Incidental Mutation 'R2146:Dennd3'
ID |
233862 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd3
|
Ensembl Gene |
ENSMUSG00000036661 |
Gene Name |
DENN/MADD domain containing 3 |
Synonyms |
E030003N15Rik |
MMRRC Submission |
040149-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R2146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
73512560-73572242 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 73523496 bp (GRCm38)
|
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: 124,347,844 (GRCm38) |
|
probably null |
Het |
4933406M09Rik |
T |
A |
1: 134,390,513 (GRCm38) |
M341K |
probably damaging |
Het |
9530002B09Rik |
T |
A |
4: 122,689,405 (GRCm38) |
C13* |
probably null |
Het |
Abca12 |
C |
A |
1: 71,263,488 (GRCm38) |
V2191L |
probably benign |
Het |
Adamts18 |
G |
C |
8: 113,845,003 (GRCm38) |
A116G |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,489,754 (GRCm38) |
|
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,199,878 (GRCm38) |
A349T |
probably benign |
Het |
Arhgap6 |
A |
G |
X: 168,796,500 (GRCm38) |
T94A |
probably benign |
Het |
Arhgef5 |
T |
C |
6: 43,283,318 (GRCm38) |
S1413P |
probably damaging |
Het |
Atg4c |
C |
A |
4: 99,221,226 (GRCm38) |
N143K |
possibly damaging |
Het |
BC005561 |
T |
C |
5: 104,518,991 (GRCm38) |
F460L |
probably benign |
Het |
C1qtnf12 |
A |
G |
4: 155,966,465 (GRCm38) |
N297S |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,838,999 (GRCm38) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,747,520 (GRCm38) |
H535N |
possibly damaging |
Het |
Ccdc57 |
A |
G |
11: 120,885,225 (GRCm38) |
|
probably benign |
Het |
Cd163 |
A |
G |
6: 124,309,208 (GRCm38) |
H239R |
probably damaging |
Het |
Ceacam2 |
G |
T |
7: 25,527,943 (GRCm38) |
C166* |
probably null |
Het |
Ces5a |
T |
A |
8: 93,534,699 (GRCm38) |
E33D |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,715,401 (GRCm38) |
|
probably null |
Het |
Chsy3 |
G |
A |
18: 59,176,472 (GRCm38) |
V266I |
probably benign |
Het |
Cpa5 |
G |
T |
6: 30,626,822 (GRCm38) |
R251L |
probably damaging |
Het |
Cps1 |
A |
C |
1: 67,152,379 (GRCm38) |
|
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
Cstf1 |
T |
C |
2: 172,375,763 (GRCm38) |
Y99H |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,316,358 (GRCm38) |
T317I |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,515,761 (GRCm38) |
M552V |
probably benign |
Het |
Dnajc22 |
T |
C |
15: 99,104,383 (GRCm38) |
V303A |
probably benign |
Het |
Dtx2 |
T |
G |
5: 136,030,610 (GRCm38) |
L458R |
probably benign |
Het |
Elmsan1 |
G |
T |
12: 84,173,035 (GRCm38) |
P382T |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,990,512 (GRCm38) |
F3072L |
probably benign |
Het |
Fgf5 |
T |
C |
5: 98,275,550 (GRCm38) |
*265R |
probably null |
Het |
Fndc11 |
A |
G |
2: 181,222,125 (GRCm38) |
E241G |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,450,648 (GRCm38) |
Y375H |
probably damaging |
Het |
Gm4922 |
T |
G |
10: 18,783,516 (GRCm38) |
Q486P |
probably benign |
Het |
Gm5786 |
A |
T |
12: 59,081,298 (GRCm38) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
T |
6: 3,463,378 (GRCm38) |
|
probably benign |
Het |
Ints9 |
G |
A |
14: 64,986,343 (GRCm38) |
G89R |
possibly damaging |
Het |
Iqcm |
T |
A |
8: 75,888,613 (GRCm38) |
W441R |
probably damaging |
Het |
Itga10 |
G |
T |
3: 96,653,723 (GRCm38) |
G635W |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,651,492 (GRCm38) |
L382P |
possibly damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,779,090 (GRCm38) |
Y554H |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,184,309 (GRCm38) |
K1649R |
probably damaging |
Het |
L1cam |
A |
T |
X: 73,861,141 (GRCm38) |
F536Y |
probably damaging |
Het |
Magee1 |
A |
T |
X: 105,122,958 (GRCm38) |
D783V |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 109,959,802 (GRCm38) |
V144E |
probably benign |
Het |
Mcam |
T |
C |
9: 44,136,635 (GRCm38) |
V59A |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,868,741 (GRCm38) |
E47K |
probably damaging |
Het |
Metrn |
T |
A |
17: 25,796,627 (GRCm38) |
E38V |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,103,718 (GRCm38) |
L314P |
probably benign |
Het |
Mospd2 |
A |
G |
X: 164,956,477 (GRCm38) |
|
probably null |
Het |
Mycbp2 |
G |
A |
14: 103,155,922 (GRCm38) |
H3068Y |
probably damaging |
Het |
Myh6 |
C |
T |
14: 54,953,771 (GRCm38) |
R871H |
probably damaging |
Het |
Nup214 |
C |
T |
2: 32,034,466 (GRCm38) |
S1669F |
probably damaging |
Het |
Olfr1104 |
T |
A |
2: 87,021,665 (GRCm38) |
N293I |
probably damaging |
Het |
Olfr1465 |
T |
C |
19: 13,314,121 (GRCm38) |
T55A |
probably benign |
Het |
Olfr156 |
A |
G |
4: 43,821,178 (GRCm38) |
F61S |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,232,168 (GRCm38) |
K33E |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,104,752 (GRCm38) |
M490V |
probably benign |
Het |
Pet2 |
T |
C |
X: 89,406,277 (GRCm38) |
D82G |
possibly damaging |
Het |
Pkd2 |
A |
C |
5: 104,455,590 (GRCm38) |
|
probably benign |
Het |
Reps1 |
T |
A |
10: 18,093,313 (GRCm38) |
D206E |
probably benign |
Het |
Rimkla |
T |
A |
4: 119,474,582 (GRCm38) |
M140L |
possibly damaging |
Het |
Rnf13 |
T |
G |
3: 57,802,486 (GRCm38) |
I150S |
probably null |
Het |
Rxfp4 |
C |
T |
3: 88,652,893 (GRCm38) |
A84T |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,605,927 (GRCm38) |
D237E |
probably benign |
Het |
Sgo2b |
T |
G |
8: 63,928,023 (GRCm38) |
T592P |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,205,152 (GRCm38) |
I228N |
probably damaging |
Het |
Slc39a1 |
T |
G |
3: 90,249,450 (GRCm38) |
H104Q |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,735,180 (GRCm38) |
V230A |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,121,603 (GRCm38) |
E30G |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,593,464 (GRCm38) |
Y985C |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,230,932 (GRCm38) |
F298S |
probably damaging |
Het |
Tada2a |
T |
C |
11: 84,079,629 (GRCm38) |
D432G |
probably damaging |
Het |
Tmem131 |
C |
A |
1: 36,812,609 (GRCm38) |
V938L |
probably benign |
Het |
Tnpo3 |
A |
G |
6: 29,589,036 (GRCm38) |
V105A |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,346,707 (GRCm38) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,897,188 (GRCm38) |
|
probably benign |
Het |
Usp16 |
T |
C |
16: 87,473,187 (GRCm38) |
|
probably null |
Het |
Usp36 |
A |
G |
11: 118,268,665 (GRCm38) |
L486S |
probably benign |
Het |
Uty |
T |
C |
Y: 1,239,816 (GRCm38) |
I72V |
probably benign |
Het |
Vps51 |
A |
G |
19: 6,068,134 (GRCm38) |
V777A |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,026,982 (GRCm38) |
K598R |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,890,332 (GRCm38) |
N535D |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,258,664 (GRCm38) |
T946A |
probably benign |
