Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Dennd3'

426592

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN/MADD domain containing 3

Synonyms

E030003N15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73512560-73572242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73567115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1111 (S1111P)

Ref Sequence

ENSEMBL: ENSMUSP00000134002 (fasta)

Gene Model

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

AlphaFold

A2RT67

Predicted Effect

probably benign
Transcript: ENSMUST00000043414
AA Change: S1111P

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

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: S1111P

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: ENSMUST00000159322

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

noncoding transcript
Transcript: ENSMUST00000160727

Predicted Effect

SMART Domains

Protein: ENSMUSP00000125657
Gene: ENSMUSG00000036661
AA Change: S987P

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: S1111P

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

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: S1111P

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,550,027	Q882L	probably damaging	Het
Afdn	T	C	17: 13,832,406	V525A	probably benign	Het
AI987944	T	C	7: 41,374,776	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,527,407	S31G	probably damaging	Het
Asxl1	T	C	2: 153,399,584	S685P	probably benign	Het
BC005561	A	T	5: 104,518,395	N261I	probably benign	Het
Blnk	C	A	19: 40,968,523	V47F	probably damaging	Het
Bmp4	T	A	14: 46,385,898	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,870,418	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,522,790	P645L	probably benign	Het
Cadm2	A	T	16: 66,771,627	C248*	probably null	Het
Cd163l1	T	C	7: 140,223,900	L337P	probably damaging	Het
Cdk6	T	C	5: 3,473,120	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580	R454S	probably damaging	Het
Dmxl1	T	C	18: 49,863,119		probably null	Het
Dnah2	G	A	11: 69,435,636	T3613I	probably damaging	Het
Elp6	A	G	9: 110,314,064	Q115R	probably benign	Het
Enpp1	A	G	10: 24,669,757	Y262H	probably damaging	Het
Far2	A	G	6: 148,146,192		probably null	Het
Flnb	C	T	14: 7,926,494	T1846I	probably damaging	Het
Folr2	C	T	7: 101,840,644	R139H	probably benign	Het
Fxn	A	T	19: 24,277,285		probably null	Het
Galnt13	A	C	2: 54,857,896	N263T	probably damaging	Het
Gje1	G	A	10: 14,716,684	S118L	probably damaging	Het
Htr5a	G	T	5: 27,850,987	W325C	possibly damaging	Het
Itga4	T	A	2: 79,316,041	Y772*	probably null	Het
Kif12	T	C	4: 63,171,428	S59G	probably benign	Het
Kifc3	C	T	8: 95,109,845	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,598,443	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,634,359		probably null	Het
Nek1	A	C	8: 61,006,677	R6S	possibly damaging	Het
Olfr142	G	A	2: 90,252,745	T81I	probably benign	Het
Olfr421-ps1	C	T	1: 174,152,295	R260*	probably null	Het
Olfr493	G	C	7: 108,346,975	A2G	probably benign	Het
Palld	C	T	8: 61,516,550	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 20,956,706	Y169N	probably benign	Het
Rad50	T	C	11: 53,674,946	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,459,367	K915*	probably null	Het
Rasal2	T	C	1: 157,299,141	K109R	probably benign	Het
Rc3h1	G	A	1: 160,951,830		probably null	Het
Rnf6	C	T	5: 146,210,529	V560I	probably benign	Het
Samd8	A	G	14: 21,792,495	D295G	probably damaging	Het
Serpinb2	T	C	1: 107,523,851	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Slc28a3	A	T	13: 58,574,265	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,224,197	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,374,358	T52S	possibly damaging	Het
Spta1	A	G	1: 174,215,529	N1414D	probably damaging	Het
Sptbn5	A	G	2: 120,080,780		noncoding transcript	Het
Syt9	T	C	7: 107,425,356	V152A	probably benign	Het
Tln1	G	A	4: 43,533,609	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409	M40I	possibly damaging	Het
Ucp1	G	A	8: 83,290,691	A37T	probably benign	Het
Vapa	A	G	17: 65,595,036	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,583,620	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,286,535	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,446,936	T604A	probably benign	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnk1	A	G	6: 119,952,818	V1246A	probably damaging	Het
Wwc1	T	G	11: 35,876,063	D455A	possibly damaging	Het
Wwc1	C	T	11: 35,910,296	E105K	possibly damaging	Het
Zfp426	G	A	9: 20,470,719	A309V	probably damaging	Het
Zfp626	T	A	7: 27,817,910	N105K	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
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'- GTGAATGGTGCCTTTCTTACCC -3'
(R):5'- ATGGCAGCCATCTATACACCAG -3'

Sequencing Primer
(F):5'- CCCCCAAGGTTAGATGTGAG -3'
(R):5'- ACGAGCCAAGCTACTGGGAC -3'

Posted On

2016-09-01