Incidental Mutation 'R7806:Dennd3'
ID |
600816 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd3
|
Ensembl Gene |
ENSMUSG00000036661 |
Gene Name |
DENN domain containing 3 |
Synonyms |
E030003N15Rik |
MMRRC Submission |
045861-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.189)
|
Stock # |
R7806 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 73442624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 1216
(L1216M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000160267]
[ENSMUST00000173292]
|
AlphaFold |
A2RT67 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043414
AA Change: L1216M
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000046774 Gene: ENSMUSG00000036661 AA Change: L1216M
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 |
probably benign
Transcript: ENSMUST00000173292
|
SMART Domains |
Protein: ENSMUSP00000134002 Gene: ENSMUSG00000036661
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: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (83/85) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
C |
A |
8: 125,569,143 (GRCm39) |
V144F |
probably benign |
Het |
Aar2 |
T |
A |
2: 156,393,031 (GRCm39) |
I140N |
possibly damaging |
Het |
Abca15 |
A |
G |
7: 119,932,059 (GRCm39) |
N104S |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,142,825 (GRCm39) |
N803K |
probably damaging |
Het |
Adk |
A |
G |
14: 21,376,679 (GRCm39) |
N26S |
|
Het |
Ak9 |
A |
C |
10: 41,309,080 (GRCm39) |
|
probably null |
Het |
Alpk2 |
T |
C |
18: 65,482,487 (GRCm39) |
D40G |
probably benign |
Het |
Ankrd65 |
A |
T |
4: 155,877,437 (GRCm39) |
H316L |
probably benign |
Het |
Cabp7 |
C |
T |
11: 4,688,889 (GRCm39) |
A194T |
probably damaging |
Het |
Ccdc180 |
A |
C |
4: 45,912,801 (GRCm39) |
K593N |
possibly damaging |
Het |
Cd80 |
A |
G |
16: 38,294,315 (GRCm39) |
D66G |
probably benign |
Het |
Cdh5 |
T |
C |
8: 104,867,448 (GRCm39) |
V575A |
probably damaging |
Het |
Cep350 |
T |
C |
1: 155,737,809 (GRCm39) |
Q2678R |
probably benign |
Het |
Cideb |
G |
A |
14: 55,992,625 (GRCm39) |
T97M |
probably damaging |
Het |
Clca4b |
T |
C |
3: 144,638,157 (GRCm39) |
D35G |
probably benign |
Het |
Clpx |
T |
C |
9: 65,207,213 (GRCm39) |
V37A |
probably benign |
Het |
Cmya5 |
A |
C |
13: 93,230,770 (GRCm39) |
S1439R |
probably benign |
Het |
Cndp2 |
T |
A |
18: 84,688,945 (GRCm39) |
H279L |
probably benign |
Het |
Cngb1 |
A |
T |
8: 96,025,432 (GRCm39) |
|
probably null |
Het |
Cpq |
T |
A |
15: 33,497,443 (GRCm39) |
N394K |
possibly damaging |
Het |
Dedd |
T |
C |
1: 171,166,062 (GRCm39) |
L60P |
probably benign |
Het |
Dntt |
A |
T |
19: 41,018,071 (GRCm39) |
N65I |
probably benign |
Het |
Fap |
T |
A |
2: 62,333,758 (GRCm39) |
E662V |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,700,821 (GRCm39) |
M2066K |
probably benign |
Het |
Fggy |
G |
A |
4: 95,489,203 (GRCm39) |
G69E |
probably benign |
Het |
Foxc1 |
G |
T |
13: 31,992,739 (GRCm39) |
G517C |
unknown |
Het |
Gas2l3 |
A |
G |
10: 89,249,232 (GRCm39) |
Y629H |
probably benign |
Het |
Gcnt2 |
A |
G |
13: 41,071,717 (GRCm39) |
N120S |
probably damaging |
Het |
Gfpt2 |
A |
G |
11: 49,714,142 (GRCm39) |
T300A |
probably benign |
Het |
Glud1 |
A |
G |
14: 34,065,606 (GRCm39) |
R535G |
probably damaging |
Het |
Gm3248 |
T |
A |
14: 5,943,883 (GRCm38) |
I114L |
probably benign |
Het |
Gm3278 |
G |
A |
14: 16,082,211 (GRCm39) |
|
probably null |
Het |
Gm3402 |
A |
C |
5: 146,451,090 (GRCm39) |
K44Q |
probably damaging |
Het |
Gm3696 |
C |
G |
14: 18,433,094 (GRCm39) |
R188S |
probably benign |
Het |
Gm3696 |
C |
A |
14: 18,433,095 (GRCm39) |
R188M |
probably benign |
Het |
Gmppa |
T |
C |
1: 75,415,581 (GRCm39) |
L113P |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,890,091 (GRCm39) |
|
probably null |
Het |
Gnal |
T |
A |
18: 67,346,145 (GRCm39) |
M275K |
probably damaging |
Het |
Gopc |
G |
C |
10: 52,229,525 (GRCm39) |
N231K |
probably damaging |
Het |
Gpr152 |
T |
C |
19: 4,193,487 (GRCm39) |
S343P |
probably benign |
Het |
Gpr17 |
T |
C |
18: 32,080,593 (GRCm39) |
I157V |
probably benign |
Het |
Grm7 |
T |
A |
6: 111,223,314 (GRCm39) |
Y451* |
probably null |
Het |
Ikbke |
T |
C |
1: 131,199,635 (GRCm39) |
E286G |
probably damaging |
Het |
Inpp5b |
A |
T |
4: 124,678,881 (GRCm39) |
|
probably null |
Het |
Iqgap2 |
G |
A |
13: 95,818,765 (GRCm39) |
L664F |
probably benign |
Het |
Kif17 |
A |
G |
4: 138,015,507 (GRCm39) |
E552G |
possibly damaging |
Het |
Lamtor1 |
T |
A |
7: 101,555,220 (GRCm39) |
Y5* |
probably null |
Het |
Lpin2 |
A |
G |
17: 71,552,166 (GRCm39) |
I829V |
probably damaging |
Het |
Lrg1 |
T |
G |
17: 56,426,967 (GRCm39) |
D335A |
probably benign |
Het |
Lrriq3 |
T |
C |
3: 154,804,444 (GRCm39) |
Y35H |
probably damaging |
Het |
Mkx |
T |
A |
18: 7,000,607 (GRCm39) |
M112L |
probably benign |
Het |
Mlxipl |
A |
C |
5: 135,163,397 (GRCm39) |
D760A |
possibly damaging |
Het |
Muc6 |
T |
C |
7: 141,217,387 (GRCm39) |
T2429A |
possibly damaging |
Het |
N4bp2l2 |
A |
G |
5: 150,566,715 (GRCm39) |
C134R |
unknown |
Het |
Nanos1 |
A |
G |
19: 60,744,972 (GRCm39) |
E90G |
probably benign |
Het |
Nckap1 |
T |
C |
2: 80,371,843 (GRCm39) |
D329G |
probably damaging |
Het |
Or13a18 |
T |
C |
7: 140,190,685 (GRCm39) |
I194T |
probably benign |
Het |
Or14j9 |
A |
C |
17: 37,875,112 (GRCm39) |
L30R |
probably damaging |
Het |
Or8b12c |
T |
C |
9: 37,715,872 (GRCm39) |
S222P |
probably damaging |
Het |
Or8g51 |
G |
T |
9: 38,609,567 (GRCm39) |
L32I |
probably benign |
Het |
Osbpl7 |
A |
G |
11: 96,946,954 (GRCm39) |
H419R |
probably benign |
Het |
Otog |
C |
T |
7: 45,935,200 (GRCm39) |
T1395I |
probably benign |
Het |
Pigq |
T |
A |
17: 26,150,700 (GRCm39) |
I451F |
probably benign |
Het |
Ptgfrn |
A |
G |
3: 100,984,448 (GRCm39) |
V248A |
possibly damaging |
Het |
Rdh19 |
G |
T |
10: 127,692,740 (GRCm39) |
V136L |
probably damaging |
Het |
Rfesd |
T |
C |
13: 76,156,308 (GRCm39) |
T33A |
possibly damaging |
Het |
Rnf213 |
G |
A |
11: 119,302,371 (GRCm39) |
V432M |
|
Het |
Rpl22l1 |
T |
A |
3: 28,860,962 (GRCm39) |
L60Q |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
Samd3 |
A |
G |
10: 26,120,425 (GRCm39) |
T140A |
probably benign |
Het |
Sbf1 |
A |
G |
15: 89,189,623 (GRCm39) |
V419A |
possibly damaging |
Het |
Serpinb6a |
T |
C |
13: 34,119,548 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
A |
G |
11: 53,881,476 (GRCm39) |
L414P |
probably damaging |
Het |
Smarcd3 |
A |
T |
5: 24,798,260 (GRCm39) |
V420D |
probably benign |
Het |
Tcaim |
A |
G |
9: 122,663,995 (GRCm39) |
D495G |
probably damaging |
Het |
Tep1 |
A |
G |
14: 51,074,266 (GRCm39) |
V1873A |
possibly damaging |
Het |
Tmcc2 |
T |
C |
1: 132,288,527 (GRCm39) |
N387D |
probably damaging |
Het |
Tmed8 |
A |
T |
12: 87,219,204 (GRCm39) |
I322N |
probably damaging |
Het |
Tmod4 |
A |
C |
3: 95,034,915 (GRCm39) |
D168A |
probably benign |
Het |
Trgc2 |
A |
T |
13: 19,491,390 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
C |
T |
2: 121,035,542 (GRCm39) |
E1520K |
probably damaging |
Het |
Trpv5 |
T |
A |
6: 41,651,867 (GRCm39) |
I183F |
probably damaging |
Het |
Vmn2r70 |
A |
T |
7: 85,208,401 (GRCm39) |
I692K |
probably benign |
Het |
Vmn2r87 |
T |
A |
10: 130,315,679 (GRCm39) |
Y129F |
probably benign |
Het |
Vps8 |
A |
G |
16: 21,278,501 (GRCm39) |
D253G |
probably damaging |
Het |
Ythdc2 |
T |
C |
18: 44,977,353 (GRCm39) |
I383T |
possibly damaging |
Het |
Ythdc2 |
T |
C |
18: 44,983,491 (GRCm39) |
S553P |
probably benign |
Het |
Zfyve26 |
A |
G |
12: 79,327,129 (GRCm39) |
|
probably null |
Het |
Zic1 |
G |
A |
9: 91,247,024 (GRCm39) |
T16I |
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 |
|
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'- ACAATTACAGCTGAAGTTGCCC -3'
(R):5'- CAGATGGCGATCTTTCCCTC -3'
Sequencing Primer
(F):5'- GAGCTGTGGCCACATTATCCTG -3'
(R):5'- GGCGATCTTTCCCTCCTCCTG -3'
|
Posted On |
2019-11-26 |