Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Dennd3'

277452

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN/MADD domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

040895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73512560-73572242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73542732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 457 (N457K)

Ref Sequence

ENSEMBL: ENSMUSP00000046774 (fasta)

Gene Model

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

AlphaFold

A2RT67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043414
AA Change: N457K

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: N457K

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: N457K

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: N457K

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

0.2258

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc12	C	T	8: 86,553,391	E338K	probably benign	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		probably benign	Het

Other mutations in Dennd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd3	APN	15	73567133	missense	probably benign	0.26
IGL00579:Dennd3	APN	15	73540842	missense	possibly damaging	0.63
IGL02101:Dennd3	APN	15	73527945	missense	possibly damaging	0.81
IGL02164:Dennd3	APN	15	73544448	missense	probably benign	0.26
IGL02389:Dennd3	APN	15	73567056	missense	probably damaging	1.00
IGL02604:Dennd3	APN	15	73556403	missense	probably damaging	1.00
IGL02697:Dennd3	APN	15	73524236	missense	possibly damaging	0.82
IGL02885:Dennd3	APN	15	73568696	missense	probably benign
IGL03356:Dennd3	APN	15	73568633	missense	probably benign	0.19
IGL03388:Dennd3	APN	15	73544359	missense	probably damaging	0.98
BB006:Dennd3	UTSW	15	73564574	missense	probably damaging	1.00
BB016:Dennd3	UTSW	15	73564574	missense	probably damaging	1.00
R0118:Dennd3	UTSW	15	73565076	missense	probably damaging	1.00
R0925:Dennd3	UTSW	15	73533435	missense	probably damaging	1.00
R1076:Dennd3	UTSW	15	73540733	missense	probably damaging	1.00
R1355:Dennd3	UTSW	15	73540854	splice site	probably benign
R1370:Dennd3	UTSW	15	73540854	splice site	probably benign
R1480:Dennd3	UTSW	15	73532846	missense	probably benign	0.20
R1727:Dennd3	UTSW	15	73565128	missense	possibly damaging	0.95
R1732:Dennd3	UTSW	15	73537418	splice site	probably benign
R1771:Dennd3	UTSW	15	73555101	missense	possibly damaging	0.71
R1776:Dennd3	UTSW	15	73555101	missense	possibly damaging	0.71
R1779:Dennd3	UTSW	15	73522508	critical splice donor site	probably null
R1838:Dennd3	UTSW	15	73565100	missense	probably damaging	1.00
R2146:Dennd3	UTSW	15	73523496	missense	probably damaging	1.00
R2146:Dennd3	UTSW	15	73555060	missense	probably benign	0.35
R2147:Dennd3	UTSW	15	73523487	missense	probably damaging	1.00
R2148:Dennd3	UTSW	15	73555060	missense	probably benign	0.35
R2149:Dennd3	UTSW	15	73555060	missense	probably benign	0.35
R2150:Dennd3	UTSW	15	73555060	missense	probably benign	0.35
R2174:Dennd3	UTSW	15	73555305	missense	probably damaging	1.00
R2295:Dennd3	UTSW	15	73523555	critical splice donor site	probably null
R2905:Dennd3	UTSW	15	73557646	missense	probably damaging	1.00
R3106:Dennd3	UTSW	15	73565124	nonsense	probably null
R3757:Dennd3	UTSW	15	73522234	missense	probably benign	0.00
R3785:Dennd3	UTSW	15	73547577	missense	possibly damaging	0.89
R3786:Dennd3	UTSW	15	73547577	missense	possibly damaging	0.89
R3787:Dennd3	UTSW	15	73547577	missense	possibly damaging	0.89
R4369:Dennd3	UTSW	15	73540809	missense	probably damaging	0.98
R4601:Dennd3	UTSW	15	73567160	missense	probably damaging	0.99
R4666:Dennd3	UTSW	15	73570860	missense	probably damaging	1.00
R4680:Dennd3	UTSW	15	73533376	missense	possibly damaging	0.82
R4708:Dennd3	UTSW	15	73523495	missense	probably damaging	1.00
R4789:Dennd3	UTSW	15	73522282	missense	probably damaging	1.00
R4920:Dennd3	UTSW	15	73540725	missense	probably benign	0.13
R5043:Dennd3	UTSW	15	73527936	missense	probably benign	0.00
R5074:Dennd3	UTSW	15	73547295	missense	probably damaging	1.00
R5410:Dennd3	UTSW	15	73547448	missense	probably benign	0.02
R5421:Dennd3	UTSW	15	73567115	missense	probably benign
R5560:Dennd3	UTSW	15	73532895	missense	probably damaging	1.00
R6008:Dennd3	UTSW	15	73567080	missense	possibly damaging	0.88
R6357:Dennd3	UTSW	15	73556472	missense	possibly damaging	0.49
R6563:Dennd3	UTSW	15	73544380	missense	probably damaging	0.98
R6687:Dennd3	UTSW	15	73556366	missense	possibly damaging	0.64
R6837:Dennd3	UTSW	15	73557693	missense	probably damaging	1.00
R6910:Dennd3	UTSW	15	73555116	missense	probably benign	0.01
R7125:Dennd3	UTSW	15	73533291	missense	possibly damaging	0.50
R7297:Dennd3	UTSW	15	73557610	missense	probably damaging	1.00
R7524:Dennd3	UTSW	15	73524246	nonsense	probably null
R7580:Dennd3	UTSW	15	73556447	missense	possibly damaging	0.89
R7653:Dennd3	UTSW	15	73562426	missense	probably damaging	0.99
R7731:Dennd3	UTSW	15	73562367	missense	probably damaging	0.99
R7767:Dennd3	UTSW	15	73522230	missense	probably benign
R7806:Dennd3	UTSW	15	73570775	missense	possibly damaging	0.87
R7860:Dennd3	UTSW	15	73540808	missense	probably damaging	0.97
R7902:Dennd3	UTSW	15	73568115	critical splice donor site	probably benign
R7929:Dennd3	UTSW	15	73564574	missense	probably damaging	1.00
R8218:Dennd3	UTSW	15	73512773	missense	probably benign	0.31
R8436:Dennd3	UTSW	15	73562349	missense	probably damaging	1.00
R8444:Dennd3	UTSW	15	73570823	missense	probably benign	0.09
R8698:Dennd3	UTSW	15	73522305	missense	possibly damaging	0.52
R8967:Dennd3	UTSW	15	73547577	missense	possibly damaging	0.89
R9147:Dennd3	UTSW	15	73557614	missense	probably damaging	1.00
R9148:Dennd3	UTSW	15	73557614	missense	probably damaging	1.00
R9194:Dennd3	UTSW	15	73547304	missense	probably benign	0.04
R9449:Dennd3	UTSW	15	73557628	missense	probably damaging	1.00
R9501:Dennd3	UTSW	15	73547192	missense	probably benign	0.01
R9616:Dennd3	UTSW	15	73568714	missense	probably benign
R9730:Dennd3	UTSW	15	73555110	missense	probably damaging	1.00
RF006:Dennd3	UTSW	15	73547592	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGGCATAAAGAGCTGAGGTCC -3'
(R):5'- ACATGATTAGATCTGGAAAGGCC -3'

Sequencing Primer
(F):5'- CCAGCTTCTTCCTGGTTAGAGAAG -3'
(R):5'- GCCTTTGAGAAACGGTTCAAC -3'

Posted On

2015-04-06