Incidental Mutation 'R7929:Dennd3'
| ID |
643491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
045976-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R7929 (G1)
|
| Quality Score |
999 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 73436423 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1010
(V1010L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046774
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000160267]
[ENSMUST00000173292]
|
| AlphaFold |
A2RT67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043414
AA Change: V1010L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: V1010L
| 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: ENSMUST00000160267
AA Change: V88L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124538
Gene: ENSMUSG00000036661
AA Change: V88L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
51 |
90 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173292
AA Change: V1010L
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: V1010L
| 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: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
95% (59/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
A |
17: 37,289,412 (GRCm39) |
I105F |
possibly damaging |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Adra1d |
G |
T |
2: 131,403,600 (GRCm39) |
C163* |
probably null |
Het |
| Ak9 |
A |
G |
10: 41,259,944 (GRCm39) |
D874G |
|
Het |
| Akap8 |
A |
T |
17: 32,528,419 (GRCm39) |
S498T |
probably damaging |
Het |
| Alyref2 |
C |
G |
1: 171,331,407 (GRCm39) |
F61L |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,606,123 (GRCm39) |
I1172F |
probably damaging |
Het |
| Ankrd50 |
A |
T |
3: 38,511,258 (GRCm39) |
F370I |
probably damaging |
Het |
| Apip |
A |
C |
2: 102,913,366 (GRCm39) |
T41P |
probably benign |
Het |
| Atg4d |
G |
A |
9: 21,178,260 (GRCm39) |
R126Q |
probably null |
Het |
| Ccdc86 |
A |
G |
19: 10,926,183 (GRCm39) |
S139P |
unknown |
Het |
| Ceacam16 |
A |
G |
7: 19,587,556 (GRCm39) |
L404P |
probably damaging |
Het |
| Disp1 |
A |
G |
1: 182,917,103 (GRCm39) |
S108P |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,869,554 (GRCm39) |
C238R |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,388,195 (GRCm39) |
V635A |
probably damaging |
Het |
| Fkbp3 |
A |
G |
12: 65,116,812 (GRCm39) |
|
probably benign |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gars1 |
A |
G |
6: 55,040,102 (GRCm39) |
H343R |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,769,772 (GRCm39) |
N593K |
possibly damaging |
Het |
| Il18rap |
T |
A |
1: 40,570,740 (GRCm39) |
N227K |
probably damaging |
Het |
| Il4ra |
T |
C |
7: 125,174,348 (GRCm39) |
S297P |
probably benign |
Het |
| Itprid1 |
G |
A |
6: 55,874,946 (GRCm39) |
V299M |
probably damaging |
Het |
| Jak1 |
A |
T |
4: 101,011,842 (GRCm39) |
F1087I |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,698 (GRCm39) |
S113P |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,283,238 (GRCm39) |
E280V |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lama4 |
A |
G |
10: 38,954,843 (GRCm39) |
H1132R |
probably damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,444,572 (GRCm39) |
D1085G |
unknown |
Het |
| Lrrc9 |
C |
A |
12: 72,533,071 (GRCm39) |
T980K |
possibly damaging |
Het |
| Nceh1 |
A |
G |
3: 27,333,396 (GRCm39) |
D164G |
probably benign |
Het |
| Nlrp2 |
A |
G |
7: 5,330,498 (GRCm39) |
S633P |
probably damaging |
Het |
| Nxn |
A |
G |
11: 76,164,863 (GRCm39) |
V216A |
possibly damaging |
Het |
| Odf4 |
A |
T |
11: 68,813,759 (GRCm39) |
V143D |
possibly damaging |
Het |
| Or4d6 |
G |
A |
19: 12,086,118 (GRCm39) |
T38I |
unknown |
Het |
| Or4p4b-ps1 |
T |
C |
2: 88,454,219 (GRCm39) |
Y191H |
unknown |
Het |
| Pex12 |
A |
G |
11: 83,188,809 (GRCm39) |
I62T |
probably damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plekhg1 |
G |
A |
10: 3,869,170 (GRCm39) |
D237N |
probably damaging |
Het |
| Rxrb |
T |
A |
17: 34,255,645 (GRCm39) |
D377E |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,680 (GRCm39) |
D4382V |
probably damaging |
Het |
| Ryr2 |
T |
A |
13: 11,705,181 (GRCm39) |
K2862* |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,664,533 (GRCm39) |
L1606P |
probably benign |
Het |
| Samd3 |
A |
G |
10: 26,127,813 (GRCm39) |
K270R |
probably damaging |
Het |
| Slc2a5 |
C |
A |
4: 150,223,942 (GRCm39) |
F211L |
probably benign |
Het |
| Spata31 |
T |
A |
13: 65,069,532 (GRCm39) |
V560D |
probably benign |
Het |
| Sri |
T |
G |
5: 8,107,652 (GRCm39) |
|
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,393,138 (GRCm39) |
C471R |
probably benign |
Het |
| Tbx20 |
A |
T |
9: 24,637,059 (GRCm39) |
S343T |
possibly damaging |
Het |
| Tesk2 |
A |
G |
4: 116,659,452 (GRCm39) |
E304G |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,118,239 (GRCm39) |
F2L |
possibly damaging |
Het |
| Tle4 |
G |
T |
19: 14,495,244 (GRCm39) |
P162T |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,673,816 (GRCm39) |
P11172S |
unknown |
Het |
| Tulp1 |
T |
C |
17: 28,572,746 (GRCm39) |
N470S |
possibly damaging |
Het |
| Unc13b |
A |
G |
4: 43,174,399 (GRCm39) |
I1742M |
unknown |
Het |
| Vmn2r107 |
T |
G |
17: 20,565,706 (GRCm39) |
I7S |
probably null |
Het |
| Vmn2r91 |
T |
G |
17: 18,327,906 (GRCm39) |
I500R |
probably damaging |
Het |
| Xpnpep3 |
A |
G |
15: 81,311,626 (GRCm39) |
I111V |
probably damaging |
Het |
| Zp3r |
T |
A |
1: 130,519,217 (GRCm39) |
E308V |
probably benign |
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 |
|
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 |
|
|
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'- AGACTCACCAGGGAGTCATTG -3'
(R):5'- ATGTTCTTAAGGCCTCTCTGG -3'
Sequencing Primer
(F):5'- TCACCAGGGAGTCATTGTCACG -3'
(R):5'- CTGGCTTCTTAAAGTCACTCGGG -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation