Incidental Mutation 'R4555:Dennd2c'
| ID |
341831 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4555 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103039202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 117
(V117I)
|
| 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 |
probably benign
Transcript: ENSMUST00000172288
AA Change: V117I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: V117I
| 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 |
probably benign
Transcript: ENSMUST00000173206
AA Change: V117I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: V117I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830005F24Rik |
T |
C |
13: 48,667,937 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
A |
T |
7: 66,677,641 (GRCm39) |
E518D |
probably damaging |
Het |
| Afp |
T |
G |
5: 90,654,546 (GRCm39) |
I528S |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,812,755 (GRCm39) |
D2407G |
possibly damaging |
Het |
| Cyp19a1 |
T |
C |
9: 54,074,105 (GRCm39) |
E483G |
probably damaging |
Het |
| Inha |
C |
T |
1: 75,486,227 (GRCm39) |
P174L |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,387,763 (GRCm39) |
R746G |
probably damaging |
Het |
| Ndufaf7 |
T |
C |
17: 79,249,516 (GRCm39) |
S138P |
probably benign |
Het |
| Osmr |
T |
C |
15: 6,845,201 (GRCm39) |
Q855R |
possibly damaging |
Het |
| Pip4k2a |
C |
T |
2: 18,877,103 (GRCm39) |
D211N |
probably damaging |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,085 (GRCm39) |
Q135R |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,300,310 (GRCm39) |
T1591K |
probably damaging |
Het |
| Rdh19 |
T |
A |
10: 127,686,020 (GRCm39) |
L44Q |
probably benign |
Het |
| Rom1 |
T |
C |
19: 8,905,380 (GRCm39) |
T267A |
possibly damaging |
Het |
| Smad3 |
C |
T |
9: 63,562,070 (GRCm39) |
V108I |
possibly damaging |
Het |
| Sptb |
A |
C |
12: 76,659,625 (GRCm39) |
S1092A |
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,365,052 (GRCm39) |
N407D |
probably benign |
Het |
| Tmc5 |
T |
C |
7: 118,269,956 (GRCm39) |
I902T |
probably benign |
Het |
| Ugt1a6a |
C |
T |
1: 88,066,349 (GRCm39) |
R52* |
probably null |
Het |
| Usp54 |
C |
T |
14: 20,611,090 (GRCm39) |
R1242H |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,285,496 (GRCm39) |
V813A |
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 |
|
IGL02631:Dennd2c
|
APN |
3 |
103,063,387 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAAGTTTCACCCAAAGGAC -3'
(R):5'- CCAGAACACTGAGATCCGGTTC -3'
Sequencing Primer
(F):5'- ACTTTGGAGTGAGGTATAACTGCCAC -3'
(R):5'- GGTTCTCTCCCTGTAGAGTTACAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation