Incidental Mutation 'R5413:Dennd2a'
| ID |
427585 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2a
|
| Ensembl Gene |
ENSMUSG00000038456 |
| Gene Name |
DENN domain containing 2A |
| Synonyms |
B930096L08Rik |
| MMRRC Submission |
042982-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.160)
|
| Stock # |
R5413 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
39439312-39534801 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 39441227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 964
(F964I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036877]
|
| AlphaFold |
Q8C4S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036877
AA Change: F964I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: F964I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DENN
|
9 |
430 |
1e-149 |
BLAST |
|
low complexity region
|
445 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
520 |
N/A |
INTRINSIC |
|
uDENN
|
554 |
646 |
2.06e-31 |
SMART |
|
DENN
|
653 |
837 |
7.1e-76 |
SMART |
|
dDENN
|
888 |
953 |
1.84e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145541
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149162
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
T |
A |
11: 48,911,204 (GRCm39) |
T410S |
possibly damaging |
Het |
| Adamts3 |
A |
G |
5: 89,856,626 (GRCm39) |
S316P |
probably damaging |
Het |
| Angptl3 |
A |
T |
4: 98,919,259 (GRCm39) |
L6F |
probably benign |
Het |
| Clint1 |
T |
C |
11: 45,777,307 (GRCm39) |
V98A |
probably damaging |
Het |
| Clk2 |
A |
G |
3: 89,080,785 (GRCm39) |
N258S |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,905,310 (GRCm39) |
D723G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,701,831 (GRCm39) |
W1751R |
probably damaging |
Het |
| Daam1 |
C |
A |
12: 71,993,066 (GRCm39) |
L352M |
unknown |
Het |
| Dock5 |
A |
G |
14: 68,002,104 (GRCm39) |
L1622P |
probably damaging |
Het |
| Dpy19l4 |
A |
G |
4: 11,289,700 (GRCm39) |
L195P |
probably damaging |
Het |
| Esp24 |
A |
C |
17: 39,350,893 (GRCm39) |
E31A |
possibly damaging |
Het |
| Fars2 |
T |
A |
13: 36,388,545 (GRCm39) |
Y11* |
probably null |
Het |
| Fbxl16 |
C |
A |
17: 26,035,817 (GRCm39) |
T138K |
possibly damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,249,196 (GRCm39) |
I129V |
probably benign |
Het |
| Gria1 |
A |
G |
11: 57,108,620 (GRCm39) |
N241S |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,528,287 (GRCm39) |
E274G |
probably benign |
Het |
| Igdcc3 |
T |
C |
9: 65,084,797 (GRCm39) |
V189A |
possibly damaging |
Het |
| Igkv12-98 |
A |
G |
6: 68,548,078 (GRCm39) |
Y68C |
possibly damaging |
Het |
| Igkv3-3 |
G |
C |
6: 70,664,414 (GRCm39) |
R85S |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,500,320 (GRCm39) |
T144A |
possibly damaging |
Het |
| Lrp1 |
A |
G |
10: 127,423,936 (GRCm39) |
|
probably null |
Het |
| Myh9 |
A |
T |
15: 77,692,186 (GRCm39) |
Y124* |
probably null |
Het |
| Or14c44 |
A |
G |
7: 86,061,675 (GRCm39) |
Y35C |
probably benign |
Het |
| Or2n1d |
G |
T |
17: 38,646,515 (GRCm39) |
A156S |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,209,240 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or6b13 |
A |
T |
7: 139,782,635 (GRCm39) |
V16E |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,961,855 (GRCm39) |
Y551H |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,096,040 (GRCm39) |
M249T |
possibly damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,538,620 (GRCm39) |
|
probably null |
Het |
| Piwil1 |
G |
A |
5: 128,820,944 (GRCm39) |
V290I |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,298,638 (GRCm39) |
D444V |
possibly damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,995,173 (GRCm39) |
D677G |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,057,659 (GRCm39) |
E237G |
probably benign |
Het |
| Trpm5 |
A |
T |
7: 142,634,705 (GRCm39) |
I664N |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,257,936 (GRCm39) |
|
probably null |
Het |
| Usp17lc |
C |
A |
7: 103,067,763 (GRCm39) |
Q353K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,568,252 (GRCm39) |
V547M |
probably damaging |
Het |
| Vdac1 |
