Incidental Mutation 'R8086:Dennd2c'
| ID |
629640 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd2c
|
| Ensembl Gene |
ENSMUSG00000007379 |
| Gene Name |
DENN domain containing 2C |
| Synonyms |
A930010I20Rik |
| MMRRC Submission |
067519-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
103009954-103077054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103040661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 309
(Y309N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127187
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000172288]
[ENSMUST00000173206]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172288
AA Change: Y309N
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127187
Gene: ENSMUSG00000007379
AA Change: Y309N
| 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: Y309N
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000134008
Gene: ENSMUSG00000007379
AA Change: Y309N
| 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 |
0.1462 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,808 (GRCm39) |
H372L |
|
Het |
| Abcb1a |
A |
T |
5: 8,724,833 (GRCm39) |
T89S |
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,354,774 (GRCm39) |
V146A |
probably benign |
Het |
| App |
T |
C |
16: 84,917,428 (GRCm39) |
Y72C |
unknown |
Het |
| Arhgap20 |
T |
C |
9: 51,760,563 (GRCm39) |
S805P |
probably benign |
Het |
| Bak1 |
T |
A |
17: 27,239,911 (GRCm39) |
R208S |
probably benign |
Het |
| Btnl4 |
A |
C |
17: 34,692,976 (GRCm39) |
|
probably null |
Het |
| Cacng7 |
T |
C |
7: 3,387,518 (GRCm39) |
S134P |
probably benign |
Het |
| Capn9 |
A |
T |
8: 125,334,692 (GRCm39) |
|
probably null |
Het |
| Cox4i1 |
T |
A |
8: 121,400,779 (GRCm39) |
M148K |
probably damaging |
Het |
| Ctnna1 |
A |
G |
18: 35,285,713 (GRCm39) |
I20V |
possibly damaging |
Het |
| Dnah14 |
C |
A |
1: 181,593,797 (GRCm39) |
T3380K |
probably damaging |
Het |
| Dnajc3 |
G |
T |
14: 119,208,192 (GRCm39) |
E276* |
probably null |
Het |
| Dock10 |
C |
A |
1: 80,481,707 (GRCm39) |
C1772F |
probably benign |
Het |
| Fank1 |
A |
T |
7: 133,454,959 (GRCm39) |
E26D |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,813,389 (GRCm39) |
C2308F |
probably damaging |
Het |
| Fyco1 |
A |
T |
9: 123,659,471 (GRCm39) |
M235K |
probably damaging |
Het |
| Gm7361 |
C |
T |
5: 26,465,446 (GRCm39) |
R148C |
probably damaging |
Het |
| Hinfp |
C |
T |
9: 44,210,286 (GRCm39) |
R183Q |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,314,252 (GRCm39) |
Y221C |
probably benign |
Het |
| Hrnr |
A |
T |
3: 93,230,728 (GRCm39) |
H322L |
unknown |
Het |
| Il6st |
T |
A |
13: 112,631,094 (GRCm39) |
|
probably null |
Het |
| Impa1 |
T |
C |
3: 10,387,988 (GRCm39) |
K145E |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,679,869 (GRCm39) |
M847L |
probably benign |
Het |
| Itgb6 |
A |
G |
2: 60,480,376 (GRCm39) |
V320A |
probably damaging |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,630 (GRCm39) |
H678Q |
probably benign |
Het |
| Mettl16 |
A |
G |
11: 74,696,091 (GRCm39) |
T311A |
probably benign |
Het |
| Nefl |
T |
C |
14: 68,323,480 (GRCm39) |
Y369H |
probably damaging |
Het |
| Or1d2 |
C |
A |
11: 74,255,780 (GRCm39) |
P95Q |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,800,188 (GRCm39) |
Y2983C |
probably damaging |
Het |
| Potegl |
A |
G |
2: 23,130,934 (GRCm39) |
|
probably null |
Het |
| Prr5l |
C |
T |
2: 101,571,709 (GRCm39) |
E123K |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,482,500 (GRCm39) |
Y1024* |
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,138,762 (GRCm39) |
L147Q |
probably damaging |
Het |
| Rassf1 |
C |
T |
9: 107,435,173 (GRCm39) |
R223C |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,411,305 (GRCm39) |
F357L |
probably damaging |
Het |
| Rnf24 |
A |
G |
2: 131,145,468 (GRCm39) |
V114A |
probably benign |
Het |
| Slc7a1 |
T |
G |
5: 148,288,899 (GRCm39) |
N116T |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,998 (GRCm39) |
C306R |
probably damaging |
Het |
| Tatdn2 |
T |
C |
6: 113,686,482 (GRCm39) |
S697P |
probably damaging |
Het |
| Tmem67 |
T |
A |
4: 12,040,738 (GRCm39) |
N935I |
probably damaging |
Het |
| Trp73 |
G |
A |
4: 154,201,052 (GRCm39) |
P4S |
unknown |
Het |
| Vmn1r237 |
T |
G |
17: 21,534,509 (GRCm39) |
D77E |
possibly damaging |
Het |
| Vmn1r238 |
C |
T |
18: 3,123,250 (GRCm39) |
A55T |
probably damaging |
Het |
| Vsig10l |
C |
A |
7: 43,114,876 (GRCm39) |
A359E |
possibly damaging |
Het |
| Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
| Zbtb25 |
A |
G |
12: 76,395,923 (GRCm39) |
V433A |
probably benign |
Het |
| Zfp180 |
C |
A |
7: 23,805,535 (GRCm39) |
D651E |
probably benign |
Het |
| Zfp979 |
T |
C |
4: 147,698,004 (GRCm39) |
D235G |
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 |
|
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 |
|
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'- CAGCCATCTTCATAATTTTACACACG -3'
(R):5'- TCTGTAATGACATCCAGCTGTC -3'
Sequencing Primer
(F):5'- ACACACGTCTTTTCAATTTCTGTC -3'
(R):5'- AGCTGTCAATCTCACTCATGATG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation