Incidental Mutation 'R7731:Dennd3'
| ID |
595867 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd3
|
| Ensembl Gene |
ENSMUSG00000036661 |
| Gene Name |
DENN domain containing 3 |
| Synonyms |
E030003N15Rik |
| MMRRC Submission |
045787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.189)
|
| Stock # |
R7731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
73384409-73444091 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 73434216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 962
(H962L)
|
| 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: H962L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: H962L
| 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: H40L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124538
Gene: ENSMUSG00000036661
AA Change: H40L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
51 |
90 |
2e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173292
AA Change: H962L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: H962L
| 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: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,470 (GRCm39) |
E210G |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,691,363 (GRCm39) |
T372A |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,451 (GRCm39) |
S1049T |
probably damaging |
Het |
| Agmo |
G |
A |
12: 37,464,939 (GRCm39) |
R405K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,031 (GRCm39) |
T217A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,603,107 (GRCm39) |
N45K |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,622,172 (GRCm39) |
T560I |
probably benign |
Het |
| Aqp1 |
T |
C |
6: 55,322,804 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,434,936 (GRCm39) |
V194M |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,086 (GRCm39) |
V320A |
probably benign |
Het |
| B230217C12Rik |
T |
C |
11: 97,732,226 (GRCm39) |
L2P |
unknown |
Het |
| Bco1 |
C |
A |
8: 117,857,807 (GRCm39) |
S477R |
possibly damaging |
Het |
| Brd4 |
A |
G |
17: 32,430,198 (GRCm39) |
S703P |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,892,275 (GRCm39) |
N339K |
|
Het |
| Cebpb |
A |
G |
2: 167,531,126 (GRCm39) |
D62G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,546 (GRCm39) |
I890V |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,633 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
T |
C |
11: 118,059,879 (GRCm39) |
T374A |
possibly damaging |
Het |
| Dhtkd1 |
T |
G |
2: 5,928,923 (GRCm39) |
L249F |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,178,905 (GRCm39) |
H859Q |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,025,265 (GRCm39) |
D115G |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,871 (GRCm39) |
I111V |
probably benign |
Het |
| Exoc3l4 |
G |
C |
12: 111,397,182 (GRCm39) |
D688H |
possibly damaging |
Het |
| Fan1 |
C |
T |
7: 64,022,444 (GRCm39) |
V270I |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,532 (GRCm39) |
I514N |
probably damaging |
Het |
| Fndc1 |
G |
A |
17: 7,992,271 (GRCm39) |
T475I |
unknown |
Het |
| Fstl5 |
T |
A |
3: 76,569,069 (GRCm39) |
I574N |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,057,258 (GRCm39) |
V435A |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,327 (GRCm39) |
F492S |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,361 (GRCm39) |
N386K |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,983,367 (GRCm39) |
D362E |
possibly damaging |
Het |
| Hectd4 |
A |
C |
5: 121,445,077 (GRCm39) |
M105L |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,458 (GRCm39) |
P2424L |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,157,791 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,111,665 (GRCm39) |
V122A |
probably damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,302 (GRCm39) |
N402K |
possibly damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,921,927 (GRCm39) |
F207S |
probably damaging |
Het |
| Kbtbd8 |
C |
A |
6: 95,095,559 (GRCm39) |
N24K |
probably benign |
Het |
| Krtap10-4 |
T |
G |
10: 77,662,654 (GRCm39) |
T75P |
unknown |
Het |
| Macf1 |
C |
A |
4: 123,338,672 (GRCm39) |
S4355I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,042 (GRCm39) |
|
probably null |
Het |
| Myo3a |
G |
A |
2: 22,287,400 (GRCm39) |
V179M |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,048,870 (GRCm39) |
T462K |
possibly damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,141 (GRCm39) |
S91T |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,561 (GRCm39) |
M103V |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,424,141 (GRCm39) |
I137V |
probably benign |
Het |
| Or5j1 |
T |
C |
2: 86,879,578 (GRCm39) |
M1V |
probably null |
Het |
| Or8b53 |
A |
G |
9: 38,667,542 (GRCm39) |
Q186R |
possibly damaging |
Het |
| Ostn |
G |
A |
16: 27,165,668 (GRCm39) |
R119Q |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,889,564 (GRCm39) |
N191Y |
probably benign |
Het |
| Pcsk6 |
A |
T |
7: 65,683,641 (GRCm39) |
Q752L |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,890,871 (GRCm39) |
T347A |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,792,872 (GRCm39) |
R1520W |
probably damaging |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,399,732 (GRCm39) |
S2264P |
probably damaging |
Het |
| Ptcd1 |
C |
A |
5: 145,088,174 (GRCm39) |
R612S |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,965,492 (GRCm39) |
F359Y |
probably benign |
Het |
| Ptprr |
A |
C |
10: 116,073,200 (GRCm39) |
D474A |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,490,274 (GRCm39) |
Q846K |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 118,999,677 (GRCm39) |
A505T |
possibly damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,650 (GRCm39) |
Y151C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,487,993 (GRCm39) |
V450A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,821 (GRCm39) |
Y43C |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,743,858 (GRCm39) |
H460R |
probably benign |
Het |
| Syt15 |
A |
T |
14: 33,945,024 (GRCm39) |
E190D |
possibly damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,797,993 (GRCm39) |
K716R |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,681,993 (GRCm39) |
I120M |
probably damaging |
Het |
| Tgm1 |
T |
G |
14: 55,947,978 (GRCm39) |
I274L |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,232,905 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,488,952 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,956 (GRCm39) |
S306G |
possibly damaging |
Het |
| Tut1 |
T |
A |
19: 8,936,626 (GRCm39) |
V150D |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,275 (GRCm39) |
F143L |
|
Het |
| Vmn1r23 |
T |
C |
6: 57,903,319 (GRCm39) |
K153R |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,698,798 (GRCm39) |
D94E |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,690 (GRCm39) |
Y414H |
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 |
|
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 |
|
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'- TCACAGATGAATGCGACCTC -3'
(R):5'- TGACCAATTCAGAGTCTGCC -3'
Sequencing Primer
(F):5'- TGAATGCGACCTCAAGCTG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation