Incidental Mutation 'R4135:Dennd2d'
| ID |
314836 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2d
|
| Ensembl Gene |
ENSMUSG00000027901 |
| Gene Name |
DENN domain containing 2D |
| Synonyms |
2010308M01Rik |
| MMRRC Submission |
040995-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4135 (G1)
|
| Quality Score |
119 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
106389745-106410346 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106389977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 2
(D2E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029508
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029508]
[ENSMUST00000149225]
[ENSMUST00000183271]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029508
AA Change: D2E
PolyPhen 2
Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029508
Gene: ENSMUSG00000027901
AA Change: D2E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
|
uDENN
|
47 |
139 |
4.15e-27 |
SMART |
|
DENN
|
146 |
330 |
8.1e-71 |
SMART |
|
dDENN
|
368 |
435 |
3.38e-18 |
SMART |
|
low complexity region
|
447 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139062
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149225
AA Change: D2E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164330
|
| SMART Domains |
Protein: ENSMUSP00000127168
Gene: ENSMUSG00000091575
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
36 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183271
|
| SMART Domains |
Protein: ENSMUSP00000138462
Gene: ENSMUSG00000027901
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
28 |
N/A |
INTRINSIC |
|
uDENN
|
57 |
149 |
4.15e-27 |
SMART |
|
DENN
|
156 |
340 |
8.1e-71 |
SMART |
|
dDENN
|
378 |
445 |
3.38e-18 |
SMART |
|
low complexity region
|
457 |
471 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187757
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189683
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190356
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191570
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191737
|
| Meta Mutation Damage Score |
0.0676 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (47/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,905,092 (GRCm39) |
|
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,240,244 (GRCm39) |
T148S |
possibly damaging |
Het |
| Cdc25a |
C |
A |
9: 109,710,585 (GRCm39) |
H157Q |
possibly damaging |
Het |
| Chst5 |
T |
C |
8: 112,616,816 (GRCm39) |
Y268C |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,130 (GRCm39) |
I145T |
possibly damaging |
Het |
| Ctsr |
T |
C |
13: 61,309,084 (GRCm39) |
T224A |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,336,750 (GRCm39) |
K921E |
probably damaging |
Het |
| Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
| Dock2 |
T |
C |
11: 34,605,328 (GRCm39) |
K264E |
possibly damaging |
Het |
| Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
| Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
| Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm6987 |
T |
A |
X: 93,068,216 (GRCm39) |
|
noncoding transcript |
Het |
| Hbp1 |
A |
T |
12: 31,984,421 (GRCm39) |
L262Q |
probably damaging |
Het |
| Hsd11b2 |
T |
C |
8: 106,249,798 (GRCm39) |
V303A |
probably benign |
Het |
| Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,857,707 (GRCm39) |
D136G |
probably benign |
Het |
| Mrpl32 |
C |
T |
13: 14,787,564 (GRCm39) |
V14M |
probably damaging |
Het |
| Msl1 |
A |
G |
11: 98,687,126 (GRCm39) |
D157G |
possibly damaging |
Het |
| Mthfd1 |
G |
A |
12: 76,329,648 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,117,823 (GRCm39) |
W516R |
possibly damaging |
Het |
| Or2ag1 |
A |
G |
7: 106,313,210 (GRCm39) |
L226P |
probably damaging |
Het |
| Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
| Or2y3 |
A |
G |
17: 38,393,248 (GRCm39) |
V207A |
possibly damaging |
Het |
| Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
| Or5af1 |
C |
A |
11: 58,722,820 (GRCm39) |
T280K |
probably damaging |
Het |
| Pate5 |
A |
G |
9: 35,750,724 (GRCm39) |
S33P |
possibly damaging |
Het |
| Pold3 |
T |
A |
7: 99,749,854 (GRCm39) |
R104* |
probably null |
Het |
| Rapsn |
A |
T |
2: 90,867,162 (GRCm39) |
N155Y |
probably damaging |
Het |
| Rorc |
C |
A |
3: 94,296,826 (GRCm39) |
Q269K |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
| Rusc2 |
G |
A |
4: 43,425,563 (GRCm39) |
D1223N |
possibly damaging |
Het |
| Sema6d |
T |
C |
2: 124,506,040 (GRCm39) |
I616T |
probably damaging |
Het |
| Ttc6 |
T |
A |
12: 57,679,581 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
T |
15: 9,338,810 (GRCm39) |
Y58F |
probably damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
| Washc3 |
G |
A |
10: 88,055,142 (GRCm39) |
E111K |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,355,741 (GRCm39) |
S3501G |
probably benign |
Het |
| Zfp1004 |
A |
T |
2: 150,023,788 (GRCm39) |
|
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,113,261 (GRCm39) |
T467M |
probably damaging |
Het |
| Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
probably damaging |
Het |
|
| Other mutations in Dennd2d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Dennd2d
|
APN |
3 |
106,407,861 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
IGL01397:Dennd2d
|
APN |
3 |
106,394,365 (GRCm39) |
critical splice donor site |
probably null |
0.00 |
|
IGL01410:Dennd2d
|
APN |
3 |
106,398,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02022:Dennd2d
|
APN |
3 |
106,407,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02032:Dennd2d
|
APN |
3 |
106,398,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Dennd2d
|
APN |
3 |
106,402,284 (GRCm39) |
missense |
probably benign |
|
|
R0140:Dennd2d
|
UTSW |
3 |
106,399,799 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0648:Dennd2d
|
UTSW |
3 |
106,407,871 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1519:Dennd2d
|
UTSW |
3 |
106,399,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Dennd2d
|
UTSW |
3 |
106,394,236 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1652:Dennd2d
|
UTSW |
3 |
106,394,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1674:Dennd2d
|
UTSW |
3 |
106,399,833 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2179:Dennd2d
|
UTSW |
3 |
106,399,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Dennd2d
|
UTSW |
3 |
106,407,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4077:Dennd2d
|
UTSW |
3 |
106,389,939 (GRCm39) |
unclassified |
probably benign |
|
|
R4134:Dennd2d
|
UTSW |
3 |
106,389,977 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5214:Dennd2d
|
UTSW |
3 |
106,393,637 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5767:Dennd2d
|
UTSW |
3 |
106,395,131 (GRCm39) |
intron |
probably benign |
|
|
R6001:Dennd2d
|
UTSW |
3 |
106,399,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6239:Dennd2d
|
UTSW |
3 |
106,402,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Dennd2d
|
UTSW |
3 |
106,398,579 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7593:Dennd2d
|
UTSW |
3 |
106,407,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Dennd2d
|
UTSW |
3 |
106,393,580 (GRCm39) |
missense |
probably benign |
|
|
R9103:Dennd2d
|
UTSW |
3 |
106,397,684 (GRCm39) |
missense |
|
|
|
R9341:Dennd2d
|
UTSW |
3 |
106,397,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9343:Dennd2d
|
UTSW |
3 |
106,397,730 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9388:Dennd2d
|
UTSW |
3 |
106,395,915 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Z1088:Dennd2d
|
UTSW |
3 |
106,407,190 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAATGAGATGGTACCGCCC -3'
(R):5'- GCAGATCTGTCCCCTTGTTG -3'
Sequencing Primer
(F):5'- CCGAGAAGAGCGGCCAG -3'
(R):5'- GAGCTCACCTGCCTCCTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation