Incidental Mutation 'R7860:Dennd3'
| ID |
607460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
045913-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R7860 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73412657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 440
(I440F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000173292]
|
| AlphaFold |
A2RT67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043414
AA Change: I440F
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: I440F
| 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 |
probably damaging
Transcript: ENSMUST00000173292
AA Change: I440F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: I440F
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,905,707 (GRCm39) |
T493A |
probably damaging |
Het |
| Aars1 |
A |
G |
8: 111,776,493 (GRCm39) |
K650E |
probably benign |
Het |
| Abcb1b |
C |
T |
5: 8,882,258 (GRCm39) |
S793F |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,501,908 (GRCm39) |
I318F |
probably damaging |
Het |
| Adcy8 |
A |
G |
15: 64,571,322 (GRCm39) |
I1137T |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,603,838 (GRCm39) |
F607L |
probably benign |
Het |
| Ankrd46 |
A |
T |
15: 36,479,566 (GRCm39) |
V175D |
possibly damaging |
Het |
| Arhgap28 |
C |
A |
17: 68,208,277 (GRCm39) |
E114* |
probably null |
Het |
| Arrdc1 |
C |
T |
2: 24,816,158 (GRCm39) |
G282S |
probably damaging |
Het |
| Atp1a3 |
A |
T |
7: 24,681,216 (GRCm39) |
L790Q |
probably damaging |
Het |
| Bend5 |
T |
A |
4: 111,272,406 (GRCm39) |
V12D |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,976,608 (GRCm39) |
E1569K |
probably damaging |
Het |
| Cdc123 |
T |
A |
2: 5,808,775 (GRCm39) |
I234L |
probably benign |
Het |
| Cep126 |
T |
G |
9: 8,120,749 (GRCm39) |
E91D |
probably damaging |
Het |
| Cep89 |
T |
A |
7: 35,113,570 (GRCm39) |
D199E |
possibly damaging |
Het |
| Ces1d |
T |
C |
8: 93,897,765 (GRCm39) |
T442A |
probably benign |
Het |
| Chsy3 |
C |
T |
18: 59,542,299 (GRCm39) |
A479V |
probably benign |
Het |
| Clcn4 |
C |
A |
7: 7,296,060 (GRCm39) |
G261C |
probably damaging |
Het |
| Clhc1 |
A |
T |
11: 29,507,651 (GRCm39) |
|
probably null |
Het |
| Cnot3 |
T |
A |
7: 3,658,565 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
C |
A |
1: 24,276,261 (GRCm39) |
P723H |
probably damaging |
Het |
| Crybg3 |
A |
T |
16: 59,375,605 (GRCm39) |
M169K |
probably benign |
Het |
| Cxxc4 |
A |
G |
3: 133,963,814 (GRCm39) |
R353G |
probably benign |
Het |
| Dnai3 |
A |
G |
3: 145,772,675 (GRCm39) |
L457P |
probably damaging |
Het |
| Elmo3 |
G |
T |
8: 106,035,649 (GRCm39) |
S553I |
probably damaging |
Het |
| Elovl2 |
A |
G |
13: 41,340,943 (GRCm39) |
Y198H |
probably benign |
Het |
| Epm2aip1 |
A |
G |
9: 111,101,105 (GRCm39) |
Y26C |
probably damaging |
Het |
| Ext1 |
A |
C |
15: 52,953,335 (GRCm39) |
C510G |
possibly damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,938 (GRCm39) |
D81E |
probably benign |
Het |
| Fbxl5 |
T |
A |
5: 43,916,018 (GRCm39) |
T465S |
probably benign |
Het |
| Fbxo31 |
G |
A |
8: 122,291,384 (GRCm39) |
|
probably null |
Het |
| Gabrr2 |
A |
T |
4: 33,081,470 (GRCm39) |
K169* |
probably null |
Het |
| Haus4 |
A |
G |
14: 54,779,602 (GRCm39) |
Y341H |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,011,099 (GRCm39) |
|
probably null |
Het |
| Jmjd7 |
C |
T |
2: 119,860,996 (GRCm39) |
H149Y |
possibly damaging |
Het |
| Kcnh2 |
C |
T |
5: 24,529,561 (GRCm39) |
C725Y |
probably damaging |
Het |
| Mroh1 |
C |
T |
15: 76,331,532 (GRCm39) |
P1252L |
probably benign |
Het |
| Ms4a14 |
A |
G |
19: 11,280,308 (GRCm39) |
F750S |
probably benign |
Het |
| Naf1 |
T |
A |
8: 67,313,165 (GRCm39) |
D49E |
unknown |
Het |
| Notch3 |
T |
C |
17: 32,341,747 (GRCm39) |
T2002A |
possibly damaging |
Het |
| Or10q12 |
T |
A |
19: 13,745,716 (GRCm39) |
D3E |
probably benign |
Het |
| Or14c44 |
A |
G |
7: 86,057,119 (GRCm39) |
|
probably benign |
Het |
| Or1e33 |
A |
T |
11: 73,738,333 (GRCm39) |
I206N |
probably benign |
Het |
| Or2d3c |
A |
T |
7: 106,525,777 (GRCm39) |
D296E |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,167 (GRCm39) |
C168S |
probably damaging |
Het |
| Or7e175 |
A |
T |
9: 20,048,871 (GRCm39) |
N153I |
probably benign |
Het |
| Or9s23 |
G |
A |
1: 92,501,810 (GRCm39) |
D306N |
probably benign |
Het |
| Pck1 |
A |
G |
2: 172,997,743 (GRCm39) |
T271A |
possibly damaging |
Het |
| Penk |
A |
G |
4: 4,133,976 (GRCm39) |
W224R |
possibly damaging |
Het |
| Per2 |
C |
A |
1: 91,372,481 (GRCm39) |
V198F |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,280 (GRCm39) |
M23T |
probably damaging |
Het |
| Pla2g4d |
A |
G |
2: 120,097,211 (GRCm39) |
V796A |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,143,122 (GRCm39) |
N360K |
possibly damaging |
Het |
| Prdx6 |
A |
T |
1: 161,069,428 (GRCm39) |
|
probably null |
Het |
| Prep |
A |
T |
10: 44,967,108 (GRCm39) |
N47I |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,212,064 (GRCm39) |
|
probably null |
Het |
| Prss38 |
G |
T |
11: 59,265,996 (GRCm39) |
H96N |
probably damaging |
Het |
| Rab11a |
C |
A |
9: 64,635,613 (GRCm39) |
E47* |
probably null |
Het |
| Rad18 |
C |
T |
6: 112,626,798 (GRCm39) |
G369D |
probably benign |
Het |
| Rragc |
T |
C |
4: 123,823,717 (GRCm39) |
V330A |
probably damaging |
Het |
| Serpina9 |
A |
T |
12: 103,967,680 (GRCm39) |
H238Q |
probably benign |
Het |
| Serpinb3b |
T |
A |
1: 107,085,467 (GRCm39) |
K91N |
probably damaging |
Het |
| Slc16a12 |
T |
G |
19: 34,652,730 (GRCm39) |
S139R |
probably benign |
Het |
| Slc22a27 |
T |
A |
19: 7,887,472 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
A |
G |
11: 70,536,005 (GRCm39) |
V243A |
probably benign |
Het |
| Slc38a9 |
A |
T |
13: 112,868,148 (GRCm39) |
I545F |
probably benign |
Het |
| Slc39a8 |
A |
T |
3: 135,590,157 (GRCm39) |
H349L |
probably damaging |
Het |
| Slk |
C |
T |
19: 47,630,510 (GRCm39) |
T1227I |
possibly damaging |
Het |
| Spdye4b |
A |
G |
5: 143,180,609 (GRCm39) |
E25G |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,114 (GRCm39) |
V214A |
probably benign |
Het |
| St7l |
T |
A |
3: 104,833,893 (GRCm39) |
M550K |
probably benign |
Het |
| Tbk1 |
A |
C |
10: 121,388,151 (GRCm39) |
F638C |
possibly damaging |
Het |
| Tex101 |
A |
T |
7: 24,369,190 (GRCm39) |
C114S |
probably damaging |
Het |
| Ttll13 |
A |
G |
7: 79,905,135 (GRCm39) |
M384V |
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,402,189 (GRCm39) |
D147E |
probably damaging |
Het |
| Vmn1r10 |
A |
T |
6: 57,090,686 (GRCm39) |
T93S |
probably benign |
Het |
| Wasl |
G |
A |
6: 24,619,396 (GRCm39) |
P375S |
unknown |
Het |
| Zfp236 |
C |
A |
18: 82,692,481 (GRCm39) |
E165* |
probably null |
Het |
| Zfp839 |
A |
T |
12: 110,822,060 (GRCm39) |
R291S |
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 |
|
|
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 |
|
|
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 |
|
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'- ATGACGGGCATCAGAGCATC -3'
(R):5'- AAGCCACCTTGGAAATAGCC -3'
Sequencing Primer
(F):5'- GGCATCAGAGCATCTTGAACTGTC -3'
(R):5'- AGCCATTTAAGTGTCCAGTGATAGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation