Mutagenetix > Incidental Mutations

Incidental Mutation 'R6910:Dennd3'

538990

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN/MADD domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R6910 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73512560-73572242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73555116 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 781 (T781A)

Ref Sequence

ENSEMBL: ENSMUSP00000134002 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043414
AA Change: T781A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: T781A

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 benign
Transcript: ENSMUST00000160267

SMART Domains

Protein: ENSMUSP00000124538
Gene: ENSMUSG00000036661

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

Predicted Effect

probably benign
Transcript: ENSMUST00000173292
AA Change: T781A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: T781A

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

0.0861

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,620,447	V151A	probably damaging	Het
Cfap54	A	G	10: 92,836,512	S2899P	probably benign	Het
Chil5	A	G	3: 106,019,661	W82R	probably damaging	Het
Epha2	A	G	4: 141,321,513	D597G	probably damaging	Het
Gcn1l1	A	G	5: 115,606,538	T1598A	probably benign	Het
Glp2r	A	G	11: 67,730,671	F162S	probably benign	Het
Gm10130	A	T	2: 150,324,067	Q56L	probably benign	Het
Gm17655	T	A	5: 110,047,173	R248*	probably null	Het
Gm9268	T	C	7: 43,024,051	F178L	probably benign	Het
Gnptab	G	A	10: 88,431,396	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Hapln2	A	G	3: 88,023,828	Y127H	probably damaging	Het
Hdac4	G	T	1: 91,982,153	T463K	probably damaging	Het
Ift80	A	C	3: 68,927,735	S458A	probably benign	Het
Lama1	A	G	17: 67,791,464	D1846G	possibly damaging	Het
Map3k8	A	G	18: 4,340,801	I171T	probably benign	Het
Micu1	A	G	10: 59,740,667	E115G	probably damaging	Het
Mrpl39	A	G	16: 84,735,192	V9A	unknown	Het
Ncoa7	T	G	10: 30,694,121	I281L	possibly damaging	Het
Nms	A	G	1: 38,941,895	E54G	probably benign	Het
Nrip1	G	A	16: 76,294,417	A84V	probably damaging	Het
Olfr1331	T	A	4: 118,869,138	M119K	probably damaging	Het
Olfr743	G	A	14: 50,533,873	V154M	probably benign	Het
Pcdhga10	T	A	18: 37,748,232	S349T	probably damaging	Het
R3hcc1	G	A	14: 69,697,575	P454L	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr3	T	C	2: 112,958,175	D170G	probably damaging	Het
Scp2	C	A	4: 108,105,086	G81C	probably damaging	Het
Sez6	A	G	11: 77,953,869	T173A	possibly damaging	Het
Syne1	T	C	10: 5,048,887	H8142R	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tnfrsf11a	A	G	1: 105,844,546	T520A	probably damaging	Het
Tpm1	A	G	9: 67,031,974	S170P	probably damaging	Het
Try5	T	C	6: 41,311,799	D54G	possibly damaging	Het
Zan	T	C	5: 137,419,080	E3041G	unknown	Het
Zfp616	A	T	11: 74,085,002	H699L	probably damaging	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
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
R3847:Dennd3	UTSW	15	73542732	missense	possibly damaging	0.64
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
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
RF006:Dennd3	UTSW	15	73547592	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATCTTCTGCCCCACAGCTG -3'
(R):5'- ATGTTCCTGAAGGTGGCAATC -3'

Sequencing Primer
(F):5'- TAGTGCCTGCCTAAAGTC -3'
(R):5'- TGGCAATCTCCACATAGCCGG -3'

Posted On

2018-11-06