Mutagenetix > Incidental Mutations

Incidental Mutation 'R7115:Dennd5a'

551725

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN/MADD domain containing 5A

Synonyms

1500012B19Rik, Rab6ip1, ORF37

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R7115 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109893780-109960470 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109894754 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1248 (Y1248H)

Ref Sequence

ENSEMBL: ENSMUSP00000079295 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000080437
AA Change: Y1248H

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

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: Y1248H

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 damaging
Transcript: ENSMUST00000106722
AA Change: Y1224H

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

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: Y1224H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	A	16: 14,437,725	I636N	probably benign	Het
Adam5	A	G	8: 24,781,696	I565T	possibly damaging	Het
Amd2	C	A	10: 35,711,637		probably benign	Het
Ap5m1	T	A	14: 49,086,270	Y472*	probably null	Het
Apcdd1	T	C	18: 62,936,953	F97S	probably damaging	Het
Axdnd1	T	C	1: 156,380,876	K267R		Het
BC067074	T	G	13: 113,320,776	S1119A		Het
Carf	G	T	1: 60,148,150	L637F	probably damaging	Het
Ccdc103	A	T	11: 102,883,810	S95C	possibly damaging	Het
Cfap20	T	C	8: 95,421,246	I156V	probably benign	Het
Csn1s2a	T	C	5: 87,781,805	C96R	probably benign	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,471,803		probably benign	Het
Dennd2a	G	A	6: 39,506,711	T405M	probably damaging	Het
Dnah14	A	T	1: 181,720,145	K2504N	probably damaging	Het
Dnajb2	G	A	1: 75,243,662	G275D		Het
Elf3	T	G	1: 135,257,118	D110A	probably damaging	Het
Eomes	A	G	9: 118,484,489	N534S	probably benign	Het
Fry	A	T	5: 150,386,067	R659W	probably damaging	Het
Gm10428	G	A	11: 62,753,380	C94Y	unknown	Het
Gm2696	T	A	10: 77,836,299	C111S	unknown	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
Lrp1b	T	A	2: 40,998,235	N2338Y		Het
Map2k1	A	G	9: 64,212,606	I139T	probably damaging	Het
Olfr44	T	C	9: 39,484,648	I202V	probably benign	Het
Olfr964-ps1	T	C	9: 39,686,707	Y79C	probably benign	Het
Pxylp1	G	A	9: 96,825,010	T373I	probably benign	Het
Ranbp9	T	C	13: 43,406,671	N484S	probably benign	Het
Rassf5	A	G	1: 131,181,249	V293A	probably benign	Het
Ring1	A	G	17: 34,023,446	I29T	probably damaging	Het
Scn1a	G	A	2: 66,324,618	Q666*	probably null	Het
Spice1	G	A	16: 44,379,275	G697R	probably benign	Het
Tas2r131	A	G	6: 132,957,604	F81L	probably benign	Het
Tenm2	G	A	11: 36,163,817	S572L	probably damaging	Het
Tfr2	A	G	5: 137,571,715	T128A	probably benign	Het
Trim56	T	A	5: 137,113,660	Q334L	probably damaging	Het
Vmn2r44	T	A	7: 8,367,528	R840*	probably null	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
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
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
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'- AGAGCTGCAGGGAGTCTTTC -3'
(R):5'- AGTGGTGGAAAGCAAGCTCC -3'

Sequencing Primer
(F):5'- CAGGGAGTCTTTCTGGGTCC -3'
(R):5'- GAGGGGTACAGCTTCTTCATCC -3'

Posted On

2019-05-15