Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03181:Dennd5a'

412259

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN domain containing 5A

Synonyms

Rab6ip1, 1500012B19Rik, ORF37

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

IGL03181

Quality Score

Status

Chromosome

Chromosomal Location

109492987-109559677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109532865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 302 (F302I)

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

probably damaging
Transcript: ENSMUST00000080437
AA Change: F302I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: F302I

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: F278I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: F278I

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: ENSMUST00000151923

Coding Region Coverage

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,240,147 (GRCm39)	V1319A	possibly damaging	Het
Abcb11	T	A	2: 69,158,352 (GRCm39)		probably benign	Het
Acss3	G	T	10: 106,889,249 (GRCm39)	H190Q	probably damaging	Het
Adra2b	C	T	2: 127,205,903 (GRCm39)	T140I	probably benign	Het
Arl1	T	A	10: 88,578,921 (GRCm39)		probably benign	Het
Atp4a	T	G	7: 30,424,129 (GRCm39)	C968G	probably benign	Het
Clec4n	T	C	6: 123,207,474 (GRCm39)	C13R	possibly damaging	Het
Cnot3	T	C	7: 3,656,247 (GRCm39)	Y178H	probably damaging	Het
Col18a1	G	A	10: 76,891,532 (GRCm39)	R1560C	probably damaging	Het
Cyp2c66	T	C	19: 39,130,483 (GRCm39)	F106S	probably benign	Het
Dcn	A	C	10: 97,319,314 (GRCm39)	E30D	probably damaging	Het
Dip2b	T	C	15: 100,113,088 (GRCm39)	V1501A	probably damaging	Het
Dnah10	C	T	5: 124,825,521 (GRCm39)	P687S	probably damaging	Het
Drc7	A	G	8: 95,794,755 (GRCm39)	T387A	probably benign	Het
Dusp7	T	A	9: 106,251,009 (GRCm39)	M378K	probably damaging	Het
Ftmt	T	C	18: 52,464,953 (GRCm39)	Y90H	probably damaging	Het
Glb1l3	T	C	9: 26,739,659 (GRCm39)		probably null	Het
Gpatch3	T	C	4: 133,305,433 (GRCm39)	F223L	probably damaging	Het
Gpr158	T	A	2: 21,787,972 (GRCm39)	F538I	probably benign	Het
Gucy2e	A	G	11: 69,121,008 (GRCm39)		probably benign	Het
Hadha	A	G	5: 30,326,524 (GRCm39)	V566A	probably benign	Het
Hectd4	A	T	5: 121,492,021 (GRCm39)	S3787C	possibly damaging	Het
Hnrnpk	A	T	13: 58,542,130 (GRCm39)	D265E	possibly damaging	Het
Hspbp1	G	A	7: 4,687,363 (GRCm39)	R83W	probably damaging	Het
Hspg2	T	A	4: 137,243,248 (GRCm39)	L758Q	probably damaging	Het
Ippk	A	G	13: 49,595,463 (GRCm39)	Y180C	probably damaging	Het
Itpr3	T	A	17: 27,330,242 (GRCm39)	M1620K	probably benign	Het
Klf7	T	C	1: 64,074,885 (GRCm39)	K298R	possibly damaging	Het
Ktn1	A	T	14: 47,970,741 (GRCm39)	T1229S	probably benign	Het
Lefty2	A	G	1: 180,725,115 (GRCm39)	N282D	probably damaging	Het
Lrrc37	A	T	11: 103,507,242 (GRCm39)		probably benign	Het
Nsd1	G	A	13: 55,394,858 (GRCm39)	E820K	probably damaging	Het
Obsl1	C	A	1: 75,469,228 (GRCm39)	A1238S	probably benign	Het
Odr4	G	T	1: 150,239,290 (GRCm39)	P378T	probably benign	Het
Pias2	T	C	18: 77,220,938 (GRCm39)	I391T	possibly damaging	Het
Ppp1r10	G	T	17: 36,241,516 (GRCm39)	G764*	probably null	Het
Ptpra	T	C	2: 130,359,707 (GRCm39)	F158L	probably damaging	Het
Recql	T	C	6: 142,323,918 (GRCm39)	S59G	probably benign	Het
Rrp1b	A	T	17: 32,276,150 (GRCm39)	I566F	probably benign	Het
Sh3yl1	G	A	12: 30,991,979 (GRCm39)	D145N	possibly damaging	Het
Slc35f5	T	A	1: 125,512,922 (GRCm39)	I52N	probably damaging	Het
Slc51b	A	G	9: 65,322,447 (GRCm39)		probably null	Het
Smpd4	C	T	16: 17,443,671 (GRCm39)	Q72*	probably null	Het
Spata6	A	G	4: 111,679,963 (GRCm39)	D391G	probably benign	Het
Tnc	T	A	4: 63,885,543 (GRCm39)	D1853V	possibly damaging	Het
Tnks1bp1	C	T	2: 84,893,058 (GRCm39)	T333I	probably benign	Het
Vmn2r100	T	A	17: 19,752,207 (GRCm39)	I813N	probably damaging	Het
Vwa8	T	A	14: 79,246,690 (GRCm39)	H677Q	probably benign	Het
Washc4	T	C	10: 83,426,883 (GRCm39)	Y1064H	probably damaging	Het
Wdr82	T	A	9: 106,063,614 (GRCm39)	I272K	probably benign	Het
Zc3h12a	T	C	4: 125,013,097 (GRCm39)	Y589C	probably damaging	Het

Other mutations in Dennd5a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00661:Dennd5a	APN	7	109,507,579 (GRCm39)	missense	probably benign
IGL01338:Dennd5a	APN	7	109,518,611 (GRCm39)	missense	possibly damaging	0.92
IGL01618:Dennd5a	APN	7	109,533,302 (GRCm39)	missense	probably damaging	1.00
IGL02047:Dennd5a	APN	7	109,533,991 (GRCm39)	missense	possibly damaging	0.92
IGL02277:Dennd5a	APN	7	109,497,176 (GRCm39)	missense	possibly damaging	0.61
IGL02492:Dennd5a	APN	7	109,532,844 (GRCm39)	missense	probably benign
IGL02697:Dennd5a	APN	7	109,493,988 (GRCm39)	missense	probably damaging	1.00
IGL02935:Dennd5a	APN	7	109,520,514 (GRCm39)	missense	possibly damaging	0.80
IGL02986:Dennd5a	APN	7	109,534,731 (GRCm39)	missense	probably benign
IGL03088:Dennd5a	APN	7	109,507,588 (GRCm39)	missense	probably damaging	1.00
IGL03156:Dennd5a	APN	7	109,518,462 (GRCm39)	splice site	probably benign
big_pal	UTSW	7	109,518,630 (GRCm39)	nonsense	probably null
Celestial	UTSW	7	109,500,296 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Dennd5a	UTSW	7	109,532,831 (GRCm39)	missense	probably damaging	1.00
R0055:Dennd5a	UTSW	7	109,498,998 (GRCm39)	missense	possibly damaging	0.72
R0055:Dennd5a	UTSW	7	109,498,998 (GRCm39)	missense	possibly damaging	0.72
R0092:Dennd5a	UTSW	7	109,499,013 (GRCm39)	missense	possibly damaging	0.95
R0111:Dennd5a	UTSW	7	109,533,961 (GRCm39)	missense	probably damaging	1.00
R0517:Dennd5a	UTSW	7	109,533,968 (GRCm39)	missense	probably damaging	1.00
R0546:Dennd5a	UTSW	7	109,520,633 (GRCm39)	missense	probably benign	0.01
R0811:Dennd5a	UTSW	7	109,532,820 (GRCm39)	missense	possibly damaging	0.93
R0812:Dennd5a	UTSW	7	109,532,820 (GRCm39)	missense	possibly damaging	0.93
R0827:Dennd5a	UTSW	7	109,498,938 (GRCm39)	missense	probably damaging	1.00
R0831:Dennd5a	UTSW	7	109,533,961 (GRCm39)	missense	probably damaging	1.00
R1075:Dennd5a	UTSW	7	109,517,808 (GRCm39)	missense	probably benign
R1115:Dennd5a	UTSW	7	109,517,968 (GRCm39)	missense	probably damaging	1.00
R1128:Dennd5a	UTSW	7	109,520,541 (GRCm39)	nonsense	probably null
R1300:Dennd5a	UTSW	7	109,518,614 (GRCm39)	missense	probably benign
R1698:Dennd5a	UTSW	7	109,516,587 (GRCm39)	splice site	probably null
R1711:Dennd5a	UTSW	7	109,517,919 (GRCm39)	missense	probably benign	0.00
R1771:Dennd5a	UTSW	7	109,517,893 (GRCm39)	missense	probably damaging	0.98
