Mutagenetix > Incidental Mutation

Incidental Mutation 'LCD18:Dennd1b'

478150

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN domain containing 1B

Synonyms

F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

LCD18 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

138891447-139103781 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 139042502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143783 (fasta)

Gene Model

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

AlphaFold

Q3U1T9

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: ENSMUST00000198418

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

0.0898

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

88% (169/191)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	A	G	8: 100,450,057 (GRCm39)		noncoding transcript	Het
Aff2	C	A	X: 68,791,141 (GRCm39)		probably benign	Het
Aldh1a1	C	A	19: 20,604,010 (GRCm39)		probably benign	Het
Anxa7	C	T	14: 20,519,479 (GRCm39)	G113E	probably damaging	Het
Apba2	A	T	7: 64,271,908 (GRCm39)		probably benign	Het
Apc2	G	C	10: 80,135,808 (GRCm39)		probably benign	Het
App	C	G	16: 84,822,300 (GRCm39)		probably benign	Het
Asic2	C	A	11: 80,876,570 (GRCm39)		probably benign	Het
Btk	T	C	X: 133,479,574 (GRCm39)		probably benign	Het
Car12	C	A	9: 66,668,958 (GRCm39)		probably benign	Het
Ccdc121	GAGAAG	GAG	5: 31,644,717 (GRCm39)		probably benign	Het
Ccdc191	G	A	16: 43,742,164 (GRCm39)		probably benign	Het
Ccdc34	N		2: 110,016,318 (GRCm38)		probably benign	Het
Cd164	G	T	10: 41,397,922 (GRCm39)	A59S	probably benign	Het
Cd22	C	T	7: 30,577,507 (GRCm39)	R2H	possibly damaging	Het
Cdv3	C	A	9: 103,242,553 (GRCm39)		probably benign	Het
Cdv3	A	T	9: 103,242,542 (GRCm39)		probably benign	Het
Celf2	N		2: 6,779,076 (GRCm38)		probably benign	Het
Cfap299	G	A	5: 98,855,367 (GRCm39)		probably benign	Het
Clec18a	C	A	8: 111,802,768 (GRCm39)		probably benign	Het
Cnpy3	GGATGGAT	GGATAGATAGATAGATAGATGGAT	17: 47,048,462 (GRCm39)		probably benign	Het
Cntn4	A	G	6: 106,530,901 (GRCm39)		probably benign	Het
Cntnap5c	G	C	17: 58,469,155 (GRCm39)		probably benign	Het
Col2a1	C	A	15: 97,886,862 (GRCm39)		probably null	Het
Cpne3	G	T	4: 19,563,382 (GRCm39)		probably benign	Het
Cracd	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	5: 76,806,589 (GRCm39)		probably benign	Het
Dab1	T	G	4: 103,903,769 (GRCm39)		probably benign	Het
Dapp1	G	A	3: 137,645,161 (GRCm39)		probably benign	Het
Dcc	G	A	18: 72,430,518 (GRCm39)		probably benign	Het
Dcun1d1	GAAAAAAAAA	GAAAAAAAAAA	3: 35,992,154 (GRCm39)		probably benign	Het
Dhdds	TAA	TA	4: 133,697,674 (GRCm39)		probably benign	Het
Dnah12	G	T	14: 26,571,342 (GRCm39)	G2817V	probably damaging	Het
Dnm3	CATATATATATATATATATATATA	CATATATATATATATATATATA	1: 162,234,130 (GRCm39)		probably benign	Het
Dock10	N		1: 80,716,623 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 183,769,253 (GRCm39)	C73F	probably damaging	Het
Fgf20	A	C	8: 40,745,359 (GRCm39)		probably benign	Het
Ftsj3	G	T	11: 106,140,885 (GRCm39)		probably benign	Het
Gls	T	G	1: 52,222,526 (GRCm39)		probably benign	Het
Gm12130	T	C	11: 38,397,750 (GRCm39)		noncoding transcript	Het
Gm14936	G	A	X: 111,908,447 (GRCm39)		noncoding transcript	Het
Gm16630	C	T	6: 48,118,203 (GRCm39)		noncoding transcript	Het
Gm22194	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	10: 11,816,707 (GRCm39)		noncoding transcript	Het
Gm26917	C	G	17: 40,154,862 (GRCm39)		noncoding transcript	Het
Gm35048	GACACACACACACACACACACACACACACACACACACAC	GACACACACACACACACACACACACACACACACACAC	1: 90,449,248 (GRCm39)		noncoding transcript	Het
Gm37311	G	A	16: 77,415,169 (GRCm39)		noncoding transcript	Het
Gm37928	AACACACACACACACACACACACACACACACACA	AACACACACACACACACACACACACACACACACACA	3: 118,328,206 (GRCm39)		noncoding transcript	Het
Gm4302	T	C	10: 100,177,306 (GRCm39)	W197R	probably benign	Het
H2-Q4	G	A	17: 35,599,381 (GRCm39)	D155N	probably damaging	Het
H2-T23	T	C	17: 36,342,108 (GRCm39)		probably benign	Het
Hgs	CTTTTTTT	CTTTTTT	11: 120,360,404 (GRCm39)		probably benign	Het
Ighv5-9	C	T	12: 113,625,497 (GRCm39)	S82N	probably benign	Het
