Mutagenetix > Incidental Mutations

Incidental Mutation 'R0497:Dennd1b'

40512

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN/MADD domain containing 1B

Synonyms

4632404N19Rik, 6820401H01Rik, 4930467M19Rik, F730008N07Rik

MMRRC Submission

038693-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0497 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

138963435-139178960 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 139039986 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094505] [ENSMUST00000168527] [ENSMUST00000198759] [ENSMUST00000200429] [ENSMUST00000200533]

Predicted Effect

probably benign
Transcript: ENSMUST00000094505

SMART Domains

Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268

Domain	Start	End	E-Value	Type
DENN	15	196	1.14e-74	SMART
dDENN	227	293	1.07e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000168527

SMART Domains

Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268

Domain	Start	End	E-Value	Type
uDENN	9	89	7.86e-28	SMART
DENN	90	271	1.14e-74	SMART
dDENN	302	368	1.07e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198759

Predicted Effect

probably benign
Transcript: ENSMUST00000200429

SMART Domains

Protein: ENSMUSP00000143783
Gene: ENSMUSG00000056268

Domain	Start	End	E-Value	Type
uDENN	9	89	3.2e-31	SMART
DENN	90	271	4.8e-78	SMART
low complexity region	307	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200533

SMART Domains

Protein: ENSMUSP00000142738
Gene: ENSMUSG00000056268

Domain	Start	End	E-Value	Type
uDENN	9	89	7.86e-28	SMART
DENN	90	232	4.61e-6	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous KO results in enhanced allergic responses to aerosolized antigen challenges caused by delayed TCR down-modulation following receptor activation in T helper 2 cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966		probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zfp644	A	T	5: 106,638,333	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	Het

Other mutations in Dennd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Dennd1b	APN	1	139062940	missense	probably damaging	1.00
IGL00510:Dennd1b	APN	1	139102071	missense	probably damaging	1.00
IGL00671:Dennd1b	APN	1	139133737	missense	possibly damaging	0.94
IGL00937:Dennd1b	APN	1	139170239	missense	probably benign	0.01
IGL00959:Dennd1b	APN	1	139143888	splice site	probably benign
IGL01446:Dennd1b	APN	1	139023110	missense	possibly damaging	0.61
IGL01610:Dennd1b	APN	1	139169766	utr 3 prime	probably benign
IGL02275:Dennd1b	APN	1	139081254	missense	probably damaging	1.00
IGL02851:Dennd1b	APN	1	139168967	utr 3 prime	probably benign
IGL02995:Dennd1b	APN	1	139081242	missense	probably damaging	1.00
IGL03089:Dennd1b	APN	1	139102029	missense	possibly damaging	0.94
IGL03240:Dennd1b	APN	1	139139392	missense	possibly damaging	0.63
IGL03267:Dennd1b	APN	1	139062861	nonsense	probably null
Dendrite	UTSW	1	139053417	critical splice donor site	probably null
LCD18:Dennd1b	UTSW	1	139114764	intron	probably benign
PIT4418001:Dennd1b	UTSW	1	139081261	missense
PIT4504001:Dennd1b	UTSW	1	139040004	missense	probably benign	0.28
R0426:Dennd1b	UTSW	1	139170196	missense	probably benign
R0445:Dennd1b	UTSW	1	139167765	splice site	probably benign
R0627:Dennd1b	UTSW	1	139081219	missense	probably damaging	1.00
R1027:Dennd1b	UTSW	1	139041962	missense	probably damaging	1.00
R1599:Dennd1b	UTSW	1	139167730	missense	probably benign	0.01
R1703:Dennd1b	UTSW	1	139169754	critical splice acceptor site	probably null
R1844:Dennd1b	UTSW	1	139090405	intron	probably null
R1943:Dennd1b	UTSW	1	139168952	utr 3 prime	probably benign
R2504:Dennd1b	UTSW	1	139170170	utr 3 prime	probably benign
R2866:Dennd1b	UTSW	1	139170281	missense	possibly damaging	0.58
R3109:Dennd1b	UTSW	1	139041916	splice site	probably benign
R3843:Dennd1b	UTSW	1	139053354	missense	probably damaging	1.00
R3926:Dennd1b	UTSW	1	139143959	missense	probably benign	0.00
R4258:Dennd1b	UTSW	1	139062940	missense	probably damaging	1.00
R4504:Dennd1b	UTSW	1	139085927	missense	possibly damaging	0.82
R4805:Dennd1b	UTSW	1	139053384	missense	probably damaging	1.00
R4922:Dennd1b	UTSW	1	139085914	missense	probably damaging	0.99
R4954:Dennd1b	UTSW	1	139053386	missense	probably damaging	1.00
R5098:Dennd1b	UTSW	1	139133721	missense	probably damaging	0.97
R5205:Dennd1b	UTSW	1	139054568	missense	probably benign	0.00
R5240:Dennd1b	UTSW	1	139062877	missense	probably damaging	1.00
R5383:Dennd1b	UTSW	1	139167671	missense	probably benign
R5504:Dennd1b	UTSW	1	139090508	missense	probably benign	0.07
R5702:Dennd1b	UTSW	1	139133675	missense	probably damaging	1.00
R5801:Dennd1b	UTSW	1	139039989	splice site	probably null
R6144:Dennd1b	UTSW	1	139081255	missense	probably damaging	1.00
R6190:Dennd1b	UTSW	1	139133675	missense	probably damaging	1.00
R6192:Dennd1b	UTSW	1	139167718	missense	probably benign	0.00
R6289:Dennd1b	UTSW	1	139168945	utr 3 prime	probably benign
R6453:Dennd1b	UTSW	1	139143948	missense	probably benign	0.07
R6479:Dennd1b	UTSW	1	139041960	intron	probably benign
R6940:Dennd1b	UTSW	1	139053417	critical splice donor site	probably null
R6954:Dennd1b	UTSW	1	139168945	utr 3 prime	probably benign
R7183:Dennd1b	UTSW	1	139170252	missense	unknown
R7710:Dennd1b	UTSW	1	139062932	missense	probably damaging	1.00
R7742:Dennd1b	UTSW	1	139062873	missense	probably damaging	1.00
R7796:Dennd1b	UTSW	1	139062873	missense	probably damaging	1.00
RF008:Dennd1b	UTSW	1	139053397	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCGGGCATTGTCAGTGCAATC -3'
(R):5'- AGCGAGCAGTAAAGCCCTGTTTC -3'

Sequencing Primer
(F):5'- TGTCAGTGCAATCTGCCAAAG -3'
(R):5'- CTGAAAGGCGATTTTACTGTCAGC -3'

Posted On

2013-05-23