Mutagenetix > Incidental Mutations

Incidental Mutation 'R0018:Dennd1a'

8400

Institutional Source

Beutler Lab

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN/MADD domain containing 1A

Synonyms

6030446I19Rik

MMRRC Submission

038313-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R0018 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37798991-38287390 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37858460 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 336 (T336S)

Ref Sequence

ENSEMBL: ENSMUSP00000099848 (fasta)

Gene Model

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

AlphaFold

Q8K382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102787
AA Change: T336S

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: T336S

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 benign
Transcript: ENSMUST00000140552

Meta Mutation Damage Score

0.1328

Coding Region Coverage

1x: 82.8%
3x: 76.3%
10x: 59.3%
20x: 41.5%

Validation Efficiency

90% (80/89)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b4	T	A	1: 133,717,871	I982F	probably damaging	Het
BC024139	G	A	15: 76,120,887	Q592*	probably null	Het
Capn7	T	A	14: 31,354,112	C290*	probably null	Het
Celsr1	T	A	15: 86,031,042	D910V	possibly damaging	Het
Cpne2	T	A	8: 94,556,053	C59S	possibly damaging	Het
Cyp2b13	G	A	7: 26,085,950	R248H	probably benign	Het
Drc7	A	G	8: 95,074,234	Y628C	probably damaging	Het
Dse	A	G	10: 34,153,468	V542A	probably benign	Het
Gria4	A	G	9: 4,432,843	L780P	possibly damaging	Het
Gsx2	A	G	5: 75,077,167	K260R	probably damaging	Het
Kat6a	A	G	8: 22,929,273	D684G	possibly damaging	Het
Kif27	T	G	13: 58,288,053	I1309L	probably benign	Het
Me2	A	T	18: 73,791,852	F265I	possibly damaging	Het
Myo9a	A	T	9: 59,871,724	T1588S	probably benign	Het
Neu4	T	A	1: 94,025,338	D476E	probably benign	Het
Nlrp9c	T	A	7: 26,371,998	Q895L	possibly damaging	Het
Nudt8	C	T	19: 4,001,152		probably benign	Het
Ppfia2	A	G	10: 106,842,786		probably benign	Het
Prkdc	T	C	16: 15,726,542	Y1799H	probably benign	Het
Psmc1	T	C	12: 100,116,692		probably benign	Het
Pus3	A	G	9: 35,566,624	D384G	probably benign	Het
Rasa2	A	G	9: 96,571,963	S307P	probably damaging	Het
Rbpms2	A	G	9: 65,651,078	D142G	probably damaging	Het
Slc13a5	T	C	11: 72,266,475	I31V	probably benign	Het
Slc15a4	A	T	5: 127,602,010	I422N	probably damaging	Het
Slc26a6	G	T	9: 108,858,922		probably null	Het
Ufm1	A	T	3: 53,859,196	I79N	probably benign	Het
Xdh	C	T	17: 73,925,025	R230H	probably benign	Het
Zfp418	A	T	7: 7,182,450	S471C	probably benign	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
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
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

2012-11-27