Il1rap	C	A	16: 26,450,343 (GRCm39)		probably benign	Het
Inhbc	N		10: 127,367,140 (GRCm38)		probably benign	Het
Inpp4b	C	T	8: 82,419,639 (GRCm39)		probably benign	Het
Kars1	N		8: 111,993,708 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 120,360,258 (GRCm39)	Y39*	probably null	Het
Kcnh7	A	G	2: 62,880,143 (GRCm39)		probably benign	Het
Klhl1	G	C	14: 96,555,166 (GRCm39)		probably benign	Het
Lrch1	C	T	14: 75,142,461 (GRCm39)		probably benign	Het
Lrp1b	G	C	2: 42,127,574 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,844,315 (GRCm39)		probably benign	Het
Lsm8	G	A	6: 18,854,320 (GRCm39)		probably benign	Het
Magi2	T	C	5: 20,159,509 (GRCm39)		probably benign	Het
Matcap2	N		9: 22,442,083 (GRCm38)		probably benign	Het
Mef2c	G	A	13: 83,753,942 (GRCm39)		probably benign	Het
Mei4	A	G	9: 82,069,012 (GRCm39)		probably benign	Het
Mid1	T	A	X: 168,788,560 (GRCm39)		probably benign	Het
Mndal	G	C	1: 173,707,784 (GRCm39)		probably benign	Het
Mpped2	C	A	2: 106,551,773 (GRCm39)		probably benign	Het
Mtarc2	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	TAGGCAGCCAATCAGAGCACTGCCTCTCAGCGCCAGGCA	1: 184,554,985 (GRCm39)		probably benign	Het
Mtf1	A	G	4: 124,723,109 (GRCm39)		probably benign	Het
Mxd1	T	C	6: 86,644,388 (GRCm39)		probably benign	Het
Nbea	G	T	3: 55,608,948 (GRCm39)		probably benign	Het
Ncor1	N		11: 62,419,782 (GRCm38)		probably benign	Het
Nox4	A	G	7: 86,892,275 (GRCm39)		probably benign	Het
Ocln	C	T	13: 100,657,075 (GRCm39)		probably benign	Het
Ofcc1	G	A	13: 40,246,443 (GRCm39)		probably benign	Het
Or5af2	T	A	11: 58,708,266 (GRCm39)	V144D	possibly damaging	Het
Paics	N		5: 76,956,744 (GRCm38)		probably null	Het
Paqr8	G	T	1: 20,984,882 (GRCm39)		probably benign	Het
Pate9	T	C	9: 36,444,849 (GRCm39)		probably benign	Het
Pdss1	C	T	2: 22,790,980 (GRCm39)		probably benign	Het
Piezo1	G	A	8: 123,222,308 (GRCm39)	R503W	probably damaging	Het
Pkhd1	G	A	1: 20,681,638 (GRCm39)		probably benign	Het
Ppp1r3f	C	A	X: 7,426,575 (GRCm39)	G562V	probably damaging	Het
Prr16	C	T	18: 51,333,396 (GRCm39)		probably benign	Het
Prss38	T	G	11: 59,266,467 (GRCm39)		probably benign	Het
Prxl2c	G	A	13: 64,435,099 (GRCm39)		probably benign	Het
Ptprk	T	C	10: 28,450,983 (GRCm39)		probably benign	Het
Pum1	N		4: 130,730,549 (GRCm38)		probably benign	Het
Rabgef1	N		5: 130,187,586 (GRCm38)		probably null	Het
Rgs16	G	A	1: 153,619,976 (GRCm39)		probably benign	Het
Riok3	G	T	18: 12,263,039 (GRCm39)		probably benign	Het
Rn18s-rs5	T	C	17: 40,159,446 (GRCm39)		noncoding transcript	Het
Robo2	N		16: 74,055,954 (GRCm38)		probably benign	Het
Rps6ka3	A	G	X: 158,062,211 (GRCm39)		probably benign	Het
Rptn	T	A	3: 93,304,848 (GRCm39)	L727Q	probably benign	Het
Slc25a46	C	A	18: 31,730,366 (GRCm39)		probably benign	Het
Spata31f1e	T	C	4: 42,792,885 (GRCm39)	T416A	probably benign	Het
Spsb1	C	T	4: 150,036,943 (GRCm39)		probably benign	Het
Tbc1d19	A	C	5: 53,974,051 (GRCm39)		probably benign	Het
Trav7-4	C	T	14: 53,698,975 (GRCm39)	L41F	probably benign	Het
Trip12	N		1: 84,754,482 (GRCm38)		probably benign	Het
Ttc13	G	A	8: 125,402,605 (GRCm39)		probably benign	Het
Ttll6	C	T	11: 96,046,084 (GRCm39)		probably benign	Het
Unc5b	C	G	10: 60,621,950 (GRCm39)		probably benign	Het
Vmn2r87	C	T	10: 130,314,583 (GRCm39)	M334I	probably benign	Het
Vps13b	G	T	15: 35,847,103 (GRCm39)	A2629S	probably damaging	Het
Wars2	N		3: 99,214,774 (GRCm38)		probably null	Het
Zdhhc3	AACACACACACACACACACACACACACACACAC	AACACACACACACACACACACACACACACACACAC	9: 122,912,087 (GRCm39)		probably benign	Het
Zfp26	C	A	9: 20,349,842 (GRCm39)	A241S	probably benign	Het
Zfp442	C	T	2: 150,261,768 (GRCm39)		probably benign	Het
Zfp808	C	T	13: 62,314,465 (GRCm39)		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
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
R1844:Dennd1b	UTSW	1	139,018,143 (GRCm39)	splice 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

PCR Primer
(F):5'- GCAATTGCTAACTCATTTGAGGAAG -3'
(R):5'- GCACTTGTAACTGAGCCCAC -3'

Sequencing Primer
(F):5'- ATGGTAGGGAAGATTTCAGTTAAAC -3'
(R):5'- CCAGGCCCCAACAGAGAG -3'

Posted On

2017-05-26