Incidental Mutation 'R2147:Dennd3'
| ID |
233953 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
040150-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R2147 (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 G
at 73395336 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 143
(L143R)
|
| 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: L143R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: L143R
| 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: L143R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: L143R
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
T |
A |
1: 159,903,003 (GRCm39) |
M91K |
probably benign |
Het |
| Abr |
T |
C |
11: 76,346,474 (GRCm39) |
R437G |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,167,362 (GRCm39) |
D1045E |
probably benign |
Het |
| Adam23 |
A |
T |
1: 63,573,521 (GRCm39) |
|
probably null |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Alg11 |
G |
A |
8: 22,555,309 (GRCm39) |
G108D |
probably damaging |
Het |
| Alox12e |
A |
T |
11: 70,210,771 (GRCm39) |
I316N |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,408,677 (GRCm39) |
F1943L |
unknown |
Het |
| Armh4 |
T |
C |
14: 49,989,028 (GRCm39) |
D647G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,867,867 (GRCm39) |
|
probably benign |
Het |
| Bcor |
G |
A |
X: 11,923,862 (GRCm39) |
A578V |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,449,288 (GRCm39) |
|
probably null |
Het |
| Cdadc1 |
A |
G |
14: 59,835,202 (GRCm39) |
|
probably null |
Het |
| Cep57l1 |
A |
G |
10: 41,616,895 (GRCm39) |
Y131H |
probably damaging |
Het |
| Cfap251 |
T |
C |
5: 123,394,254 (GRCm39) |
V381A |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,272,047 (GRCm39) |
R1267G |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,239,854 (GRCm39) |
L1658Q |
probably benign |
Het |
| Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
| Chpf2 |
T |
A |
5: 24,797,033 (GRCm39) |
F660I |
probably damaging |
Het |
| Cmas |
T |
A |
6: 142,717,015 (GRCm39) |
D302E |
probably benign |
Het |
| Cpne3 |
T |
A |
4: 19,536,562 (GRCm39) |
M233L |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Ergic1 |
A |
G |
17: 26,855,024 (GRCm39) |
|
probably null |
Het |
| Fbxl15 |
A |
T |
19: 46,317,627 (GRCm39) |
D103V |
probably damaging |
Het |
| Gm4781 |
C |
A |
10: 100,232,414 (GRCm39) |
|
noncoding transcript |
Het |
| Hpca |
A |
G |
4: 129,012,278 (GRCm39) |
I86T |
possibly damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,010,212 (GRCm39) |
V275A |
probably benign |
Het |
| Lipe |
G |
T |
7: 25,087,946 (GRCm39) |
A38E |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,935,159 (GRCm39) |
|
probably null |
Het |
| Lrsam1 |
T |
C |
2: 32,835,891 (GRCm39) |
K292R |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,265,598 (GRCm39) |
H316Q |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,580,063 (GRCm39) |
Y525* |
probably null |
Het |
| Mrps14 |
T |
C |
1: 160,022,862 (GRCm39) |
L9P |
possibly damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,401,055 (GRCm39) |
D2992G |
possibly damaging |
Het |
| N4bp2 |
T |
A |
5: 65,966,543 (GRCm39) |
L1327Q |
probably damaging |
Het |
| Nradd |
A |
T |
9: 110,451,243 (GRCm39) |
F42I |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,842 (GRCm39) |
I77F |
probably damaging |
Het |
| Pank1 |
T |
C |
19: 34,804,754 (GRCm39) |
H134R |
probably benign |
Het |
| Pcdh7 |
T |
A |
5: 58,286,458 (GRCm39) |
M1178K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,717,633 (GRCm39) |
I1084N |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,958,165 (GRCm39) |
K950E |
unknown |
Het |
| Pitpnc1 |
C |
T |
11: 107,103,344 (GRCm39) |
A252T |
probably damaging |
Het |
| Prickle2 |
A |
G |
6: 92,402,652 (GRCm39) |
L112P |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,357 (GRCm39) |
I231V |
probably benign |
Het |
| Scin |
T |
A |
12: 40,130,984 (GRCm39) |
M310L |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,483 (GRCm39) |
I50N |
probably benign |
Het |
| Skint8 |
C |
G |
4: 111,794,274 (GRCm39) |
N221K |
probably damaging |
Het |
| Slc22a23 |
C |
T |
13: 34,366,990 (GRCm39) |
V673M |
probably benign |
Het |
| Slc24a5 |
A |
G |
2: 124,929,361 (GRCm39) |
D368G |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 80,776,015 (GRCm39) |
Q237L |
possibly damaging |
Het |
| Smchd1 |
T |
A |
17: 71,705,583 (GRCm39) |
K1005N |
possibly damaging |
Het |
| Stim2 |
T |
C |
5: 54,262,717 (GRCm39) |
Y320H |
probably damaging |
Het |
| Syne3 |
T |
A |
12: 104,919,357 (GRCm39) |
D512V |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Tcp10a |
T |
C |
17: 7,601,701 (GRCm39) |
S216P |
probably damaging |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Tmem236 |
A |
G |
2: 14,223,861 (GRCm39) |
I217V |
probably benign |
Het |
| Tmem45b |
A |
G |
9: 31,340,277 (GRCm39) |
V128A |
probably benign |
Het |
| Tnfaip2 |
T |
C |
12: 111,412,456 (GRCm39) |
Y286H |
probably damaging |
Het |
| Tsc2 |
T |
A |
17: 24,840,116 (GRCm39) |
I427L |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,132,139 (GRCm39) |
N1180I |
possibly damaging |
Het |
| Ubr1 |
T |
G |
2: 120,694,811 (GRCm39) |
D1707A |
probably damaging |
Het |
| Vmn1r11 |
A |
G |
6: 57,114,583 (GRCm39) |
I82M |
probably benign |
Het |
| Vmn2r129 |
T |
C |
4: 156,687,014 (GRCm39) |
|
noncoding transcript |
Het |
| Vps41 |
G |
T |
13: 19,023,904 (GRCm39) |
|
probably null |
Het |
| Wnt5a |
A |
G |
14: 28,235,274 (GRCm39) |
Y86C |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,209,616 (GRCm39) |
H731R |
probably damaging |
Het |
| Zfp712 |
T |
C |
13: 67,189,960 (GRCm39) |
E189G |
possibly 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 |
|
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'- CAAAGCTCCGGGTGGTTAGTAG -3'
(R):5'- ACAAGAAAATGTTCTGGAGGCCC -3'
Sequencing Primer
(F):5'- TAGGGGAAGTGTGCTCTCCAC -3'
(R):5'- TGGAAACTCAACGTCTCAGAGTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation