Mutagenetix > Incidental Mutation

Incidental Mutation 'R1844:Dennd1b'

265978

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN domain containing 1B

Synonyms

F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik

MMRRC Submission

039869-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1844 (G1)

Quality Score

202

Status

Not validated

Chromosome

Chromosomal Location

138891447-139103781 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 139018143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127580 (fasta)

Gene Model

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

AlphaFold

Q3U1T9

Predicted Effect

probably null
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 null
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: ENSMUST00000193968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198418

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.1%

Validation Efficiency

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	A	G	4: 40,197,566 (GRCm39)	K857E	probably benign	Het
Adam20	A	G	8: 41,249,080 (GRCm39)	N397D	probably benign	Het
Adgrf3	T	G	5: 30,404,211 (GRCm39)	D347A	probably damaging	Het
Ang6	C	T	14: 44,239,330 (GRCm39)	E133K	possibly damaging	Het
Arhgap23	T	A	11: 97,354,234 (GRCm39)	W205R	probably damaging	Het
Arhgef40	C	A	14: 52,235,080 (GRCm39)	R1086S	probably damaging	Het
Atr	G	T	9: 95,787,870 (GRCm39)	A1488S	probably benign	Het
Cabin1	A	T	10: 75,579,184 (GRCm39)		probably null	Het
Cby2	C	T	14: 75,820,850 (GRCm39)	V292I	probably benign	Het
Cdh22	A	C	2: 164,985,614 (GRCm39)	F324C	probably damaging	Het
Cep350	T	C	1: 155,724,374 (GRCm39)	I3075V	probably damaging	Het
Chd9	A	T	8: 91,683,323 (GRCm39)	K588*	probably null	Het
Clns1a	A	T	7: 97,346,066 (GRCm39)	I44F	probably damaging	Het
Colgalt1	T	C	8: 72,063,995 (GRCm39)	I51T	possibly damaging	Het
Cpt2	C	T	4: 107,761,452 (GRCm39)	E217K	possibly damaging	Het
Ctss	A	G	3: 95,454,105 (GRCm39)		probably null	Het
Cyp1a1	A	G	9: 57,609,980 (GRCm39)	T465A	probably benign	Het
Dbn1	A	G	13: 55,629,160 (GRCm39)		probably null	Het
Dnajc1	A	C	2: 18,298,838 (GRCm39)	Y49*	probably null	Het
Dock10	T	A	1: 80,520,918 (GRCm39)	I1188L	probably damaging	Het
Dsg1c	T	G	18: 20,416,096 (GRCm39)		probably null	Het
Efcab6	G	A	15: 83,851,822 (GRCm39)	T352I	possibly damaging	Het
Eps8l3	T	C	3: 107,786,902 (GRCm39)	L26P	possibly damaging	Het
Fbxw26	A	G	9: 109,553,946 (GRCm39)	V231A	probably benign	Het
Fetub	G	A	16: 22,754,419 (GRCm39)	E209K	possibly damaging	Het
Galc	A	T	12: 98,212,556 (GRCm39)		probably null	Het
Gm6871	A	T	7: 41,222,892 (GRCm39)	N65K	probably benign	Het
Gstp3	A	G	19: 4,107,540 (GRCm39)	I208T	probably benign	Het
Gtpbp3	A	G	8: 71,945,272 (GRCm39)	Y448C	probably benign	Het
Hdac7	G	T	15: 97,705,857 (GRCm39)	Q385K	probably damaging	Het
Hemgn	C	T	4: 46,396,655 (GRCm39)	V194M	possibly damaging	Het
Idh2	G	C	7: 79,748,625 (GRCm39)	T113R	probably benign	Het
Jarid2	A	C	13: 45,056,219 (GRCm39)	K336T	possibly damaging	Het
Kcnj4	C	T	15: 79,369,216 (GRCm39)	V255M	probably damaging	Het
Ldhb	C	A	6: 142,439,934 (GRCm39)	W202L	probably damaging	Het
Lmbrd2	T	A	15: 9,177,838 (GRCm39)	Y512*	probably null	Het
Lrp1	A	G	10: 127,431,152 (GRCm39)		probably null	Het
Map3k12	G	A	15: 102,411,970 (GRCm39)	P365S	probably damaging	Het
Map3k5	G	A	10: 19,979,909 (GRCm39)	D806N	probably benign	Het
Matn3	A	G	12: 9,017,662 (GRCm39)	E438G	possibly damaging	Het
Mcmbp	G	A	7: 128,325,698 (GRCm39)	L97F	probably damaging	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Mphosph8	T	C	14: 56,934,616 (GRCm39)	V855A	probably damaging	Het
Mycbp2	T	A	14: 103,393,150 (GRCm39)	H3027L	possibly damaging	Het
Nbea	C	T	3: 55,989,857 (GRCm39)	R333H	probably damaging	Het
Notch1	G	T	2: 26,350,446 (GRCm39)	H2231Q	probably benign	Het
Npas2	A	T	1: 39,364,456 (GRCm39)	H266L	probably damaging	Het
Oas3	A	G	5: 120,898,045 (GRCm39)	S833P	probably damaging	Het
Or1j15	T	C	2: 36,458,789 (GRCm39)	Y60H	probably damaging	Het
Or5ak24	T	C	2: 85,260,265 (GRCm39)	T303A	probably benign	Het
Or5w17	A	C	2: 87,584,334 (GRCm39)	M1R	probably null	Het
Or6c65	G	A	10: 129,603,725 (GRCm39)	R120H	probably benign	Het
Pak4	C	T	7: 28,264,690 (GRCm39)	V71I	possibly damaging	Het
Pitpnm1	T	C	19: 4,162,395 (GRCm39)	V1075A	probably damaging	Het
Pkp3	G	A	7: 140,668,415 (GRCm39)	V555M	probably damaging	Het
Plekhm2	T	C	4: 141,359,685 (GRCm39)	T381A	probably benign	Het
Plppr3	A	G	10: 79,702,244 (GRCm39)		probably null	Het
Ppp2r5e	A	T	12: 75,516,540 (GRCm39)	F216I	possibly damaging	Het
Ppp3ca	T	A	3: 136,627,672 (GRCm39)	V412D	probably benign	Het
Prss50	A	G	9: 110,687,081 (GRCm39)		probably benign	Het
Psph	A	C	5: 129,843,532 (GRCm39)	I174R	probably damaging	Het
Ptov1	A	G	7: 44,514,991 (GRCm39)	Y207H	possibly damaging	Het
Ptprs	A	G	17: 56,741,510 (GRCm39)	S585P	probably damaging	Het
Rnf146	A	T	10: 29,223,720 (GRCm39)	H55Q	probably damaging	Het
Rnf213	T	A	11: 119,332,009 (GRCm39)	M2407K	probably damaging	Het
Rnls	A	C	19: 33,179,931 (GRCm39)	L55R	possibly damaging	Het
Rptor	T	C	11: 119,647,146 (GRCm39)	C246R	probably damaging	Het
Rrp12	C	T	19: 41,866,222 (GRCm39)		probably null	Het
Samd3	A	G	10: 26,127,672 (GRCm39)	D223G	probably damaging	Het
Sdad1	G	A	5: 92,453,155 (GRCm39)	Q68*	probably null	Het
Selenov	G	A	7: 27,989,847 (GRCm39)	T219M	probably damaging	Het
Shd	A	G	17: 56,278,554 (GRCm39)	D39G	possibly damaging	Het
Slc26a10	A	T	10: 127,014,279 (GRCm39)	V245E	probably damaging	Het
Slit1	A	G	19: 41,614,012 (GRCm39)	L820P	probably damaging	Het
Snap23	T	C	2: 120,421,163 (GRCm39)	F96L	probably benign	Het
Speer1k	T	C	5: 10,998,994 (GRCm39)		probably benign	Het
Spef1l	A	T	7: 139,556,005 (GRCm39)	I212N	probably benign	Het
Stkld1	A	G	2: 26,840,115 (GRCm39)	H395R	probably damaging	Het
Syt13	G	A	2: 92,771,165 (GRCm39)	G84D	probably damaging	Het
Terb2	T	A	2: 122,016,990 (GRCm39)	L37Q	probably damaging	Het
Themis	A	G	10: 28,657,753 (GRCm39)	Y107C	probably damaging	Het
Top2a	T	A	11: 98,906,895 (GRCm39)	T249S	probably benign	Het
Tspo2	A	T	17: 48,756,148 (GRCm39)	F71Y	probably damaging	Het
Ttc21b	T	A	2: 66,053,921 (GRCm39)	K753*	probably null	Het
Ttk	A	G	9: 83,736,915 (GRCm39)	Y458C	possibly damaging	Het
Ttn	T	C	2: 76,586,017 (GRCm39)	R21905G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,254 (GRCm39)	F88I	probably benign	Het
Vmn1r119	A	G	7: 20,746,121 (GRCm39)	L87P	probably damaging	Het
Vmn1r36	A	G	6: 66,693,747 (GRCm39)	F6L	probably benign	Het
Vmn2r15	T	A	5: 109,434,860 (GRCm39)	K615*	probably null	Het
Wdr18	G	A	10: 79,802,561 (GRCm39)		probably null	Het
Wdr6	A	T	9: 108,453,176 (GRCm39)	W236R	probably damaging	Het
Zbtb48	T	C	4: 152,110,955 (GRCm39)	T187A	probably benign	Het

Other mutations in Dennd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Dennd1b	APN	1	138,990,678 (GRCm39)	missense	probably damaging	1.00
IGL00510:Dennd1b	APN	1	139,029,809 (GRCm39)	missense	probably damaging	1.00
IGL00671:Dennd1b	APN	1	139,061,475 (GRCm39)	missense	possibly damaging	0.94
IGL00937:Dennd1b	APN	1	139,097,977 (GRCm39)	missense	probably benign	0.01
IGL00959:Dennd1b	APN	1	139,071,626 (GRCm39)	splice site	probably benign
IGL01446:Dennd1b	APN	1	138,950,848 (GRCm39)	missense	possibly damaging	0.61
IGL01610:Dennd1b	APN	1	139,097,504 (GRCm39)	utr 3 prime	probably benign
IGL02275:Dennd1b	APN	1	139,008,992 (GRCm39)	missense	probably damaging	1.00
IGL02851:Dennd1b	APN	1	139,096,705 (GRCm39)	utr 3 prime	probably benign
IGL02995:Dennd1b	APN	1	139,008,980 (GRCm39)	missense	probably damaging	1.00
IGL03089:Dennd1b	APN	1	139,029,767 (GRCm39)	missense	possibly damaging	0.94
IGL03240:Dennd1b	APN	1	139,067,130 (GRCm39)	missense	possibly damaging	0.63
IGL03267:Dennd1b	APN	1	138,990,599 (GRCm39)	nonsense	probably null
Dendrite	UTSW	1	138,981,155 (GRCm39)	critical splice donor site	probably null
LCD18:Dennd1b	UTSW	1	139,042,502 (GRCm39)	intron	probably benign
PIT4418001:Dennd1b	UTSW	1	139,008,999 (GRCm39)	missense
PIT4504001:Dennd1b	UTSW	1	138,967,742 (GRCm39)	missense	probably benign	0.28
R0426:Dennd1b	UTSW	1	139,097,934 (GRCm39)	missense	probably benign
R0445:Dennd1b	UTSW	1	139,095,503 (GRCm39)	splice site	probably benign
R0497:Dennd1b	UTSW	1	138,967,724 (GRCm39)	splice site	probably benign
R0627:Dennd1b	UTSW	1	139,008,957 (GRCm39)	missense	probably damaging	1.00
R1027:Dennd1b	UTSW	1	138,969,700 (GRCm39)	missense	probably damaging	1.00
R1599:Dennd1b	UTSW	1	139,095,468 (GRCm39)	missense	probably benign	0.01
R1703:Dennd1b	UTSW	1	139,097,492 (GRCm39)	critical splice acceptor site	probably null
R1943:Dennd1b	UTSW	1	139,096,690 (GRCm39)	utr 3 prime	probably benign
R2504:Dennd1b	UTSW	1	139,097,908 (GRCm39)	utr 3 prime	probably benign
R2866:Dennd1b	UTSW	1	139,098,019 (GRCm39)	missense	possibly damaging	0.58
R3109:Dennd1b	UTSW	1	138,969,654 (GRCm39)	splice site	probably benign
R3843:Dennd1b	UTSW	1	138,981,092 (GRCm39)	missense	probably damaging	1.00
R3926:Dennd1b	UTSW	1	139,071,697 (GRCm39)	missense	probably benign	0.00
R4258:Dennd1b	UTSW	1	138,990,678 (GRCm39)	missense	probably damaging	1.00
R4504:Dennd1b	UTSW	1	139,013,665 (GRCm39)	missense	possibly damaging	0.82
R4805:Dennd1b	UTSW	1	138,981,122 (GRCm39)	missense	probably damaging	1.00
R4922:Dennd1b	UTSW	1	139,013,652 (GRCm39)	missense	probably damaging	0.99
R4954:Dennd1b	UTSW	1	138,981,124 (GRCm39)	missense	probably damaging	1.00
R5098:Dennd1b	UTSW	1	139,061,459 (GRCm39)	missense	probably damaging	0.97
R5205:Dennd1b	UTSW	1	138,982,306 (GRCm39)	missense	probably benign	0.00
R5240:Dennd1b	UTSW	1	138,990,615 (GRCm39)	missense	probably damaging	1.00
R5383:Dennd1b	UTSW	1	139,095,409 (GRCm39)	missense	probably benign
R5504:Dennd1b	UTSW	1	139,018,246 (GRCm39)	missense	probably benign	0.07
R5702:Dennd1b	UTSW	1	139,061,413 (GRCm39)	missense	probably damaging	1.00
R5801:Dennd1b	UTSW	1	138,967,727 (GRCm39)	splice site	probably null
R6144:Dennd1b	UTSW	1	139,008,993 (GRCm39)	missense	probably damaging	1.00
R6190:Dennd1b	UTSW	1	139,061,413 (GRCm39)	missense	probably damaging	1.00
R6192:Dennd1b	UTSW	1	139,095,456 (GRCm39)	missense	probably benign	0.00
R6289:Dennd1b	UTSW	1	139,096,683 (GRCm39)	utr 3 prime	probably benign
R6453:Dennd1b	UTSW	1	139,071,686 (GRCm39)	missense	probably benign	0.07
R6479:Dennd1b	UTSW	1	138,969,698 (GRCm39)	intron	probably benign
R6940:Dennd1b	UTSW	1	138,981,155 (GRCm39)	critical splice donor site	probably null
R6954:Dennd1b	UTSW	1	139,096,683 (GRCm39)	utr 3 prime	probably benign
R7183:Dennd1b	UTSW	1	139,097,990 (GRCm39)	missense	unknown
R7710:Dennd1b	UTSW	1	138,990,670 (GRCm39)	missense	probably damaging	1.00
R7742:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7796:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7871:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7920:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7921:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7991:Dennd1b	UTSW	1	139,013,634 (GRCm39)	missense
R8025:Dennd1b	UTSW	1	139,038,158 (GRCm39)	missense
R8239:Dennd1b	UTSW	1	138,969,673 (GRCm39)	missense	probably benign	0.02
R8526:Dennd1b	UTSW	1	138,950,858 (GRCm39)	nonsense	probably null
R8532:Dennd1b	UTSW	1	139,097,912 (GRCm39)	utr 3 prime	probably benign
R8691:Dennd1b	UTSW	1	138,969,774 (GRCm39)	missense	possibly damaging	0.93
R9229:Dennd1b	UTSW	1	138,981,100 (GRCm39)	nonsense	probably null
R9577:Dennd1b	UTSW	1	139,018,196 (GRCm39)	missense
RF008:Dennd1b	UTSW	1	138,981,135 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2015-02-05