Incidental Mutation 'R6446:Dennd6a'
| ID |
519202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6a
|
| Ensembl Gene |
ENSMUSG00000040818 |
| Gene Name |
DENN domain containing 6A |
| Synonyms |
A630054L15Rik, Fam116a |
| MMRRC Submission |
044583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R6446 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
26295013-26355477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26350689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 374
(I374K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037585]
[ENSMUST00000203874]
[ENSMUST00000224111]
[ENSMUST00000224248]
[ENSMUST00000224378]
|
| AlphaFold |
Q8BH65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037585
AA Change: I598K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: I598K
| 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 |
noncoding transcript
Transcript: ENSMUST00000166902
|
| Predicted Effect |
probably benign
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 damaging
Transcript: ENSMUST00000224111
AA Change: I374K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224248
AA Change: I374K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224378
AA Change: I248K
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.6570 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a3 |
A |
G |
16: 30,180,687 (GRCm39) |
L114P |
probably benign |
Het |
| Blm |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC |
GCCTCCTCCTCCTCCTCCTCCTCCTCC |
7: 80,162,652 (GRCm39) |
|
probably benign |
Het |
| Catsperg1 |
T |
C |
7: 28,905,992 (GRCm39) |
I196V |
probably benign |
Het |
| Cbx2 |
T |
A |
11: 118,918,752 (GRCm39) |
S106T |
probably benign |
Het |
| Ccar2 |
T |
A |
14: 70,380,518 (GRCm39) |
E354V |
probably benign |
Het |
| Ccr1 |
A |
G |
9: 123,764,143 (GRCm39) |
I129T |
probably damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,181,076 (GRCm39) |
I188F |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,737,900 (GRCm39) |
N2648D |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,940,218 (GRCm39) |
S658P |
probably benign |
Het |
| Csnka2ip |
G |
A |
16: 64,299,744 (GRCm39) |
Q207* |
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,493,873 (GRCm39) |
L1253P |
probably damaging |
Het |
| Dut |
T |
C |
2: 125,092,939 (GRCm39) |
|
probably null |
Het |
| Gcm1 |
T |
C |
9: 77,967,065 (GRCm39) |
Y95H |
probably benign |
Het |
| Grid2 |
A |
T |
6: 64,322,577 (GRCm39) |
I526F |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,472,438 (GRCm39) |
Y2725N |
possibly damaging |
Het |
| Helq |
A |
T |
5: 100,916,250 (GRCm39) |
N907K |
possibly damaging |
Het |
| Hpse |
G |
A |
5: 100,843,435 (GRCm39) |
Q246* |
probably null |
Het |
| Iigp1c |
A |
G |
18: 60,378,840 (GRCm39) |
D125G |
probably damaging |
Het |
| Kcnj15 |
C |
T |
16: 95,097,118 (GRCm39) |
H247Y |
probably benign |
Het |
| Kif27 |
C |
A |
13: 58,493,530 (GRCm39) |
V138F |
probably damaging |
Het |
| Map7 |
T |
G |
10: 20,153,979 (GRCm39) |
D698E |
unknown |
Het |
| Mtmr11 |
A |
T |
3: 96,078,504 (GRCm39) |
S687C |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Nup210l |
G |
A |
3: 90,079,375 (GRCm39) |
G953E |
probably damaging |
Het |
| Or14c45 |
T |
A |
7: 86,176,310 (GRCm39) |
I115N |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,219,678 (GRCm39) |
P792T |
probably damaging |
Het |
| Pld3 |
T |
C |
7: 27,237,156 (GRCm39) |
D241G |
probably damaging |
Het |
| Prss35 |
G |
T |
9: 86,637,706 (GRCm39) |
V159F |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,793 (GRCm39) |
M1406L |
probably benign |
Het |
| Serpina3g |
T |
C |
12: 104,205,341 (GRCm39) |
F27L |
probably damaging |
Het |
| Setd1b |
G |
A |
5: 123,299,862 (GRCm39) |
|
probably benign |
Het |
| Sh3glb1 |
T |
C |
3: 144,411,366 (GRCm39) |
K13E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,171 (GRCm39) |
I217N |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 100,010,448 (GRCm39) |
T1981S |
probably benign |
Het |
| Svil |
A |
C |
18: 5,057,323 (GRCm39) |
E590D |
probably benign |
Het |
| Synm |
A |
G |
7: 67,384,714 (GRCm39) |
S541P |
probably damaging |
Het |
| Vmn2r108 |
A |
T |
17: 20,692,609 (GRCm39) |
Y82* |
probably null |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTAGGCTGAGACCTAAACTTCC -3'
(R):5'- ACGCACTACAAATGTCTGTGTG -3'
Sequencing Primer
(F):5'- TAGGCTGAGACCTAAACTTCCAAGTG -3'
(R):5'- ACAAATGTCTGTGTGTCCGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation