Incidental Mutation 'R4708:Dennd3'
ID |
355443 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd3
|
Ensembl Gene |
ENSMUSG00000036661 |
Gene Name |
DENN domain containing 3 |
Synonyms |
E030003N15Rik |
MMRRC Submission |
042017-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R4708 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73395344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 146
(T146A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134002
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000173292]
|
AlphaFold |
A2RT67 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000043414
AA Change: T146A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046774 Gene: ENSMUSG00000036661 AA Change: T146A
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 |
noncoding transcript
Transcript: ENSMUST00000162488
|
SMART Domains |
Protein: ENSMUSP00000125657 Gene: ENSMUSG00000036661
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
Blast:DENN
|
33 |
104 |
5e-28 |
BLAST |
DENN
|
116 |
302 |
1.54e-62 |
SMART |
dDENN
|
312 |
376 |
5.63e-6 |
SMART |
WD40
|
892 |
931 |
3.68e1 |
SMART |
WD40
|
934 |
975 |
3.32e-5 |
SMART |
WD40
|
1109 |
1149 |
1.1e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162824
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173292
AA Change: T146A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134002 Gene: ENSMUSG00000036661 AA Change: T146A
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 |
|
Meta Mutation Damage Score |
0.8862 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
G |
A |
7: 41,261,309 (GRCm39) |
G2D |
probably damaging |
Het |
4930505A04Rik |
T |
C |
11: 30,404,717 (GRCm39) |
Y62C |
probably damaging |
Het |
Aadacl4 |
A |
C |
4: 144,349,899 (GRCm39) |
K385N |
probably benign |
Het |
Abcb4 |
A |
T |
5: 8,965,125 (GRCm39) |
T332S |
possibly damaging |
Het |
Aco2 |
G |
A |
15: 81,794,117 (GRCm39) |
|
probably null |
Het |
Aplf |
G |
T |
6: 87,640,739 (GRCm39) |
S69Y |
probably damaging |
Het |
Arhgap27 |
A |
G |
11: 103,224,388 (GRCm39) |
|
probably benign |
Het |
B4galnt1 |
T |
A |
10: 127,005,684 (GRCm39) |
Y262N |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Ccdc62 |
T |
G |
5: 124,068,925 (GRCm39) |
|
probably null |
Het |
Cd109 |
T |
A |
9: 78,579,871 (GRCm39) |
I649K |
probably benign |
Het |
Cd209b |
T |
C |
8: 3,974,215 (GRCm39) |
E99G |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,359,126 (GRCm39) |
K952R |
probably benign |
Het |
Ces2a |
A |
G |
8: 105,463,938 (GRCm39) |
H190R |
probably benign |
Het |
Clec14a |
A |
G |
12: 58,314,489 (GRCm39) |
S378P |
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,202,150 (GRCm39) |
Q947R |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,277,970 (GRCm39) |
M486L |
probably benign |
Het |
Dysf |
C |
A |
6: 84,074,697 (GRCm39) |
D499E |
probably damaging |
Het |
Eif4enif1 |
T |
G |
11: 3,170,323 (GRCm39) |
H125Q |
probably damaging |
Het |
Fcgbp |
A |
T |
7: 27,794,386 (GRCm39) |
M1197L |
probably benign |
Het |
Fubp3 |
C |
T |
2: 31,498,122 (GRCm39) |
T92I |
probably benign |
Het |
Gm19426 |
T |
C |
2: 84,573,803 (GRCm39) |
|
probably null |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,140 (GRCm39) |
H466R |
probably damaging |
Het |
Hdac5 |
T |
C |
11: 102,093,019 (GRCm39) |
S573G |
probably damaging |
Het |
Iars2 |
A |
T |
1: 185,021,554 (GRCm39) |
M916K |
probably benign |
Het |
Insr |
A |
T |
