
C |
11: 110,163,352 (GRCm39) |
N1621S |
probably benign |
Het |
| Asb18 |
G |
A |
1: 89,882,172 (GRCm39) |
S122F |
probably damaging |
Het |
| Atg4c |
A |
G |
4: 99,106,440 (GRCm39) |
|
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,648,659 (GRCm39) |
Y363C |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,314,183 (GRCm39) |
T1281A |
possibly damaging |
Het |
| Cers1 |
A |
G |
8: 70,775,883 (GRCm39) |
N295S |
probably damaging |
Het |
| Csn1s2b |
A |
T |
5: 87,968,810 (GRCm39) |
K80* |
probably null |
Het |
| Dmxl1 |
A |
G |
18: 50,054,005 (GRCm39) |
Y2537C |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,001,235 (GRCm39) |
|
probably null |
Het |
| Exoc4 |
A |
G |
6: 33,243,011 (GRCm39) |
T75A |
probably damaging |
Het |
| Fbll1 |
T |
C |
11: 35,688,372 (GRCm39) |
E297G |
probably damaging |
Het |
| Gm10642 |
T |
A |
9: 70,563,874 (GRCm39) |
D152V |
probably damaging |
Het |
| Hdac3 |
A |
G |
18: 38,076,725 (GRCm39) |
|
probably benign |
Het |
| Kif17 |
A |
G |
4: 138,021,080 (GRCm39) |
I850V |
probably damaging |
Het |
| Or2l13 |
T |
C |
16: 19,306,209 (GRCm39) |
L207P |
probably benign |
Het |
| Pi4kb |
T |
A |
3: 94,891,440 (GRCm39) |
L52Q |
probably benign |
Het |
| Sec14l1 |
C |
A |
11: 117,034,110 (GRCm39) |
|
probably null |
Het |
| Slc28a2 |
T |
A |
2: 122,285,021 (GRCm39) |
H336Q |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,490,436 (GRCm39) |
S164P |
probably 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 |
|
|
IGL01590:Dennd6a
|
APN |
14 |
26,340,507 (GRCm39) |
missense |
probably benign |
0.40 |
|
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 |
Incidental Mutation