Incidental Mutation 'R5560:Dennd3'
| ID |
436560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
043117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R5560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 73404744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 273
(L273R)
|
| 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: L273R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: L273R
| 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 |
probably damaging
Transcript: ENSMUST00000173292
AA Change: L273R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: L273R
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,353,778 (GRCm39) |
W188R |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,262,954 (GRCm39) |
D441G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,520,024 (GRCm39) |
S570P |
probably benign |
Het |
| Ano9 |
C |
G |
7: 140,690,395 (GRCm39) |
G80R |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,541,744 (GRCm39) |
V250E |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,751,319 (GRCm39) |
D583G |
possibly damaging |
Het |
| Bcar3 |
T |
A |
3: 122,220,224 (GRCm39) |
D40E |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,582,285 (GRCm39) |
D133G |
probably benign |
Het |
| Ccna1 |
A |
T |
3: 54,955,990 (GRCm39) |
Y269N |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,632,239 (GRCm39) |
Y250N |
probably damaging |
Het |
| Cep112 |
A |
C |
11: 108,328,061 (GRCm39) |
K98Q |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,295,251 (GRCm39) |
D54G |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,351,872 (GRCm39) |
H518N |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,073,261 (GRCm39) |
L581M |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,966,833 (GRCm39) |
M446L |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,068,871 (GRCm39) |
I756K |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 15,952,466 (GRCm39) |
R53L |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,772,566 (GRCm39) |
T3722I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,102,103 (GRCm39) |
Y217C |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,181,733 (GRCm39) |
S769G |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 27,883,678 (GRCm39) |
R178Q |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,505,645 (GRCm39) |
C1009S |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,243,697 (GRCm39) |
T57S |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,807,289 (GRCm39) |
F478L |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,068,185 (GRCm39) |
V99A |
possibly damaging |
Het |
| Gm9955 |
A |
T |
18: 24,842,149 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,831,101 (GRCm39) |
I734V |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,923,390 (GRCm39) |
S187G |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,358,401 (GRCm39) |
H2494L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hmgcs1 |
A |
G |
13: 120,161,351 (GRCm39) |
|
probably null |
Het |
| Invs |
A |
T |
4: 48,416,084 (GRCm39) |
T655S |
probably benign |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,453,733 (GRCm39) |
V1150A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,633,824 (GRCm39) |
L96M |
probably benign |
Het |
| Lfng |
A |
G |
5: 140,600,022 (GRCm39) |
D354G |
possibly damaging |
Het |
| Lgsn |
T |
C |
1: 31,235,953 (GRCm39) |
L139P |
probably damaging |
Het |
| Madd |
C |
A |
2: 90,993,890 (GRCm39) |
V923L |
probably damaging |
Het |
| Mical1 |
A |
T |
10: 41,354,961 (GRCm39) |
I157F |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,199,590 (GRCm39) |
N154S |
possibly damaging |
Het |
| Mrps14 |
A |
G |
1: 160,023,105 (GRCm39) |
K6R |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,838,032 (GRCm39) |
C421S |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 113,016,161 (GRCm39) |
I696T |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,336,197 (GRCm39) |
Y375H |
probably damaging |
Het |
| Nsf |
T |
A |
11: 103,754,081 (GRCm39) |
E485V |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,199,897 (GRCm39) |
D307G |
probably damaging |
Het |
| Ocel1 |
C |
A |
8: 71,825,122 (GRCm39) |
P108T |
probably damaging |
Het |
| Oip5 |
A |
G |
2: 119,443,540 (GRCm39) |
S177P |
probably damaging |
Het |
| Omg |
A |
G |
11: 79,392,584 (GRCm39) |
W425R |
possibly damaging |
Het |
| Or1ad8 |
A |
C |
11: 50,898,350 (GRCm39) |
I184L |
possibly damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,942 (GRCm39) |
I230V |
probably benign |
Het |
| Or5an10 |
G |
A |
19: 12,276,008 (GRCm39) |
Q163* |
probably null |
Het |
| Or8g26 |
A |
C |
9: 39,095,480 (GRCm39) |
E2A |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,292,566 (GRCm39) |
Y1339C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,522,172 (GRCm39) |
D6G |
possibly damaging |
Het |
| Pou4f3 |
C |
A |
18: 42,528,480 (GRCm39) |
P141Q |
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,483,070 (GRCm39) |
N337I |
possibly damaging |
Het |
| Rhoj |
C |
T |
12: 75,438,486 (GRCm39) |
P91S |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,388,057 (GRCm39) |
F367S |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,384,022 (GRCm39) |
R307S |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,585,222 (GRCm39) |
F2788Y |
probably damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,426,137 (GRCm39) |
K78E |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,389,352 (GRCm39) |
A123E |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,378,907 (GRCm39) |
Y623* |
probably null |
Het |
| Slc49a3 |
A |
T |
5: 108,596,729 (GRCm39) |
M1K |
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,164,333 (GRCm39) |
D112G |
possibly damaging |
Het |
| Tbl2 |
C |
T |
5: 135,186,445 (GRCm39) |
Q216* |
probably null |
Het |
| Tnc |
A |
G |
4: 63,926,946 (GRCm39) |
I860T |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,511,366 (GRCm39) |
K484R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,219,635 (GRCm39) |
V2124A |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,959,756 (GRCm39) |
W713R |
probably damaging |
Het |
| Uap1l1 |
T |
C |
2: 25,252,688 (GRCm39) |
T451A |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,279,119 (GRCm39) |
C668S |
probably damaging |
Het |
| Ubxn11 |
T |
C |
4: 133,853,935 (GRCm39) |
F441S |
probably damaging |
Het |
| Vmn1r22 |
C |
T |
6: 57,877,723 (GRCm39) |
V85M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,150 (GRCm39) |
I90L |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 83,491,585 (GRCm39) |
E196G |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,059,108 (GRCm39) |
V167A |
possibly damaging |
Het |
| Zfp994 |
T |
C |
17: 22,420,694 (GRCm39) |
E85G |
possibly 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 |
|
|
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'- GCGACAGTTTCTAATGCTGC -3'
(R):5'- ATTACGTGTCGGGTCTAAGCAC -3'
Sequencing Primer
(F):5'- CTTTTCTGTGCCCAAACAGTGAATG -3'
(R):5'- AATACACAGGTTCCCGGGTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation