Mutagenetix > Incidental Mutations

Incidental Mutation 'R0445:Dennd1b'

39298

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN/MADD domain containing 1B

Synonyms

4632404N19Rik, 6820401H01Rik, 4930467M19Rik, F730008N07Rik

MMRRC Submission

038646-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0445 (G1)

Quality Score

194

Status

Validated

Chromosome

Chromosomal Location

138963435-139178960 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 139167765 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143783 (fasta)

Gene Model

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

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

noncoding transcript
Transcript: ENSMUST00000199634

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200295

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

Meta Mutation Damage Score

0.0536

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.3%

Validation Efficiency

100% (77/77)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	A	C	17: 48,090,022		probably null	Het
4932438A13Rik	T	C	3: 37,000,065	V3111A	probably damaging	Het
A2m	C	T	6: 121,657,955	T687I	probably damaging	Het
Acsbg1	A	G	9: 54,615,895	S483P	probably damaging	Het
Adam22	T	A	5: 8,180,591		probably benign	Het
Aggf1	A	G	13: 95,354,001	V595A	possibly damaging	Het
Aplf	A	T	6: 87,663,752	L71I	probably damaging	Het
Arid3c	G	T	4: 41,725,172	P292T	probably benign	Het
Brms1l	T	A	12: 55,861,406	Y213*	probably null	Het
C87436	T	A	6: 86,449,850	S332T	possibly damaging	Het
Cad	G	A	5: 31,072,709	A1454T	probably benign	Het
Cdkn3	T	C	14: 46,767,400		probably null	Het
Cnot1	A	G	8: 95,760,208	C624R	probably damaging	Het
Cntnap5c	A	T	17: 58,104,743	I541F	probably benign	Het
Cyhr1	T	C	15: 76,648,257	H217R	probably damaging	Het
Dscam	A	T	16: 96,772,503	I753N	probably damaging	Het
Eef2	C	CN	10: 81,178,770		probably null	Het
Epg5	T	A	18: 78,014,184	V1826D	possibly damaging	Het
Epha8	T	C	4: 136,932,400	Y755C	probably damaging	Het
Esco1	A	T	18: 10,574,989	N694K	probably damaging	Het
Fermt3	T	C	19: 7,003,299	H300R	probably benign	Het
Galnt5	C	A	2: 57,998,950	F187L	probably benign	Het
Gm17067	A	G	7: 42,708,622	I152T	probably benign	Het
Gnb3	T	C	6: 124,837,255	D154G	possibly damaging	Het
Gpr155	G	A	2: 73,370,144		probably benign	Het
Hdac3	A	G	18: 37,943,724	I240T	probably damaging	Het
Ifitm1	A	T	7: 140,968,441		probably null	Het
Kif1b	A	T	4: 149,188,009	L1455Q	probably benign	Het
Krt1	A	C	15: 101,847,621	L388R	probably damaging	Het
Lrp1	T	A	10: 127,590,636	K635*	probably null	Het
Map3k2	A	G	18: 32,217,210	Y371C	probably damaging	Het
Mcu	T	C	10: 59,456,645		probably benign	Het
Mkrn1	C	T	6: 39,404,854	V167I	probably benign	Het
Mrpl9	T	A	3: 94,444,891		probably benign	Het
Naip2	T	C	13: 100,161,887	Y547C	possibly damaging	Het
Nup88	G	A	11: 70,947,729	T487I	probably benign	Het
Oas3	G	A	5: 120,756,145	R39C	probably damaging	Het
Obscn	C	T	11: 58,999,335	R7457H	unknown	Het
Olfr1383	T	A	11: 49,523,957	V78E	probably damaging	Het
Olfr272	G	A	4: 52,910,849	T315M	probably benign	Het
Paf1	T	C	7: 28,395,688	S118P	probably damaging	Het
Parp4	T	A	14: 56,602,748		probably null	Het
Pcdh15	A	T	10: 74,342,549	Y157F	probably damaging	Het
Pex10	G	A	4: 155,069,074		probably null	Het
Phrf1	C	T	7: 141,247,331		probably benign	Het
Polr3a	G	T	14: 24,454,921	D1090E	probably benign	Het
Ppfia4	A	C	1: 134,327,289	L276R	probably benign	Het
Rdh16f1	T	C	10: 127,790,867	L263S	probably benign	Het
Ryr3	T	C	2: 112,866,054	D967G	probably benign	Het
Shc1	G	T	3: 89,426,537	A226S	probably damaging	Het
Slc4a1	A	G	11: 102,354,366	V585A	probably benign	Het
Stk38l	T	A	6: 146,775,686	S461T	probably benign	Het
Tbkbp1	A	T	11: 97,149,469	S40T	probably damaging	Het
Tet1	A	G	10: 62,879,941	M25T	probably benign	Het
Themis	A	G	10: 28,782,011	R192G	probably damaging	Het
Tmem144	T	C	3: 79,825,354	T206A	probably benign	Het
Tmem74b	G	A	2: 151,706,959	R202H	probably damaging	Het
Trpm1	T	C	7: 64,244,842		probably benign	Het
Vars	A	G	17: 35,011,809	H557R	probably benign	Het
Zbtb12	C	A	17: 34,896,301	A354E	possibly damaging	Het
Zfp143	A	T	7: 110,061,117		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
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
R0497:Dennd1b	UTSW	1	139039986	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

Predicted Primers

PCR Primer
(F):5'- CCACGTAGGAGATGTGATGGACAAC -3'
(R):5'- TGGCTCACTGGACTGTTACCACTG -3'

Sequencing Primer
(F):5'- ATGTGATGGACAACTCTCGATG -3'
(R):5'- GGTGACAACCTGACCTAGTGTTC -3'

Posted On

2013-05-23