Incidental Mutation 'R1480:Dennd3'
| ID |
164336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
039533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R1480 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73404695 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 257
(V257I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000173292]
|
| AlphaFold |
A2RT67 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043414
AA Change: V257I
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: V257I
| 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 benign
Transcript: ENSMUST00000173292
AA Change: V257I
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: V257I
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
C |
T |
2: 25,323,409 (GRCm39) |
R126C |
possibly damaging |
Het |
| Abcb9 |
C |
A |
5: 124,216,889 (GRCm39) |
A443S |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,262,171 (GRCm39) |
M1074V |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,025,454 (GRCm39) |
Y614H |
probably damaging |
Het |
| Agbl4 |
G |
A |
4: 111,423,914 (GRCm39) |
M313I |
possibly damaging |
Het |
| AI987944 |
T |
C |
7: 41,024,343 (GRCm39) |
D212G |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,448 (GRCm39) |
S537P |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,826,472 (GRCm39) |
R1031* |
probably null |
Het |
| Arid1a |
A |
G |
4: 133,407,700 (GRCm39) |
M2269T |
unknown |
Het |
| Ash1l |
C |
A |
3: 88,892,359 (GRCm39) |
P1413T |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| B3gnt5 |
A |
T |
16: 19,588,617 (GRCm39) |
I279L |
probably damaging |
Het |
| Camkk2 |
T |
C |
5: 122,872,341 (GRCm39) |
|
probably null |
Het |
| Ccdc158 |
T |
C |
5: 92,796,903 (GRCm39) |
K478E |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 94,000,782 (GRCm39) |
I121V |
probably benign |
Het |
| Chad |
A |
T |
11: 94,455,963 (GRCm39) |
|
probably benign |
Het |
| Col6a1 |
T |
C |
10: 76,545,752 (GRCm39) |
I907V |
unknown |
Het |
| Cpe |
T |
A |
8: 65,047,969 (GRCm39) |
T432S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,595,325 (GRCm39) |
T1941A |
possibly damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,460,037 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
A |
G |
6: 83,036,433 (GRCm39) |
R146G |
possibly damaging |
Het |
| Etf1 |
T |
C |
18: 35,042,276 (GRCm39) |
E261G |
probably damaging |
Het |
| Fermt2 |
C |
T |
14: 45,699,244 (GRCm39) |
V617I |
possibly damaging |
Het |
| Gabarap |
T |
C |
11: 69,882,551 (GRCm39) |
Y5H |
probably damaging |
Het |
| Gdap1 |
A |
G |
1: 17,215,781 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gimap5 |
A |
G |
6: 48,729,964 (GRCm39) |
E178G |
probably damaging |
Het |
| Gpatch1 |
C |
T |
7: 35,002,763 (GRCm39) |
G249E |
probably damaging |
Het |
| Gse1 |
T |
G |
8: 121,299,133 (GRCm39) |
|
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,836,515 (GRCm39) |
D82G |
probably damaging |
Het |
| Kit |
G |
A |
5: 75,797,977 (GRCm39) |
D422N |
probably benign |
Het |
| Klhl28 |
A |
T |
12: 65,003,995 (GRCm39) |
F173I |
probably damaging |
Het |
| Klk1b22 |
A |
G |
7: 43,766,278 (GRCm39) |
D253G |
possibly damaging |
Het |
| Lias |
T |
A |
5: 65,549,634 (GRCm39) |
H39Q |
probably benign |
Het |
| Lrp1b |
T |
A |
2: 40,793,401 (GRCm39) |
D2504V |
probably damaging |
Het |
| Mgat5 |
A |
T |
1: 127,387,716 (GRCm39) |
R557S |
probably damaging |
Het |
| Mrpl54 |
T |
C |
10: 81,101,489 (GRCm39) |
T91A |
probably benign |
Het |
| Myh3 |
T |
A |
11: 66,984,371 (GRCm39) |
D1069E |
possibly damaging |
Het |
| Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
C |
4: 120,625,921 (GRCm39) |
|
probably null |
Het |
| Nol7 |
A |
T |
13: 43,552,104 (GRCm39) |
E75V |
probably damaging |
Het |
| Nomo1 |
T |
A |
7: 45,710,337 (GRCm39) |
V606E |
probably damaging |
Het |
| Npat |
TGGTAAAA |
T |
9: 53,474,366 (GRCm39) |
|
probably null |
Het |
| Nt5c1b |
A |
G |
12: 10,424,886 (GRCm39) |
E142G |
probably damaging |
Het |
| Ogdh |
A |
T |
11: 6,297,827 (GRCm39) |
|
probably null |
Het |
| Or1o4 |
A |
G |
17: 37,590,636 (GRCm39) |
V225A |
probably benign |
Het |
| Parg |
A |
T |
14: 31,931,585 (GRCm39) |
K402* |
probably null |
Het |
| Patj |
G |
A |
4: 98,357,819 (GRCm39) |
G695E |
probably damaging |
Het |
| Pde3a |
G |
A |
6: 141,433,300 (GRCm39) |
S777N |
probably benign |
Het |
| Phactr2 |
G |
A |
10: 13,129,536 (GRCm39) |
P174L |
possibly damaging |
Het |
| Phtf1 |
C |
T |
3: 103,894,750 (GRCm39) |
R113* |
probably null |
Het |
| Pik3r4 |
G |
T |
9: 105,564,443 (GRCm39) |
V1346L |
probably benign |
Het |
| Prkcb |
T |
C |
7: 122,193,865 (GRCm39) |
W525R |
probably damaging |
Het |
| Prl8a1 |
C |
T |
13: 27,758,055 (GRCm39) |
R218H |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,376,310 (GRCm39) |
E536G |
probably benign |
Het |
| Rb1 |
T |
C |
14: 73,500,042 (GRCm39) |
N535S |
probably benign |
Het |
| Rbm7 |
G |
T |
9: 48,401,016 (GRCm39) |
D237E |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,342,180 (GRCm39) |
V122A |
probably damaging |
Het |
| Sdhc |
C |
T |
1: 170,973,370 (GRCm39) |
R11H |
probably benign |
Het |
| Sema3c |
A |
G |
5: 17,887,029 (GRCm39) |
N360S |
possibly damaging |
Het |
| Serpinb5 |
T |
A |
1: 106,809,437 (GRCm39) |
M281K |
probably benign |
Het |
| Serpinc1 |
A |
G |
1: 160,822,889 (GRCm39) |
E210G |
probably benign |
Het |
| Shoc2 |
T |
C |
19: 53,976,202 (GRCm39) |
S31P |
probably benign |
Het |
| Sult2a3 |
T |
A |
7: 13,856,836 (GRCm39) |
N28I |
possibly damaging |
Het |
| Svil |
C |
T |
18: 5,057,345 (GRCm39) |
P598S |
probably damaging |
Het |
| Tacc3 |
G |
A |
5: 33,821,941 (GRCm39) |
V234I |
probably benign |
Het |
| Tacr1 |
A |
T |
6: 82,469,511 (GRCm39) |
M132L |
possibly damaging |
Het |
| Tas2r104 |
C |
A |
6: 131,662,257 (GRCm39) |
V151F |
probably benign |
Het |
| Tbc1d10b |
C |
T |
7: 126,802,950 (GRCm39) |
S326N |
probably benign |
Het |
| Trim12c |
C |
T |
7: 103,997,451 (GRCm39) |
C35Y |
probably damaging |
Het |
| Trrap |
T |
C |
5: 144,755,123 (GRCm39) |
I2067T |
probably benign |
Het |
| Upk1a |
T |
C |
7: 30,306,311 (GRCm39) |
I152V |
probably benign |
Het |
| Vmn2r39 |
T |
G |
7: 9,017,955 (GRCm39) |
T794P |
probably damaging |
Het |
| Wnk2 |
G |
A |
13: 49,210,708 (GRCm39) |
P1704S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,610,593 (GRCm39) |
E790G |
possibly damaging |
Het |
| Zmym1 |
G |
T |
4: 126,942,405 (GRCm39) |
T563K |
probably damaging |
Het |
| Zranb1 |
T |
A |
7: 132,551,745 (GRCm39) |
F132Y |
probably benign |
Het |
| Zranb3 |
C |
T |
1: 128,019,599 (GRCm39) |
A48T |
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 |
|
|
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 |
|
|
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'- ttccctaacccTGGCGACAGTTTC -3'
(R):5'- GGTCTAAGCACAGGGCACGAATAC -3'
Sequencing Primer
(F):5'- taacccTGGCGACAGTTTCTAATG -3'
(R):5'- TTCACACCCAGAGGCTGAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation