Incidental Mutation 'R5065:Dennd2a'
| ID |
388287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2a
|
| Ensembl Gene |
ENSMUSG00000038456 |
| Gene Name |
DENN domain containing 2A |
| Synonyms |
B930096L08Rik |
| MMRRC Submission |
042655-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R5065 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39439312-39534801 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to A
at 39472110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036877]
[ENSMUST00000154149]
|
| AlphaFold |
Q8C4S8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036877
|
| SMART Domains |
Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
| 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 |
probably benign
Transcript: ENSMUST00000154149
|
| SMART Domains |
Protein: ENSMUSP00000116907
Gene: ENSMUSG00000038456
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DENN
|
9 |
420 |
1e-152 |
BLAST |
|
| Meta Mutation Damage Score |
0.9494 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
T |
A |
1: 138,779,893 (GRCm39) |
N120Y |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,382,432 (GRCm39) |
T272M |
probably benign |
Het |
| Aldh9a1 |
A |
G |
1: 167,180,128 (GRCm39) |
E74G |
probably damaging |
Het |
| Asxl3 |
C |
G |
18: 22,658,356 (GRCm39) |
A2122G |
possibly damaging |
Het |
| Bcl2l10 |
A |
T |
9: 75,255,261 (GRCm39) |
E26V |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,457,453 (GRCm39) |
H1166Q |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,832,883 (GRCm39) |
F129L |
probably damaging |
Het |
| Gm4847 |
A |
T |
1: 166,462,359 (GRCm39) |
I377N |
probably damaging |
Het |
| Gm8674 |
T |
C |
13: 50,056,613 (GRCm39) |
|
noncoding transcript |
Het |
| Hhipl2 |
A |
T |
1: 183,207,580 (GRCm39) |
H433L |
probably benign |
Het |
| Hsfy2 |
G |
A |
1: 56,675,626 (GRCm39) |
Q304* |
probably null |
Het |
| Ighg2c |
T |
C |
12: 113,251,708 (GRCm39) |
I140V |
unknown |
Het |
| Kmt2a |
T |
C |
9: 44,753,997 (GRCm39) |
|
probably benign |
Het |
| Map3k5 |
A |
G |
10: 19,958,213 (GRCm39) |
E671G |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,985,917 (GRCm39) |
D607G |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,500,119 (GRCm39) |
|
probably null |
Het |
| Or10g6 |
A |
G |
9: 39,934,546 (GRCm39) |
I286V |
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,047 (GRCm39) |
D124G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,445,689 (GRCm39) |
N3790K |
possibly damaging |
Het |
| Polr3b |
C |
A |
10: 84,468,402 (GRCm39) |
N129K |
probably benign |
Het |
| Ptpn23 |
A |
T |
9: 110,227,256 (GRCm39) |
L31Q |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,932,615 (GRCm39) |
N706S |
possibly damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,324 (GRCm39) |
I338V |
probably benign |
Het |
| Slc39a7 |
A |
G |
17: 34,250,033 (GRCm39) |
|
probably benign |
Het |
| Snd1 |
C |
A |
6: 28,888,239 (GRCm39) |
N891K |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,433,663 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,646,295 (GRCm39) |
L780Q |
probably damaging |
Het |
| Tacr1 |
G |
A |
6: 82,531,859 (GRCm39) |
V252M |
possibly damaging |
Het |
| Tdrp |
T |
C |
8: 14,003,791 (GRCm39) |
E182G |
probably damaging |
Het |
| Vmn1r58 |
A |
G |
7: 5,413,834 (GRCm39) |
I132T |
probably benign |
Het |
| Wap |
A |
T |
11: 6,586,840 (GRCm39) |
N86K |
probably damaging |
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 |
|
R5413:Dennd2a
|
UTSW |
6 |
39,441,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTTGATGGTAGGCAAGGCAG -3'
(R):5'- CCTTTGTCATCCTGGGAACGAAG -3'
Sequencing Primer
(F):5'- AGAGCATGTGCCACTGAGCTG -3'
(R):5'- TCCTGGGAACGAAGGGTCAAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation