Incidental Mutation 'R2146:Dennd3'
ID |
233862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd3
|
Ensembl Gene |
ENSMUSG00000036661 |
Gene Name |
DENN domain containing 3 |
Synonyms |
E030003N15Rik |
MMRRC Submission |
040149-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R2146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73395345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 146
(T146M)
|
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: T146M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046774 Gene: ENSMUSG00000036661 AA Change: T146M
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: T146M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134002 Gene: ENSMUSG00000036661 AA Change: T146M
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (84/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
T |
6: 124,324,803 (GRCm39) |
|
probably null |
Het |
9530002B09Rik |
T |
A |
4: 122,583,198 (GRCm39) |
C13* |
probably null |
Het |
Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
Adamts18 |
G |
C |
8: 114,571,635 (GRCm39) |
A116G |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
Arhgef5 |
T |
C |
6: 43,260,252 (GRCm39) |
S1413P |
probably damaging |
Het |
Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,575,085 (GRCm39) |
H535N |
possibly damaging |
Het |
Ccdc57 |
A |
G |
11: 120,776,051 (GRCm39) |
|
probably benign |
Het |
Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
Ceacam2 |
G |
T |
7: 25,227,368 (GRCm39) |
C166* |
probably null |
Het |
Ces5a |
T |
A |
8: 94,261,327 (GRCm39) |
E33D |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
Chsy3 |
G |
A |
18: 59,309,544 (GRCm39) |
V266I |
probably benign |
Het |
Cpa5 |
G |
T |
6: 30,626,821 (GRCm39) |
R251L |
probably damaging |
Het |
Cps1 |
A |
C |
1: 67,191,538 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cstf1 |
T |
C |
2: 172,217,683 (GRCm39) |
Y99H |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
Dnajc22 |
T |
C |
15: 99,002,264 (GRCm39) |
V303A |
probably benign |
Het |
Dtx2 |
T |
G |
5: 136,059,464 (GRCm39) |
L458R |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,901,808 (GRCm39) |
F3072L |
probably benign |
Het |
Fgf5 |
T |
C |
5: 98,423,409 (GRCm39) |
*265R |
probably null |
Het |
Fndc11 |
A |
G |
2: 180,863,918 (GRCm39) |
E241G |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
Gm4922 |
T |
G |
10: 18,659,264 (GRCm39) |
Q486P |
probably benign |
Het |
Gm5786 |
A |
T |
12: 59,128,084 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
T |
6: 3,463,378 (GRCm39) |
|
probably benign |
Het |
Ints9 |
G |
A |
14: 65,223,792 (GRCm39) |
G89R |
possibly damaging |
Het |
Iqcm |
T |
A |
8: 76,615,241 (GRCm39) |
W441R |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,558,808 (GRCm39) |
L382P |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,561,039 (GRCm39) |
G635W |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,075 (GRCm39) |
Y554H |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,268,766 (GRCm39) |
K1649R |
probably damaging |
Het |
L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 110,686,434 (GRCm39) |
V144E |
probably benign |
Het |
Mcam |
T |
C |
9: 44,047,932 (GRCm39) |
V59A |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,915,515 (GRCm39) |
E47K |
probably damaging |
Het |
Metrn |
T |
A |
17: 26,015,601 (GRCm39) |
E38V |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
Mideas |
G |
T |
12: 84,219,809 (GRCm39) |
P382T |
probably damaging |
Het |
Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
Myh6 |
C |
T |
14: 55,191,228 (GRCm39) |
R871H |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or13c7b |
A |
G |
4: 43,821,178 (GRCm39) |
F61S |
probably damaging |
Het |
Or5b111 |
T |
C |
19: 13,291,485 (GRCm39) |
T55A |
probably benign |
Het |
Or8i2 |
T |
A |
2: 86,852,009 (GRCm39) |
N293I |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
Pkd2 |
A |
C |
5: 104,603,456 (GRCm39) |
|
probably benign |
Het |
Reps1 |
T |
A |
10: 17,969,061 (GRCm39) |
D206E |
probably benign |
Het |
Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
Rnf13 |
T |
G |
3: 57,709,907 (GRCm39) |
I150S |
probably null |
Het |
Rxfp4 |
C |
T |
3: 88,560,200 (GRCm39) |
A84T |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
Sgo2b |
T |
G |
8: 64,381,057 (GRCm39) |
T592P |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,062,349 (GRCm39) |
I228N |
probably damaging |
Het |
Slc39a1 |
T |
G |
3: 90,156,757 (GRCm39) |
H104Q |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,712,161 (GRCm39) |
V230A |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,269,722 (GRCm39) |
E30G |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,413,827 (GRCm39) |
Y985C |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,121,758 (GRCm39) |
F298S |
probably damaging |
Het |
Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,666,857 (GRCm39) |
F460L |
probably benign |
Het |
Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,589,035 (GRCm39) |
V105A |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,654,135 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,727,532 (GRCm39) |
|
probably benign |
Het |
Usp16 |
T |
C |
16: 87,270,075 (GRCm39) |
|
probably null |
Het |
Usp36 |
A |
G |
11: 118,159,491 (GRCm39) |
L486S |
probably benign |
Het |
Uty |
T |
C |
Y: 1,239,816 (GRCm39) |
I72V |
probably benign |
Het |
Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,247,244 (GRCm39) |
K598R |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,781,158 (GRCm39) |
N535D |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,089,008 (GRCm39) |
T946A |
probably benign |
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 |
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 |
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'- CAAGAAAATGTTCTGGAGGCC -3'
Sequencing Primer
(F):5'- GTAGGGGAAGTGTGCTCTCCAC -3'
(R):5'- TGGAAACTCAACGTCTCAGAGTC -3'
|
Posted On |
2014-10-01 |