Mutagenetix > Incidental Mutation

Incidental Mutation 'R4920:Dennd3'

378530

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

042522-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R4920 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

73384409-73444091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73412574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 412 (H412R)

Ref Sequence

ENSEMBL: ENSMUSP00000134002 (fasta)

Gene Model

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

AlphaFold

A2RT67

Predicted Effect

probably benign
Transcript: ENSMUST00000043414
AA Change: H412R

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: H412R

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

probably benign
Transcript: ENSMUST00000173292
AA Change: H412R

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: H412R

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

0.0939

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	T	11: 114,089,871 (GRCm39)		noncoding transcript	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Apbb1ip	A	G	2: 22,709,696 (GRCm39)	D51G	unknown	Het
Bmal1	A	G	7: 112,884,321 (GRCm39)	T120A	probably damaging	Het
Brca1	A	T	11: 101,415,785 (GRCm39)	V783D	probably damaging	Het
Ccdc141	T	C	2: 76,998,907 (GRCm39)	D58G	probably damaging	Het
Ccr9	G	T	9: 123,608,504 (GRCm39)	G62V	probably damaging	Het
Ces2b	T	C	8: 105,563,538 (GRCm39)	Y422H	probably benign	Het
Cpa4	T	C	6: 30,568,462 (GRCm39)		probably null	Het
Dpy19l3	A	T	7: 35,407,467 (GRCm39)		probably benign	Het
Dtwd2	G	T	18: 49,831,507 (GRCm39)	R167S	possibly damaging	Het
Dync1i2	G	A	2: 71,077,668 (GRCm39)	R243Q	probably damaging	Het
Ear2	G	A	14: 44,340,582 (GRCm39)	G80E	probably damaging	Het
Fam171b	A	G	2: 83,710,703 (GRCm39)	K792E	possibly damaging	Het
Fam83b	G	A	9: 76,399,150 (GRCm39)	T651I	probably benign	Het
Fcrl5	T	G	3: 87,351,480 (GRCm39)	F243V	probably damaging	Het
Galntl6	T	C	8: 58,880,807 (GRCm39)	I115M	probably damaging	Het
Glrx3	A	G	7: 137,065,859 (GRCm39)	D163G	probably null	Het
Gm14488	A	T	2: 30,605,044 (GRCm39)		noncoding transcript	Het
Gm973	T	C	1: 59,666,725 (GRCm39)	S683P	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Gsdmd	T	C	15: 75,736,206 (GRCm39)	S112P	probably damaging	Het
Ighv14-3	A	G	12: 114,023,877 (GRCm39)	V6A	probably benign	Het
Lca5l	T	A	16: 95,980,035 (GRCm39)	S32C	probably damaging	Het
Lrba	T	A	3: 86,571,765 (GRCm39)	Y260*	probably null	Het
Lyst	T	C	13: 13,821,645 (GRCm39)	S1340P	possibly damaging	Het
Mfsd13a	T	G	19: 46,355,655 (GRCm39)	F59V	probably damaging	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Noa1	T	C	5: 77,454,334 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Pgm1	C	T	4: 99,843,930 (GRCm39)	T571M	probably damaging	Het
Pramel23	T	C	4: 143,425,853 (GRCm39)	D30G	probably benign	Het
Rfc1	C	A	5: 65,445,271 (GRCm39)	V460F	probably damaging	Het
Rrn3	A	G	16: 13,608,503 (GRCm39)	D182G	probably benign	Het
Sap25	T	A	5: 137,640,507 (GRCm39)		probably benign	Het
Slc9a2	A	G	1: 40,794,878 (GRCm39)	I480V	probably benign	Het
Smo	T	C	6: 29,759,593 (GRCm39)	S642P	probably damaging	Het
Tbc1d22a	A	C	15: 86,195,949 (GRCm39)	I307L	probably benign	Het
Tent2	G	A	13: 93,322,833 (GRCm39)	Q39*	probably null	Het
Ubr3	A	G	2: 69,783,212 (GRCm39)	Q716R	probably benign	Het
Vmn2r96	A	G	17: 18,802,918 (GRCm39)	E276G	probably benign	Het
Zfp189	G	A	4: 49,529,302 (GRCm39)	C135Y	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
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'- CTGATTGGGTCTGAAGCGAG -3'
(R):5'- CTGCTGCACTTGTCATGAGG -3'

Sequencing Primer
(F):5'- AGCGAGGCCTTCATGTGGTAAC -3'
(R):5'- CTGCACTTGTCATGAGGAAAGGC -3'

Posted On

2016-04-15