Incidental Mutation 'R7524:Dennd3'
ID |
582880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd3
|
Ensembl Gene |
ENSMUSG00000036661 |
Gene Name |
DENN/MADD domain containing 3 |
Synonyms |
E030003N15Rik |
MMRRC Submission |
045596-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R7524 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
73512560-73572242 bp(+) (GRCm38) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to G
at 73524246 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 201
(Y201*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046774
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043414]
[ENSMUST00000173292]
|
AlphaFold |
A2RT67 |
Predicted Effect |
probably null
Transcript: ENSMUST00000043414
AA Change: Y201*
|
SMART Domains |
Protein: ENSMUSP00000046774 Gene: ENSMUSG00000036661 AA Change: Y201*
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 null
Transcript: ENSMUST00000173292
AA Change: Y201*
|
SMART Domains |
Protein: ENSMUSP00000134002 Gene: ENSMUSG00000036661 AA Change: Y201*
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam29 |
C |
T |
8: 55,872,360 (GRCm38) |
C353Y |
probably damaging |
Het |
Afap1l2 |
T |
A |
19: 56,918,111 (GRCm38) |
E452V |
probably damaging |
Het |
AI464131 |
C |
A |
4: 41,498,779 (GRCm38) |
V284L |
probably benign |
Het |
Ak6 |
A |
G |
13: 100,663,907 (GRCm38) |
D45G |
probably benign |
Het |
Arhgap17 |
G |
A |
7: 123,306,420 (GRCm38) |
P334L |
probably damaging |
Het |
Asns |
G |
T |
6: 7,677,259 (GRCm38) |
|
probably null |
Het |
Bend7 |
A |
G |
2: 4,799,980 (GRCm38) |
T424A |
probably benign |
Het |
Btbd2 |
C |
T |
10: 80,646,444 (GRCm38) |
E241K |
probably damaging |
Het |
Commd2 |
A |
C |
3: 57,650,148 (GRCm38) |
L99W |
probably damaging |
Het |
Cpne9 |
A |
T |
6: 113,302,064 (GRCm38) |
D473V |
probably damaging |
Het |
Cuzd1 |
A |
T |
7: 131,311,618 (GRCm38) |
F423L |
probably damaging |
Het |
Cyp2d9 |
T |
C |
15: 82,455,945 (GRCm38) |
F390L |
probably damaging |
Het |
Dcaf5 |
T |
A |
12: 80,376,696 (GRCm38) |
Q234L |
probably benign |
Het |
Dnah17 |
T |
C |
11: 118,121,481 (GRCm38) |
D485G |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,297,066 (GRCm38) |
T1469S |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,118,099 (GRCm38) |
D2167G |
probably damaging |
Het |
Dst |
T |
C |
1: 34,291,893 (GRCm38) |
V4921A |
possibly damaging |
Het |
Ephb2 |
A |
G |
4: 136,659,709 (GRCm38) |
Y736H |
probably damaging |
Het |
Eri2 |
C |
G |
7: 119,785,749 (GRCm38) |
V510L |
probably benign |
Het |
Eya2 |
G |
A |
2: 165,769,326 (GRCm38) |
|
probably null |
Het |
Fam208a |
T |
A |
14: 27,466,203 (GRCm38) |
C869S |
probably damaging |
Het |
Fastkd5 |
G |
T |
2: 130,616,128 (GRCm38) |
Q181K |
probably benign |
Het |
Fcgbp |
T |
C |
7: 28,102,966 (GRCm38) |
S1440P |
probably damaging |
Het |
Fkbp9 |
G |
A |
6: 56,868,740 (GRCm38) |
V354M |
probably damaging |
Het |
Frmpd1 |
T |
A |
4: 45,271,181 (GRCm38) |
S304T |
probably benign |
Het |
Gtf2a2 |
T |
A |
9: 70,015,347 (GRCm38) |
Y3* |
probably null |
Het |
Hagh |
G |
A |
17: 24,861,340 (GRCm38) |
V226I |
probably benign |
Het |
Hemk1 |
T |
A |
9: 107,328,285 (GRCm38) |
I293F |
probably benign |
Het |
Kcna3 |
A |
G |
3: 107,037,207 (GRCm38) |
E262G |
probably damaging |
Het |
Kcnt2 |
A |
T |
1: 140,584,055 (GRCm38) |
T983S |
probably damaging |
Het |
Klhdc3 |
A |
T |
17: 46,678,414 (GRCm38) |
H7Q |
probably damaging |
Het |
Knl1 |
A |
T |
2: 119,065,979 (GRCm38) |
Q94L |
probably damaging |
Het |
Krt12 |
T |
C |
11: 99,419,659 (GRCm38) |
D224G |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,701,978 (GRCm38) |
S289T |
possibly damaging |
Het |
Man2a2 |
G |
C |
7: 80,368,865 (GRCm38) |
A82G |
probably benign |
Het |
Map1a |
G |
A |
2: 121,289,812 (GRCm38) |
V60M |
probably damaging |
Het |
Mms22l |
T |
A |
4: 24,536,138 (GRCm38) |
F536I |
possibly damaging |
Het |
Ms4a14 |
T |
C |
19: 11,303,836 (GRCm38) |
T453A |
unknown |
Het |
Muc3a |
A |
C |
5: 137,210,563 (GRCm38) |
I151S |
probably benign |
Het |
Oaf |
G |
A |
9: 43,222,780 (GRCm38) |
R215C |
probably damaging |
Het |
Olfr1019 |
T |
A |
2: 85,841,357 (GRCm38) |
M145L |
probably benign |
Het |
Olfr1217 |
T |
A |
2: 89,023,971 (GRCm38) |
I11L |
probably benign |
Het |
Olfr1233 |
A |
G |
2: 89,339,877 (GRCm38) |
C142R |
probably benign |
Het |
Olfr1507 |
T |
C |
14: 52,490,293 (GRCm38) |
I224V |
probably damaging |
Het |
Olfr5 |
T |
C |
7: 6,480,587 (GRCm38) |
N190D |
probably benign |
Het |
Olfr8 |
T |
A |
10: 78,955,491 (GRCm38) |
Y95* |
probably null |
Het |
Pcdhgb4 |
A |
T |
18: 37,721,608 (GRCm38) |
D352V |
probably benign |
Het |
Pced1a |
A |
G |
2: 130,422,028 (GRCm38) |
F235L |
probably benign |
Het |
Pclo |
A |
G |
5: 14,678,303 (GRCm38) |
I2392V |
unknown |
Het |
Pld1 |
A |
T |
3: 28,024,321 (GRCm38) |
D43V |
possibly damaging |
Het |
Ppp1r1b |
C |
A |
11: 98,350,894 (GRCm38) |
A51D |
possibly damaging |
Het |
Prr23a1 |
T |
A |
9: 98,842,864 (GRCm38) |
L93H |
probably damaging |
Het |
Psg20 |
T |
C |
7: 18,684,659 (GRCm38) |
D61G |
probably benign |
Het |
Rab40b |
T |
A |
11: 121,388,052 (GRCm38) |
I31F |
probably damaging |
Het |
Rasd2 |
T |
C |
8: 75,222,081 (GRCm38) |
F212L |
probably benign |
Het |
Rbl2 |
A |
G |
8: 91,115,193 (GRCm38) |
I1006V |
probably benign |
Het |
Sema6c |
A |
G |
3: 95,167,060 (GRCm38) |
E59G |
probably benign |
Het |
Slc22a2 |
G |
T |
17: 12,606,057 (GRCm38) |
V269L |
possibly damaging |
Het |
Slc2a1 |
C |
T |
4: 119,132,612 (GRCm38) |
P149S |
probably damaging |
Het |
Smad4 |
T |
G |
18: 73,675,871 (GRCm38) |
E108D |
probably damaging |
Het |
Sorbs2 |
T |
A |
8: 45,795,656 (GRCm38) |
I648K |
probably benign |
Het |
Suclg1 |
A |
T |
6: 73,263,841 (GRCm38) |
I118F |
probably damaging |
Het |
Tet2 |
A |
G |
3: 133,480,229 (GRCm38) |
I1149T |
probably benign |
Het |
Tfr2 |
T |
A |
5: 137,571,489 (GRCm38) |
Y82* |
probably null |
Het |
Tfr2 |
G |
T |
5: 137,583,489 (GRCm38) |
V613L |
probably benign |
Het |
Tg |
A |
T |
15: 66,696,161 (GRCm38) |
M1305L |
probably benign |
Het |
Tmem176a |
A |
T |
6: 48,844,105 (GRCm38) |
M170L |
probably benign |
Het |
Trim71 |
T |
C |
9: 114,513,162 (GRCm38) |
N684S |
probably benign |
Het |
Tspan9 |
A |
G |
6: 127,965,251 (GRCm38) |
I212T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,942,975 (GRCm38) |
V2361A |
possibly damaging |
Het |
Uqcrc1 |
C |
T |
9: 108,936,759 (GRCm38) |
T14M |
possibly damaging |
Het |
Vmn2r11 |
T |
C |
5: 109,053,982 (GRCm38) |
I219V |
probably benign |
Het |
Vmn2r76 |
T |
C |
7: 86,225,369 (GRCm38) |
H800R |
probably benign |
Het |
Vmn2r76 |
C |
T |
7: 86,230,166 (GRCm38) |
G309R |
probably benign |
Het |
Xpc |
A |
T |
6: 91,499,531 (GRCm38) |
C529S |
probably benign |
Het |
Zfp455 |
T |
A |
13: 67,207,624 (GRCm38) |
S254T |
possibly damaging |
Het |
Zfp746 |
T |
C |
6: 48,064,889 (GRCm38) |
H301R |
possibly damaging |
Het |
Zyg11a |
A |
T |
4: 108,192,074 (GRCm38) |
I490N |
probably damaging |
Het |
|
Other mutations in Dennd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00089:Dennd3
|
APN |
15 |
73,567,133 (GRCm38) |
missense |
probably benign |
0.26 |
IGL00579:Dennd3
|
APN |
15 |
73,540,842 (GRCm38) |
missense |
possibly damaging |
0.63 |
IGL02101:Dennd3
|
APN |
15 |
73,527,945 (GRCm38) |
missense |
possibly damaging |
0.81 |
IGL02164:Dennd3
|
APN |
15 |
73,544,448 (GRCm38) |
missense |
probably benign |
0.26 |
IGL02389:Dennd3
|
APN |
15 |
73,567,056 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02604:Dennd3
|
APN |
15 |
73,556,403 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02697:Dennd3
|
APN |
15 |
73,524,236 (GRCm38) |
missense |
possibly damaging |
0.82 |
IGL02885:Dennd3
|
APN |
15 |
73,568,696 (GRCm38) |
missense |
probably benign |
|
IGL03356:Dennd3
|
APN |
15 |
73,568,633 (GRCm38) |
missense |
probably benign |
0.19 |
IGL03388:Dennd3
|
APN |
15 |
73,544,359 (GRCm38) |
missense |
probably damaging |
0.98 |
BB006:Dennd3
|
UTSW |
15 |
73,564,574 (GRCm38) |
missense |
probably damaging |
1.00 |
BB016:Dennd3
|
UTSW |
15 |
73,564,574 (GRCm38) |
missense |
probably damaging |
1.00 |
R0118:Dennd3
|
UTSW |
15 |
73,565,076 (GRCm38) |
missense |
probably damaging |
1.00 |
R0925:Dennd3
|
UTSW |
15 |
73,533,435 (GRCm38) |
missense |
probably damaging |
1.00 |
R1076:Dennd3
|
UTSW |
15 |
73,540,733 (GRCm38) |
missense |
probably damaging |
1.00 |
R1355:Dennd3
|
UTSW |
15 |
73,540,854 (GRCm38) |
splice site |
probably benign |
|
R1370:Dennd3
|
UTSW |
15 |
73,540,854 (GRCm38) |
splice site |
probably benign |
|
R1480:Dennd3
|
UTSW |
15 |
73,532,846 (GRCm38) |
missense |
probably benign |
0.20 |
R1727:Dennd3
|
UTSW |
15 |
73,565,128 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1732:Dennd3
|
UTSW |
15 |
73,537,418 (GRCm38) |
splice site |
probably benign |
|
R1771:Dennd3
|
UTSW |
15 |
73,555,101 (GRCm38) |
missense |
possibly damaging |
0.71 |
R1776:Dennd3
|
UTSW |
15 |
73,555,101 (GRCm38) |
missense |
possibly damaging |
0.71 |
R1779:Dennd3
|
UTSW |
15 |
73,522,508 (GRCm38) |
critical splice donor site |
probably null |
|
R1838:Dennd3
|
UTSW |
15 |
73,565,100 (GRCm38) |
missense |
probably damaging |
1.00 |
R2146:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2146:Dennd3
|
UTSW |
15 |
73,523,496 (GRCm38) |
missense |
probably damaging |
1.00 |
R2147:Dennd3
|
UTSW |
15 |
73,523,487 (GRCm38) |
missense |
probably damaging |
1.00 |
R2148:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2149:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2150:Dennd3
|
UTSW |
15 |
73,555,060 (GRCm38) |
missense |
probably benign |
0.35 |
R2174:Dennd3
|
UTSW |
15 |
73,555,305 (GRCm38) |
missense |
probably damaging |
1.00 |
R2295:Dennd3
|
UTSW |
15 |
73,523,555 (GRCm38) |
critical splice donor site |
probably null |
|
R2905:Dennd3
|
UTSW |
15 |
73,557,646 (GRCm38) |
missense |
probably damaging |
1.00 |
R3106:Dennd3
|
UTSW |
15 |
73,565,124 (GRCm38) |
nonsense |
probably null |
|
R3757:Dennd3
|
UTSW |
15 |
73,522,234 (GRCm38) |
missense |
probably benign |
0.00 |
R3785:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R3786:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R3787:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R3847:Dennd3
|
UTSW |
15 |
73,542,732 (GRCm38) |
missense |
possibly damaging |
0.64 |
R4369:Dennd3
|
UTSW |
15 |
73,540,809 (GRCm38) |
missense |
probably damaging |
0.98 |
R4601:Dennd3
|
UTSW |
15 |
73,567,160 (GRCm38) |
missense |
probably damaging |
0.99 |
R4666:Dennd3
|
UTSW |
15 |
73,570,860 (GRCm38) |
missense |
probably damaging |
1.00 |
R4680:Dennd3
|
UTSW |
15 |
73,533,376 (GRCm38) |
missense |
possibly damaging |
0.82 |
R4708:Dennd3
|
UTSW |
15 |
73,523,495 (GRCm38) |
missense |
probably damaging |
1.00 |
R4789:Dennd3
|
UTSW |
15 |
73,522,282 (GRCm38) |
missense |
probably damaging |
1.00 |
R4920:Dennd3
|
UTSW |
15 |
73,540,725 (GRCm38) |
missense |
probably benign |
0.13 |
R5043:Dennd3
|
UTSW |
15 |
73,527,936 (GRCm38) |
missense |
probably benign |
0.00 |
R5074:Dennd3
|
UTSW |
15 |
73,547,295 (GRCm38) |
missense |
probably damaging |
1.00 |
R5410:Dennd3
|
UTSW |
15 |
73,547,448 (GRCm38) |
missense |
probably benign |
0.02 |
R5421:Dennd3
|
UTSW |
15 |
73,567,115 (GRCm38) |
missense |
probably benign |
|
R5560:Dennd3
|
UTSW |
15 |
73,532,895 (GRCm38) |
missense |
probably damaging |
1.00 |
R6008:Dennd3
|
UTSW |
15 |
73,567,080 (GRCm38) |
missense |
possibly damaging |
0.88 |
R6357:Dennd3
|
UTSW |
15 |
73,556,472 (GRCm38) |
missense |
possibly damaging |
0.49 |
R6563:Dennd3
|
UTSW |
15 |
73,544,380 (GRCm38) |
missense |
probably damaging |
0.98 |
R6687:Dennd3
|
UTSW |
15 |
73,556,366 (GRCm38) |
missense |
possibly damaging |
0.64 |
R6837:Dennd3
|
UTSW |
15 |
73,557,693 (GRCm38) |
missense |
probably damaging |
1.00 |
R6910:Dennd3
|
UTSW |
15 |
73,555,116 (GRCm38) |
missense |
probably benign |
0.01 |
R7125:Dennd3
|
UTSW |
15 |
73,533,291 (GRCm38) |
missense |
possibly damaging |
0.50 |
R7297:Dennd3
|
UTSW |
15 |
73,557,610 (GRCm38) |
missense |
probably damaging |
1.00 |
R7580:Dennd3
|
UTSW |
15 |
73,556,447 (GRCm38) |
missense |
possibly damaging |
0.89 |
R7653:Dennd3
|
UTSW |
15 |
73,562,426 (GRCm38) |
missense |
probably damaging |
0.99 |
R7731:Dennd3
|
UTSW |
15 |
73,562,367 (GRCm38) |
missense |
probably damaging |
0.99 |
R7767:Dennd3
|
UTSW |
15 |
73,522,230 (GRCm38) |
missense |
probably benign |
|
R7806:Dennd3
|
UTSW |
15 |
73,570,775 (GRCm38) |
missense |
possibly damaging |
0.87 |
R7860:Dennd3
|
UTSW |
15 |
73,540,808 (GRCm38) |
missense |
probably damaging |
0.97 |
R7902:Dennd3
|
UTSW |
15 |
73,568,115 (GRCm38) |
critical splice donor site |
probably benign |
|
R7929:Dennd3
|
UTSW |
15 |
73,564,574 (GRCm38) |
missense |
probably damaging |
1.00 |
R8218:Dennd3
|
UTSW |
15 |
73,512,773 (GRCm38) |
missense |
probably benign |
0.31 |
R8436:Dennd3
|
UTSW |
15 |
73,562,349 (GRCm38) |
missense |
probably damaging |
1.00 |
R8444:Dennd3
|
UTSW |
15 |
73,570,823 (GRCm38) |
missense |
probably benign |
0.09 |
R8698:Dennd3
|
UTSW |
15 |
73,522,305 (GRCm38) |
missense |
possibly damaging |
0.52 |
R8967:Dennd3
|
UTSW |
15 |
73,547,577 (GRCm38) |
missense |
possibly damaging |
0.89 |
R9147:Dennd3
|
UTSW |
15 |
73,557,614 (GRCm38) |
missense |
probably damaging |
1.00 |
R9148:Dennd3
|
UTSW |
15 |
73,557,614 (GRCm38) |
missense |
probably damaging |
1.00 |
R9194:Dennd3
|
UTSW |
15 |
73,547,304 (GRCm38) |
missense |
probably benign |
0.04 |
R9449:Dennd3
|
UTSW |
15 |
73,557,628 (GRCm38) |
missense |
probably damaging |
1.00 |
R9501:Dennd3
|
UTSW |
15 |
73,547,192 (GRCm38) |
missense |
probably benign |
0.01 |
R9616:Dennd3
|
UTSW |
15 |
73,568,714 (GRCm38) |
missense |
probably benign |
|
R9730:Dennd3
|
UTSW |
15 |
73,555,110 (GRCm38) |
missense |
probably damaging |
1.00 |
RF006:Dennd3
|
UTSW |
15 |
73,547,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGCCCATCTATGTGGACT -3'
(R):5'- AAGCCCTCAGTGCTGCCTT -3'
Sequencing Primer
(F):5'- GAGCTAATGGAGACCCTTCCTATG -3'
(R):5'- AGTGCTGCCTTCCTCCTG -3'
|
Posted On |
2019-10-17 |