Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Dennd5a'

266091

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN/MADD domain containing 5A

Synonyms

1500012B19Rik, Rab6ip1, ORF37

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R2176 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

109893780-109960470 bp(-) (GRCm38)

Type of Mutation

splice site (50 bp from exon)

DNA Base Change (assembly)

C to A at 109905120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102333 (fasta)

Gene Model

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

AlphaFold

Q6PAL8

Predicted Effect

probably null
Transcript: ENSMUST00000080437

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901

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 null
Transcript: ENSMUST00000106722

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901

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: ENSMUST00000134331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154002

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,259,367		probably benign	Het
Adam1a	T	A	5: 121,519,586	Y548F	probably benign	Het
Armc9	T	C	1: 86,199,892	L83P	probably damaging	Het
BC051665	A	T	13: 60,784,530		probably benign	Het
Casp3	A	G	8: 46,629,756	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,888,089	M109I	probably benign	Het
Ccr6	T	A	17: 8,256,241	F93I	probably damaging	Het
Clvs2	T	C	10: 33,595,815	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,013,946	V171A	probably benign	Het
Dock2	T	A	11: 34,695,217	Y546F	probably benign	Het
Fat2	A	G	11: 55,267,575		probably null	Het
Focad	T	A	4: 88,279,244	Y625N	unknown	Het
Fyb	A	G	15: 6,579,954	K3E	probably damaging	Het
Gm14496	G	A	2: 181,991,337	D38N	probably benign	Het
Gm20403	T	C	12: 54,986,370	T54A	probably benign	Het
Gm9830	A	G	9: 44,464,259		noncoding transcript	Het
Hectd1	A	T	12: 51,745,494	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,738,272	L175S	probably benign	Het
Itgav	C	T	2: 83,803,255	R983C	probably damaging	Het
Kcna10	T	C	3: 107,194,716	V221A	probably damaging	Het
Kif13b	G	A	14: 64,669,671	V35I	probably benign	Het
Kif6	G	A	17: 49,755,230	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,632,393	T452A	probably benign	Het
Mllt1	A	G	17: 56,897,398	S382P	probably benign	Het
Myo15b	T	C	11: 115,866,572	W1083R	probably damaging	Het
Nell2	T	C	15: 95,435,157	I174V	probably damaging	Het
Noct	G	A	3: 51,249,696		probably null	Het
Nvl	A	T	1: 181,135,074		probably benign	Het
Ofcc1	T	C	13: 40,097,119	S574G	probably benign	Het
Olfr1248	A	T	2: 89,617,580	M204K	possibly damaging	Het
Olfr512	G	A	7: 108,714,132	V248I	probably damaging	Het
Olfr749	T	C	14: 50,736,224	M313V	probably benign	Het
Pip5k1a	A	T	3: 95,065,496	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,553,517	P785S	probably damaging	Het
Plcg2	A	G	8: 117,612,994	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,520,652	V337E	probably benign	Het
Prkg2	T	C	5: 98,966,509		probably benign	Het
Prl7a2	T	G	13: 27,659,106	Y238S	probably benign	Het
Psg28	T	A	7: 18,427,879	D233V	probably damaging	Het
Rad50	A	G	11: 53,698,209	C221R	probably benign	Het
Rgl3	A	G	9: 21,975,958		probably benign	Het
Rgsl1	T	A	1: 153,825,268		probably benign	Het
Ror1	C	A	4: 100,441,874	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,056,560	D360E	probably benign	Het
Ryr3	T	C	2: 112,666,335	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 117,662,877	F342I	possibly damaging	Het
Setd5	A	G	6: 113,151,153	R1337G	probably benign	Het
Siglecf	T	C	7: 43,351,716	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,262,560	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,364,162	M2280L	probably benign	Het
Syngr2	T	C	11: 117,812,580	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,641,409	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,609,308	E502G	probably damaging	Het
Tph1	T	A	7: 46,662,039	D88V	possibly damaging	Het
Tpr	A	G	1: 150,419,940	K979E	possibly damaging	Het
Usp47	A	G	7: 112,092,727	T799A	probably benign	Het
Utf1	A	G	7: 139,944,007	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,772,602	C242S	probably damaging	Het
Wrnip1	T	C	13: 32,820,240	I498T	probably damaging	Het
Ypel2	T	A	11: 86,971,873	H18L	probably benign	Het
Zan	T	G	5: 137,421,848	D2849A	unknown	Het
Zfp647	A	T	15: 76,911,660	F267I	probably damaging	Het
Zfp786	G	T	6: 47,820,971	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,820,694	A365S	probably benign	Het
Zswim5	T	C	4: 116,973,041	W538R	probably 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
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
R5586:Dennd5a	UTSW	7	109905721	missense	possibly damaging	0.72
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

Posted On

2015-02-05