Incidental Mutation 'IGL02895:Dennd2c'
| ID |
363382 |
| 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 # |
IGL02895
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103044519 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 367
(Y367H)
|
| 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: Y367H
PolyPhen 2
Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: Y367H
| 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
|
| SMART Domains |
Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,621,376 (GRCm39) |
E130K |
probably damaging |
Het |
| Atf7ip |
C |
A |
6: 136,537,686 (GRCm39) |
S306R |
probably damaging |
Het |
| Cpd |
A |
G |
11: 76,676,029 (GRCm39) |
V1208A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,261,591 (GRCm39) |
|
probably benign |
Het |
| Ctsl |
C |
T |
13: 64,514,326 (GRCm39) |
A195T |
probably damaging |
Het |
| Endod1 |
T |
A |
9: 14,268,166 (GRCm39) |
T440S |
probably benign |
Het |
| Gm12695 |
T |
C |
4: 96,612,186 (GRCm39) |
R526G |
probably damaging |
Het |
| Ighv1-39 |
T |
C |
12: 114,878,302 (GRCm39) |
T90A |
probably damaging |
Het |
| Kdm2a |
G |
A |
19: 4,412,930 (GRCm39) |
R19C |
probably damaging |
Het |
| Klra1 |
C |
T |
6: 130,352,203 (GRCm39) |
E180K |
possibly damaging |
Het |
| Odam |
A |
G |
5: 88,033,723 (GRCm39) |
Q21R |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,986 (GRCm39) |
Y175C |
probably damaging |
Het |
| Or8b8 |
G |
A |
9: 37,809,278 (GRCm39) |
V193I |
probably benign |
Het |
| Plk1 |
A |
G |
7: 121,768,389 (GRCm39) |
E504G |
possibly damaging |
Het |
| Rtl3 |
T |
C |
X: 105,883,150 (GRCm39) |
I37M |
possibly damaging |
Het |
| Srebf2 |
A |
G |
15: 82,031,668 (GRCm39) |
E22G |
possibly damaging |
Het |
| Tmem74b |
A |
G |
2: 151,548,311 (GRCm39) |
S13G |
probably benign |
Het |
| Utp14b |
T |
C |
1: 78,642,324 (GRCm39) |
V74A |
possibly damaging |
Het |
| Znrf3 |
T |
C |
11: 5,239,085 (GRCm39) |
M93V |
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 |
|
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 |
2015-12-18 |
Incidental Mutation