G |
T |
11: 52,265,794 (GRCm39) |
L52F |
probably null |
Het |
| Vmn2r14 |
T |
A |
5: 109,369,154 (GRCm39) |
I140L |
probably benign |
Het |
| Wnt3a |
A |
G |
11: 59,166,182 (GRCm39) |
S33P |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,281,710 (GRCm39) |
Y300N |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,075,892 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Dennd2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:Dennd2a
|
APN |
6 |
39,500,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01482:Dennd2a
|
APN |
6 |
39,457,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02135:Dennd2a
|
APN |
6 |
39,457,205 (GRCm39) |
nonsense |
probably null |
|
|
IGL02206:Dennd2a
|
APN |
6 |
39,500,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02649:Dennd2a
|
APN |
6 |
39,447,290 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03057:Dennd2a
|
APN |
6 |
39,485,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0310:Dennd2a
|
UTSW |
6 |
39,441,135 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Dennd2a
|
UTSW |
6 |
39,474,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0360:Dennd2a
|
UTSW |
6 |
39,485,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0364:Dennd2a
|
UTSW |
6 |
39,485,233 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0394:Dennd2a
|
UTSW |
6 |
39,499,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0680:Dennd2a
|
UTSW |
6 |
39,459,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1741:Dennd2a
|
UTSW |
6 |
39,470,091 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1744:Dennd2a
|
UTSW |
6 |
39,457,185 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2070:Dennd2a
|
UTSW |
6 |
39,442,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3833:Dennd2a
|
UTSW |
6 |
39,483,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3833:Dennd2a
|
UTSW |
6 |
39,483,651 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4120:Dennd2a
|
UTSW |
6 |
39,442,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Dennd2a
|
UTSW |
6 |
39,499,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4842:Dennd2a
|
UTSW |
6 |
39,474,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4887:Dennd2a
|
UTSW |
6 |
39,474,093 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4901:Dennd2a
|
UTSW |
6 |
39,499,621 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5065:Dennd2a
|
UTSW |
6 |
39,472,110 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6181:Dennd2a
|
UTSW |
6 |
39,462,554 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6239:Dennd2a
|
UTSW |
6 |
39,465,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Dennd2a
|
UTSW |
6 |
39,470,076 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7115:Dennd2a
|
UTSW |
6 |
39,483,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7419:Dennd2a
|
UTSW |
6 |
39,500,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7567:Dennd2a
|
UTSW |
6 |
39,499,743 (GRCm39) |
missense |
probably benign |
|
|
R7587:Dennd2a
|
UTSW |
6 |
39,460,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Dennd2a
|
UTSW |
6 |
39,470,037 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7781:Dennd2a
|
UTSW |
6 |
39,470,000 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7962:Dennd2a
|
UTSW |
6 |
39,457,207 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8683:Dennd2a
|
UTSW |
6 |
39,500,137 (GRCm39) |
nonsense |
probably null |
|
|
R8961:Dennd2a
|
UTSW |
6 |
39,462,555 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9424:Dennd2a
|
UTSW |
6 |
39,485,294 (GRCm39) |
nonsense |
probably null |
|
|
R9765:Dennd2a
|
UTSW |
6 |
39,473,907 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9767:Dennd2a
|
UTSW |
6 |
39,483,709 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0026:Dennd2a
|
UTSW |
6 |
39,485,301 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Dennd2a
|
UTSW |
6 |
39,500,408 (GRCm39) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAGACAGTCCACCCTGTAC -3'
(R):5'- GACTTTACGGCTTCCCACAG -3'
Sequencing Primer
(F):5'- GACAGTCCACCCTGTACCGTTC -3'
(R):5'- CCACAGACAGCTATTATACAAGGTGG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation