Incidental Mutation 'R7115:Dennd2a'
| ID |
551722 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2a
|
| Ensembl Gene |
ENSMUSG00000038456 |
| Gene Name |
DENN/MADD domain containing 2A |
| Synonyms |
|
| MMRRC Submission |
045206-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R7115 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
39462378-39557867 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 39506711 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 405
(T405M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036877]
[ENSMUST00000154149]
|
| AlphaFold |
Q8C4S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036877
AA Change: T405M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045367
Gene: ENSMUSG00000038456
AA Change: T405M
| 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 damaging
Transcript: ENSMUST00000154149
AA Change: T405M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116907
Gene: ENSMUSG00000038456
AA Change: T405M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DENN
|
9 |
420 |
1e-152 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
A |
16: 14,437,725 (GRCm38) |
I636N |
probably benign |
Het |
| Adam5 |
A |
G |
8: 24,781,696 (GRCm38) |
I565T |
possibly damaging |
Het |
| Amd2 |
C |
A |
10: 35,711,637 (GRCm38) |
|
probably benign |
Het |
| Ap5m1 |
T |
A |
14: 49,086,270 (GRCm38) |
Y472* |
probably null |
Het |
| Apcdd1 |
T |
C |
18: 62,936,953 (GRCm38) |
F97S |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,380,876 (GRCm38) |
K267R |
|
Het |
| Carf |
G |
T |
1: 60,148,150 (GRCm38) |
L637F |
probably damaging |
Het |
| Ccdc103 |
A |
T |
11: 102,883,810 (GRCm38) |
S95C |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 95,421,246 (GRCm38) |
I156V |
probably benign |
Het |
| Csn1s2a |
T |
C |
5: 87,781,805 (GRCm38) |
C96R |
probably benign |
Het |
| Cspg4b |
T |
G |
13: 113,320,776 (GRCm38) |
S1119A |
|
Het |
| Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,471,803 (GRCm38) |
|
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,894,754 (GRCm38) |
Y1248H |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,720,145 (GRCm38) |
K2504N |
probably damaging |
Het |
| Dnajb2 |
G |
A |
1: 75,243,662 (GRCm38) |
G275D |
|
Het |
| Elf3 |
T |
G |
1: 135,257,118 (GRCm38) |
D110A |
probably damaging |
Het |
| Eomes |
A |
G |
9: 118,484,489 (GRCm38) |
N534S |
probably benign |
Het |
| Fry |
A |
T |
5: 150,386,067 (GRCm38) |
R659W |
probably damaging |
Het |
| Gm10428 |
G |
A |
11: 62,753,380 (GRCm38) |
C94Y |
unknown |
Het |
| Gm2696 |
T |
A |
10: 77,836,299 (GRCm38) |
C111S |
unknown |
Het |
| Gpt2 |
G |
A |
8: 85,518,052 (GRCm38) |
E325K |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,998,235 (GRCm38) |
N2338Y |
|
Het |
| Map2k1 |
A |
G |
9: 64,212,606 (GRCm38) |
I139T |
probably damaging |
Het |
| Or10n7-ps1 |
T |
C |
9: 39,686,707 (GRCm38) |
Y79C |
probably benign |
Het |
| Or8g20 |
T |
C |
9: 39,484,648 (GRCm38) |
I202V |
probably benign |
Het |
| Pxylp1 |
G |
A |
9: 96,825,010 (GRCm38) |
T373I |
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,406,671 (GRCm38) |
N484S |
probably benign |
Het |
| Rassf5 |
A |
G |
1: 131,181,249 (GRCm38) |
V293A |
probably benign |
Het |
| Ring1 |
A |
G |
17: 34,023,446 (GRCm38) |
I29T |
probably damaging |
Het |
| Scn1a |
G |
A |
2: 66,324,618 (GRCm38) |
Q666* |
probably null |
Het |
| Spice1 |
G |
A |
16: 44,379,275 (GRCm38) |
G697R |
probably benign |
Het |
| Tas2r131 |
A |
G |
6: 132,957,604 (GRCm38) |
F81L |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 36,163,817 (GRCm38) |
S572L |
probably damaging |
Het |
| Tfr2 |
A |
G |
5: 137,571,715 (GRCm38) |
T128A |
probably benign |
Het |
| Trim56 |
T |
A |
5: 137,113,660 (GRCm38) |
Q334L |
probably damaging |
Het |
| Vmn2r44 |
T |
A |
7: 8,367,528 (GRCm38) |
R840* |
probably null |
Het |
|
| Other mutations in Dennd2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01385:Dennd2a
|
APN |
6 |
39,523,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01482:Dennd2a
|
APN |
6 |
39,480,309 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02135:Dennd2a
|
APN |
6 |
39,480,271 (GRCm38) |
nonsense |
probably null |
|
|
IGL02206:Dennd2a
|
APN |
6 |
39,523,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02649:Dennd2a
|
APN |
6 |
39,470,356 (GRCm38) |
missense |
probably benign |
0.11 |
|
IGL03057:Dennd2a
|
APN |
6 |
39,508,248 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0310:Dennd2a
|
UTSW |
6 |
39,464,201 (GRCm38) |
splice site |
probably benign |
|
|
R0326:Dennd2a
|
UTSW |
6 |
39,497,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0360:Dennd2a
|
UTSW |
6 |
39,508,299 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0364:Dennd2a
|
UTSW |
6 |
39,508,299 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0394:Dennd2a
|
UTSW |
6 |
39,522,812 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0680:Dennd2a
|
UTSW |
6 |
39,483,062 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1741:Dennd2a
|
UTSW |
6 |
39,493,157 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1744:Dennd2a
|
UTSW |
6 |
39,480,251 (GRCm38) |
missense |
probably benign |
0.26 |
|
R2070:Dennd2a
|
UTSW |
6 |
39,465,119 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3833:Dennd2a
|
UTSW |
6 |
39,506,723 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3833:Dennd2a
|
UTSW |
6 |
39,506,717 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4120:Dennd2a
|
UTSW |
6 |
39,465,096 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4583:Dennd2a
|
UTSW |
6 |
39,522,842 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4842:Dennd2a
|
UTSW |
6 |
39,497,110 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4887:Dennd2a
|
UTSW |
6 |
39,497,159 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4901:Dennd2a
|
UTSW |
6 |
39,522,687 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5065:Dennd2a
|
UTSW |
6 |
39,495,176 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5413:Dennd2a
|
UTSW |
6 |
39,464,293 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6181:Dennd2a
|
UTSW |
6 |
39,485,620 (GRCm38) |
missense |
probably benign |
0.14 |
|
R6239:Dennd2a
|
UTSW |
6 |
39,488,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6360:Dennd2a
|
UTSW |
6 |
39,493,142 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7419:Dennd2a
|
UTSW |
6 |
39,523,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7567:Dennd2a
|
UTSW |
6 |
39,522,809 (GRCm38) |
missense |
probably benign |
|
|
R7587:Dennd2a
|
UTSW |
6 |
39,483,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7662:Dennd2a
|
UTSW |
6 |
39,493,103 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7781:Dennd2a
|
UTSW |
6 |
39,493,066 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7962:Dennd2a
|
UTSW |
6 |
39,480,273 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8683:Dennd2a
|
UTSW |
6 |
39,523,203 (GRCm38) |
nonsense |
probably null |
|
|
R8961:Dennd2a
|
UTSW |
6 |
39,485,621 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9424:Dennd2a
|
UTSW |
6 |
39,508,360 (GRCm38) |
nonsense |
probably null |
|
|
R9765:Dennd2a
|
UTSW |
6 |
39,496,973 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9767:Dennd2a
|
UTSW |
6 |
39,506,775 (GRCm38) |
missense |
probably damaging |
0.98 |
|
X0026:Dennd2a
|
UTSW |
6 |
39,508,367 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
Z1177:Dennd2a
|
UTSW |
6 |
39,523,474 (GRCm38) |
missense |
probably benign |
0.38 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAATCCACGCTACACTCTGC -3'
(R):5'- GCCAAGATAGGGGCTTAGTG -3'
Sequencing Primer
(F):5'- CAAGATCTCACGGTCTTAGTCAGG -3'
(R):5'- CCAATGCCATGGGATTTGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation