Incidental Mutation 'R2174:Dennd3'
| ID |
237731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
040176-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.210)
|
| Stock # |
R2174 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73427154 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 844
(R844W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134002
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000160267]
[ENSMUST00000173292]
|
| AlphaFold |
A2RT67 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043414
AA Change: R844W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: R844W
| 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 benign
Transcript: ENSMUST00000160267
|
| SMART Domains |
Protein: ENSMUSP00000124538
Gene: ENSMUSG00000036661
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
51 |
90 |
2e-9 |
BLAST |
|
| 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: R844W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: R844W
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
99% (73/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C10Rik |
T |
C |
7: 37,894,252 (GRCm39) |
I95T |
possibly damaging |
Het |
| Adarb1 |
A |
G |
10: 77,131,632 (GRCm39) |
I619T |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,731 (GRCm39) |
|
probably benign |
Het |
| Antxrl |
T |
A |
14: 33,782,357 (GRCm39) |
L180Q |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,386,760 (GRCm39) |
I289N |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,586,701 (GRCm39) |
S164A |
possibly damaging |
Het |
| Cacnb2 |
C |
T |
2: 14,963,578 (GRCm39) |
T108I |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,307,290 (GRCm39) |
I516N |
probably benign |
Het |
| Ccdc59 |
A |
T |
10: 105,677,388 (GRCm39) |
K9M |
possibly damaging |
Het |
| Cenpo |
T |
C |
12: 4,267,318 (GRCm39) |
K73R |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,558,109 (GRCm38) |
I159V |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,487,825 (GRCm39) |
H823R |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,937,331 (GRCm39) |
D1395G |
probably damaging |
Het |
| Ddx60 |
A |
G |
8: 62,409,175 (GRCm39) |
I404V |
probably damaging |
Het |
| Ddx60 |
G |
T |
8: 62,470,234 (GRCm39) |
M1407I |
probably benign |
Het |
| Depdc1b |
A |
T |
13: 108,498,787 (GRCm39) |
K157* |
probably null |
Het |
| Dnai7 |
T |
C |
6: 145,120,896 (GRCm39) |
H641R |
probably damaging |
Het |
| Dnajc1 |
T |
C |
2: 18,312,762 (GRCm39) |
D196G |
probably damaging |
Het |
| Fanca |
A |
G |
8: 123,998,009 (GRCm39) |
W1226R |
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,787,046 (GRCm39) |
V297A |
possibly damaging |
Het |
| Fnta |
A |
T |
8: 26,503,498 (GRCm39) |
F96I |
possibly damaging |
Het |
| Fzd3 |
T |
C |
14: 65,449,680 (GRCm39) |
|
probably benign |
Het |
| Gckr |
T |
C |
5: 31,484,353 (GRCm39) |
V597A |
possibly damaging |
Het |
| Gm43302 |
T |
C |
5: 105,422,216 (GRCm39) |
K496R |
probably benign |
Het |
| Gm5283 |
A |
G |
3: 17,285,005 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6741 |
A |
G |
17: 91,544,332 (GRCm39) |
I32V |
probably benign |
Het |
| Gnptab |
T |
A |
10: 88,269,906 (GRCm39) |
F870I |
probably damaging |
Het |
| Gpx8 |
G |
A |
13: 113,182,140 (GRCm39) |
P98S |
probably benign |
Het |
| Grm2 |
T |
C |
9: 106,524,994 (GRCm39) |
I574V |
probably benign |
Het |
| Gtf3c5 |
T |
C |
2: 28,457,787 (GRCm39) |
D468G |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,856,898 (GRCm39) |
M482L |
probably benign |
Het |
| Ier5 |
G |
T |
1: 154,974,599 (GRCm39) |
P193H |
possibly damaging |
Het |
| Inpp4a |
A |
G |
1: 37,435,211 (GRCm39) |
N827S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,922,652 (GRCm39) |
L387P |
probably damaging |
Het |
| Map3k1 |
G |
C |
13: 111,889,016 (GRCm39) |
H1314D |
possibly damaging |
Het |
| Mbl2 |
G |
A |
19: 30,211,412 (GRCm39) |
C11Y |
possibly damaging |
Het |
| Msr1 |
A |
G |
8: 40,084,381 (GRCm39) |
L58P |
probably damaging |
Het |
| Mtmr10 |
T |
A |
7: 63,986,512 (GRCm39) |
F530Y |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,116,610 (GRCm39) |
L999P |
probably damaging |
Het |
| Myoz3 |
T |
C |
18: 60,723,296 (GRCm39) |
E8G |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,435,495 (GRCm39) |
M1009I |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,102,411 (GRCm39) |
M342K |
probably damaging |
Het |
| Ndufaf6 |
T |
C |
4: 11,070,228 (GRCm39) |
H131R |
probably benign |
Het |
| Nlrp4a |
T |
C |
7: 26,148,849 (GRCm39) |
L152P |
probably damaging |
Het |
| Or9s23 |
A |
G |
1: 92,501,379 (GRCm39) |
N162S |
probably benign |
Het |
| Pan3 |
T |
C |
5: 147,387,463 (GRCm39) |
I144T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,552,786 (GRCm39) |
Q2074L |
probably benign |
Het |
| Pthlh |
G |
A |
6: 147,158,510 (GRCm39) |
T150I |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,541,414 (GRCm39) |
Y371N |
probably damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,009,975 (GRCm39) |
S377P |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Sap130 |
T |
C |
18: 31,810,532 (GRCm39) |
|
probably null |
Het |
| Sap25 |
T |
G |
5: 137,640,891 (GRCm39) |
M229R |
possibly damaging |
Het |
| Scaper |
A |
T |
9: 55,766,321 (GRCm39) |
V479E |
probably null |
Het |
| Scn3a |
T |
A |
2: 65,337,550 (GRCm39) |
D649V |
probably damaging |
Het |
| Slco1a7 |
A |
T |
6: 141,673,319 (GRCm39) |
Y406* |
probably null |
Het |
| Smc1b |
A |
G |
15: 85,006,052 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
T |
C |
5: 93,192,284 (GRCm39) |
E145G |
possibly damaging |
Het |
| Stxbp5 |
T |
A |
10: 9,711,590 (GRCm39) |
I277F |
possibly damaging |
Het |
| Tanc1 |
T |
C |
2: 59,674,177 (GRCm39) |
S1754P |
possibly damaging |
Het |
| Tanc2 |
A |
G |
11: 105,801,135 (GRCm39) |
D1117G |
probably benign |
Het |
| Tbc1d31 |
A |
G |
15: 57,815,137 (GRCm39) |
M605V |
possibly damaging |
Het |
| Tekt3 |
A |
T |
11: 62,985,514 (GRCm39) |
D440V |
possibly damaging |
Het |
| Tmem67 |
C |
T |
4: 12,063,730 (GRCm39) |
W477* |
probably null |
Het |
| Tra2a |
T |
C |
6: 49,227,861 (GRCm39) |
|
probably benign |
Het |
| Trappc12 |
A |
G |
12: 28,797,380 (GRCm39) |
F51L |
possibly damaging |
Het |
| Trrap |
C |
A |
5: 144,758,665 (GRCm39) |
P2183Q |
probably benign |
Het |
| Ubn2 |
T |
A |
6: 38,447,076 (GRCm39) |
|
probably null |
Het |
| Unc5d |
A |
T |
8: 29,184,568 (GRCm39) |
V644E |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,827,547 (GRCm39) |
L883P |
probably damaging |
Het |
| Zbbx |
T |
G |
3: 74,959,721 (GRCm39) |
D616A |
possibly damaging |
Het |
| Zfp943 |
T |
A |
17: 22,211,804 (GRCm39) |
C297S |
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 |
|
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'- TACACCTGCTGGAAGGAGAC -3'
(R):5'- TCCTCCTTTGGACGAATATAATGTG -3'
Sequencing Primer
(F):5'- CCTGCTGGAAGGAGACTGAGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation