Incidental Mutation 'R2373:Dennd2c'
| ID |
248198 |
| 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 # |
R2373 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103064158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 658
(H658R)
|
| 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: H658R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: H658R
| 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 |
possibly damaging
Transcript: ENSMUST00000173206
AA Change: H601R
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: H601R
| 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 |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 9130023H24Rik |
A |
T |
7: 127,836,487 (GRCm39) |
D35E |
probably benign |
Het |
| 9330159F19Rik |
A |
G |
10: 29,101,039 (GRCm39) |
N471D |
probably benign |
Het |
| Ahctf1 |
A |
T |
1: 179,623,361 (GRCm39) |
F86I |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,457 (GRCm39) |
T849A |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,244,367 (GRCm39) |
D965E |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,243,820 (GRCm39) |
T1458A |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 179,939,349 (GRCm39) |
M876L |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,719,751 (GRCm39) |
R2450H |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,564,095 (GRCm39) |
V1710E |
probably benign |
Het |
| Corin |
G |
A |
5: 72,496,381 (GRCm39) |
S524L |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,343,252 (GRCm39) |
V553A |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,457 (GRCm39) |
F81S |
probably benign |
Het |
| Emc2 |
T |
A |
15: 43,377,154 (GRCm39) |
I239N |
probably damaging |
Het |
| Fhip1a |
C |
T |
3: 85,583,404 (GRCm39) |
W464* |
probably null |
Het |
| Fzd5 |
C |
T |
1: 64,774,066 (GRCm39) |
G565D |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,146,839 (GRCm39) |
F267S |
probably benign |
Het |
| Kif14 |
C |
A |
1: 136,407,583 (GRCm39) |
A46E |
probably damaging |
Het |
| Mta3 |
G |
T |
17: 84,091,730 (GRCm39) |
E179* |
probably null |
Het |
| Ninl |
T |
G |
2: 150,822,037 (GRCm39) |
T22P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,480,190 (GRCm39) |
N2039S |
probably damaging |
Het |
| Rc3h2 |
A |
G |
2: 37,269,013 (GRCm39) |
S818P |
possibly damaging |
Het |
| Scn11a |
T |
A |
9: 119,642,252 (GRCm39) |
E162D |
probably benign |
Het |
| Slc5a7 |
A |
T |
17: 54,584,154 (GRCm39) |
W379R |
probably damaging |
Het |
| Sptb |
C |
T |
12: 76,667,935 (GRCm39) |
V721M |
probably damaging |
Het |
| Vmn1r82 |
T |
A |
7: 12,038,982 (GRCm39) |
V85E |
probably damaging |
Het |
| Vmn2r130 |
T |
C |
17: 23,280,480 (GRCm39) |
I47T |
possibly damaging |
Het |
| Vmn2r93 |
T |
A |
17: 18,518,665 (GRCm39) |
F41L |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCATAAACCCTTTGTGCCACAC -3'
(R):5'- GTACAGAAGCCTTTCAATTTCTTTC -3'
Sequencing Primer
(F):5'- AGAACTCTCTGTAGTCCAGGCTG -3'
(R):5'- CAATTAGTGAGTCAGGTCTCTAGCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation