Mutagenetix > Incidental Mutation

Incidental Mutation 'R7767:Dennd3'

598337

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN/MADD domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R7767 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

73512560-73572242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73522230 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 35 (I35V)

Ref Sequence

ENSEMBL: ENSMUSP00000046774 (fasta)

Gene Model

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

AlphaFold

A2RT67

Predicted Effect

probably benign
Transcript: ENSMUST00000043414
AA Change: I35V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: I35V

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: ENSMUST00000173292
AA Change: I35V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: I35V

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	T	3: 36,920,287		probably null	Het
Aox4	C	A	1: 58,235,207	S384Y	probably damaging	Het
Arhgef15	T	C	11: 68,953,847	E308G	probably damaging	Het
Asb15	A	G	6: 24,559,282	D142G	probably benign	Het
Atg13	A	G	2: 91,679,366	S394P	probably damaging	Het
Atp10a	G	C	7: 58,658,849	W132S	probably damaging	Het
BC003331	A	G	1: 150,372,037	V387A	probably benign	Het
Bod1l	T	A	5: 41,816,756	N2405I	probably benign	Het
Capsl	C	T	15: 9,462,684	R137C	probably damaging	Het
Cd109	T	A	9: 78,710,159	M1313K	probably damaging	Het
Chst13	G	A	6: 90,309,584	A132V	possibly damaging	Het
Cobl	T	C	11: 12,412,117		probably benign	Het
Coq9	A	T	8: 94,850,586	E193V	probably benign	Het
Cpd	T	A	11: 76,813,559	I410F	probably benign	Het
Cyth3	T	G	5: 143,707,474	V351G	probably damaging	Het
Dcdc2c	T	C	12: 28,470,257	K607E		Het
Dcp1a	T	C	14: 30,479,818		probably null	Het
Dlgap4	C	T	2: 156,746,053	R606W	probably damaging	Het
Dnhd1	A	G	7: 105,694,610	I1720M	probably benign	Het
Erbin	A	G	13: 103,859,399	L265P	probably damaging	Het
Ern1	T	C	11: 106,400,308	D847G	probably damaging	Het
Esyt3	T	G	9: 99,324,971	S342R	probably benign	Het
Exoc2	A	T	13: 30,876,769	I584K	probably benign	Het
Fam240a	T	C	9: 110,915,022	R50G	probably damaging	Het
Glis3	A	T	19: 28,263,960	M858K	probably benign	Het
Gls2	C	T	10: 128,195,129	R86C	unknown	Het
Gm10972	C	A	3: 94,643,594	Y25*	probably null	Het
H2-T10	A	T	17: 36,117,730	M350K	probably benign	Het
Has1	A	T	17: 17,850,530	V43D	probably damaging	Het
Herc2	T	A	7: 56,228,527	S4609R	probably benign	Het
Hmgcs2	A	C	3: 98,291,266	T162P	probably damaging	Het
Hspg2	G	T	4: 137,511,866	C368F	probably damaging	Het
Ighv11-1	A	G	12: 113,982,102	S44P	probably damaging	Het
Inppl1	A	G	7: 101,824,338	V1035A	probably benign	Het
Kmt2a	C	T	9: 44,818,998	V3341I	unknown	Het
Lrp1b	T	C	2: 40,801,505	N3434S		Het
Lrriq1	G	C	10: 103,215,954	S312R	probably damaging	Het
Map1a	G	A	2: 121,302,036	S1111N	probably damaging	Het
Myo15	T	C	11: 60,502,096	V1029A		Het
Nol11	T	C	11: 107,179,082	H314R	possibly damaging	Het
Nphs1	A	T	7: 30,463,308	D404V	probably damaging	Het
Olfr550	A	T	7: 102,571,764		probably benign	Het
Pabpc2	T	C	18: 39,774,554	Y291H	possibly damaging	Het
Pcdh15	G	A	10: 74,486,256	A1020T	probably benign	Het
Pla2g4f	A	C	2: 120,305,009	S395A	possibly damaging	Het
Ppp1r18	A	G	17: 35,867,284	Q17R	probably damaging	Het
Prokr2	A	T	2: 132,374,076	V155D	probably damaging	Het
Pwwp2a	T	G	11: 43,705,869	C620W	probably damaging	Het
Rabepk	T	C	2: 34,785,593	D175G	probably damaging	Het
Rad54l	T	C	4: 116,099,669	Y485C	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rgma	C	A	7: 73,418,004	L446I	unknown	Het
Rnf212b	T	C	14: 54,842,368	S182P	probably damaging	Het
Rnf6	C	A	5: 146,211,176	R344I	probably damaging	Het
Rnf6	T	A	5: 146,211,177	R344*	probably null	Het
Sgo1	A	G	17: 53,679,611	I184T	possibly damaging	Het
Sgpl1	A	T	10: 61,117,723	I78N	possibly damaging	Het
Snx13	T	A	12: 35,107,484	Y510N	probably damaging	Het
Sptbn2	G	A	19: 4,734,143	E638K	possibly damaging	Het
Sspo	A	G	6: 48,451,382	T349A	probably damaging	Het
Sv2c	C	T	13: 95,989,715	S343N	probably damaging	Het
Syne1	C	A	10: 5,333,560	V1502F	possibly damaging	Het
Syne1	T	A	10: 5,333,632	I1478F	possibly damaging	Het
Tmem121	C	T	12: 113,188,372	A70V	probably damaging	Het
Tmem215	A	G	4: 40,474,042	I40V	possibly damaging	Het
Trim25	A	G	11: 89,009,117		probably null	Het
Trio	A	G	15: 27,889,418	V534A	unknown	Het
Tyr	T	A	7: 87,493,010	E114V	probably benign	Het
Ush2a	A	T	1: 188,553,260	T1998S	probably benign	Het
Usp40	G	T	1: 87,982,178	A518E	probably benign	Het
Usp48	T	A	4: 137,604,645		probably null	Het
Vash1	T	A	12: 86,686,993	F152L	probably damaging	Het
Vsig10l	C	A	7: 43,463,717	P31Q	probably damaging	Het
Xab2	C	T	8: 3,619,018	E43K	probably benign	Het
Zfp423	G	A	8: 87,780,884	S944F	probably damaging	Het
Zp2	A	T	7: 120,137,169	D350E	probably benign	Het
Zscan4e	T	G	7: 11,307,534	Q165P	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
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
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
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
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'- GCCTTTAGCTCTGTTCACATGTATG -3'
(R):5'- TGACATCTTCAGAATCGGGC -3'

Sequencing Primer
(F):5'- CGTGTACATGCGCACATATG -3'
(R):5'- TTCAGAATCGGGCCCCTTG -3'

Posted On

2019-11-26