Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02516:Dennd1a'

296802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN/MADD domain containing 1A

Synonyms

6030446I19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

IGL02516

Quality Score

Status

Chromosome

Chromosomal Location

37798991-38287390 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 37852394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000136460] [ENSMUST00000140552]

AlphaFold

Q8K382

Predicted Effect

probably null
Transcript: ENSMUST00000102787

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392

Domain	Start	End	E-Value	Type
uDENN	9	91	1.44e-26	SMART
DENN	92	273	2.09e-73	SMART
dDENN	304	371	1.37e-18	SMART
low complexity region	497	508	N/A	INTRINSIC
low complexity region	689	702	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	772	786	N/A	INTRINSIC
low complexity region	801	815	N/A	INTRINSIC
low complexity region	822	856	N/A	INTRINSIC
low complexity region	952	972	N/A	INTRINSIC
low complexity region	991	1004	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000136460

SMART Domains

Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392

Domain	Start	End	E-Value	Type
low complexity region	60	71	N/A	INTRINSIC
low complexity region	102	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140552

Coding Region Coverage

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 DENND1A, 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]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	C	T	8: 24,898,596	S364N	probably damaging	Het
AI314180	T	C	4: 58,877,102	E111G	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
App	T	C	16: 84,955,417	T743A	probably damaging	Het
Armc3	A	G	2: 19,300,506	K692E	possibly damaging	Het
Arpp21	T	C	9: 112,185,661	N25S	probably damaging	Het
Avpr1b	G	A	1: 131,600,629	V297I	probably damaging	Het
Bpi	A	G	2: 158,267,731	I200V	possibly damaging	Het
Cacna2d4	C	T	6: 119,271,870		probably benign	Het
Cbarp	A	G	10: 80,135,545	Y149H	probably damaging	Het
Ccdc85c	T	C	12: 108,274,901	N78S	unknown	Het
Cdcp1	G	T	9: 123,173,637	L790M	possibly damaging	Het
Cdkn2d	T	A	9: 21,289,143	I111F	probably benign	Het
Ctsr	A	G	13: 61,163,178	V18A	probably benign	Het
Dapk1	A	G	13: 60,696,347	D60G	probably damaging	Het
Daw1	A	C	1: 83,209,228	N253T	probably benign	Het
Dcaf7	T	A	11: 106,051,872	I215N	probably damaging	Het
Ddc	A	C	11: 11,829,125	L333R	probably damaging	Het
Dnah10	C	A	5: 124,787,331	T2200K	probably damaging	Het
Dock6	T	C	9: 21,802,585	Y1883C	probably damaging	Het
Eif2ak4	T	A	2: 118,436,254	I752N	probably damaging	Het
Fcho2	A	G	13: 98,730,212	I740T	probably benign	Het
Flnc	A	G	6: 29,450,841	D1496G	probably damaging	Het
Fn1	A	G	1: 71,637,323	V583A	possibly damaging	Het
Grasp	G	A	15: 101,229,051	V137I	probably damaging	Het
Greb1l	A	C	18: 10,537,064	T1010P	probably benign	Het
Hs3st6	T	C	17: 24,758,131	L195P	probably damaging	Het
Hyi	A	G	4: 118,362,483	E239G	probably damaging	Het
Ighv2-3	G	T	12: 113,611,198	Y112*	probably null	Het
Ints3	A	G	3: 90,403,108	F495S	probably damaging	Het
Itih2	T	A	2: 10,097,917	H802L	probably benign	Het
Jag2	C	T	12: 112,910,566	V990M	probably damaging	Het
Kat6b	T	C	14: 21,609,868		probably benign	Het
Krtap4-8	C	T	11: 99,780,342		probably benign	Het
Lhx4	A	G	1: 155,702,257	S380P	probably damaging	Het
Morn3	C	A	5: 123,037,300	E33*	probably null	Het
Mug2	C	T	6: 122,070,843	A771V	probably damaging	Het
N4bp3	A	T	11: 51,644,334	S343T	probably benign	Het
Nlrp1a	T	C	11: 71,114,460	N643S	probably damaging	Het
Olfr15	A	C	16: 3,839,336	D121A	probably damaging	Het
Olfr767	T	A	10: 129,079,793	M57L	possibly damaging	Het
Olfr93	T	A	17: 37,151,272	R79S	possibly damaging	Het
Phc3	A	G	3: 30,948,793	F192S	probably damaging	Het
Pigq	C	T	17: 25,937,247	R69H	probably benign	Het
Plk3	A	G	4: 117,131,989	C222R	probably damaging	Het
Pomt2	T	C	12: 87,119,646	T490A	probably benign	Het
Prss29	T	C	17: 25,320,901	I91T	probably damaging	Het
Ralgapb	A	T	2: 158,465,815		probably benign	Het
Sccpdh	G	A	1: 179,681,691	G75D	probably damaging	Het
Serpine2	T	C	1: 79,794,997		probably benign	Het
Sfr1	T	G	19: 47,732,990		probably null	Het
Slc22a23	C	A	13: 34,203,955	C386F	probably benign	Het
Slc22a27	T	C	19: 7,864,811	K433R	probably damaging	Het
Slc39a12	T	C	2: 14,400,335	L246P	probably damaging	Het
Slc4a11	A	G	2: 130,691,393	I191T	possibly damaging	Het
Slc9c1	A	G	16: 45,577,875	N668D	probably damaging	Het
Supt16	A	T	14: 52,183,964	D41E	possibly damaging	Het
Ugt2b37	A	G	5: 87,240,882	S491P	probably damaging	Het
Urb1	G	T	16: 90,772,695	T1381N	possibly damaging	Het
Usp8	A	G	2: 126,742,174	I423M	probably benign	Het
Vmn1r191	T	A	13: 22,179,540	I15F	probably benign	Het
Zbtb5	A	T	4: 44,993,798	Y529N	probably damaging	Het
Zfp541	T	A	7: 16,082,993		probably null	Het

Other mutations in Dennd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd1a	APN	2	38243442	nonsense	probably null
IGL00490:Dennd1a	APN	2	37801152	missense	probably damaging	1.00
IGL00839:Dennd1a	APN	2	37816982	missense	probably benign	0.30
IGL01065:Dennd1a	APN	2	37844905	missense	probably benign	0.02
IGL01621:Dennd1a	APN	2	37844809	missense	probably damaging	1.00
IGL01792:Dennd1a	APN	2	38126580	missense	probably damaging	1.00
IGL01799:Dennd1a	APN	2	38048742	missense	probably damaging	1.00
contract	UTSW	2	37852441	missense	possibly damaging	0.89
R0018:Dennd1a	UTSW	2	37858460	missense	possibly damaging	0.72
R0018:Dennd1a	UTSW	2	37858460	missense	possibly damaging	0.72
R0144:Dennd1a	UTSW	2	38126640	missense	probably damaging	0.96
R0784:Dennd1a	UTSW	2	38021414	missense	probably damaging	1.00
R1199:Dennd1a	UTSW	2	37961716	missense	probably damaging	0.99
R1439:Dennd1a	UTSW	2	38043400	missense	probably damaging	1.00
R1563:Dennd1a	UTSW	2	37858429	missense	probably damaging	1.00
R1608:Dennd1a	UTSW	2	37852434	missense	probably benign	0.18
R1720:Dennd1a	UTSW	2	37800197	nonsense	probably null
R1967:Dennd1a	UTSW	2	37844833	missense	probably benign
R2570:Dennd1a	UTSW	2	37844783	missense	probably damaging	1.00
R3886:Dennd1a	UTSW	2	37858077	missense	possibly damaging	0.89
R4464:Dennd1a	UTSW	2	38243390	splice site	probably benign
R4890:Dennd1a	UTSW	2	38176226	intron	probably benign
R5395:Dennd1a	UTSW	2	37802128	missense	probably damaging	1.00
R5652:Dennd1a	UTSW	2	37801126	missense	probably benign	0.00
R5882:Dennd1a	UTSW	2	37961663	missense	probably damaging	1.00
R6285:Dennd1a	UTSW	2	37852441	missense	possibly damaging	0.89
R6520:Dennd1a	UTSW	2	37961747	splice site	probably null
R6934:Dennd1a	UTSW	2	37801213	missense	possibly damaging	0.62
R7053:Dennd1a	UTSW	2	37961654	missense	probably damaging	1.00
R7109:Dennd1a	UTSW	2	38048792	missense	probably damaging	1.00
R7204:Dennd1a	UTSW	2	38039203	missense	probably damaging	1.00
R7235:Dennd1a	UTSW	2	37801061	missense	probably benign
R7408:Dennd1a	UTSW	2	37852172	splice site	probably null
R7446:Dennd1a	UTSW	2	37816979	missense	possibly damaging	0.89
R7579:Dennd1a	UTSW	2	37858432	missense	probably damaging	0.99
R7645:Dennd1a	UTSW	2	38021363	missense	probably damaging	1.00
R7661:Dennd1a	UTSW	2	37844829	missense	probably benign
R8132:Dennd1a	UTSW	2	37858060	missense	probably damaging	1.00
R8305:Dennd1a	UTSW	2	37858081	missense	probably damaging	1.00
R8369:Dennd1a	UTSW	2	38048754	missense	probably damaging	1.00
R8418:Dennd1a	UTSW	2	37858391	missense	probably benign	0.36
R8438:Dennd1a	UTSW	2	37856138	missense	probably benign	0.08
R8544:Dennd1a	UTSW	2	37982908	splice site	probably null
R8997:Dennd1a	UTSW	2	37800485	missense	probably benign	0.14
R9052:Dennd1a	UTSW	2	38021451	missense	probably damaging	1.00
R9087:Dennd1a	UTSW	2	38021354	critical splice donor site	probably null
R9096:Dennd1a	UTSW	2	37800065	missense	probably damaging	1.00
R9346:Dennd1a	UTSW	2	38021435	missense	probably benign	0.12
Z1088:Dennd1a	UTSW	2	37800692	missense	probably benign
Z1177:Dennd1a	UTSW	2	37800257	missense	probably damaging	1.00

Posted On

2015-04-16