Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Dennd1a'

10113

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

Is this an essential gene?

Possibly essential (E-score: 0.633) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

37798991-38287390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37801152 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 251 (D251E)

Ref Sequence

ENSEMBL: ENSMUSP00000115527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050372] [ENSMUST00000102787] [ENSMUST00000136460]

Predicted Effect

probably benign
Transcript: ENSMUST00000050372

SMART Domains

Protein: ENSMUSP00000058007
Gene: ENSMUSG00000035403

Domain	Start	End	E-Value	Type
EGF	74	110	1.92e-7	SMART
EGF_CA	112	148	1.69e-12	SMART
EGF_CA	150	186	3.99e-14	SMART
EGF_CA	188	225	8.9e-12	SMART
EGF_CA	227	263	3.79e-6	SMART
EGF	268	322	1.32e-5	SMART
EGF_CA	324	360	5.96e-13	SMART
EGF_CA	362	398	2.54e-7	SMART
EGF	403	440	2.45e0	SMART
low complexity region	446	457	N/A	INTRINSIC
LamG	461	592	1.18e-6	SMART
EGF	612	645	4.59e-5	SMART
LamG	671	778	4.45e-2	SMART
EGF	813	846	5.2e-4	SMART
LamG	893	1019	1.68e-1	SMART
EGF	1056	1089	9.55e-3	SMART
EGF	1094	1127	9.85e-5	SMART
EGF	1134	1168	1.91e1	SMART
EGF	1173	1206	3.73e-5	SMART
transmembrane domain	1222	1244	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102787
AA Change: D645E

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: D645E

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 damaging
Transcript: ENSMUST00000136460
AA Change: D251E

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

SMART Domains

Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392
AA Change: D251E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137693

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Thg1l	T	C	11: 45,954,221	E8G	probably benign	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Dennd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd1a	APN	2	38243442	nonsense	probably null
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
IGL02516:Dennd1a	APN	2	37852394	critical splice donor site	probably null
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
Z1088:Dennd1a	UTSW	2	37800692	missense	probably benign
Z1177:Dennd1a	UTSW	2	37800257	missense	probably damaging	1.00

Posted On

2012-12-06