Mutagenetix > Incidental Mutation

Incidental Mutation 'R6954:Dennd1b'

541350

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN/MADD domain containing 1B

Synonyms

4632404N19Rik, 6820401H01Rik, 4930467M19Rik, F730008N07Rik

MMRRC Submission

045066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6954 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138963435-139178960 bp(+) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to A at 139168945 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: I477N

SMART Domains

Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: I477N

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: I552N

SMART Domains

Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: I552N

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: 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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

98% (57/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	T	A	11: 58,608,488	Y168F	probably benign	Het
4930451I11Rik	A	T	7: 126,830,637		probably null	Het
Alox5	A	C	6: 116,420,280	Y314*	probably null	Het
Ap4e1	T	C	2: 127,064,951	S1044P	probably benign	Het
Ash2l	A	G	8: 25,822,768	V391A	possibly damaging	Het
B4galnt4	A	G	7: 141,067,232	T326A	probably benign	Het
Ccm2	T	A	11: 6,594,239	I345N	probably damaging	Het
Cntnap3	G	A	13: 64,748,559	H1034Y	probably benign	Het
Cpsf1	A	G	15: 76,599,496	L849S	probably damaging	Het
Ctrb1	A	G	8: 111,686,664	S239P	probably damaging	Het
D13Ertd608e	A	G	13: 119,846,130	D20G	possibly damaging	Het
Dnah17	A	G	11: 118,066,432	I2773T	probably damaging	Het
Eif2b2	T	A	12: 85,226,043	F267L	probably damaging	Het
Fcrls	A	G	3: 87,263,676		probably benign	Het
Furin	G	T	7: 80,396,964	D181E	possibly damaging	Het
Gm29106	T	A	1: 118,200,587	C670S	probably damaging	Het
Gm6309	A	T	5: 146,168,490	D204E	possibly damaging	Het
Hsf2	T	A	10: 57,504,643	I191N	probably damaging	Het
Hspa12a	T	C	19: 58,799,692	D566G	probably benign	Het
Igf1	G	C	10: 87,864,860	V49L	probably damaging	Het
Igfbpl1	C	T	4: 45,826,663	C44Y	probably damaging	Het
Letm1	G	A	5: 33,782,507	R16C	probably benign	Het
Marf1	A	G	16: 14,138,520	V819A	probably damaging	Het
Mfsd4b4	A	T	10: 39,891,952	S428T	probably benign	Het
Myo1d	T	C	11: 80,674,957	I347M	probably benign	Het
Myo9b	A	G	8: 71,290,819	I175V	probably damaging	Het
Naip5	A	T	13: 100,223,414	V438E	probably damaging	Het
Nup205	T	A	6: 35,208,109	V768E	possibly damaging	Het
Olfr1015	T	A	2: 85,786,382	Y290*	probably null	Het
Olfr731	A	T	14: 50,238,110	Y258*	probably null	Het
Pcdh15	C	T	10: 74,645,989	H1651Y	possibly damaging	Het
Pdgfra	A	T	5: 75,173,394	Q376L	possibly damaging	Het
Pign	T	C	1: 105,553,897	I791M	probably benign	Het
Pik3c2b	T	G	1: 133,066,303	S2A	possibly damaging	Het
Pip5k1a	A	T	3: 95,068,247	I304K	probably damaging	Het
Pkdrej	A	T	15: 85,817,853	L1294*	probably null	Het
Pprc1	T	C	19: 46,064,433	S797P	probably damaging	Het
Prob1	A	G	18: 35,654,268	V311A	probably benign	Het
Prune2	C	A	19: 17,000,021	T40K	probably damaging	Het
Rif1	T	G	2: 52,112,691	D2052E	probably benign	Het
Sall1	A	G	8: 89,032,891	V195A	probably damaging	Het
Scfd1	T	C	12: 51,427,946		probably null	Het
Sidt2	A	T	9: 45,952,850	N123K	probably benign	Het
Slc22a6	G	A	19: 8,622,096	A320T	probably benign	Het
Slc25a10	A	G	11: 120,498,147	H279R	probably benign	Het
Slc35b4	A	G	6: 34,158,621	V252A	probably benign	Het
Slc46a3	T	C	5: 147,886,340	T231A	probably benign	Het
Stxbp1	T	A	2: 32,801,893	H429L	probably damaging	Het
Tas2r134	C	T	2: 51,627,770	T87I	probably benign	Het
Tdpoz2	A	T	3: 93,652,275	L130H	probably damaging	Het
Tmem69	T	C	4: 116,554,724		probably null	Het
Tmppe	G	A	9: 114,405,523	V297I	probably benign	Het
Ung	G	T	5: 114,131,337	A37S	probably benign	Het
Vdac1	T	C	11: 52,386,373	Y237H	probably damaging	Het
Vgll4	T	C	6: 114,921,367	Y11C	probably damaging	Het
Vmn1r24	A	G	6: 57,956,452	I27T	probably benign	Het
Zfp280b	T	A	10: 76,039,688	M467K	probably benign	Het
Zkscan4	A	G	13: 21,484,365	I329V	probably damaging	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
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	splice site	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
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
R7871:Dennd1b	UTSW	1	139062873	missense	probably damaging	1.00
R7920:Dennd1b	UTSW	1	139062873	missense	probably damaging	1.00
R7921:Dennd1b	UTSW	1	139062873	missense	probably damaging	1.00
R7991:Dennd1b	UTSW	1	139085896	missense
R8025:Dennd1b	UTSW	1	139110420	missense
R8239:Dennd1b	UTSW	1	139041935	missense	probably benign	0.02
R8526:Dennd1b	UTSW	1	139023120	nonsense	probably null
R8532:Dennd1b	UTSW	1	139170174	utr 3 prime	probably benign
R8691:Dennd1b	UTSW	1	139042036	missense	possibly damaging	0.93
R9229:Dennd1b	UTSW	1	139053362	nonsense	probably null
R9577:Dennd1b	UTSW	1	139090458	missense
RF008:Dennd1b	UTSW	1	139053397	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCCAGTTGTGACCTTGTTG -3'
(R):5'- ACCACAGTTTGACGTTTCTGTAC -3'

Sequencing Primer
(F):5'- CTGGCGTTTGTTGTTTAGCAAG -3'
(R):5'- ACGTTTCTGTACTTACCTAGAGG -3'

Posted On

2018-11-28