Mutagenetix > Incidental Mutation

Incidental Mutation 'R2504:Dennd1b'

252058

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN/MADD domain containing 1B

Synonyms

4632404N19Rik, 6820401H01Rik, 4930467M19Rik, F730008N07Rik

MMRRC Submission

040412-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2504 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138963435-139178960 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 139170170 bp (GRCm38)

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

unknown
Transcript: ENSMUST00000094505
AA Change: K650E

SMART Domains

Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: K650E

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

Predicted Effect

unknown
Transcript: ENSMUST00000168527
AA Change: K725E

SMART Domains

Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: K725E

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,219,216 (GRCm38)	E1750K	probably damaging	Het
4933425L06Rik	A	G	13: 105,109,742 (GRCm38)	I270M	probably benign	Het
Aatk	T	C	11: 120,018,855 (GRCm38)	D28G	probably benign	Het
Abcg1	T	A	17: 31,092,395 (GRCm38)	S125T	probably damaging	Het
Actbl2	T	C	13: 111,256,183 (GRCm38)	S351P	possibly damaging	Het
Ankrd34b	A	G	13: 92,439,061 (GRCm38)		probably null	Het
BC030867	T	C	11: 102,255,296 (GRCm38)	Y133H	possibly damaging	Het
BC051665	C	T	13: 60,782,654 (GRCm38)	V295I	probably benign	Het
C1qtnf2	A	G	11: 43,491,156 (GRCm38)	N265S	probably damaging	Het
Ccdc14	C	T	16: 34,721,850 (GRCm38)	R573*	probably null	Het
Cd55b	A	T	1: 130,409,875 (GRCm38)	Y247N	probably damaging	Het
Celsr2	A	T	3: 108,413,591 (GRCm38)	V635E	probably benign	Het
Clec16a	T	C	16: 10,559,687 (GRCm38)		probably benign	Het
Clec4b1	A	G	6: 123,065,945 (GRCm38)	Y41C	probably damaging	Het
Cntn5	A	T	9: 10,172,121 (GRCm38)	D19E	probably benign	Het
Cop1	A	G	1: 159,232,805 (GRCm38)	N53S	probably damaging	Het
Csad	A	T	15: 102,188,667 (GRCm38)	M1K	probably null	Het
Cyb5rl	A	G	4: 107,080,945 (GRCm38)	I200V	probably benign	Het
Cyp26a1	A	G	19: 37,698,342 (GRCm38)	T81A	probably damaging	Het
Cyp2d12	A	T	15: 82,559,036 (GRCm38)	H433L	probably benign	Het
D7Ertd443e	T	A	7: 134,349,479 (GRCm38)		probably null	Het
Dmap1	G	T	4: 117,675,298 (GRCm38)	T357K	probably damaging	Het
Dzip1	G	T	14: 118,881,044 (GRCm38)	T759K	probably benign	Het
Elmo2	A	G	2: 165,298,687 (GRCm38)	V300A	probably damaging	Het
Eml5	T	C	12: 98,844,105 (GRCm38)	D864G	possibly damaging	Het
Ep400	A	G	5: 110,668,645 (GRCm38)	V2670A	probably damaging	Het
Epha3	T	A	16: 63,603,625 (GRCm38)	I534F	probably damaging	Het
Epha4	A	C	1: 77,382,991 (GRCm38)	Y742D	probably damaging	Het
Ergic2	A	G	6: 148,204,774 (GRCm38)		probably null	Het
Ero1l	A	T	14: 45,299,088 (GRCm38)		probably null	Het
Fam229a	A	G	4: 129,491,486 (GRCm38)	D70G	probably damaging	Het
Fbn2	C	T	18: 58,093,359 (GRCm38)	R781Q	probably damaging	Het
Fbxo16	A	T	14: 65,270,714 (GRCm38)		probably benign	Het
Fbxo39	T	A	11: 72,317,285 (GRCm38)	S154R	probably benign	Het
Fer	T	A	17: 63,991,580 (GRCm38)		probably null	Het
Filip1l	A	T	16: 57,571,047 (GRCm38)	D428V	probably damaging	Het
Filip1l	A	G	16: 57,570,662 (GRCm38)	I538V	possibly damaging	Het
Fsip2	T	C	2: 82,979,610 (GRCm38)	I2091T	possibly damaging	Het
Glyat	A	C	19: 12,651,398 (GRCm38)	T186P	possibly damaging	Het
Gm10604	A	G	4: 11,980,083 (GRCm38)	S74P	unknown	Het
Gm4787	T	G	12: 81,379,137 (GRCm38)	K82N	possibly damaging	Het
Hectd4	T	C	5: 121,220,620 (GRCm38)	I50T	unknown	Het
Hectd4	T	C	5: 121,263,967 (GRCm38)	S373P	possibly damaging	Het
Hmcn1	A	T	1: 150,686,867 (GRCm38)	C2313*	probably null	Het
Igfn1	A	T	1: 135,969,316 (GRCm38)	S1171T	probably benign	Het
Ints8	T	C	4: 11,241,642 (GRCm38)	D267G	probably benign	Het
Itln1	A	G	1: 171,529,159 (GRCm38)	C251R	probably damaging	Het
Jcad	C	T	18: 4,674,026 (GRCm38)	T596M	probably damaging	Het
Kcnj16	C	T	11: 111,025,583 (GRCm38)	T357M	probably benign	Het
Kif13a	G	A	13: 46,814,200 (GRCm38)	T346M	probably damaging	Het
Klhl24	G	A	16: 20,120,167 (GRCm38)	A491T	probably benign	Het
Kntc1	C	T	5: 123,778,347 (GRCm38)	Q748*	probably null	Het
Krt25	T	A	11: 99,317,296 (GRCm38)	K369*	probably null	Het
Krt75	C	T	15: 101,568,031 (GRCm38)	R433Q	probably benign	Het
Krt76	A	G	15: 101,884,858 (GRCm38)	F582L	unknown	Het
Lysmd1	G	A	3: 95,138,397 (GRCm38)	V182I	probably benign	Het
Mab21l2	T	A	3: 86,547,555 (GRCm38)	E46V	probably damaging	Het
Magi2	A	T	5: 20,358,936 (GRCm38)	K355N	probably damaging	Het
March10	T	C	11: 105,385,572 (GRCm38)	D630G	probably damaging	Het
Mast4	A	T	13: 102,738,639 (GRCm38)	I1215N	probably damaging	Het
Nckap1	G	A	2: 80,530,218 (GRCm38)	T523I	probably benign	Het
Nexmif	T	A	X: 104,084,393 (GRCm38)	D1306V	probably damaging	Het
Nfkb1	A	C	3: 135,589,329 (GRCm38)	I918R	possibly damaging	Het
Nup50	A	T	15: 84,933,658 (GRCm38)	T93S	probably benign	Het
Nwd2	T	C	5: 63,804,374 (GRCm38)	Y434H	probably benign	Het
Olfr61	T	C	7: 140,638,484 (GRCm38)	V261A	probably benign	Het
Osbpl1a	C	A	18: 12,905,031 (GRCm38)	V288L	probably benign	Het
Pan3	A	G	5: 147,527,036 (GRCm38)	E562G	possibly damaging	Het
Pappa	T	A	4: 65,180,889 (GRCm38)	Y548*	probably null	Het
Phf3	A	T	1: 30,810,789 (GRCm38)	L1181Q	probably damaging	Het
Phip	T	C	9: 82,915,339 (GRCm38)	H537R	possibly damaging	Het
Pkhd1l1	T	C	15: 44,485,428 (GRCm38)	I240T	probably damaging	Het
Pole	G	A	5: 110,290,502 (GRCm38)		probably null	Het
Polq	T	A	16: 37,011,942 (GRCm38)	S15T	unknown	Het
Prrt2	T	C	7: 127,020,224 (GRCm38)	E23G	possibly damaging	Het
Prss37	A	T	6: 40,517,826 (GRCm38)		probably null	Het
Prune2	T	C	19: 17,000,036 (GRCm38)	L45P	probably damaging	Het
Psd	A	T	19: 46,324,913 (GRCm38)	M6K	possibly damaging	Het
Psmd1	A	G	1: 86,089,997 (GRCm38)	E510G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Pxdn	T	A	12: 30,003,406 (GRCm38)	I1194N	probably damaging	Het
Rbp3	C	T	14: 33,956,018 (GRCm38)	T641M	probably damaging	Het
Rgmb	C	A	17: 15,807,647 (GRCm38)	R270L	probably benign	Het
Rpgrip1l	A	G	8: 91,280,716 (GRCm38)		probably null	Het
Rps2	G	A	17: 24,720,379 (GRCm38)		probably benign	Het
Rsbn1l	G	T	5: 20,902,366 (GRCm38)	A550E	probably damaging	Het
S1pr4	C	T	10: 81,499,304 (GRCm38)	R112H	probably benign	Het
Scfd2	T	C	5: 74,531,177 (GRCm38)	N148S	probably damaging	Het
Scin	C	T	12: 40,081,706 (GRCm38)	M276I	probably benign	Het
Sec24d	T	C	3: 123,353,606 (GRCm38)	I708T	possibly damaging	Het
Skint11	T	A	4: 114,228,812 (GRCm38)	F41I	possibly damaging	Het
Slc15a4	A	T	5: 127,617,239 (GRCm38)	F44Y	possibly damaging	Het
Slc6a18	A	G	13: 73,675,806 (GRCm38)	Y72H	probably benign	Het
Slc7a11	A	T	3: 50,377,746 (GRCm38)		probably null	Het
Slc7a14	G	T	3: 31,237,501 (GRCm38)	N209K	possibly damaging	Het
Sstr2	T	C	11: 113,624,431 (GRCm38)	C59R	probably damaging	Het
Stab1	A	G	14: 31,163,040 (GRCm38)		probably null	Het
Stag1	G	T	9: 100,866,210 (GRCm38)	S475I	probably damaging	Het
Stxbp5l	A	G	16: 37,115,667 (GRCm38)	Y1183H	probably damaging	Het
Svep1	A	T	4: 58,135,628 (GRCm38)		probably null	Het
Tm9sf2	A	G	14: 122,158,684 (GRCm38)	T653A	probably benign	Het
Tmeff1	T	C	4: 48,662,059 (GRCm38)	S366P	possibly damaging	Het
Tnnt2	G	T	1: 135,852,065 (GRCm38)	W300L	probably damaging	Het
Traj32	A	G	14: 54,186,103 (GRCm38)		probably benign	Het
Trp53bp2	A	T	1: 182,441,639 (GRCm38)	M223L	probably benign	Het
Tsga10	G	A	1: 37,815,677 (GRCm38)	T246M	probably damaging	Het
Txn2	A	T	15: 77,926,670 (GRCm38)		probably benign	Het
Ubr3	T	A	2: 69,938,198 (GRCm38)	F450I	probably damaging	Het
Usp47	T	C	7: 112,104,470 (GRCm38)		probably null	Het
Vars2	C	T	17: 35,664,793 (GRCm38)	R244Q	probably damaging	Het
Xrra1	T	A	7: 99,897,596 (GRCm38)	F251L	probably damaging	Het
Zfp804a	G	A	2: 82,257,519 (GRCm38)	R564Q	probably benign	Het
Zfp983	T	C	17: 21,658,967 (GRCm38)	C29R	probably damaging	Het

