Mutagenetix > Incidental Mutation

Incidental Mutation 'R2905:Dennd3'

261631

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

040492-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

R2905 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73384409-73444091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73429495 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 4 (L4Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124538 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043414] [ENSMUST00000160267] [ENSMUST00000173292]

AlphaFold

A2RT67

Predicted Effect

probably damaging
Transcript: ENSMUST00000043414
AA Change: L926Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: L926Q

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: L4Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124538
Gene: ENSMUSG00000036661
AA Change: L4Q

Domain	Start	End	E-Value	Type
Blast:WD40	51	90	2e-9	BLAST

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

probably damaging
Transcript: ENSMUST00000173292
AA Change: L926Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: L926Q

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

Meta Mutation Damage Score

0.8146

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	A	4: 153,517,284 (GRCm39)	R19L	probably benign	Het
Alk	A	C	17: 72,292,489 (GRCm39)	S496R	probably benign	Het
Arhgap15	T	C	2: 43,953,798 (GRCm39)	F175L	probably damaging	Het
Col12a1	G	T	9: 79,559,307 (GRCm39)	S1860R	probably damaging	Het
Cuedc2	C	T	19: 46,321,088 (GRCm39)	V15I	probably benign	Het
Dusp8	T	A	7: 141,637,126 (GRCm39)	K234*	probably null	Het
Dzip1l	A	G	9: 99,545,722 (GRCm39)	E657G	probably damaging	Het
F7	C	T	8: 13,084,775 (GRCm39)	T267I	probably benign	Het
Gm9791	T	C	3: 34,059,336 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,624,786 (GRCm39)	S1040P	probably damaging	Het
Ift56	T	C	6: 38,378,037 (GRCm39)	V283A	possibly damaging	Het
Jtb	C	G	3: 90,139,799 (GRCm39)	P62R	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Ly6m	T	A	15: 74,751,716 (GRCm39)	Y106F	probably benign	Het
Ly75	A	G	2: 60,164,898 (GRCm39)	V760A	probably benign	Het
Nudt4	T	G	10: 95,399,571 (GRCm39)	K17Q	probably benign	Het
Or6c217	T	C	10: 129,738,269 (GRCm39)	I103M	possibly damaging	Het
Pde4a	A	T	9: 21,112,645 (GRCm39)	T274S	probably benign	Het
Pou6f1	C	T	15: 100,483,839 (GRCm39)	V220I	probably benign	Het
Relch	T	C	1: 105,619,719 (GRCm39)	V316A	probably benign	Het
Rif1	T	C	2: 51,988,516 (GRCm39)	S752P	probably damaging	Het
Ror2	A	G	13: 53,286,031 (GRCm39)	I73T	probably benign	Het
Samhd1	A	T	2: 156,965,335 (GRCm39)	F160Y	possibly damaging	Het
Tas2r118	A	G	6: 23,969,801 (GRCm39)	F87L	possibly damaging	Het
Thop1	T	C	10: 80,915,425 (GRCm39)	L295P	probably damaging	Het
Tlr12	A	G	4: 128,509,802 (GRCm39)	M816T	probably damaging	Het
Trip12	T	C	1: 84,732,064 (GRCm39)	N970S	probably benign	Het
Ttll8	A	T	15: 88,798,680 (GRCm39)	M685K	probably benign	Het
Ushbp1	G	A	8: 71,840,179 (GRCm39)	R491*	probably null	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
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'- GGACTTCCCGTAACTAGAGAAG -3'
(R):5'- CAAGAAAGCTTGGGTGGATTC -3'

Sequencing Primer
(F):5'- AAAGTCTTCATCCATTCGGACC -3'
(R):5'- GGATTCTCAGTGACAGATGCC -3'

Posted On

2015-01-23