Mutagenetix > Incidental Mutation

Incidental Mutation 'R3957:Dennd5a'

310758

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN domain containing 5A

Synonyms

Rab6ip1, 1500012B19Rik, ORF37

MMRRC Submission

040931-MU

Accession Numbers

Essential gene?

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

Stock #

R3957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109492987-109559677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109504906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 868 (M868T)

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: M868T

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: M868T

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: M844T

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: M844T

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

0.4447

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.5%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,100,805 (GRCm39)	K393E	possibly damaging	Het
Acsm4	A	T	7: 119,302,588 (GRCm39)	M238L	possibly damaging	Het
Adam2	G	A	14: 66,295,059 (GRCm39)	S262L	probably damaging	Het
Atp13a5	T	A	16: 29,117,012 (GRCm39)	I579L	probably benign	Het
Canx	A	G	11: 50,199,210 (GRCm39)	V153A	probably damaging	Het
Cdan1	A	G	2: 120,556,113 (GRCm39)	Y718H	probably damaging	Het
Cdan1	G	A	2: 120,561,501 (GRCm39)		probably benign	Het
Cpsf3	A	G	12: 21,363,806 (GRCm39)	D632G	probably benign	Het
Dach1	T	C	14: 98,077,545 (GRCm39)	T561A	probably damaging	Het
Dhx29	C	T	13: 113,067,455 (GRCm39)	A112V	probably benign	Het
Fanca	G	A	8: 124,043,102 (GRCm39)	R95C	probably benign	Het
Fat4	C	A	3: 39,036,495 (GRCm39)	N3382K	probably benign	Het
Fkbp15	A	C	4: 62,252,489 (GRCm39)	F290L	probably benign	Het
Fkbp8	T	G	8: 70,987,517 (GRCm39)	S376A	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igfn1	A	G	1: 135,894,918 (GRCm39)	Y1883H	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,300 (GRCm39)	Q97L	probably damaging	Het
Igkv15-103	A	T	6: 68,414,903 (GRCm39)	Y114F	probably benign	Het
Kera	G	A	10: 97,448,707 (GRCm39)	R309H	probably benign	Het
Kif1a	T	A	1: 92,953,416 (GRCm39)	H1256L	probably damaging	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Lmx1b	T	C	2: 33,459,106 (GRCm39)	E149G	probably damaging	Het
Me2	A	G	18: 73,914,203 (GRCm39)	F443L	probably damaging	Het
Med12l	T	A	3: 58,980,589 (GRCm39)	S307R	probably damaging	Het
Mettl25b	T	C	3: 87,834,135 (GRCm39)	K116R	possibly damaging	Het
Mocs2	T	A	13: 114,961,803 (GRCm39)		probably null	Het
Nek7	C	A	1: 138,462,127 (GRCm39)	C79F	probably damaging	Het
Or14j6	A	T	17: 38,214,500 (GRCm39)	H21L	probably benign	Het
Or51f1	A	G	7: 102,505,824 (GRCm39)	C222R	probably damaging	Het
Or5al1	A	G	2: 85,990,282 (GRCm39)	V144A	probably benign	Het
Or5d43	A	G	2: 88,105,348 (GRCm39)	F15S	probably damaging	Het
Ovch2	G	A	7: 107,388,318 (GRCm39)	L421F	probably damaging	Het
Pan2	C	T	10: 128,151,046 (GRCm39)	R806C	probably damaging	Het
Plod3	A	T	5: 137,023,046 (GRCm39)	H616L	probably damaging	Het
Plxnb3	T	C	X: 72,814,826 (GRCm39)	V1789A	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Tbc1d9	C	T	8: 83,960,161 (GRCm39)	T138I	probably damaging	Het
Tdrkh	A	G	3: 94,335,556 (GRCm39)	N383S	probably damaging	Het
Trim30d	C	T	7: 104,121,728 (GRCm39)	G339D	probably damaging	Het
Trub1	G	A	19: 57,473,798 (GRCm39)	A239T	possibly damaging	Het
Tspan32	T	A	7: 142,560,735 (GRCm39)	M61K	probably damaging	Het
Ttc6	T	C	12: 57,744,238 (GRCm39)	V1290A	probably benign	Het
Ttn	A	G	2: 76,799,593 (GRCm39)	V429A	possibly damaging	Het
Unc13b	A	G	4: 43,256,834 (GRCm39)	Y3962C	probably damaging	Het
Usp3	T	C	9: 66,469,873 (GRCm39)	T83A	probably benign	Het
Vmn2r95	T	A	17: 18,660,358 (GRCm39)	Y257N	possibly damaging	Het
Zmym6	T	C	4: 127,017,089 (GRCm39)	S957P	possibly damaging	Het
Zmynd8	T	C	2: 165,654,395 (GRCm39)	T722A	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCCCCATTACTGTAAGATACC -3'
(R):5'- GGAGCCAATTGTTTGCTGTAGC -3'

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

Posted On

2015-04-29