Other mutations in Dennd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Dennd1b	APN	1	139,062,940 (GRCm38)	missense	probably damaging	1.00
IGL00510:Dennd1b	APN	1	139,102,071 (GRCm38)	missense	probably damaging	1.00
IGL00671:Dennd1b	APN	1	139,133,737 (GRCm38)	missense	possibly damaging	0.94
IGL00937:Dennd1b	APN	1	139,170,239 (GRCm38)	missense	probably benign	0.01
IGL00959:Dennd1b	APN	1	139,143,888 (GRCm38)	splice site	probably benign
IGL01446:Dennd1b	APN	1	139,023,110 (GRCm38)	missense	possibly damaging	0.61
IGL01610:Dennd1b	APN	1	139,169,766 (GRCm38)	utr 3 prime	probably benign
IGL02275:Dennd1b	APN	1	139,081,254 (GRCm38)	missense	probably damaging	1.00
IGL02851:Dennd1b	APN	1	139,168,967 (GRCm38)	utr 3 prime	probably benign
IGL02995:Dennd1b	APN	1	139,081,242 (GRCm38)	missense	probably damaging	1.00
IGL03089:Dennd1b	APN	1	139,102,029 (GRCm38)	missense	possibly damaging	0.94
IGL03240:Dennd1b	APN	1	139,139,392 (GRCm38)	missense	possibly damaging	0.63
IGL03267:Dennd1b	APN	1	139,062,861 (GRCm38)	nonsense	probably null
Dendrite	UTSW	1	139,053,417 (GRCm38)	critical splice donor site	probably null
LCD18:Dennd1b	UTSW	1	139,114,764 (GRCm38)	intron	probably benign
PIT4418001:Dennd1b	UTSW	1	139,081,261 (GRCm38)	missense
PIT4504001:Dennd1b	UTSW	1	139,040,004 (GRCm38)	missense	probably benign	0.28
R0426:Dennd1b	UTSW	1	139,170,196 (GRCm38)	missense	probably benign
R0445:Dennd1b	UTSW	1	139,167,765 (GRCm38)	splice site	probably benign
R0497:Dennd1b	UTSW	1	139,039,986 (GRCm38)	splice site	probably benign
R0627:Dennd1b	UTSW	1	139,081,219 (GRCm38)	missense	probably damaging	1.00
R1027:Dennd1b	UTSW	1	139,041,962 (GRCm38)	missense	probably damaging	1.00
R1599:Dennd1b	UTSW	1	139,167,730 (GRCm38)	missense	probably benign	0.01
R1703:Dennd1b	UTSW	1	139,169,754 (GRCm38)	critical splice acceptor site	probably null
R1844:Dennd1b	UTSW	1	139,090,405 (GRCm38)	splice site	probably null
R1943:Dennd1b	UTSW	1	139,168,952 (GRCm38)	utr 3 prime	probably benign
R2866:Dennd1b	UTSW	1	139,170,281 (GRCm38)	missense	possibly damaging	0.58
R3109:Dennd1b	UTSW	1	139,041,916 (GRCm38)	splice site	probably benign
R3843:Dennd1b	UTSW	1	139,053,354 (GRCm38)	missense	probably damaging	1.00
R3926:Dennd1b	UTSW	1	139,143,959 (GRCm38)	missense	probably benign	0.00
R4258:Dennd1b	UTSW	1	139,062,940 (GRCm38)	missense	probably damaging	1.00
R4504:Dennd1b	UTSW	1	139,085,927 (GRCm38)	missense	possibly damaging	0.82
R4805:Dennd1b	UTSW	1	139,053,384 (GRCm38)	missense	probably damaging	1.00
R4922:Dennd1b	UTSW	1	139,085,914 (GRCm38)	missense	probably damaging	0.99
R4954:Dennd1b	UTSW	1	139,053,386 (GRCm38)	missense	probably damaging	1.00
R5098:Dennd1b	UTSW	1	139,133,721 (GRCm38)	missense	probably damaging	0.97
R5205:Dennd1b	UTSW	1	139,054,568 (GRCm38)	missense	probably benign	0.00
R5240:Dennd1b	UTSW	1	139,062,877 (GRCm38)	missense	probably damaging	1.00
R5383:Dennd1b	UTSW	1	139,167,671 (GRCm38)	missense	probably benign
R5504:Dennd1b	UTSW	1	139,090,508 (GRCm38)	missense	probably benign	0.07
R5702:Dennd1b	UTSW	1	139,133,675 (GRCm38)	missense	probably damaging	1.00
R5801:Dennd1b	UTSW	1	139,039,989 (GRCm38)	splice site	probably null
R6144:Dennd1b	UTSW	1	139,081,255 (GRCm38)	missense	probably damaging	1.00
R6190:Dennd1b	UTSW	1	139,133,675 (GRCm38)	missense	probably damaging	1.00
R6192:Dennd1b	UTSW	1	139,167,718 (GRCm38)	missense	probably benign	0.00
R6289:Dennd1b	UTSW	1	139,168,945 (GRCm38)	utr 3 prime	probably benign
R6453:Dennd1b	UTSW	1	139,143,948 (GRCm38)	missense	probably benign	0.07
R6479:Dennd1b	UTSW	1	139,041,960 (GRCm38)	intron	probably benign
R6940:Dennd1b	UTSW	1	139,053,417 (GRCm38)	critical splice donor site	probably null
R6954:Dennd1b	UTSW	1	139,168,945 (GRCm38)	utr 3 prime	probably benign
R7183:Dennd1b	UTSW	1	139,170,252 (GRCm38)	missense	unknown
R7710:Dennd1b	UTSW	1	139,062,932 (GRCm38)	missense	probably damaging	1.00
R7742:Dennd1b	UTSW	1	139,062,873 (GRCm38)	missense	probably damaging	1.00
R7796:Dennd1b	UTSW	1	139,062,873 (GRCm38)	missense	probably damaging	1.00
R7871:Dennd1b	UTSW	1	139,062,873 (GRCm38)	missense	probably damaging	1.00
R7920:Dennd1b	UTSW	1	139,062,873 (GRCm38)	missense	probably damaging	1.00
R7921:Dennd1b	UTSW	1	139,062,873 (GRCm38)	missense	probably damaging	1.00
R7991:Dennd1b	UTSW	1	139,085,896 (GRCm38)	missense
R8025:Dennd1b	UTSW	1	139,110,420 (GRCm38)	missense
R8239:Dennd1b	UTSW	1	139,041,935 (GRCm38)	missense	probably benign	0.02
R8526:Dennd1b	UTSW	1	139,023,120 (GRCm38)	nonsense	probably null
R8532:Dennd1b	UTSW	1	139,170,174 (GRCm38)	utr 3 prime	probably benign
R8691:Dennd1b	UTSW	1	139,042,036 (GRCm38)	missense	possibly damaging	0.93
R9229:Dennd1b	UTSW	1	139,053,362 (GRCm38)	nonsense	probably null
R9577:Dennd1b	UTSW	1	139,090,458 (GRCm38)	missense
RF008:Dennd1b	UTSW	1	139,053,397 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAAGTGGCCCTACTGTGGTG -3'
(R):5'- CATCTCAGGGAAGGAATTCCACATG -3'

Sequencing Primer
(F):5'- CTACTGTGGTGGGAAAGCC -3'
(R):5'- GAATTCCACATGCCTCCGGAG -3'

Posted On

2014-12-04