Het |
|
Other mutations in Dennd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Dennd3
|
APN |
15 |
73,567,133 (GRCm38) |
missense |
probably benign |
0.26 |
IGL00579:Dennd3
|
APN |
15 |
73,540,842 (GRCm38) |
missense |
possibly damaging |
0.63 |
IGL02101:Dennd3
|
APN |
15 |
73,527,945 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL02164:Dennd3
|
APN |
15 |
73,544,448 (GRCm38) |
missense |
probably benign |
0.26 |
IGL02389:Dennd3
|
APN |
15 |
73,567,056 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02604:Dennd3
|
APN |
15 |
73,556,403 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02697:Dennd3
|
APN |
15 |
73,524,236 (GRCm38) |
missense |
possibly damaging |
0.82 |
IGL02885:Dennd3
|
APN |
15 |
73,568,696 (GRCm38) |
missense |
probably benign |
|
IGL03356:Dennd3
|
APN |
15 |
73,568,633 (GRCm38) |
missense |
probably benign |
0.19 |
IGL03388:Dennd3
|
APN |
15 |
73,544,359 (GRCm38) |
missense |
probably damaging |
0.98 |
BB006:Dennd3
|
UTSW |
15 |
73,564,574 (GRCm38) |
missense |
probably damaging |
1.00 |
BB016:Dennd3
|
UTSW |
15 |
73,564,574 (GRCm38) |
missense |
probably damaging |
1.00 |
R0118:Dennd3
|
UTSW |
15 |
73,565,076 (GRCm38) |
missense |
probably damaging |
1.00 |
R0925:Dennd3
|
UTSW |
15 |
73,533,435 (GRCm38) |
missense |
probably damaging |
1.00 |
R1076:Dennd3
|
UTSW |
15 |
73,540,733 (GRCm38) |
missense |
probably damaging |
1.00 |
R1355:Dennd3
|
UTSW |
15 |
73,540,854 (GRCm38) |
splice site |
probably benign |
|
R1370:Dennd3
|
UTSW |
15 |
73,540,854 (GRCm38) |
splice site |
probably benign |
|
R1480:Dennd3
|
UTSW |
15 |
73,532,846 (GRCm38) |
missense |
probably benign |
0.20 |
R1727:Dennd3
|
UTSW |
15 |
73,565,128 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1732:Dennd3
|
UTSW |
15 |
73,537,418 (GRCm38) |
splice site |
probably benign |
|
R1771:Dennd3
|
UTSW |
15 |
73,555,101 (GRCm38) |
missense |
possibly damaging |
0.71 |
R1776:Dennd3
|
UTSW |
15 |
73,555,101 (GRCm38) |
missense |
possibly damaging |
0.71 |
R1779:Dennd3
|
UTSW |
15 |
73,522,508 (GRCm38) |
critical splice donor site |
probably null |
|
R1838:Dennd3
|
UTSW |
15 |
73,565,100 (GRCm38) |
missense |
probably damaging |
1.00 |
R2146:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2147:Dennd3
|
UTSW |
15 |
73,523,487 (GRCm38) |
missense |
probably damaging |
1.00 |
R2148:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2149:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2150:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2174:Dennd3
|
UTSW |
15 |
73,555,305 (GRCm38) |
missense |
probably damaging |
1.00 |
R2295:Dennd3
|
UTSW |
15 |
73,523,555 (GRCm38) |
critical splice donor site |
probably null |
|
R2905:Dennd3
|
UTSW |
15 |
73,557,646 (GRCm38) |
missense |
probably damaging |
1.00 |
R3106:Dennd3
|
UTSW |
15 |
73,565,124 (GRCm38) |
nonsense |
probably null |
|
R3757:Dennd3
|
UTSW |
15 |
73,522,234 (GRCm38) |
missense |
probably benign |
0.00 |
R3785:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R3786:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R3787:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R3847:Dennd3
|
UTSW |
15 |
73,542,732 (GRCm38) |
missense |
possibly damaging |
0.64 |
R4369:Dennd3
|
UTSW |
15 |
73,540,809 (GRCm38) |
missense |
probably damaging |
0.98 |
R4601:Dennd3
|
UTSW |
15 |
73,567,160 (GRCm38) |
missense |
probably damaging |
0.99 |
R4666:Dennd3
|
UTSW |
15 |
73,570,860 (GRCm38) |
missense |
probably damaging |
1.00 |
R4680:Dennd3
|
UTSW |
15 |
73,533,376 (GRCm38) |
missense |
possibly damaging |
0.82 |
R4708:Dennd3
|
UTSW |
15 |
73,523,495 (GRCm38) |
missense |
probably damaging |
1.00 |
R4789:Dennd3
|
UTSW |
15 |
73,522,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R4920:Dennd3
|
UTSW |
15 |
73,540,725 (GRCm38) |
missense |
probably benign |
0.13 |
R5043:Dennd3
|
UTSW |
15 |
73,527,936 (GRCm38) |
missense |
probably benign |
0.00 |
R5074:Dennd3
|
UTSW |
15 |
73,547,295 (GRCm38) |
missense |
probably damaging |
1.00 |
R5410:Dennd3
|
UTSW |
15 |
73,547,448 (GRCm38) |
missense |
probably benign |
0.02 |
R5421:Dennd3
|
UTSW |
15 |
73,567,115 (GRCm38) |
missense |
probably benign |
|
R5560:Dennd3
|
UTSW |
15 |
73,532,895 (GRCm38) |
missense |
probably damaging |
1.00 |
R6008:Dennd3
|
UTSW |
15 |
73,567,080 (GRCm38) |
missense |
possibly damaging |
0.88 |
R6357:Dennd3
|
UTSW |
15 |
73,556,472 (GRCm38) |
missense |
possibly damaging |
0.49 |
R6563:Dennd3
|
UTSW |
15 |
73,544,380 (GRCm38) |
missense |
probably damaging |
0.98 |
R6687:Dennd3
|
UTSW |
15 |
73,556,366 (GRCm38) |
missense |
possibly damaging |
0.64 |
R6837:Dennd3
|
UTSW |
15 |
73,557,693 (GRCm38) |
missense |
probably damaging |
1.00 |
R6910:Dennd3
|
UTSW |
15 |
73,555,116 (GRCm38) |
missense |
probably benign |
0.01 |
R7125:Dennd3
|
UTSW |
15 |
73,533,291 (GRCm38) |
missense |
possibly damaging |
0.50 |
R7297:Dennd3
|
UTSW |
15 |
73,557,610 (GRCm38) |
missense |
probably damaging |
1.00 |
R7524:Dennd3
|
UTSW |
15 |
73,524,246 (GRCm38) |
nonsense |
probably null |
|
R7580:Dennd3
|
UTSW |
15 |
73,556,447 (GRCm38) |
missense |
possibly damaging |
0.89 |
R7653:Dennd3
|
UTSW |
15 |
73,562,426 (GRCm38) |
missense |
probably damaging |
0.99 |
R7731:Dennd3
|
UTSW |
15 |
73,562,367 (GRCm38) |
missense |
probably damaging |
0.99 |
R7767:Dennd3
|
UTSW |
15 |
73,522,230 (GRCm38) |
missense |
probably benign |
|
R7806:Dennd3
|
UTSW |
15 |
73,570,775 (GRCm38) |
missense |
possibly damaging |
0.87 |
R7860:Dennd3
|
UTSW |
15 |
73,540,808 (GRCm38) |
missense |
probably damaging |
0.97 |
R7902:Dennd3
|
UTSW |
15 |
73,568,115 (GRCm38) |
critical splice donor site |
probably benign |
|
R7929:Dennd3
|
UTSW |
15 |
73,564,574 (GRCm38) |
missense |
probably damaging |
1.00 |
R8218:Dennd3
|
UTSW |
15 |
73,512,773 (GRCm38) |
missense |
probably benign |
0.31 |
R8436:Dennd3
|
UTSW |
15 |
73,562,349 (GRCm38) |
missense |
probably damaging |
1.00 |
R8444:Dennd3
|
UTSW |
15 |
73,570,823 (GRCm38) |
missense |
probably benign |
0.09 |
R8698:Dennd3
|
UTSW |
15 |
73,522,305 (GRCm38) |
missense |
possibly damaging |
0.52 |
R8967:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R9147:Dennd3
|
UTSW |
15 |
73,557,614 (GRCm38) |
missense |
probably damaging |
1.00 |
R9148:Dennd3
|
UTSW |
15 |
73,557,614 (GRCm38) |
missense |
probably damaging |
1.00 |
R9194:Dennd3
|
UTSW |
15 |
73,547,304 (GRCm38) |
missense |
probably benign |
0.04 |
R9449:Dennd3
|
UTSW |
15 |
73,557,628 (GRCm38) |
missense |
probably damaging |
1.00 |
R9501:Dennd3
|
UTSW |
15 |
73,547,192 (GRCm38) |
missense |
probably benign |
0.01 |
R9616:Dennd3
|
UTSW |
15 |
73,568,714 (GRCm38) |
missense |
probably benign |
|
R9730:Dennd3
|
UTSW |
15 |
73,555,110 (GRCm38) |
missense |
probably damaging |
1.00 |
RF006:Dennd3
|
UTSW |
15 |
73,547,592 (GRCm38) |
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 |