Mutagenetix > Incidental Mutation

Incidental Mutation 'R5586:Dennd5a'

438716

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN/MADD domain containing 5A

Synonyms

1500012B19Rik, Rab6ip1, ORF37

MMRRC Submission

043140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R5586 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109893780-109960470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109905721 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 861 (R861G)

Ref Sequence

ENSEMBL: ENSMUSP00000079295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080437] [ENSMUST00000106722]

AlphaFold

Q6PAL8

PDB Structure

Strucure of RAB6(GTP)-R6IP1 complex [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080437
AA Change: R861G

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: R861G

Domain	Start	End	E-Value	Type
uDENN	12	138	7.71e-45	SMART
DENN	202	390	9.28e-80	SMART
dDENN	512	588	4.06e-21	SMART
low complexity region	832	844	N/A	INTRINSIC
RUN	884	947	4.9e-22	SMART
Pfam:PLAT	956	1062	1e-15	PFAM
RUN	1218	1278	3.69e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106722
AA Change: R837G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: R837G

Domain	Start	End	E-Value	Type
uDENN	12	114	2.32e-39	SMART
DENN	178	366	9.28e-80	SMART
dDENN	488	564	4.06e-21	SMART
low complexity region	808	820	N/A	INTRINSIC
RUN	860	923	4.9e-22	SMART
Pfam:PLAT	932	1038	2.8e-18	PFAM
RUN	1194	1254	3.69e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154002

Meta Mutation Damage Score

0.1221

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

Validation Efficiency

98% (101/103)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DENN-domain-containing protein that functions as a RAB-activating guanine nucleotide exchange factor (GEF). This protein catalyzes the conversion of GDP to GTP and thereby converts inactive GDP-bound Rab proteins into their active GTP-bound form. The encoded protein is recruited by RAB6 onto Golgi membranes and is therefore referred to as RAB6-interacting protein 1. This protein binds with RAB39 as well. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Mutations in this gene are associated with early infantile epileptic encephalopathy-49. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,577,728		noncoding transcript	Het
Aaas	A	T	15: 102,346,676		probably null	Het
Abcc3	G	A	11: 94,364,421	R600W	probably damaging	Het
Abhd13	A	T	8: 9,988,318	Q305L	probably benign	Het
Adcy5	A	T	16: 35,157,116	I340F	probably damaging	Het
Adgrl3	T	A	5: 81,724,147	I964N	probably damaging	Het
Anks1b	T	A	10: 90,077,064	H316Q	probably damaging	Het
Ap3d1	A	T	10: 80,719,130	F454I	possibly damaging	Het
Apol7c	T	C	15: 77,526,399	R116G	possibly damaging	Het
Arhgap5	A	G	12: 52,519,912	E1222G	possibly damaging	Het
AW551984	A	G	9: 39,591,263	V673A	probably benign	Het
Baiap2l1	A	G	5: 144,282,139	S220P	probably damaging	Het
Bcl6	A	G	16: 23,973,176	F143L	probably benign	Het
Calb1	A	T	4: 15,900,811	T165S	probably benign	Het
Ccdc66	C	A	14: 27,506,711	G6C	probably damaging	Het
Ccdc88a	A	G	11: 29,503,484	I344V	probably benign	Het
Cdh19	T	A	1: 110,929,857	D249V	probably damaging	Het
Ces1c	T	A	8: 93,127,599	T103S	probably benign	Het
Cfap54	T	A	10: 92,972,611	K1401*	probably null	Het
Copa	T	A	1: 172,105,222	N371K	probably damaging	Het
Cyp2b10	A	T	7: 25,917,012	Y348F	probably damaging	Het
Dhx8	T	C	11: 101,733,036		probably benign	Het
Dido1	C	T	2: 180,659,652	W2153*	probably null	Het
Dlgap1	T	A	17: 70,818,161	V969D	probably damaging	Het
Dvl3	A	G	16: 20,517,289	D32G	probably damaging	Het
Epdr1	T	C	13: 19,594,548	D24G	probably benign	Het
Etnk2	T	A	1: 133,379,305		probably null	Het
Fam129a	C	T	1: 151,717,556	T664I	probably benign	Het
Fhad1	C	T	4: 141,905,131	M1232I	probably benign	Het
Gcnt2	A	C	13: 40,860,953	E200A	probably damaging	Het
Gm12800	T	A	4: 101,910,120	F189I	probably benign	Het
Gm5174	A	G	10: 86,656,545		noncoding transcript	Het
Gm6408	T	A	5: 146,484,457	F299I	possibly damaging	Het
Gpr85	G	T	6: 13,836,001	Y301*	probably null	Het
Gucy2e	G	T	11: 69,226,256	P780T	probably damaging	Het
Icam5	A	T	9: 21,034,820	N316I	probably damaging	Het
Ifit1bl1	C	T	19: 34,594,277	R260Q	probably damaging	Het
Il1r1	A	C	1: 40,225,251		probably benign	Het
Kif3c	A	T	12: 3,389,656	I86F	probably benign	Het
Klhdc2	A	G	12: 69,307,693		probably null	Het
Mast2	A	G	4: 116,435,563	L9P	probably damaging	Het
Mcoln1	G	T	8: 3,510,389	C316F	probably damaging	Het
Mon1a	A	T	9: 107,898,695	D4V	probably damaging	Het
Ms4a18	T	A	19: 11,013,674	M19L	probably benign	Het
Nbea	T	C	3: 55,631,971	K2790E	probably benign	Het
Noc3l	C	T	19: 38,814,695	E167K	possibly damaging	Het
Nol10	G	A	12: 17,416,828	E570K	possibly damaging	Het
Nr2e3	T	C	9: 59,949,201	R69G	probably damaging	Het
Obscn	G	A	11: 59,001,468	R1358*	probably null	Het
Olfr115	A	T	17: 37,610,254	F166I	probably damaging	Het
Olfr1472	A	T	19: 13,454,382	M45K	probably benign	Het
Olfr1535	C	A	13: 21,555,096	V309F	probably damaging	Het
Olfr675	A	G	7: 105,024,221	I253T	probably damaging	Het
Pak2	A	T	16: 32,041,519	D175E	probably benign	Het
Pccb	C	T	9: 100,985,803	V357I	possibly damaging	Het
Pcdhb4	C	T	18: 37,308,981	P448L	probably damaging	Het
Pcdhb9	A	G	18: 37,401,114	M54V	probably benign	Het
Ppp3cb	A	G	14: 20,520,690		probably benign	Het
Ppp4r1	A	G	17: 65,824,568	D452G	probably benign	Het
Prmt3	T	A	7: 49,826,751	D369E	probably damaging	Het
Psmd12	T	A	11: 107,486,475	V120D	probably benign	Het
Ptprb	T	C	10: 116,353,827	L1797P	probably damaging	Het
Ptprm	A	G	17: 66,920,196	S653P	probably damaging	Het
Pxdn	T	A	12: 30,003,142	V926D	probably damaging	Het
Retreg3	T	G	11: 101,106,339	Q105P	probably damaging	Het
Sacs	A	T	14: 61,206,441	R1979*	probably null	Het
Scn2a	T	A	2: 65,707,295	L696*	probably null	Het
Sema3c	A	T	5: 17,711,424	N465Y	probably damaging	Het
Slc25a32	A	T	15: 39,099,913	V171E	possibly damaging	Het
Slc30a7	C	T	3: 115,990,051	V158I	probably benign	Het
Slc44a5	G	A	3: 154,270,165		probably benign	Het
Slc4a8	A	G	15: 100,787,164	D140G	probably damaging	Het
Slc7a11	G	A	3: 50,443,083	S60L	possibly damaging	Het
Spryd3	A	T	15: 102,131,937	H59Q	probably benign	Het
Sqstm1	T	C	11: 50,203,022	D256G	probably damaging	Het
Sst	A	T	16: 23,889,737	S115T	probably damaging	Het
Surf1	T	C	2: 26,915,951		probably benign	Het
Synj1	A	T	16: 91,009,977		probably benign	Het
Tet1	C	A	10: 62,878,294	C574F	probably damaging	Het
Thnsl1	T	A	2: 21,212,390	Y318*	probably null	Het
Tmem110	A	G	14: 30,870,819	K166E	probably damaging	Het
Tomm70a	A	G	16: 57,122,130	E90G	probably damaging	Het
Treml4	A	G	17: 48,264,899	D110G	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	C	T	18: 63,664,325	G283D	probably damaging	Het
Uba6	T	C	5: 86,135,047	D559G	probably damaging	Het
Usp4	T	C	9: 108,356,462	V94A	possibly damaging	Het
Vmn2r25	A	C	6: 123,825,296	C549W	probably damaging	Het
Vmn2r59	G	T	7: 42,045,681	Q436K	probably benign	Het
Wdr70	A	T	15: 7,884,288	Y627N	possibly damaging	Het
Xpr1	T	C	1: 155,312,863	I344V	probably benign	Het
Zfp423	T	A	8: 87,859,340	Q61L	possibly damaging	Het

Other mutations in Dennd5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Dennd5a	APN	7	109908372	missense	probably benign
IGL01338:Dennd5a	APN	7	109919404	missense	possibly damaging	0.92
IGL01618:Dennd5a	APN	7	109934095	missense	probably damaging	1.00
IGL02047:Dennd5a	APN	7	109934784	missense	possibly damaging	0.92
IGL02277:Dennd5a	APN	7	109897969	missense	possibly damaging	0.61
IGL02492:Dennd5a	APN	7	109933637	missense	probably benign
IGL02697:Dennd5a	APN	7	109894781	missense	probably damaging	1.00
IGL02935:Dennd5a	APN	7	109921307	missense	possibly damaging	0.80
IGL02986:Dennd5a	APN	7	109935524	missense	probably benign
IGL03088:Dennd5a	APN	7	109908381	missense	probably damaging	1.00
IGL03156:Dennd5a	APN	7	109919255	splice site	probably benign
IGL03181:Dennd5a	APN	7	109933658	missense	probably damaging	1.00
big_pal	UTSW	7	109919423	nonsense	probably null
Celestial	UTSW	7	109901089	missense	probably damaging	1.00
PIT4434001:Dennd5a	UTSW	7	109933624	missense	probably damaging	1.00
R0055:Dennd5a	UTSW	7	109899791	missense	possibly damaging	0.72
R0055:Dennd5a	UTSW	7	109899791	missense	possibly damaging	0.72
R0092:Dennd5a	UTSW	7	109899806	missense	possibly damaging	0.95
R0111:Dennd5a	UTSW	7	109934754	missense	probably damaging	1.00
R0517:Dennd5a	UTSW	7	109934761	missense	probably damaging	1.00
R0546:Dennd5a	UTSW	7	109921426	missense	probably benign	0.01
R0811:Dennd5a	UTSW	7	109933613	missense	possibly damaging	0.93
R0812:Dennd5a	UTSW	7	109933613	missense	possibly damaging	0.93
R0827:Dennd5a	UTSW	7	109899731	missense	probably damaging	1.00
R0831:Dennd5a	UTSW	7	109934754	missense	probably damaging	1.00
R1075:Dennd5a	UTSW	7	109918601	missense	probably benign
R1115:Dennd5a	UTSW	7	109918761	missense	probably damaging	1.00
R1128:Dennd5a	UTSW	7	109921334	nonsense	probably null
R1300:Dennd5a	UTSW	7	109919407	missense	probably benign
R1698:Dennd5a	UTSW	7	109917380	splice site	probably null
R1711:Dennd5a	UTSW	7	109918712	missense	probably benign	0.00
R1771:Dennd5a	UTSW	7	109918686	missense	probably damaging	0.98
R1803:Dennd5a	UTSW	7	109898613	missense	probably benign	0.00
R2064:Dennd5a	UTSW	7	109898693	splice site	probably benign
R2176:Dennd5a	UTSW	7	109905120	splice site	probably null
R2182:Dennd5a	UTSW	7	109933994	missense	probably benign	0.03
R2852:Dennd5a	UTSW	7	109933671	missense	probably damaging	1.00
R2853:Dennd5a	UTSW	7	109933671	missense	probably damaging	1.00
R3035:Dennd5a	UTSW	7	109921352	missense	probably benign	0.00
R3835:Dennd5a	UTSW	7	109934242	missense	probably benign	0.00
R3953:Dennd5a	UTSW	7	109905699	missense	probably benign	0.44
R3954:Dennd5a	UTSW	7	109905699	missense	probably benign	0.44
R3955:Dennd5a	UTSW	7	109905699	missense	probably benign	0.44
R3957:Dennd5a	UTSW	7	109905699	missense	probably benign	0.44
R4014:Dennd5a	UTSW	7	109935481	critical splice donor site	probably null
R4166:Dennd5a	UTSW	7	109926825	critical splice donor site	probably null
R4362:Dennd5a	UTSW	7	109896343	missense	probably damaging	1.00
R4567:Dennd5a	UTSW	7	109899735	missense	probably benign	0.06
R4700:Dennd5a	UTSW	7	109921198	missense	probably benign	0.01
R4734:Dennd5a	UTSW	7	109896336	missense	probably damaging	0.96
R4914:Dennd5a	UTSW	7	109901089	missense	probably damaging	1.00
R4915:Dennd5a	UTSW	7	109901089	missense	probably damaging	1.00
R4918:Dennd5a	UTSW	7	109901089	missense	probably damaging	1.00
R4992:Dennd5a	UTSW	7	109894712	missense	probably damaging	0.98
R5011:Dennd5a	UTSW	7	109914776	missense	possibly damaging	0.89
R5013:Dennd5a	UTSW	7	109914776	missense	possibly damaging	0.89
R5034:Dennd5a	UTSW	7	109899797	missense	probably damaging	0.98
R5194:Dennd5a	UTSW	7	109933729	missense	probably damaging	1.00
R5359:Dennd5a	UTSW	7	109897962	missense	probably damaging	1.00
R5430:Dennd5a	UTSW	7	109934240	missense	probably damaging	1.00
R5607:Dennd5a	UTSW	7	109919423	nonsense	probably null
R5608:Dennd5a	UTSW	7	109919423	nonsense	probably null
R5783:Dennd5a	UTSW	7	109894636	missense	probably damaging	0.97
R5866:Dennd5a	UTSW	7	109919360	missense	probably benign	0.00
R5890:Dennd5a	UTSW	7	109934221	missense	probably benign	0.00
R6053:Dennd5a	UTSW	7	109933745	missense	probably damaging	1.00
R6247:Dennd5a	UTSW	7	109898682	missense	probably damaging	1.00
R6362:Dennd5a	UTSW	7	109934265	nonsense	probably null
R6446:Dennd5a	UTSW	7	109894666	missense	probably damaging	1.00
R6894:Dennd5a	UTSW	7	109901118	missense	probably damaging	1.00
R7061:Dennd5a	UTSW	7	109905179	missense	probably benign	0.19
R7115:Dennd5a	UTSW	7	109894754	missense	probably damaging	1.00
R7133:Dennd5a	UTSW	7	109896242	critical splice donor site	probably null
R7302:Dennd5a	UTSW	7	109905699	missense	probably damaging	0.98
R7339:Dennd5a	UTSW	7	109901159	missense	probably damaging	1.00
R7704:Dennd5a	UTSW	7	109896967	missense	possibly damaging	0.85
R7756:Dennd5a	UTSW	7	109921507	missense	possibly damaging	0.95
R7838:Dennd5a	UTSW	7	109933989	missense	probably benign
R7873:Dennd5a	UTSW	7	109926934	missense	probably damaging	1.00
R8124:Dennd5a	UTSW	7	109897935	missense	probably damaging	1.00
R8309:Dennd5a	UTSW	7	109901125	missense	probably damaging	1.00
R8345:Dennd5a	UTSW	7	109905270	missense	possibly damaging	0.55
R8560:Dennd5a	UTSW	7	109934691	critical splice donor site	probably null
R9104:Dennd5a	UTSW	7	109898506	critical splice donor site	probably null
R9218:Dennd5a	UTSW	7	109908385	missense	probably damaging	1.00
R9348:Dennd5a	UTSW	7	109899723	critical splice donor site	probably null
R9348:Dennd5a	UTSW	7	109899735	missense	probably benign	0.00
R9566:Dennd5a	UTSW	7	109934047	missense	probably benign	0.01
R9608:Dennd5a	UTSW	7	109921506	missense	probably damaging	1.00
R9756:Dennd5a	UTSW	7	109896967	missense	possibly damaging	0.85
R9800:Dennd5a	UTSW	7	109901167	missense	probably benign	0.40
Z1088:Dennd5a	UTSW	7	109894747	missense	possibly damaging	0.73
Z1088:Dennd5a	UTSW	7	109905273	missense	probably damaging	1.00
Z1177:Dennd5a	UTSW	7	109934024	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACCTATGCTCTTTCTCCTGGTAGAG -3'
(R):5'- TGATGGAGCCAATTGTTTGC -3'

Sequencing Primer
(F):5'- CTCCTGGTAGAGTCTGCAAAATG -3'
(R):5'- AGCCAATTGTTTGCTGTAGC -3'

Posted On

2016-10-26