8: 3,261,346 (GRCm39) |
|
probably benign |
Het |
Itgam |
T |
C |
7: 127,700,709 (GRCm39) |
V493A |
probably damaging |
Het |
Ivl |
T |
A |
3: 92,479,057 (GRCm39) |
K336I |
probably damaging |
Het |
Kcng2 |
A |
G |
18: 80,366,067 (GRCm39) |
I95T |
probably damaging |
Het |
Lap3 |
A |
G |
5: 45,668,480 (GRCm39) |
R431G |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,787,005 (GRCm39) |
H115R |
probably benign |
Het |
Morc3 |
T |
C |
16: 93,670,126 (GRCm39) |
V767A |
probably benign |
Het |
Mttp |
A |
G |
3: 137,839,859 (GRCm39) |
|
probably benign |
Het |
Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
Nat9 |
G |
A |
11: 115,074,269 (GRCm39) |
T133M |
probably damaging |
Het |
Nectin4 |
T |
C |
1: 171,212,714 (GRCm39) |
I349T |
probably benign |
Het |
Nlrp4a |
A |
G |
7: 26,163,533 (GRCm39) |
E900G |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,084,265 (GRCm39) |
M438K |
probably benign |
Het |
Or2y14 |
T |
A |
11: 49,405,216 (GRCm39) |
Y250* |
probably null |
Het |
Or52p2 |
A |
T |
7: 102,237,043 (GRCm39) |
D302E |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,261 (GRCm39) |
I41F |
probably benign |
Het |
Parp6 |
T |
C |
9: 59,549,052 (GRCm39) |
I507T |
probably damaging |
Het |
Pde6c |
G |
A |
19: 38,169,341 (GRCm39) |
E804K |
possibly damaging |
Het |
Plscr2 |
A |
G |
9: 92,173,067 (GRCm39) |
Y203C |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,735,067 (GRCm39) |
W216R |
probably damaging |
Het |
Rhof |
T |
A |
5: 123,258,454 (GRCm39) |
T126S |
probably benign |
Het |
Riox2 |
A |
G |
16: 59,296,045 (GRCm39) |
I49V |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Rusf1 |
A |
G |
7: 127,873,852 (GRCm39) |
V345A |
probably benign |
Het |
Shld2 |
A |
G |
14: 33,989,790 (GRCm39) |
V372A |
probably benign |
Het |
Spata31e2 |
A |
T |
1: 26,723,521 (GRCm39) |
V553D |
possibly damaging |
Het |
Tmc6 |
A |
T |
11: 117,659,774 (GRCm39) |
C750S |
probably benign |
Het |
Tmem231 |
C |
A |
8: 112,660,418 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
T |
A |
11: 115,677,121 (GRCm39) |
I131N |
possibly damaging |
Het |
Tmx3 |
T |
C |
18: 90,539,163 (GRCm39) |
|
probably null |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,123 (GRCm39) |
T245I |
possibly damaging |
Het |
Ttbk2 |
C |
A |
2: 120,570,342 (GRCm39) |
R1201S |
probably damaging |
Het |
Vmn2r102 |
A |
T |
17: 19,914,576 (GRCm39) |
M714L |
probably benign |
Het |
Vmn2r109 |
A |
G |
17: 20,761,605 (GRCm39) |
L584S |
probably damaging |
Het |
Vmn2r53 |
T |
A |
7: 12,335,129 (GRCm39) |
H177L |
probably benign |
Het |
Vnn1 |
T |
A |
10: 23,773,250 (GRCm39) |
D92E |
probably benign |
Het |
Zan |
T |
C |
5: 137,444,974 (GRCm39) |
I1762V |
unknown |
Het |
Zbtb20 |
G |
T |
16: 43,431,039 (GRCm39) |
A517S |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,310,563 (GRCm39) |
|
probably null |
Het |
Zfp560 |
T |
C |
9: 20,263,214 (GRCm39) |
E54G |
possibly damaging |
Het |
Zfp719 |
C |
T |
7: 43,239,656 (GRCm39) |
H415Y |
probably damaging |
Het |
Zmynd11 |
A |
C |
13: 9,745,789 (GRCm39) |
V188G |
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 |
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 |
R7653:Dennd3
|
UTSW |
15 |
73,434,275 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- TCAAAGCTCCGGGTGGTTAG -3'
(R):5'- ACAAGAAAATGTTCTGGAGGCC -3'
Sequencing Primer
(F):5'- GTAGGGGAAGTGTGCTCTCCAC -3'
(R):5'- TGGAAACTCAACGTCTCAGAGTC -3'
|
Posted On |
2015-10-21 |