Incidental Mutation 'IGL02631:Dennd2c'
| ID |
301302 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dennd2c
|
| Ensembl Gene |
ENSMUSG00000007379 |
| Gene Name |
DENN domain containing 2C |
| Synonyms |
A930010I20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02631
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103063387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 608
(M608K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172288]
[ENSMUST00000173206]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166143
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172288
AA Change: M608K
PolyPhen 2
Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: M608K
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
481 |
571 |
1.01e-25 |
SMART |
|
DENN
|
578 |
762 |
3.36e-77 |
SMART |
|
dDENN
|
806 |
873 |
1.15e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173206
AA Change: M551K
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: M551K
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
424 |
514 |
1.01e-25 |
SMART |
|
DENN
|
521 |
705 |
3.36e-77 |
SMART |
|
dDENN
|
749 |
816 |
1.15e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174486
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b2 |
A |
G |
6: 113,725,506 (GRCm39) |
S1242P |
probably damaging |
Het |
| Bglap |
A |
T |
3: 88,290,987 (GRCm39) |
Y81* |
probably null |
Het |
| Ccdc83 |
T |
C |
7: 89,893,277 (GRCm39) |
D160G |
possibly damaging |
Het |
| Cep97 |
A |
T |
16: 55,742,541 (GRCm39) |
C135* |
probably null |
Het |
| Cog1 |
C |
T |
11: 113,547,304 (GRCm39) |
Q633* |
probably null |
Het |
| Cyp4f40 |
A |
T |
17: 32,894,609 (GRCm39) |
|
probably benign |
Het |
| Enpp1 |
A |
G |
10: 24,517,859 (GRCm39) |
S855P |
probably damaging |
Het |
| Eprs1 |
T |
C |
1: 185,160,095 (GRCm39) |
I1457T |
probably damaging |
Het |
| Fam149b |
G |
A |
14: 20,425,614 (GRCm39) |
V300M |
probably damaging |
Het |
| Fcgbp |
T |
A |
7: 27,784,723 (GRCm39) |
L261Q |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,610,384 (GRCm39) |
S413* |
probably null |
Het |
| Flt3 |
T |
G |
5: 147,281,362 (GRCm39) |
D790A |
probably damaging |
Het |
| Gpat2 |
A |
G |
2: 127,276,152 (GRCm39) |
|
probably benign |
Het |
| Gpr151 |
T |
C |
18: 42,711,835 (GRCm39) |
K281R |
probably benign |
Het |
| Hoxa5 |
G |
A |
6: 52,180,790 (GRCm39) |
R181C |
probably damaging |
Het |
| Irx4 |
C |
T |
13: 73,416,596 (GRCm39) |
R331W |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,811,432 (GRCm39) |
I155T |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,459,276 (GRCm39) |
R1944C |
probably damaging |
Het |
| Obp2b |
A |
G |
2: 25,629,255 (GRCm39) |
N141S |
probably damaging |
Het |
| Or4c10b |
T |
A |
2: 89,711,599 (GRCm39) |
V143E |
possibly damaging |
Het |
| Or4c3d |
T |
A |
2: 89,881,786 (GRCm39) |
N294I |
probably damaging |
Het |
| Papss2 |
T |
A |
19: 32,611,404 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
T |
3: 78,990,533 (GRCm39) |
M915K |
possibly damaging |
Het |
| Raver2 |
A |
C |
4: 100,953,499 (GRCm39) |
D89A |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Setd2 |
A |
G |
9: 110,379,644 (GRCm39) |
D1153G |
possibly damaging |
Het |
| Slc25a12 |
C |
T |
2: 71,127,086 (GRCm39) |
G365E |
possibly damaging |
Het |
| Slc35e4 |
A |
C |
11: 3,857,729 (GRCm39) |
V292G |
probably damaging |
Het |
| Slc36a4 |
T |
C |
9: 15,638,237 (GRCm39) |
V221A |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,292,827 (GRCm39) |
A153S |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,204 (GRCm39) |
D658G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tab3 |
A |
G |
X: 84,658,139 (GRCm39) |
N222S |
probably benign |
Het |
| Tdrd6 |
T |
A |
17: 43,937,110 (GRCm39) |
T1313S |
probably damaging |
Het |
| Tnfrsf1b |
A |
T |
4: 144,951,398 (GRCm39) |
C181S |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,239,972 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,743,729 (GRCm39) |
V526E |
possibly damaging |
Het |
| Trps1 |
T |
C |
15: 50,709,417 (GRCm39) |
D311G |
probably damaging |
Het |
| Ttf1 |
A |
G |
2: 28,959,912 (GRCm39) |
I507V |
probably damaging |
Het |
| Unc80 |
A |
C |
1: 66,569,222 (GRCm39) |
D959A |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,992,026 (GRCm39) |
|
probably benign |
Het |
| Utrn |
A |
G |
10: 12,585,807 (GRCm39) |
F990S |
probably benign |
Het |
| V1rd19 |
T |
C |
7: 23,702,825 (GRCm39) |
L97P |
probably damaging |
Het |
|
| Other mutations in Dennd2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01763:Dennd2c
|
APN |
3 |
103,064,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01791:Dennd2c
|
APN |
3 |
103,073,741 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02100:Dennd2c
|
APN |
3 |
103,060,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02119:Dennd2c
|
APN |
3 |
103,044,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02395:Dennd2c
|
APN |
3 |
103,065,081 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02895:Dennd2c
|
APN |
3 |
103,044,519 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
convolution
|
UTSW |
3 |
103,063,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Resolution
|
UTSW |
3 |
103,040,661 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1749:Dennd2c
|
UTSW |
3 |
103,039,352 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1931:Dennd2c
|
UTSW |
3 |
103,040,568 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1964:Dennd2c
|
UTSW |
3 |
103,073,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1972:Dennd2c
|
UTSW |
3 |
103,039,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1973:Dennd2c
|
UTSW |
3 |
103,039,014 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2025:Dennd2c
|
UTSW |
3 |
103,039,005 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2350:Dennd2c
|
UTSW |
3 |
103,039,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2373:Dennd2c
|
UTSW |
3 |
103,064,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4555:Dennd2c
|
UTSW |
3 |
103,039,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4916:Dennd2c
|
UTSW |
3 |
103,039,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Dennd2c
|
UTSW |
3 |
103,068,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6291:Dennd2c
|
UTSW |
3 |
103,038,925 (GRCm39) |
nonsense |
probably null |
|
|
R6395:Dennd2c
|
UTSW |
3 |
103,056,540 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6567:Dennd2c
|
UTSW |
3 |
103,039,335 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6681:Dennd2c
|
UTSW |
3 |
103,038,977 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7106:Dennd2c
|
UTSW |
3 |
103,038,893 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7162:Dennd2c
|
UTSW |
3 |
103,063,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7514:Dennd2c
|
UTSW |
3 |
103,070,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7591:Dennd2c
|
UTSW |
3 |
103,040,661 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7698:Dennd2c
|
UTSW |
3 |
103,072,359 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8069:Dennd2c
|
UTSW |
3 |
103,072,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Dennd2c
|
UTSW |
3 |
103,040,661 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8247:Dennd2c
|
UTSW |
3 |
103,059,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8347:Dennd2c
|
UTSW |
3 |
103,065,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8829:Dennd2c
|
UTSW |
3 |
103,059,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8832:Dennd2c
|
UTSW |
3 |
103,059,720 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9131:Dennd2c
|
UTSW |
3 |
103,065,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Dennd2c
|
UTSW |
3 |
103,038,877 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9350:Dennd2c
|
UTSW |
3 |
103,039,308 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9520:Dennd2c
|
UTSW |
3 |
103,044,484 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation