Incidental Mutation 'R4789:Dennd3'
| ID |
367351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R4789 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73394131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 52
(L52Q)
|
| 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: L52Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: L52Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000162824
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173292
AA Change: L52Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: L52Q
| 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: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
C |
A |
7: 115,692,757 (GRCm39) |
D20E |
probably benign |
Het |
| Abcb9 |
T |
A |
5: 124,216,853 (GRCm39) |
M455L |
probably benign |
Het |
| Add2 |
G |
A |
6: 86,095,752 (GRCm39) |
V475M |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,300,064 (GRCm39) |
Y238N |
probably damaging |
Het |
| Arpp21 |
A |
G |
9: 111,896,360 (GRCm39) |
S681P |
probably benign |
Het |
| Atp1a3 |
A |
C |
7: 24,698,389 (GRCm39) |
F149C |
probably damaging |
Het |
| B9d1 |
A |
G |
11: 61,397,186 (GRCm39) |
D27G |
probably benign |
Het |
| Bfar |
T |
A |
16: 13,503,001 (GRCm39) |
M1K |
probably null |
Het |
| Bok |
T |
C |
1: 93,616,963 (GRCm39) |
V103A |
probably damaging |
Het |
| Brca1 |
A |
C |
11: 101,414,758 (GRCm39) |
H1125Q |
probably benign |
Het |
| Card9 |
T |
A |
2: 26,247,632 (GRCm39) |
M218L |
probably damaging |
Het |
| Cers1 |
T |
C |
8: 70,776,018 (GRCm39) |
V303A |
probably damaging |
Het |
| Col6a5 |
T |
C |
9: 105,814,534 (GRCm39) |
I493V |
unknown |
Het |
| Coro7 |
T |
C |
16: 4,446,085 (GRCm39) |
Y880C |
probably damaging |
Het |
| Cyp2b19 |
T |
C |
7: 26,463,801 (GRCm39) |
Y318H |
probably benign |
Het |
| Dlat |
A |
T |
9: 50,570,670 (GRCm39) |
C33S |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,287,099 (GRCm39) |
Q2646L |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,610,295 (GRCm39) |
N1703D |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,518,998 (GRCm39) |
H1241L |
probably damaging |
Het |
| Fbxl17 |
T |
G |
17: 63,794,910 (GRCm39) |
I391L |
probably benign |
Het |
| Fdxacb1 |
A |
G |
9: 50,681,418 (GRCm39) |
D113G |
possibly damaging |
Het |
| Flii |
A |
G |
11: 60,605,919 (GRCm39) |
S1185P |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,637,577 (GRCm39) |
Q217L |
possibly damaging |
Het |
| Heatr9 |
A |
T |
11: 83,410,018 (GRCm39) |
D74E |
probably benign |
Het |
| Heca |
C |
A |
10: 17,783,895 (GRCm39) |
E91* |
probably null |
Het |
| Ikzf4 |
T |
G |
10: 128,468,575 (GRCm39) |
T635P |
probably benign |
Het |
| Kif17 |
C |
T |
4: 138,008,688 (GRCm39) |
P382S |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,865,330 (GRCm39) |
V775A |
probably benign |
Het |
| Mapk8ip2 |
T |
A |
15: 89,343,241 (GRCm39) |
F661Y |
probably damaging |
Het |
| Mapkap1 |
A |
G |
2: 34,423,859 (GRCm39) |
E111G |
possibly damaging |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Mid2 |
T |
A |
X: 139,578,981 (GRCm39) |
Y61N |
probably damaging |
Het |
| Mief1 |
T |
A |
15: 80,132,080 (GRCm39) |
Y50* |
probably null |
Het |
| Mios |
T |
C |
6: 8,235,429 (GRCm39) |
M859T |
probably benign |
Het |
| Muc5ac |
G |
T |
7: 141,352,619 (GRCm39) |
C702F |
possibly damaging |
Het |
| Nkiras1 |
T |
C |
14: 18,276,935 (GRCm38) |
|
probably benign |
Het |
| Or11i1 |
A |
C |
3: 106,729,608 (GRCm39) |
I89R |
possibly damaging |
Het |
| Or11i1 |
T |
A |
3: 106,729,624 (GRCm39) |
M84L |
possibly damaging |
Het |
| Or56a3b |
T |
G |
7: 104,771,520 (GRCm39) |
H285Q |
probably null |
Het |
| Or5ae2 |
T |
A |
7: 84,506,509 (GRCm39) |
C311S |
probably benign |
Het |
| Pcsk5 |
C |
T |
19: 17,410,963 (GRCm39) |
V1810M |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,680,270 (GRCm39) |
V964A |
probably damaging |
Het |
| Pgm2l1 |
A |
T |
7: 99,916,794 (GRCm39) |
M471L |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,738,314 (GRCm39) |
T2182A |
probably damaging |
Het |
| Plscr1l1 |
G |
A |
9: 92,233,084 (GRCm39) |
C69Y |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,951,257 (GRCm39) |
I290K |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 31,563,045 (GRCm39) |
M119L |
probably damaging |
Het |
| Rbl1 |
A |
G |
2: 157,019,275 (GRCm39) |
V490A |
probably benign |
Het |
| Shtn1 |
G |
C |
19: 59,039,305 (GRCm39) |
R45G |
probably damaging |
Het |
| Slc10a6 |
T |
A |
5: 103,776,848 (GRCm39) |
Y84F |
probably benign |
Het |
| Slc25a23 |
T |
C |
17: 57,366,597 (GRCm39) |
D26G |
probably damaging |
Het |
| Slc41a2 |
T |
C |
10: 83,152,320 (GRCm39) |
K52E |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,247,951 (GRCm39) |
F501L |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,847,226 (GRCm39) |
M37K |
probably benign |
Het |
| Sptbn1 |
A |
C |
11: 30,067,759 (GRCm39) |
F1818L |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,956,770 (GRCm39) |
T466A |
probably damaging |
Het |
| Thbs2 |
C |
T |
17: 14,891,750 (GRCm39) |
G929D |
probably damaging |
Het |
| Tmc3 |
A |
T |
7: 83,271,746 (GRCm39) |
D995V |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,452 (GRCm39) |
F59L |
possibly damaging |
Het |
| Triobp |
A |
G |
15: 78,875,228 (GRCm39) |
D137G |
probably damaging |
Het |
| Tspear |
T |
C |
10: 77,702,199 (GRCm39) |
F211L |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,728,670 (GRCm39) |
|
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,550 (GRCm39) |
M206L |
probably benign |
Het |
| Ush1g |
A |
T |
11: 115,209,466 (GRCm39) |
S243T |
probably damaging |
Het |
| Usp19 |
A |
T |
9: 108,370,433 (GRCm39) |
T86S |
possibly damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,506,149 (GRCm39) |
V255A |
probably benign |
Het |
| Wdr11 |
G |
A |
7: 129,220,394 (GRCm39) |
W594* |
probably null |
Het |
| Wnk3 |
T |
A |
X: 149,993,933 (GRCm39) |
Y331* |
probably null |
Het |
| Zfp429 |
A |
T |
13: 67,538,523 (GRCm39) |
I307K |
probably benign |
Het |
| Zkscan14 |
T |
A |
5: 145,132,444 (GRCm39) |
K362N |
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 |
|
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'- GCCTTTAGCTCTGTTCACATGTATG -3'
(R):5'- TGACATCTTCAGAATCGGGC -3'
Sequencing Primer
(F):5'- CGTGTACATGCGCACATATG -3'
(R):5'- TTCAGAATCGGGCCCCTTG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation