Incidental Mutation 'IGL02100:Dennd2c'
| ID |
279705 |
| 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 # |
IGL02100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 103060991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 561
(S561N)
|
| 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 damaging
Transcript: ENSMUST00000172288
AA Change: S561N
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: S561N
| 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: S504N
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: S504N
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
A |
T |
3: 36,136,029 (GRCm39) |
Q347L |
probably null |
Het |
| Acvr2a |
T |
C |
2: 48,788,630 (GRCm39) |
|
probably benign |
Het |
| Ankrd28 |
T |
C |
14: 31,449,582 (GRCm39) |
|
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,735,426 (GRCm39) |
Y498C |
probably damaging |
Het |
| Cdh3 |
G |
A |
8: 107,270,322 (GRCm39) |
V400I |
probably benign |
Het |
| Chrnb1 |
G |
T |
11: 69,684,281 (GRCm39) |
|
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,524,177 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
A |
G |
4: 96,124,793 (GRCm39) |
L35P |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,816,988 (GRCm39) |
|
probably benign |
Het |
| Dnai4 |
A |
G |
4: 102,907,346 (GRCm39) |
C647R |
probably damaging |
Het |
| Dynll1 |
A |
C |
5: 115,436,852 (GRCm39) |
V58G |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,755,442 (GRCm39) |
|
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,239,052 (GRCm39) |
S47P |
probably benign |
Het |
| Fam76b |
A |
G |
9: 13,755,416 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,269,941 (GRCm39) |
|
probably benign |
Het |
| Gdi2 |
T |
C |
13: 3,606,373 (GRCm39) |
F140L |
probably benign |
Het |
| Gm28043 |
T |
C |
17: 29,910,400 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
T |
A |
8: 32,227,412 (GRCm39) |
|
noncoding transcript |
Het |
| Gstm6 |
G |
T |
3: 107,849,653 (GRCm39) |
N85K |
probably benign |
Het |
| Hip1r |
C |
T |
5: 124,137,006 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
C |
7: 67,839,706 (GRCm39) |
I671T |
probably benign |
Het |
| Insrr |
T |
G |
3: 87,718,927 (GRCm39) |
F961C |
probably damaging |
Het |
| Kbtbd8 |
T |
C |
6: 95,099,663 (GRCm39) |
Y314H |
probably damaging |
Het |
| Kif26b |
C |
A |
1: 178,743,512 (GRCm39) |
L756I |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,547,193 (GRCm39) |
R259Q |
possibly damaging |
Het |
| Mad1l1 |
T |
A |
5: 140,129,689 (GRCm39) |
S449C |
probably damaging |
Het |
| Map1a |
T |
G |
2: 121,133,327 (GRCm39) |
L1381R |
probably damaging |
Het |
| Mdn1 |
G |
T |
4: 32,715,708 (GRCm39) |
V1992L |
possibly damaging |
Het |
| Pigp |
G |
A |
16: 94,165,626 (GRCm39) |
Q99* |
probably null |
Het |
| Pip4p2 |
T |
C |
4: 14,893,536 (GRCm39) |
I133T |
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,568,469 (GRCm39) |
|
probably null |
Het |
| Rnf170 |
T |
A |
8: 26,614,012 (GRCm39) |
L36H |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,599,807 (GRCm39) |
S1004G |
probably benign |
Het |
| Rpl10a-ps2 |
T |
C |
13: 8,990,779 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,752,759 (GRCm39) |
E1854V |
possibly damaging |
Het |
| Scn7a |
T |
G |
2: 66,505,843 (GRCm39) |
*1682S |
probably null |
Het |
| Sema3d |
A |
G |
5: 12,634,958 (GRCm39) |
T675A |
probably benign |
Het |
| Slc1a2 |
T |
C |
2: 102,586,434 (GRCm39) |
F346S |
probably damaging |
Het |
| St14 |
G |
T |
9: 31,011,426 (GRCm39) |
|
probably benign |
Het |
| Stard5 |
T |
C |
7: 83,289,653 (GRCm39) |
V173A |
possibly damaging |
Het |
| Taf1b |
A |
G |
12: 24,594,394 (GRCm39) |
Y309C |
possibly damaging |
Het |
| Tet1 |
T |
C |
10: 62,648,507 (GRCm39) |
N1975S |
possibly damaging |
Het |
| Them5 |
T |
A |
3: 94,251,782 (GRCm39) |
I131N |
probably damaging |
Het |
| Tnc |
A |
C |
4: 63,918,398 (GRCm39) |
V1171G |
possibly damaging |
Het |
| Ttc12 |
C |
A |
9: 49,351,482 (GRCm39) |
G672W |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,579,774 (GRCm39) |
|
probably benign |
Het |
| Utp4 |
A |
G |
8: 107,624,807 (GRCm39) |
N92S |
probably benign |
Het |
| Was |
A |
T |
X: 7,956,554 (GRCm39) |
F38L |
possibly 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 |
|
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 |
2015-04-16 |
Incidental Mutation