Incidental Mutation 'R7653:Dennd3'
| ID |
580510 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
045730-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R7653 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73434275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 982
(T982A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000160267]
[ENSMUST00000173292]
|
| AlphaFold |
A2RT67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043414
AA Change: T982A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: T982A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:uDENN
|
12 |
161 |
3e-78 |
BLAST |
|
DENN
|
187 |
373 |
1.54e-62 |
SMART |
|
dDENN
|
436 |
499 |
6.81e-14 |
SMART |
|
WD40
|
1015 |
1054 |
3.68e1 |
SMART |
|
WD40
|
1057 |
1098 |
3.32e-5 |
SMART |
|
WD40
|
1232 |
1272 |
1.1e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160267
AA Change: T60A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124538
Gene: ENSMUSG00000036661
AA Change: T60A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
51 |
90 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173292
AA Change: T982A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: T982A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:uDENN
|
12 |
161 |
2e-78 |
BLAST |
|
DENN
|
187 |
373 |
1.54e-62 |
SMART |
|
dDENN
|
436 |
499 |
6.81e-14 |
SMART |
|
WD40
|
1015 |
1054 |
3.68e1 |
SMART |
|
WD40
|
1057 |
1098 |
3.32e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
A |
T |
6: 92,805,050 (GRCm39) |
Q70L |
unknown |
Het |
| Adamts12 |
T |
A |
15: 11,257,115 (GRCm39) |
N489K |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,577 (GRCm39) |
D801G |
possibly damaging |
Het |
| Apex1 |
T |
G |
14: 51,163,995 (GRCm39) |
N173K |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,441 (GRCm39) |
N808I |
probably benign |
Het |
| Arhgef28 |
T |
C |
13: 98,105,821 (GRCm39) |
Y706C |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,602,731 (GRCm39) |
F1604Y |
possibly damaging |
Het |
| Atm |
A |
T |
9: 53,401,602 (GRCm39) |
Y1422* |
probably null |
Het |
| Bace2 |
T |
A |
16: 97,237,852 (GRCm39) |
V38E |
|
Het |
| Birc6 |
C |
A |
17: 74,954,729 (GRCm39) |
L3442I |
possibly damaging |
Het |
| C6 |
T |
A |
15: 4,844,244 (GRCm39) |
S889T |
|
Het |
| Calcrl |
A |
T |
2: 84,175,529 (GRCm39) |
L275* |
probably null |
Het |
| Casp6 |
T |
C |
3: 129,705,872 (GRCm39) |
Y180H |
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,703,910 (GRCm39) |
M51V |
probably benign |
Het |
| Cdhr1 |
G |
T |
14: 36,804,158 (GRCm39) |
P500Q |
probably benign |
Het |
| Celsr3 |
G |
A |
9: 108,712,269 (GRCm39) |
W1732* |
probably null |
Het |
| Ces2g |
T |
C |
8: 105,689,285 (GRCm39) |
V87A |
probably damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,641 (GRCm39) |
N153S |
possibly damaging |
Het |
| Chrna5 |
A |
T |
9: 54,909,718 (GRCm39) |
D113V |
probably benign |
Het |
| Cimip2b |
T |
G |
4: 43,427,273 (GRCm39) |
|
probably null |
Het |
| Cox20 |
A |
G |
1: 178,150,164 (GRCm39) |
T113A |
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,541,148 (GRCm39) |
I179V |
probably benign |
Het |
| Drosha |
G |
A |
15: 12,859,522 (GRCm39) |
V577I |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,117,570 (GRCm39) |
S2240P |
probably benign |
Het |
| Eif1ad14 |
T |
A |
12: 87,886,248 (GRCm39) |
D127V |
unknown |
Het |
| Fbxl5 |
C |
T |
5: 43,916,116 (GRCm39) |
S432N |
probably benign |
Het |
| Fez1 |
T |
A |
9: 36,772,146 (GRCm39) |
S150R |
probably benign |
Het |
| Gabrb2 |
T |
G |
11: 42,378,039 (GRCm39) |
M85R |
probably damaging |
Het |
| Lhx4 |
A |
G |
1: 155,580,617 (GRCm39) |
V203A |
probably damaging |
Het |
| Med23 |
G |
A |
10: 24,780,282 (GRCm39) |
D977N |
probably damaging |
Het |
| Mplkip |
T |
C |
13: 17,870,367 (GRCm39) |
F100L |
probably damaging |
Het |
| Ncoa7 |
C |
T |
10: 30,570,239 (GRCm39) |
G240E |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,650,910 (GRCm39) |
E827G |
probably damaging |
Het |
| Nfatc2 |
A |
G |
2: 168,413,065 (GRCm39) |
F207L |
probably benign |
Het |
| Nr2f1 |
A |
T |
13: 78,343,716 (GRCm39) |
S183T |
probably benign |
Het |
| Ocel1 |
A |
G |
8: 71,824,560 (GRCm39) |
E81G |
probably benign |
Het |
| Or10aa3 |
T |
C |
1: 173,878,488 (GRCm39) |
V183A |
probably benign |
Het |
| Or10g3b |
C |
A |
14: 52,586,889 (GRCm39) |
G205* |
probably null |
Het |
| Or4n4b |
C |
T |
14: 50,536,604 (GRCm39) |
G54E |
possibly damaging |
Het |
| Pcdh8 |
G |
A |
14: 80,005,086 (GRCm39) |
P980S |
probably benign |
Het |
| Pex26 |
A |
T |
6: 121,170,510 (GRCm39) |
Q285L |
possibly damaging |
Het |
| Pgap6 |
T |
A |
17: 26,339,423 (GRCm39) |
M579K |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,737,763 (GRCm39) |
N1603I |
probably benign |
Het |
| Poli |
A |
T |
18: 70,642,698 (GRCm39) |
C501S |
probably benign |
Het |
| Ppp4r4 |
C |
T |
12: 103,550,404 (GRCm39) |
T276I |
probably damaging |
Het |
| Rbpj |
T |
A |
5: 53,747,693 (GRCm39) |
M1K |
probably null |
Het |
| Recql4 |
T |
A |
15: 76,587,982 (GRCm39) |
M1204L |
probably benign |
Het |
| Ribc2 |
T |
C |
15: 85,025,876 (GRCm39) |
I284T |
probably benign |
Het |
| Rreb1 |
C |
A |
13: 38,114,362 (GRCm39) |
Q574K |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,357,424 (GRCm39) |
L959Q |
probably damaging |
Het |
| Shank1 |
C |
A |
7: 43,969,093 (GRCm39) |
H329Q |
unknown |
Het |
| Soat2 |
A |
T |
15: 102,071,013 (GRCm39) |
D469V |
probably damaging |
Het |
| Spag7 |
T |
A |
11: 70,555,691 (GRCm39) |
H82L |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,675,271 (GRCm39) |
I248V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,566,843 (GRCm39) |
I239V |
probably benign |
Het |
| Tbc1d1 |
T |
C |
5: 64,414,133 (GRCm39) |
F165L |
probably benign |
Het |
| Tchhl1 |
A |
G |
3: 93,378,451 (GRCm39) |
E385G |
probably benign |
Het |
| Tecta |
C |
T |
9: 42,248,532 (GRCm39) |
D1957N |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,938,174 (GRCm39) |
I1501V |
probably benign |
Het |
| Tet2 |
G |
T |
3: 133,192,146 (GRCm39) |
Q763K |
probably benign |
Het |
| Timd6 |
A |
C |
11: 46,475,200 (GRCm39) |
S132R |
probably benign |
Het |
| Tox3 |
G |
A |
8: 90,975,617 (GRCm39) |
T338I |
probably damaging |
Het |
| Usp30 |
G |
A |
5: 114,259,730 (GRCm39) |
D479N |
probably damaging |
Het |
| Vmn1r27 |
T |
C |
6: 58,192,785 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn1r27 |
A |
T |
6: 58,192,879 (GRCm39) |
S42T |
probably benign |
Het |
| Vmn2r120 |
A |
T |
17: 57,816,258 (GRCm39) |
V699D |
possibly damaging |
Het |
| Vwa2 |
A |
T |
19: 56,897,767 (GRCm39) |
T691S |
probably benign |
Het |
| Wdr31 |
T |
A |
4: 62,381,666 (GRCm39) |
Q55L |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,204,040 (GRCm39) |
F1107L |
probably benign |
Het |
| Zfp184 |
A |
G |
13: 22,143,887 (GRCm39) |
H531R |
probably damaging |
Het |
| Zfp366 |
T |
C |
13: 99,365,709 (GRCm39) |
L290P |
probably damaging |
Het |
|
| Other mutations in Dennd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Dennd3
|
APN |
15 |
73,438,982 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL00579:Dennd3
|
APN |
15 |
73,412,691 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02101:Dennd3
|
APN |
15 |
73,399,794 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02164:Dennd3
|
APN |
15 |
73,416,297 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02389:Dennd3
|
APN |
15 |
73,438,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02604:Dennd3
|
APN |
15 |
73,428,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02697:Dennd3
|
APN |
15 |
73,396,085 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02885:Dennd3
|
APN |
15 |
73,440,545 (GRCm39) |
missense |
probably benign |
|
|
IGL03356:Dennd3
|
APN |
15 |
73,440,482 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03388:Dennd3
|
APN |
15 |
73,416,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB006:Dennd3
|
UTSW |
15 |
73,436,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB016:Dennd3
|
UTSW |
15 |
73,436,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Dennd3
|
UTSW |
15 |
73,436,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Dennd3
|
UTSW |
15 |
73,405,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1076:Dennd3
|
UTSW |
15 |
73,412,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Dennd3
|
UTSW |
15 |
73,412,703 (GRCm39) |
splice site |
probably benign |
|
|
R1370:Dennd3
|
UTSW |
15 |
73,412,703 (GRCm39) |
splice site |
probably benign |
|
|
R1480:Dennd3
|
UTSW |
15 |
73,404,695 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1727:Dennd3
|
UTSW |
15 |
73,436,977 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1732:Dennd3
|
UTSW |
15 |
73,409,267 (GRCm39) |
splice site |
probably benign |
|
|
R1771:Dennd3
|
UTSW |
15 |
73,426,950 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1776:Dennd3
|
UTSW |
15 |
73,426,950 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1779:Dennd3
|
UTSW |
15 |
73,394,357 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1838:Dennd3
|
UTSW |
15 |
73,436,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2146:Dennd3
|
UTSW |
15 |
73,426,909 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2146:Dennd3
|
UTSW |
15 |
73,395,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2147:Dennd3
|
UTSW |
15 |
73,395,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2148:Dennd3
|
UTSW |
15 |
73,426,909 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2149:Dennd3
|
UTSW |
15 |
73,426,909 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2150:Dennd3
|
UTSW |
15 |
73,426,909 (GRCm39) |
missense |
probably benign |
0.35 |
|
R2174:Dennd3
|
UTSW |
15 |
73,427,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2295:Dennd3
|
UTSW |
15 |
73,395,404 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2905:Dennd3
|
UTSW |
15 |
73,429,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3106:Dennd3
|
UTSW |
15 |
73,436,973 (GRCm39) |
nonsense |
probably null |
|
|
R3757:Dennd3
|
UTSW |
15 |
73,394,083 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3785:Dennd3
|
UTSW |
15 |
73,419,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3786:Dennd3
|
UTSW |
15 |
73,419,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3787:Dennd3
|
UTSW |
15 |
73,419,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3847:Dennd3
|
UTSW |
15 |
73,414,581 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4369:Dennd3
|
UTSW |
15 |
73,412,658 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4601:Dennd3
|
UTSW |
15 |
73,439,009 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4666:Dennd3
|
UTSW |
15 |
73,442,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4680:Dennd3
|
UTSW |
15 |
73,405,225 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4708:Dennd3
|
UTSW |
15 |
73,395,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Dennd3
|
UTSW |
15 |
73,394,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4920:Dennd3
|
UTSW |
15 |
73,412,574 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5043:Dennd3
|
UTSW |
15 |
73,399,785 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5074:Dennd3
|
UTSW |
15 |
73,419,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5410:Dennd3
|
UTSW |
15 |
73,419,297 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5421:Dennd3
|
UTSW |
15 |
73,438,964 (GRCm39) |
missense |
probably benign |
|
|
R5560:Dennd3
|
UTSW |
15 |
73,404,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6008:Dennd3
|
UTSW |
15 |
73,438,929 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6357:Dennd3
|
UTSW |
15 |
73,428,321 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6563:Dennd3
|
UTSW |
15 |
73,416,229 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6687:Dennd3
|
UTSW |
15 |
73,428,215 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6837:Dennd3
|
UTSW |
15 |
73,429,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6910:Dennd3
|
UTSW |
15 |
73,426,965 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7125:Dennd3
|
UTSW |
15 |
73,405,140 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7297:Dennd3
|
UTSW |
15 |
73,429,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7524:Dennd3
|
UTSW |
15 |
73,396,095 (GRCm39) |
nonsense |
probably null |
|
|
R7580:Dennd3
|
UTSW |
15 |
73,428,296 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7731:Dennd3
|
UTSW |
15 |
73,434,216 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7767:Dennd3
|
UTSW |
15 |
73,394,079 (GRCm39) |
missense |
probably benign |
|
|
R7806:Dennd3
|
UTSW |
15 |
73,442,624 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7860:Dennd3
|
UTSW |
15 |
73,412,657 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7902:Dennd3
|
UTSW |
15 |
73,439,964 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7929:Dennd3
|
UTSW |
15 |
73,436,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8218:Dennd3
|
UTSW |
15 |
73,384,622 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8436:Dennd3
|
UTSW |
15 |
73,434,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8444:Dennd3
|
UTSW |
15 |
73,442,672 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8698:Dennd3
|
UTSW |
15 |
73,394,154 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8967:Dennd3
|
UTSW |
15 |
73,419,426 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9147:Dennd3
|
UTSW |
15 |
73,429,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Dennd3
|
UTSW |
15 |
73,429,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9194:Dennd3
|
UTSW |
15 |
73,419,153 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9449:Dennd3
|
UTSW |
15 |
73,429,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Dennd3
|
UTSW |
15 |
73,419,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9616:Dennd3
|
UTSW |
15 |
73,440,563 (GRCm39) |
missense |
probably benign |
|
|
R9730:Dennd3
|
UTSW |
15 |
73,426,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF006:Dennd3
|
UTSW |
15 |
73,419,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCCGTGTACGATTTTACAG -3'
(R):5'- TGACCAATTCAGAGTCTGCC -3'
Sequencing Primer
(F):5'- GGCCGTGTACGATTTTACAGTAAAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation