Incidental Mutation 'IGL03296:Dennd6a'
| ID |
416103 |
| 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 # |
IGL03296
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
26295013-26355477 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 26338115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037585]
[ENSMUST00000203874]
[ENSMUST00000224111]
[ENSMUST00000224248]
[ENSMUST00000224378]
|
| AlphaFold |
Q8BH65 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000037585
|
| SMART Domains |
Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
| 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 null
Transcript: ENSMUST00000203874
|
| SMART Domains |
Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
| 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 null
Transcript: ENSMUST00000224111
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224248
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000224378
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
C |
17: 43,632,044 (GRCm39) |
|
probably benign |
Het |
| Arhgef26 |
A |
G |
3: 62,330,926 (GRCm39) |
T547A |
probably damaging |
Het |
| Cdc14a |
T |
A |
3: 116,090,807 (GRCm39) |
H375L |
probably benign |
Het |
| Ddx43 |
T |
C |
9: 78,306,380 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
T |
12: 40,783,256 (GRCm39) |
E730V |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,868,753 (GRCm39) |
L276S |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,302,524 (GRCm39) |
F930L |
possibly damaging |
Het |
| Inf2 |
C |
T |
12: 112,570,642 (GRCm39) |
Q394* |
probably null |
Het |
| Ints11 |
T |
C |
4: 155,969,780 (GRCm39) |
|
probably null |
Het |
| Kcnd2 |
T |
C |
6: 21,714,208 (GRCm39) |
V397A |
probably damaging |
Het |
| Lmntd1 |
A |
G |
6: 145,359,203 (GRCm39) |
F316L |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,587,262 (GRCm39) |
|
probably benign |
Het |
| Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mindy4 |
T |
C |
6: 55,274,738 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,156,308 (GRCm39) |
I835N |
probably damaging |
Het |
| Myo5a |
T |
C |
9: 75,023,484 (GRCm39) |
I15T |
probably damaging |
Het |
| Nfkb2 |
A |
T |
19: 46,298,367 (GRCm39) |
D557V |
probably damaging |
Het |
| Or11g27 |
A |
T |
14: 50,771,402 (GRCm39) |
I178L |
possibly damaging |
Het |
| Pdk3 |
T |
C |
X: 92,875,503 (GRCm39) |
Y19C |
probably damaging |
Het |
| Pdpr |
G |
T |
8: 111,841,430 (GRCm39) |
V221F |
probably damaging |
Het |
| Rab6a |
T |
C |
7: 100,283,931 (GRCm39) |
Y128H |
probably benign |
Het |
| Rars1 |
A |
T |
11: 35,707,523 (GRCm39) |
Y429* |
probably null |
Het |
| Rsl24d1 |
T |
C |
9: 73,025,229 (GRCm39) |
|
probably null |
Het |
| Slc7a9 |
T |
C |
7: 35,151,852 (GRCm39) |
F49S |
probably damaging |
Het |
| St14 |
C |
T |
9: 31,020,008 (GRCm39) |
E34K |
probably damaging |
Het |
| Tcp10b |
A |
G |
17: 13,292,443 (GRCm39) |
T289A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,942,852 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
T |
7: 36,470,761 (GRCm39) |
T917S |
probably damaging |
Het |
| Vrtn |
T |
A |
12: 84,695,622 (GRCm39) |
I124N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,420,540 (GRCm39) |
E1747G |
probably damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,444 (GRCm39) |
Q36L |
probably benign |
Het |
| Xpo5 |
C |
T |
17: 46,532,320 (GRCm39) |
R452* |
probably null |
Het |
| Zdhhc8 |
A |
T |
16: 18,044,587 (GRCm39) |
L311Q |
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 |
|
IGL01590:Dennd6a
|
APN |
14 |
26,340,507 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02187:Dennd6a
|
APN |
14 |
26,328,081 (GRCm39) |
missense |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation