Incidental Mutation 'IGL01791:Dennd2c'
ID |
155214 |
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 # |
IGL01791
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103073741 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 829
(V829A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134008
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172288]
[ENSMUST00000173206]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000172288
AA Change: V886A
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000127187 Gene: ENSMUSG00000007379 AA Change: V886A
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: V829A
PolyPhen 2
Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000134008 Gene: ENSMUSG00000007379 AA Change: V829A
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
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap32 |
A |
G |
9: 32,158,486 (GRCm39) |
I174V |
probably damaging |
Het |
Asb15 |
T |
A |
6: 24,567,211 (GRCm39) |
C511S |
probably damaging |
Het |
Atr |
C |
T |
9: 95,803,834 (GRCm39) |
A1896V |
probably benign |
Het |
B3gnt4 |
C |
T |
5: 123,649,162 (GRCm39) |
R176C |
probably damaging |
Het |
Brf1 |
T |
C |
12: 112,926,095 (GRCm39) |
D557G |
probably benign |
Het |
Catsperg2 |
T |
A |
7: 29,404,090 (GRCm39) |
|
probably null |
Het |
Cdip1 |
A |
G |
16: 4,586,729 (GRCm39) |
I122T |
probably damaging |
Het |
Ctrl |
C |
T |
8: 106,659,199 (GRCm39) |
E147K |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,625,364 (GRCm39) |
L3874Q |
probably damaging |
Het |
Dynlt4 |
T |
A |
4: 116,985,794 (GRCm39) |
S206T |
probably damaging |
Het |
Gm10521 |
T |
C |
1: 171,723,964 (GRCm39) |
S92P |
unknown |
Het |
Gm57858 |
T |
C |
3: 36,089,416 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
G |
A |
2: 148,525,981 (GRCm39) |
A151T |
probably benign |
Het |
Hddc2 |
A |
G |
10: 31,202,022 (GRCm39) |
Y123C |
probably damaging |
Het |
Hyal4 |
T |
C |
6: 24,763,894 (GRCm39) |
|
probably benign |
Het |
Ighv16-1 |
T |
C |
12: 114,032,589 (GRCm39) |
N71S |
probably benign |
Het |
Ing2 |
A |
T |
8: 48,122,070 (GRCm39) |
S159R |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,124,197 (GRCm39) |
N698K |
probably benign |
Het |
Lemd2 |
A |
T |
17: 27,409,702 (GRCm39) |
I483N |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,887 (GRCm39) |
L519P |
probably damaging |
Het |
Mapk10 |
T |
C |
5: 103,144,514 (GRCm39) |
N101S |
probably damaging |
Het |
Nfatc4 |
A |
T |
14: 56,069,695 (GRCm39) |
E164V |
probably null |
Het |
Nfkb2 |
T |
G |
19: 46,298,278 (GRCm39) |
|
probably benign |
Het |
Nox3 |
A |
G |
17: 3,733,218 (GRCm39) |
V231A |
possibly damaging |
Het |
Nup160 |
G |
A |
2: 90,534,197 (GRCm39) |
G674D |
probably damaging |
Het |
Or1l4b |
A |
T |
2: 37,036,548 (GRCm39) |
D108V |
probably damaging |
Het |
Or56b1 |
C |
T |
7: 104,285,682 (GRCm39) |
T267I |
possibly damaging |
Het |
Otoa |
T |
G |
7: 120,755,072 (GRCm39) |
V998G |
probably benign |
Het |
Pcnx3 |
A |
T |
19: 5,723,295 (GRCm39) |
M1300K |
probably benign |
Het |
Pde4b |
A |
G |
4: 102,448,127 (GRCm39) |
|
probably benign |
Het |
Rfc1 |
T |
A |
5: 65,420,488 (GRCm39) |
K1104I |
probably benign |
Het |
Serpina1f |
G |
T |
12: 103,659,761 (GRCm39) |
Q174K |
probably damaging |
Het |
Serping1 |
T |
C |
2: 84,603,721 (GRCm39) |
N107D |
possibly damaging |
Het |
Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
Surf6 |
A |
G |
2: 26,789,759 (GRCm39) |
S94P |
probably benign |
Het |
Tigd4 |
T |
A |
3: 84,502,052 (GRCm39) |
I323N |
probably damaging |
Het |
Vmn2r28 |
T |
C |
7: 5,491,161 (GRCm39) |
D362G |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,085,278 (GRCm39) |
S739P |
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 |
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 |
|
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 |
2014-02-04 |