Mutagenetix > Incidental Mutation

Incidental Mutation 'R9194:Dennd3'

697875

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: 0.169) question?

Stock #

R9194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73512560-73572242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73547304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 648 (L648P)

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: L648P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: L648P

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: L648P

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: L648P

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: 99.7%
20x: 99.0%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,259,088	M1K	probably null	Het
Adra1b	A	T	11: 43,835,436	V218D	probably damaging	Het
Ank1	A	G	8: 23,116,239	S1216G	possibly damaging	Het
Celsr1	G	T	15: 86,033,085	S229*	probably null	Het
Cfap44	G	T	16: 44,468,461	D1525Y	probably damaging	Het
Chd8	A	T	14: 52,202,193	M2341K	probably benign	Het
Chst11	A	G	10: 83,191,485	T249A	probably damaging	Het
Cttnbp2	A	G	6: 18,434,851	V336A	probably benign	Het
Dgcr14	A	T	16: 17,910,164	D79E	probably damaging	Het
Dhx16	T	C	17: 35,889,281	V864A	probably benign	Het
Enpp3	G	A	10: 24,799,194	H362Y	possibly damaging	Het
Fam83c	T	A	2: 155,829,379	Y712F	probably damaging	Het
Helz	C	T	11: 107,670,287	Q1392*	probably null	Het
Il18rap	C	T	1: 40,543,017	T366M	probably benign	Het
Iqch	T	C	9: 63,572,679	H143R	probably benign	Het
Itgb5	A	G	16: 33,900,511	D315G	probably damaging	Het
Kcnmb2	A	G	3: 32,182,025	K141R	probably benign	Het
Lrrc37a	G	A	11: 103,500,850	P1250S	probably benign	Het
Mcm5	T	G	8: 75,110,334	V110G	probably damaging	Het
Med27	G	A	2: 29,471,300	D163N	probably damaging	Het
Mms22l	C	A	4: 24,600,185	Y1129*	probably null	Het
Mov10l1	G	A	15: 89,046,820	R1081H	probably damaging	Het
Mtpap	C	G	18: 4,380,833	N170K	probably benign	Het
Mtpap	C	T	18: 4,380,834	Q171*	probably null	Het
Myo6	T	A	9: 80,246,554	F271I	unknown	Het
Ndst4	C	T	3: 125,724,736	S354L	probably benign	Het
Nfatc1	C	T	18: 80,708,043	A26T	probably benign	Het
Olfr867	C	A	9: 20,055,247	C72F	probably damaging	Het
Piezo2	G	C	18: 63,117,744	T428S	probably benign	Het
Prkch	A	G	12: 73,721,842	E462G	probably damaging	Het
Rbm20	A	G	19: 53,834,700	Y576C	probably damaging	Het
Riok3	TTTCATT	TTT	18: 12,149,585		probably null	Het
Rpp40	C	T	13: 35,896,915	D302N	probably benign	Het
Sash1	A	G	10: 8,740,205	V631A	probably damaging	Het
Sstr2	A	G	11: 113,624,377	T41A	probably benign	Het
Thsd7b	T	A	1: 129,915,634	V861E	possibly damaging	Het
Tomm70a	A	G	16: 57,152,707	K603E	possibly damaging	Het
Tpd52l2	T	A	2: 181,499,890	M22K	possibly damaging	Het
Tpst1	T	A	5: 130,102,019	L110Q	possibly damaging	Het
Tram1l1	A	G	3: 124,321,488	Y99C	possibly damaging	Het
Ttc39b	A	G	4: 83,263,740	F81L	possibly damaging	Het
Ubr1	A	G	2: 120,947,844	Y238H	probably damaging	Het
Vmn1r202	G	T	13: 22,502,146	H34N	possibly damaging	Het
Vmn1r36	G	A	6: 66,716,052	Q280*	probably null	Het
Xpnpep1	A	T	19: 53,011,858	V187E	possibly damaging	Het
Zfp592	A	G	7: 81,024,601	I438V	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
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
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
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'- CAGGACCATGCTAATTACATGC -3'
(R):5'- AAGACCTCTGTGATGAGCCG -3'

Sequencing Primer
(F):5'- TAGTTCTCAAAGTGACCCCTAAGTC -3'
(R):5'- TCTGTGATGAGCCGCCTGAG -3'

Posted On

2022-02-07