Mutagenetix > Incidental Mutations

Incidental Mutation 'R6190:Dennd1b'

502432

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN/MADD domain containing 1B

Synonyms

4632404N19Rik, 6820401H01Rik, 4930467M19Rik, F730008N07Rik

MMRRC Submission

044330-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6190 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138963435-139178960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139133675 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 365 (I365T)

Ref Sequence

ENSEMBL: ENSMUSP00000127580 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000094505
AA Change: I290T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: I290T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129972

Predicted Effect

probably damaging
Transcript: ENSMUST00000168527
AA Change: I365T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: I365T

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

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,605,608	L224Q	probably damaging	Het
Abcc5	A	G	16: 20,392,779	M478T	probably benign	Het
Acot10	T	C	15: 20,665,785	D290G	possibly damaging	Het
Actr3b	A	G	5: 25,831,690	Q167R	probably benign	Het
Actr8	C	T	14: 29,991,717	R565*	probably null	Het
Adcy7	C	T	8: 88,325,730		probably null	Het
Adgrb3	C	T	1: 25,420,647	V576I	probably benign	Het
Adgrv1	T	A	13: 81,459,763		probably null	Het
Adgrv1	A	T	13: 81,524,779		probably null	Het
Ak2	A	G	4: 128,999,183	D45G	probably damaging	Het
Ak9	C	G	10: 41,422,407	Q1489E	unknown	Het
Ak9	A	T	10: 41,422,408	Q1489L	unknown	Het
Akap12	C	A	10: 4,356,268	S1026Y	possibly damaging	Het
Ankhd1	T	G	18: 36,611,809	S601A	possibly damaging	Het
Apba2	A	T	7: 64,739,880	E508V	probably damaging	Het
Arhgap18	A	G	10: 26,846,035	M1V	probably null	Het
Arhgef10l	G	A	4: 140,542,762	T865M	possibly damaging	Het
Bdh1	T	A	16: 31,449,897	V150D	probably damaging	Het
Becn1	A	G	11: 101,295,374	C135R	probably damaging	Het
C2cd4d	A	G	3: 94,363,919	D164G	probably benign	Het
C87414	A	T	5: 93,638,078	N114K	probably benign	Het
Cacna1e	C	A	1: 154,486,570	V424F	possibly damaging	Het
Capn7	C	A	14: 31,363,603	T511K	probably benign	Het
Cdc5l	G	A	17: 45,408,017	P558S	probably benign	Het
Cep170	T	A	1: 176,782,409	H112L	probably damaging	Het
Cfap61	C	T	2: 145,947,133	T19M	probably benign	Het
Clca3a1	A	G	3: 144,758,060	V152A	probably benign	Het
Cnot10	G	T	9: 114,632,723	T24K	probably damaging	Het
Cntnap5b	T	A	1: 100,379,075	I839N	possibly damaging	Het
Cyp4f13	A	T	17: 32,929,873	D299E	probably damaging	Het
Dclk1	A	G	3: 55,487,811	E128G	probably damaging	Het
Dgcr8	T	C	16: 18,284,410	T3A	probably damaging	Het
Dld	A	C	12: 31,344,848	I58S	probably damaging	Het
Dlg5	T	A	14: 24,190,438	R248S	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Faf1	C	T	4: 109,861,815	L373F	probably damaging	Het
Fam159a	A	T	4: 108,367,855	I170N	probably damaging	Het
Fam171b	C	T	2: 83,876,698	T304I	probably benign	Het
Fcgrt	A	T	7: 45,102,198		probably null	Het
Gimap9	T	C	6: 48,678,351	W291R	probably damaging	Het
Gm4847	G	A	1: 166,630,323	A487V	probably damaging	Het
Gria4	T	A	9: 4,420,199	I888F	probably benign	Het
Hapln2	T	A	3: 88,023,293	I224F	probably damaging	Het
Herc1	T	G	9: 66,376,381	L332R	possibly damaging	Het
Hmgxb4	T	C	8: 75,023,299	V481A	probably benign	Het
Htr1d	T	C	4: 136,442,798	S113P	probably damaging	Het
Ift81	T	C	5: 122,551,100	Q651R	probably benign	Het
Il17ra	T	C	6: 120,475,273	S199P	probably damaging	Het
Itih2	T	C	2: 10,098,507	N723S	probably benign	Het
Jak1	A	T	4: 101,175,128	V427E	probably damaging	Het
Krt23	C	T	11: 99,485,758	D191N	probably damaging	Het
Lingo1	T	A	9: 56,619,650	I552F	possibly damaging	Het
Llgl2	G	A	11: 115,846,986	R199Q	probably benign	Het
Lrrc37a	G	T	11: 103,501,216	Q1128K	possibly damaging	Het
Lrrc74a	T	C	12: 86,736,489	V36A	probably benign	Het
M1ap	T	A	6: 83,003,896	D254E	possibly damaging	Het
Mal2	C	T	15: 54,571,398		probably benign	Het
Mbnl2	A	G	14: 120,385,421	T124A	probably benign	Het
Nfatc1	A	G	18: 80,712,670	S33P	probably benign	Het
Nfkbid	A	G	7: 30,425,737	N253S	probably damaging	Het
Ngfr	T	A	11: 95,574,441	I194F	probably benign	Het
Nhsl1	A	G	10: 18,470,041		probably benign	Het
Nol9	T	A	4: 152,041,234	I214N	possibly damaging	Het
Olfr1047	T	A	2: 86,228,234	T246S	possibly damaging	Het
Olfr477	T	C	7: 107,991,100	L245P	probably damaging	Het
Olfr98	A	G	17: 37,262,744	S307P	probably benign	Het
Pax3	C	T	1: 78,192,549	S160N	possibly damaging	Het
Pde3b	A	G	7: 114,523,032		probably null	Het
Pde5a	A	C	3: 122,729,307	E21A	probably benign	Het
Plcxd1	A	G	5: 110,102,603	E270G	probably damaging	Het
Plxna1	T	A	6: 89,356,604	K348*	probably null	Het
Prpmp5	T	A	6: 132,312,729	H44L	unknown	Het
Psg21	G	T	7: 18,655,001	D55E	possibly damaging	Het
Rasa1	C	A	13: 85,233,695	A493S	probably benign	Het
Raver2	A	G	4: 101,133,617	I396V	probably benign	Het
Rpa2	A	G	4: 132,775,020	K138E	probably benign	Het
Rsad1	T	C	11: 94,548,236	N133D	probably damaging	Het
Rusc1	T	C	3: 89,091,881	D198G	probably benign	Het
Samsn1	A	T	16: 75,870,915	Y258N	probably damaging	Het
Scap	A	G	9: 110,374,067	N270D	probably benign	Het
Smpd4	T	C	16: 17,632,013	Y200H	probably damaging	Het
Steap2	A	G	5: 5,675,881	V381A	probably damaging	Het
Syk	C	T	13: 52,611,053	T72I	probably damaging	Het
Tbc1d14	T	C	5: 36,571,884	D66G	possibly damaging	Het
Tcp11	A	G	17: 28,071,717	Y223H	probably benign	Het
Timm9	A	G	12: 71,126,350	S8P	probably benign	Het
Tmpo	T	C	10: 91,164,207		probably null	Het
Vezf1	T	C	11: 88,076,186	M81T	probably benign	Het
Vipr1	T	A	9: 121,664,653	W257R	probably damaging	Het
Vmn1r237	G	A	17: 21,314,294	G93D	probably damaging	Het
Vmn2r6	A	G	3: 64,538,003	V678A	probably benign	Het
Vmn2r85	T	C	10: 130,425,461	T336A	possibly damaging	Het
Xpnpep3	C	A	15: 81,438,099	D296E	probably benign	Het
Zfp35	C	A	18: 24,004,061	H487Q	probably benign	Het
Zfp606	A	T	7: 12,494,001	Y625F	probably damaging	Het
Zfp677	A	G	17: 21,397,268	T196A	possibly damaging	Het
Zmym1	T	C	4: 127,047,884	I904V	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	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
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
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
RF008:Dennd1b	UTSW	1	139053397	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGCAGAGAATTATATGTAGTATGTGG -3'
(R):5'- ACTAAACCGGGATGCATGTAC -3'

Sequencing Primer
(F):5'- AACATGATTCCTATGGTTGT -3'
(R):5'- CCGGGATGCATGTACACTAACTTTTG -3'

Posted On

2018-02-27