Incidental Mutation 'R7591:Dennd2c'
ID |
587393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd2c
|
Ensembl Gene |
ENSMUSG00000007379 |
Gene Name |
DENN domain containing 2C |
Synonyms |
A930010I20Rik |
MMRRC Submission |
045638-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7591 (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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ccne2 |
T |
C |
4: 11,201,393 (GRCm39) |
I307T |
probably benign |
Het |
Chrm3 |
A |
T |
13: 9,927,349 (GRCm39) |
C562* |
probably null |
Het |
Cldn11 |
A |
T |
3: 31,204,436 (GRCm39) |
E46D |
probably benign |
Het |
Cyp4a14 |
A |
G |
4: 115,347,157 (GRCm39) |
|
probably null |
Het |
Dbh |
A |
G |
2: 27,060,522 (GRCm39) |
T233A |
probably damaging |
Het |
Dnttip2 |
T |
A |
3: 122,070,117 (GRCm39) |
L444* |
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Epop |
A |
T |
11: 97,519,158 (GRCm39) |
V317E |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,991,797 (GRCm39) |
T1695A |
possibly damaging |
Het |
Fam149a |
T |
A |
8: 45,803,472 (GRCm39) |
I421F |
possibly damaging |
Het |
Impa2 |
T |
C |
18: 67,451,480 (GRCm39) |
L258P |
probably damaging |
Het |
Itga1 |
G |
A |
13: 115,119,315 (GRCm39) |
R855W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 75,054,541 (GRCm39) |
T468A |
probably benign |
Het |
Kif11 |
A |
G |
19: 37,372,711 (GRCm39) |
K33R |
probably damaging |
Het |
Lamb1 |
C |
A |
12: 31,376,647 (GRCm39) |
A1657E |
probably damaging |
Het |
Macc1 |
T |
C |
12: 119,410,393 (GRCm39) |
V387A |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,561,297 (GRCm39) |
T734A |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,895,477 (GRCm39) |
|
probably null |
Het |
Nutm2 |
A |
G |
13: 50,627,903 (GRCm39) |
I461M |
probably damaging |
Het |
Or14p1 |
T |
C |
13: 65,292,462 (GRCm39) |
F130L |
probably benign |
Het |
Or4p7 |
G |
A |
2: 88,222,220 (GRCm39) |
V210M |
probably benign |
Het |
Or4s2 |
A |
C |
2: 88,473,811 (GRCm39) |
K233N |
probably damaging |
Het |
Or5b112 |
A |
G |
19: 13,319,619 (GRCm39) |
S166G |
probably benign |
Het |
Pigo |
T |
C |
4: 43,025,093 (GRCm39) |
N2S |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,608 (GRCm39) |
I650L |
probably benign |
Het |
Ppcdc |
A |
T |
9: 57,342,262 (GRCm39) |
V20D |
probably damaging |
Het |
Pramel27 |
A |
T |
4: 143,577,481 (GRCm39) |
I88L |
probably benign |
Het |
Rhobtb2 |
A |
G |
14: 70,037,190 (GRCm39) |
V78A |
possibly damaging |
Het |
Rp1l1 |
T |
C |
14: 64,263,558 (GRCm39) |
V226A |
probably damaging |
Het |
Scrt1 |
C |
A |
15: 76,403,694 (GRCm39) |
G99C |
probably damaging |
Het |
Skint9 |
A |
T |
4: 112,248,147 (GRCm39) |
I199N |
probably damaging |
Het |
Slc5a4a |
T |
C |
10: 75,983,501 (GRCm39) |
|
probably benign |
Het |
Smad3 |
C |
T |
9: 63,561,999 (GRCm39) |
W326* |
probably null |
Het |
Spata18 |
A |
T |
5: 73,829,759 (GRCm39) |
I305F |
|
Het |
Spata31h1 |
C |
A |
10: 82,128,046 (GRCm39) |
V1655F |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Syne3 |
A |
G |
12: 104,906,863 (GRCm39) |
|
probably null |
Het |
Trim69 |
G |
A |
2: 121,998,454 (GRCm39) |
R142Q |
probably benign |
Het |
Vmn1r40 |
A |
T |
6: 89,691,755 (GRCm39) |
I191F |
probably benign |
Het |
Vmn2r16 |
T |
A |
5: 109,510,223 (GRCm39) |
D535E |
probably damaging |
Het |
Vwa5b2 |
A |
G |
16: 20,420,317 (GRCm39) |
E742G |
probably damaging |
Het |
Zfp442 |
A |
T |
2: 150,250,092 (GRCm39) |
Y603* |
probably null |
Het |
Zp1 |
T |
C |
19: 10,896,835 (GRCm39) |
N68S |
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 |
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'- AGCCATCTTCATAATTTTACACACG -3'
(R):5'- CATCTGTAATGACATCCAGCTGTC -3'
Sequencing Primer
(F):5'- ACACACGTCTTTTCAATTTCTGTC -3'
(R):5'- AGCTGTCAATCTCACTCATGATG -3'
|
Posted On |
2019-10-24 |