Mutagenetix > Incidental Mutation

Incidental Mutation 'R5866:Dennd5a'

454174

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN domain containing 5A

Synonyms

Rab6ip1, 1500012B19Rik, ORF37

MMRRC Submission

044075-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R5866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109492987-109559677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109518567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 525 (T525A)

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 benign
Transcript: ENSMUST00000080437
AA Change: T525A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: T525A

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: T501A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: T501A

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: ENSMUST00000139579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154002

Meta Mutation Damage Score

0.1062

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.7%

Validation Efficiency

91% (51/56)

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
3110009E18Rik	A	G	1: 120,096,814 (GRCm39)		probably benign	Het
A530084C06Rik	G	A	13: 31,743,178 (GRCm39)	A25V	unknown	Het
A730018C14Rik	T	C	12: 112,381,472 (GRCm39)		noncoding transcript	Het
Aasdh	G	T	5: 77,024,058 (GRCm39)	A198E	probably damaging	Het
Abcb8	C	T	5: 24,607,101 (GRCm39)	A328V	probably damaging	Het
Ace3	C	A	11: 105,888,330 (GRCm39)	H347N	probably damaging	Het
Amy1	A	T	3: 113,355,569 (GRCm39)	M302K	possibly damaging	Het
Apol11b	C	T	15: 77,524,747 (GRCm39)	V13M	probably null	Het
Arfgef2	T	A	2: 166,678,177 (GRCm39)	V131E	possibly damaging	Het
Arnt	T	A	3: 95,398,037 (GRCm39)		probably benign	Het
Atl1	T	C	12: 69,972,785 (GRCm39)	V35A	probably damaging	Het
BC061237	A	T	14: 44,738,730 (GRCm39)	D43V	possibly damaging	Het
Cracd	A	G	5: 77,005,384 (GRCm39)	T582A	unknown	Het
Cyp4f17	T	C	17: 32,725,887 (GRCm39)	S7P	probably benign	Het
Ddx60	A	G	8: 62,393,774 (GRCm39)	Y70C	probably damaging	Het
Defb34	T	C	8: 19,176,468 (GRCm39)	L53P	probably damaging	Het
Ephb3	T	C	16: 21,030,129 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,621,750 (GRCm39)		probably null	Het
Gramd2b	A	G	18: 56,607,108 (GRCm39)	D74G	possibly damaging	Het
Hax1	A	G	3: 89,903,035 (GRCm39)		probably benign	Het
Kcnh8	T	C	17: 53,263,804 (GRCm39)	I767T	probably benign	Het
Ldah	G	A	12: 8,270,614 (GRCm39)	V5I	possibly damaging	Het
Nbeal2	A	G	9: 110,460,560 (GRCm39)	V1758A	probably damaging	Het
Nos1	A	G	5: 118,033,967 (GRCm39)	D363G	probably damaging	Het
Or14j6	C	T	17: 38,214,700 (GRCm39)	R88*	probably null	Het
Pdlim7	T	A	13: 55,646,501 (GRCm39)	D445V	probably damaging	Het
Phip	T	A	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Pigb	C	T	9: 72,936,966 (GRCm39)	A215T	probably damaging	Het
Pkd1	A	T	17: 24,799,935 (GRCm39)	S2952C	probably damaging	Het
Plxnb2	T	C	15: 89,051,775 (GRCm39)	D148G	probably damaging	Het
Ppp1r36	T	C	12: 76,473,579 (GRCm39)	F70S	possibly damaging	Het
Rad52	G	A	6: 119,889,907 (GRCm39)		probably benign	Het
Rasa2	T	A	9: 96,427,823 (GRCm39)	T681S	probably benign	Het
Rel	A	T	11: 23,692,724 (GRCm39)	Y436*	probably null	Het
Sec16a	G	A	2: 26,309,650 (GRCm39)	P2119S	probably benign	Het
Sema6d	C	A	2: 124,506,262 (GRCm39)	T733K	probably benign	Het
Sf3b3	C	T	8: 111,541,266 (GRCm39)	A950T	probably benign	Het
Slc24a5	T	A	2: 124,927,591 (GRCm39)	F297I	probably damaging	Het
Spp2	A	T	1: 88,340,025 (GRCm39)	D122V	possibly damaging	Het
Stap1	A	G	5: 86,225,906 (GRCm39)	K60R	probably benign	Het
Stat1	A	G	1: 52,178,423 (GRCm39)	K286E	probably damaging	Het
Stn1	T	C	19: 47,505,568 (GRCm39)	T129A	probably benign	Het
Tagap	C	T	17: 8,152,285 (GRCm39)	T490I	probably damaging	Het
Tbc1d2	T	C	4: 46,637,715 (GRCm39)	E177G	possibly damaging	Het
Tln2	A	T	9: 67,174,150 (GRCm39)	L841Q	probably damaging	Het
Tmem59	T	A	4: 107,047,754 (GRCm39)	M71K	probably damaging	Het
Ugt2a3	G	A	5: 87,484,406 (GRCm39)	T206I	probably damaging	Het
Utp20	G	A	10: 88,608,421 (GRCm39)	H1539Y	possibly damaging	Het
Vps13a	T	C	19: 16,657,387 (GRCm39)	N1794S	probably benign	Het
Vsig10	A	T	5: 117,490,814 (GRCm39)		probably null	Het
Zfp97	T	A	17: 17,365,087 (GRCm39)	F195L	possibly 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
IGL03181:Dennd5a	APN	7	109,532,865 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGATGTCATATGCAGTCACTTC -3'
(R):5'- TCTCACCATTTGCTGCTAAGAC -3'

Sequencing Primer
(F):5'- AGTCACTTCTTCAAGCTGCAAGG -3'
(R):5'- CCATTTGCTGCTAAGACCAATAGGG -3'

Posted On

2017-02-10