Incidental Mutation 'R6567:Dennd2c'
ID |
522723 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd2c
|
Ensembl Gene |
ENSMUSG00000007379 |
Gene Name |
DENN domain containing 2C |
Synonyms |
A930010I20Rik |
MMRRC Submission |
044691-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6567 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 103039335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 161
(A161V)
|
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: A161V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000127187 Gene: ENSMUSG00000007379 AA Change: A161V
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: A161V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000134008 Gene: ENSMUSG00000007379 AA Change: A161V
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 |
|
Meta Mutation Damage Score |
0.0679 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
Nif3l1 |
T |
A |
1: 58,494,789 (GRCm39) |
C253S |
probably benign |
Het |
Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
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 |
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 |
|
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'- CGGATGTCAAAAGCCGAGATC -3'
(R):5'- TTCGGGATCCTGAGAAGAGG -3'
Sequencing Primer
(F):5'- AGAGTGTAGAGGCTCCCAC -3'
(R):5'- CACAGTACTTTTGATCACAGTTCC -3'
|
Posted On |
2018-06-06 |