R1803:Dennd5a	UTSW	7	109,497,820 (GRCm39)	missense	probably benign	0.00
R2064:Dennd5a	UTSW	7	109,497,900 (GRCm39)	splice site	probably benign
R2176:Dennd5a	UTSW	7	109,504,327 (GRCm39)	splice site	probably null
R2182:Dennd5a	UTSW	7	109,533,201 (GRCm39)	missense	probably benign	0.03
R2852:Dennd5a	UTSW	7	109,532,878 (GRCm39)	missense	probably damaging	1.00
R2853:Dennd5a	UTSW	7	109,532,878 (GRCm39)	missense	probably damaging	1.00
R3035:Dennd5a	UTSW	7	109,520,559 (GRCm39)	missense	probably benign	0.00
R3835:Dennd5a	UTSW	7	109,533,449 (GRCm39)	missense	probably benign	0.00
R3953:Dennd5a	UTSW	7	109,504,906 (GRCm39)	missense	probably benign	0.44
R3954:Dennd5a	UTSW	7	109,504,906 (GRCm39)	missense	probably benign	0.44
R3955:Dennd5a	UTSW	7	109,504,906 (GRCm39)	missense	probably benign	0.44
R3957:Dennd5a	UTSW	7	109,504,906 (GRCm39)	missense	probably benign	0.44
R4014:Dennd5a	UTSW	7	109,534,688 (GRCm39)	critical splice donor site	probably null
R4166:Dennd5a	UTSW	7	109,526,032 (GRCm39)	critical splice donor site	probably null
R4362:Dennd5a	UTSW	7	109,495,550 (GRCm39)	missense	probably damaging	1.00
R4567:Dennd5a	UTSW	7	109,498,942 (GRCm39)	missense	probably benign	0.06
R4700:Dennd5a	UTSW	7	109,520,405 (GRCm39)	missense	probably benign	0.01
R4734:Dennd5a	UTSW	7	109,495,543 (GRCm39)	missense	probably damaging	0.96
R4914:Dennd5a	UTSW	7	109,500,296 (GRCm39)	missense	probably damaging	1.00
R4915:Dennd5a	UTSW	7	109,500,296 (GRCm39)	missense	probably damaging	1.00
R4918:Dennd5a	UTSW	7	109,500,296 (GRCm39)	missense	probably damaging	1.00
R4992:Dennd5a	UTSW	7	109,493,919 (GRCm39)	missense	probably damaging	0.98
R5011:Dennd5a	UTSW	7	109,513,983 (GRCm39)	missense	possibly damaging	0.89
R5013:Dennd5a	UTSW	7	109,513,983 (GRCm39)	missense	possibly damaging	0.89
R5034:Dennd5a	UTSW	7	109,499,004 (GRCm39)	missense	probably damaging	0.98
R5194:Dennd5a	UTSW	7	109,532,936 (GRCm39)	missense	probably damaging	1.00
R5359:Dennd5a	UTSW	7	109,497,169 (GRCm39)	missense	probably damaging	1.00
R5430:Dennd5a	UTSW	7	109,533,447 (GRCm39)	missense	probably damaging	1.00
R5586:Dennd5a	UTSW	7	109,504,928 (GRCm39)	missense	possibly damaging	0.72
R5607:Dennd5a	UTSW	7	109,518,630 (GRCm39)	nonsense	probably null
R5608:Dennd5a	UTSW	7	109,518,630 (GRCm39)	nonsense	probably null
R5783:Dennd5a	UTSW	7	109,493,843 (GRCm39)	missense	probably damaging	0.97
R5866:Dennd5a	UTSW	7	109,518,567 (GRCm39)	missense	probably benign	0.00
R5890:Dennd5a	UTSW	7	109,533,428 (GRCm39)	missense	probably benign	0.00
R6053:Dennd5a	UTSW	7	109,532,952 (GRCm39)	missense	probably damaging	1.00
R6247:Dennd5a	UTSW	7	109,497,889 (GRCm39)	missense	probably damaging	1.00
R6362:Dennd5a	UTSW	7	109,533,472 (GRCm39)	nonsense	probably null
R6446:Dennd5a	UTSW	7	109,493,873 (GRCm39)	missense	probably damaging	1.00
R6894:Dennd5a	UTSW	7	109,500,325 (GRCm39)	missense	probably damaging	1.00
R7061:Dennd5a	UTSW	7	109,504,386 (GRCm39)	missense	probably benign	0.19
R7115:Dennd5a	UTSW	7	109,493,961 (GRCm39)	missense	probably damaging	1.00
R7133:Dennd5a	UTSW	7	109,495,449 (GRCm39)	critical splice donor site	probably null
R7302:Dennd5a	UTSW	7	109,504,906 (GRCm39)	missense	probably damaging	0.98
R7339:Dennd5a	UTSW	7	109,500,366 (GRCm39)	missense	probably damaging	1.00
R7704:Dennd5a	UTSW	7	109,496,174 (GRCm39)	missense	possibly damaging	0.85
R7756:Dennd5a	UTSW	7	109,520,714 (GRCm39)	missense	possibly damaging	0.95
R7838:Dennd5a	UTSW	7	109,533,196 (GRCm39)	missense	probably benign
R7873:Dennd5a	UTSW	7	109,526,141 (GRCm39)	missense	probably damaging	1.00
R8124:Dennd5a	UTSW	7	109,497,142 (GRCm39)	missense	probably damaging	1.00
R8309:Dennd5a	UTSW	7	109,500,332 (GRCm39)	missense	probably damaging	1.00
R8345:Dennd5a	UTSW	7	109,504,477 (GRCm39)	missense	possibly damaging	0.55
R8560:Dennd5a	UTSW	7	109,533,898 (GRCm39)	critical splice donor site	probably null
R9104:Dennd5a	UTSW	7	109,497,713 (GRCm39)	critical splice donor site	probably null
R9218:Dennd5a	UTSW	7	109,507,592 (GRCm39)	missense	probably damaging	1.00
R9348:Dennd5a	UTSW	7	109,498,942 (GRCm39)	missense	probably benign	0.00
R9348:Dennd5a	UTSW	7	109,498,930 (GRCm39)	critical splice donor site	probably null
R9566:Dennd5a	UTSW	7	109,533,254 (GRCm39)	missense	probably benign	0.01
R9608:Dennd5a	UTSW	7	109,520,713 (GRCm39)	missense	probably damaging	1.00
R9756:Dennd5a	UTSW	7	109,496,174 (GRCm39)	missense	possibly damaging	0.85
R9800:Dennd5a	UTSW	7	109,500,374 (GRCm39)	missense	probably benign	0.40
Z1088:Dennd5a	UTSW	7	109,504,480 (GRCm39)	missense	probably damaging	1.00
Z1088:Dennd5a	UTSW	7	109,493,954 (GRCm39)	missense	possibly damaging	0.73
Z1177:Dennd5a	UTSW	7	109,533,231 (GRCm39)	missense	probably benign

Posted On

2016-08-02