Incidental Mutation 'R5560:Dennd3'
| ID |
436560 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN/MADD domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
043117-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R5560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73512560-73572242 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 73532895 bp (GRCm38)
|
| 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: 30,506,354 (GRCm38) |
E98K |
possibly damaging |
Het |
| Adipor1 |
T |
C |
1: 134,426,040 (GRCm38) |
W188R |
possibly damaging |
Het |
| Agrn |
T |
C |
4: 156,178,497 (GRCm38) |
D441G |
probably damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,383,490 (GRCm38) |
S570P |
probably benign |
Het |
| Ano9 |
C |
G |
7: 141,110,482 (GRCm38) |
G80R |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,634,437 (GRCm38) |
V250E |
probably damaging |
Het |
| Atp2b2 |
T |
C |
6: 113,774,358 (GRCm38) |
D583G |
possibly damaging |
Het |
| Bcar3 |
T |
A |
3: 122,426,575 (GRCm38) |
D40E |
possibly damaging |
Het |
| Capn12 |
A |
G |
7: 28,882,860 (GRCm38) |
D133G |
probably benign |
Het |
| Ccna1 |
A |
T |
3: 55,048,569 (GRCm38) |
Y269N |
probably damaging |
Het |
| Cct6b |
A |
T |
11: 82,741,413 (GRCm38) |
Y250N |
probably damaging |
Het |
| Cep112 |
A |
C |
11: 108,437,235 (GRCm38) |
K98Q |
probably damaging |
Het |
| Chst13 |
T |
C |
6: 90,318,269 (GRCm38) |
D54G |
probably damaging |
Het |
| Clstn2 |
G |
T |
9: 97,469,819 (GRCm38) |
H518N |
possibly damaging |
Het |
| Cntnap1 |
T |
A |
11: 101,182,435 (GRCm38) |
L581M |
probably damaging |
Het |
| Cog3 |
T |
A |
14: 75,729,393 (GRCm38) |
M446L |
probably damaging |
Het |
| Dennd2c |
T |
A |
3: 103,161,555 (GRCm38) |
I756K |
probably damaging |
Het |
| Dhx34 |
C |
A |
7: 16,218,541 (GRCm38) |
R53L |
probably benign |
Het |
| Dnah9 |
G |
A |
11: 65,881,740 (GRCm38) |
T3722I |
probably benign |
Het |
| Dnajb12 |
GC |
G |
10: 59,892,752 (GRCm38) |
|
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,266,241 (GRCm38) |
Y217C |
probably damaging |
Het |
| Dyrk1b |
G |
A |
7: 28,184,253 (GRCm38) |
R178Q |
possibly damaging |
Het |
| Eif4g1 |
T |
A |
16: 20,686,895 (GRCm38) |
C1009S |
probably benign |
Het |
| Frmpd1 |
A |
T |
4: 45,243,697 (GRCm38) |
T57S |
probably damaging |
Het |
| Gask1a |
T |
C |
9: 121,978,223 (GRCm38) |
F478L |
possibly damaging |
Het |
| Gjc2 |
A |
G |
11: 59,177,359 (GRCm38) |
V99A |
possibly damaging |
Het |
| Gm9955 |
A |
T |
18: 24,709,092 (GRCm38) |
|
probably benign |
Het |
| Gpr158 |
A |
G |
2: 21,826,290 (GRCm38) |
I734V |
possibly damaging |
Het |
| H1f2 |
A |
G |
13: 23,739,407 (GRCm38) |
S187G |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,451,119 (GRCm38) |
H2494L |
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,266,524 (GRCm38) |
|
probably null |
Het |
| Hmgcs1 |
A |
G |
13: 119,699,815 (GRCm38) |
|
probably null |
Het |
| Invs |
A |
T |
4: 48,416,084 (GRCm38) |
T655S |
probably benign |
Het |
| Ipo9 |
G |
A |
1: 135,402,245 (GRCm38) |
L486F |
probably damaging |
Het |
| Katnip |
T |
C |
7: 125,854,561 (GRCm38) |
V1150A |
probably benign |
Het |
| Kcnj6 |
A |
T |
16: 94,832,965 (GRCm38) |
L96M |
probably benign |
Het |
| Lfng |
A |
G |
5: 140,614,267 (GRCm38) |
D354G |
possibly damaging |
Het |
| Lgsn |
T |
C |
1: 31,196,872 (GRCm38) |
L139P |
probably damaging |
Het |
| Madd |
C |
A |
2: 91,163,545 (GRCm38) |
V923L |
probably damaging |
Het |
| Mical1 |
A |
T |
10: 41,478,965 (GRCm38) |
I157F |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,152,816 (GRCm38) |
N154S |
possibly damaging |
Het |
| Mrps14 |
A |
G |
1: 160,195,535 (GRCm38) |
K6R |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,861,073 (GRCm38) |
C421S |
probably damaging |
Het |
| Myo18b |
A |
G |
5: 112,868,295 (GRCm38) |
I696T |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 66,883,545 (GRCm38) |
Y375H |
probably damaging |
Het |
| Nsf |
T |
A |
11: 103,863,255 (GRCm38) |
E485V |
possibly damaging |
Het |
| Nup188 |
A |
G |
2: 30,309,885 (GRCm38) |
D307G |
probably damaging |
Het |
| Ocel1 |
C |
A |
8: 71,372,478 (GRCm38) |
P108T |
probably damaging |
Het |
| Oip5 |
A |
G |
2: 119,613,059 (GRCm38) |
S177P |
probably damaging |
Het |
| Omg |
A |
G |
11: 79,501,758 (GRCm38) |
W425R |
possibly damaging |
Het |
| Or1ad8 |
A |
C |
11: 51,007,523 (GRCm38) |
I184L |
possibly damaging |
Het |
| Or1l4 |
A |
G |
2: 37,201,930 (GRCm38) |
I230V |
probably benign |
Het |
| Or5an10 |
G |
A |
19: 12,298,644 (GRCm38) |
Q163* |
probably null |
Het |
| Or8g26 |
A |
C |
9: 39,184,184 (GRCm38) |
E2A |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,253,407 (GRCm38) |
Y1339C |
probably damaging |
Het |
| Polr3e |
A |
G |
7: 120,922,949 (GRCm38) |
D6G |
possibly damaging |
Het |
| Pou4f3 |
C |
A |
18: 42,395,415 (GRCm38) |
P141Q |
probably benign |
Het |
| Rcsd1 |
T |
A |
1: 165,655,501 (GRCm38) |
N337I |
possibly damaging |
Het |
| Rhoj |
C |
T |
12: 75,391,712 (GRCm38) |
P91S |
probably damaging |
Het |
| Rnf10 |
A |
G |
5: 115,249,998 (GRCm38) |
F367S |
probably damaging |
Het |
| Rnft1 |
A |
T |
11: 86,493,196 (GRCm38) |
R307S |
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,754,877 (GRCm38) |
F2788Y |
probably damaging |
Het |
| Scgb1c1 |
A |
G |
7: 140,846,224 (GRCm38) |
K78E |
possibly damaging |
Het |
| Scn5a |
G |
T |
9: 119,560,286 (GRCm38) |
A123E |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,549,839 (GRCm38) |
Y623* |
probably null |
Het |
| Slc49a3 |
A |
T |
5: 108,448,863 (GRCm38) |
M1K |
probably null |
Het |
| Spmap2l |
A |
G |
5: 77,016,486 (GRCm38) |
D112G |
possibly damaging |
Het |
| Tbl2 |
C |
T |
5: 135,157,591 (GRCm38) |
Q216* |
probably null |
Het |
| Tnc |
A |
G |
4: 64,008,709 (GRCm38) |
I860T |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,373,303 (GRCm38) |
K484R |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,390,567 (GRCm38) |
V2124A |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 45,310,332 (GRCm38) |
W713R |
probably damaging |
Het |
| Uap1l1 |
T |
C |
2: 25,362,676 (GRCm38) |
T451A |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,131,260 (GRCm38) |
C668S |
probably damaging |
Het |
| Ubxn11 |
T |
C |
4: 134,126,624 (GRCm38) |
F441S |
probably damaging |
Het |
| Vmn1r22 |
C |
T |
6: 57,900,738 (GRCm38) |
V85M |
probably damaging |
Het |
| Vmn2r72 |
T |
A |
7: 85,751,942 (GRCm38) |
I90L |
probably damaging |
Het |
| Wdr60 |
T |
C |
12: 116,218,113 (GRCm38) |
S769G |
probably damaging |
Het |
| Zfp330 |
T |
C |
8: 82,764,956 (GRCm38) |
E196G |
probably benign |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp994 |
T |
C |
17: 22,201,713 (GRCm38) |
E85G |
possibly damaging |
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 |
|
R2146:Dennd3
|
UTSW |
15 |
73,523,496 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- GCGACAGTTTCTAATGCTGC -3'
(R):5'- ATTACGTGTCGGGTCTAAGCAC -3'
Sequencing Primer
(F):5'- CTTTTCTGTGCCCAAACAGTGAATG -3'
(R):5'- AATACACAGGTTCCCGGGTTC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation