Incidental Mutation 'R7115:Dennd2a'
ID |
551722 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd2a
|
Ensembl Gene |
ENSMUSG00000038456 |
Gene Name |
DENN domain containing 2A |
Synonyms |
B930096L08Rik |
MMRRC Submission |
045206-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.149)
|
Stock # |
R7115 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
39439312-39534801 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 39483645 bp (GRCm39)
|
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: 14,255,589 (GRCm39) |
I636N |
probably benign |
Het |
Adam5 |
A |
G |
8: 25,271,712 (GRCm39) |
I565T |
possibly damaging |
Het |
Amd2 |
C |
A |
10: 35,587,633 (GRCm39) |
|
probably benign |
Het |
Ap5m1 |
T |
A |
14: 49,323,727 (GRCm39) |
Y472* |
probably null |
Het |
Apcdd1 |
T |
C |
18: 63,070,024 (GRCm39) |
F97S |
probably damaging |
Het |
Axdnd1 |
T |
C |
1: 156,208,446 (GRCm39) |
K267R |
|
Het |
Carf |
G |
T |
1: 60,187,309 (GRCm39) |
L637F |
probably damaging |
Het |
Ccdc103 |
A |
T |
11: 102,774,636 (GRCm39) |
S95C |
possibly damaging |
Het |
Cfap20 |
T |
C |
8: 96,147,874 (GRCm39) |
I156V |
probably benign |
Het |
Csn1s2a |
T |
C |
5: 87,929,664 (GRCm39) |
C96R |
probably benign |
Het |
Cspg4b |
T |
G |
13: 113,457,310 (GRCm39) |
S1119A |
|
Het |
Ctif |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC |
18: 75,604,874 (GRCm39) |
|
probably benign |
Het |
Dennd5a |
A |
G |
7: 109,493,961 (GRCm39) |
Y1248H |
probably damaging |
Het |
Dnah14 |
A |
T |
1: 181,547,710 (GRCm39) |
K2504N |
probably damaging |
Het |
Dnajb2 |
G |
A |
1: 75,220,306 (GRCm39) |
G275D |
|
Het |
Elf3 |
T |
G |
1: 135,184,856 (GRCm39) |
D110A |
probably damaging |
Het |
Eomes |
A |
G |
9: 118,313,557 (GRCm39) |
N534S |
probably benign |
Het |
Fry |
A |
T |
5: 150,309,532 (GRCm39) |
R659W |
probably damaging |
Het |
Gm10428 |
G |
A |
11: 62,644,206 (GRCm39) |
C94Y |
unknown |
Het |
Gm2696 |
T |
A |
10: 77,672,133 (GRCm39) |
C111S |
unknown |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,888,247 (GRCm39) |
N2338Y |
|
Het |
Map2k1 |
A |
G |
9: 64,119,888 (GRCm39) |
I139T |
probably damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,598,003 (GRCm39) |
Y79C |
probably benign |
Het |
Or8g20 |
T |
C |
9: 39,395,944 (GRCm39) |
I202V |
probably benign |
Het |
Pxylp1 |
G |
A |
9: 96,707,063 (GRCm39) |
T373I |
probably benign |
Het |
Ranbp9 |
T |
C |
13: 43,560,147 (GRCm39) |
N484S |
probably benign |
Het |
Rassf5 |
A |
G |
1: 131,108,986 (GRCm39) |
V293A |
probably benign |
Het |
Ring1 |
A |
G |
17: 34,242,420 (GRCm39) |
I29T |
probably damaging |
Het |
Scn1a |
G |
A |
2: 66,154,962 (GRCm39) |
Q666* |
probably null |
Het |
Spice1 |
G |
A |
16: 44,199,638 (GRCm39) |
G697R |
probably benign |
Het |
Tas2r131 |
A |
G |
6: 132,934,567 (GRCm39) |
F81L |
probably benign |
Het |
Tenm2 |
G |
A |
11: 36,054,644 (GRCm39) |
S572L |
probably damaging |
Het |
Tfr2 |
A |
G |
5: 137,569,977 (GRCm39) |
T128A |
probably benign |
Het |
Trim56 |
T |
A |
5: 137,142,514 (GRCm39) |
Q334L |
probably damaging |
Het |
Vmn2r44 |
T |
A |
7: 8,370,527 (GRCm39) |
R840* |
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 |
|
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 |
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'- TAATCCACGCTACACTCTGC -3'
(R):5'- GCCAAGATAGGGGCTTAGTG -3'
Sequencing Primer
(F):5'- CAAGATCTCACGGTCTTAGTCAGG -3'
(R):5'- CCAATGCCATGGGATTTGAC -3'
|
Posted On |
2019-05-15 |