Mutagenetix > Incidental Mutations

Incidental Mutation 'R1703:Dennd1b'

189854

Institutional Source

Beutler Lab

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN/MADD domain containing 1B

Synonyms

4632404N19Rik, 6820401H01Rik, 4930467M19Rik, F730008N07Rik

MMRRC Submission

039736-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138963435-139178960 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 139169754 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127580 (fasta)

Gene Model

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

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

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: 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

Meta Mutation Damage Score

0.9486

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,702	Y401*	probably null	Het
4932415M13Rik	C	A	17: 53,725,037		noncoding transcript	Het
Acoxl	T	A	2: 127,978,772	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,677,614	C915R	probably damaging	Het
Adgra3	C	T	5: 50,006,775	M287I	probably benign	Het
Afg1l	T	G	10: 42,400,399	D250A	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Amfr	T	C	8: 93,974,243	T530A	probably benign	Het
Ank2	C	T	3: 126,929,766	V971M	probably damaging	Het
App	A	G	16: 84,965,768	S656P	probably damaging	Het
Arid5a	T	A	1: 36,319,575		probably null	Het
Asic5	T	A	3: 81,999,722	V60D	possibly damaging	Het
Atm	G	T	9: 53,500,700	H1019N	probably benign	Het
Btbd11	A	G	10: 85,387,384	D19G	unknown	Het
Cep250	A	G	2: 155,965,546	K277R	probably benign	Het
Chrna7	C	T	7: 63,099,507	R409H	probably damaging	Het
Chrng	A	T	1: 87,210,906	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,245,819	S199G	probably benign	Het
Clstn2	A	T	9: 97,458,237	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,233,838		probably benign	Het
Cyp2c69	T	A	19: 39,876,366	I223F	probably benign	Het
Dnah17	A	T	11: 118,026,749	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,323,451	M506V	probably benign	Het
Ecsit	A	G	9: 22,074,811	V173A	probably damaging	Het
Fam13b	T	C	18: 34,451,439		probably null	Het
Fgl2	T	A	5: 21,372,732	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,619,172	R503H	probably damaging	Het
Gm884	C	T	11: 103,540,874	V1372I	probably benign	Het
Gramd1a	C	T	7: 31,139,534	V247M	possibly damaging	Het
Grip2	A	T	6: 91,777,398	I632N	probably damaging	Het
Hspg2	T	C	4: 137,559,151	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,789,892	Y660C	probably benign	Het
Isg15	T	C	4: 156,199,808	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,910,500	D388E	probably benign	Het
Jhy	T	C	9: 40,944,837	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,205,326	T931M	probably damaging	Het
Kif21a	A	G	15: 90,949,047		probably null	Het
Lama2	A	T	10: 27,266,671	Y604N	probably damaging	Het
Lrp3	T	G	7: 35,213,161	S34R	possibly damaging	Het
Lyn	T	C	4: 3,738,867		probably null	Het
Mroh8	C	T	2: 157,271,976	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,148,093	F977L	probably damaging	Het
Nol8	C	T	13: 49,667,457	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,208,417	N169K	probably damaging	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr1188	T	A	2: 88,560,255	M262K	possibly damaging	Het
Oplah	A	G	15: 76,296,667	Y1279H	probably benign	Het
Pcsk5	T	C	19: 17,752,094	N129S	probably benign	Het
Pcyt2	G	T	11: 120,613,068	P185T	probably benign	Het
Pdlim2	A	G	14: 70,174,335		probably null	Het
Pgs1	T	C	11: 118,014,728		probably benign	Het
Qprt	A	G	7: 127,108,171	V251A	probably benign	Het
Rasal2	A	C	1: 157,157,600	L834R	probably damaging	Het
Reg1	T	C	6: 78,428,449	C161R	probably damaging	Het
Rp1	T	A	1: 4,345,169	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,244,050	D360G	possibly damaging	Het
Sart3	C	A	5: 113,752,219	V482F	probably benign	Het
Scarf2	A	G	16: 17,802,849	E127G	probably damaging	Het
Serinc5	T	C	13: 92,688,797	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,993,517	R57L	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sgca	A	T	11: 94,969,391	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,454,575	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 83,030,043		noncoding transcript	Het
Spam1	A	T	6: 24,796,257	D69V	probably damaging	Het
Tanc1	A	G	2: 59,843,021	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,239,215	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tlx1	A	G	19: 45,156,004	D55G	possibly damaging	Het
Tram2	G	T	1: 21,004,234	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,658	Y325C	probably damaging	Het
Ubac2	T	A	14: 121,905,170	S27T	probably benign	Het
Utrn	G	A	10: 12,727,729		probably benign	Het
Vnn3	A	T	10: 23,865,930	M378L	probably benign	Het
Vps18	T	A	2: 119,289,057	D6E	probably benign	Het
Xkr5	T	A	8: 18,939,118	I253F	probably benign	Het
Yeats4	A	T	10: 117,215,723	C210S	probably benign	Het
Zdhhc20	A	G	14: 57,839,088		probably null	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
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
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
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'- GGAACTGTCAGGATTCAGTCAGTGC -3'
(R):5'- CCTTCTCCCAGGGAACAAAAGTCG -3'

Sequencing Primer
(F):5'- GGATTCAGTCAGTGCTCCCC -3'
(R):5'- CGACAGATCCTCTGACTGAAGTG -3'

Posted On

2014-05-14