Mutagenetix > Incidental Mutation

Incidental Mutation 'R1075:Dennd5a'

85606

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN domain containing 5A

Synonyms

Rab6ip1, 1500012B19Rik, ORF37

MMRRC Submission

039161-MU

Accession Numbers

Essential gene?

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

Stock #

R1075 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109492987-109559677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 109517808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 609 (D609E)

Ref Sequence

ENSEMBL: ENSMUSP00000102333 (fasta)

Gene Model

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

AlphaFold

Q6PAL8

Predicted Effect

probably benign
Transcript: ENSMUST00000080437
AA Change: D633E

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

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: D633E

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: D609E

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

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: D609E

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.4%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd6	T	C	4: 32,822,232 (GRCm39)	H179R	probably damaging	Het
Apbb2	G	T	5: 66,460,021 (GRCm39)	P692Q	probably damaging	Het
Arhgap40	A	G	2: 158,391,567 (GRCm39)	N627D	possibly damaging	Het
Asns	G	A	6: 7,676,076 (GRCm39)	R465*	probably null	Het
Bdkrb1	G	A	12: 105,570,562 (GRCm39)	V43I	probably benign	Het
Bod1	T	C	11: 31,621,514 (GRCm39)	D63G	possibly damaging	Het
Ccdc39	T	C	3: 33,880,629 (GRCm39)	K446R	probably damaging	Het
Csnka2ip	T	A	16: 64,298,310 (GRCm39)	K685*	probably null	Het
Dhx34	G	C	7: 15,952,274 (GRCm39)	T117S	probably benign	Het
Dpp4	A	T	2: 62,182,630 (GRCm39)	D550E	probably benign	Het
Enah	C	T	1: 181,784,066 (GRCm39)	R81K	unknown	Het
Epha5	G	T	5: 84,298,254 (GRCm39)	A383E	probably damaging	Het
Epha5	C	T	5: 84,298,255 (GRCm39)	A383T	probably damaging	Het
Etnppl	A	T	3: 130,423,212 (GRCm39)	M298L	probably benign	Het
Fam81a	G	A	9: 70,017,556 (GRCm39)	R130*	probably null	Het
Fbxl3	A	C	14: 103,332,839 (GRCm39)	H46Q	probably benign	Het
Gal3st1	A	G	11: 3,948,509 (GRCm39)	I239V	possibly damaging	Het
H2-T15	C	T	17: 36,367,038 (GRCm39)	G335D	probably benign	Het
Htra4	T	C	8: 25,523,612 (GRCm39)	I318V	probably benign	Het
Igdcc4	A	G	9: 65,038,932 (GRCm39)	T906A	possibly damaging	Het
Il7r	T	C	15: 9,516,543 (GRCm39)	N86S	probably benign	Het
Mettl17	A	G	14: 52,127,063 (GRCm39)	N231D	probably benign	Het
Mki67	T	C	7: 135,299,040 (GRCm39)	D1998G	probably benign	Het
Myh15	G	T	16: 48,940,417 (GRCm39)	R789L	possibly damaging	Het
Myh7	A	G	14: 55,224,860 (GRCm39)	V569A	probably benign	Het
Nell1	A	G	7: 50,503,588 (GRCm39)	I617M	probably damaging	Het
Nlrp1b	C	G	11: 71,072,512 (GRCm39)	E444Q	probably benign	Het
Or10ak16	T	C	4: 118,750,402 (GRCm39)	S41P	probably damaging	Het
Or2b4	T	A	17: 38,116,660 (GRCm39)	L208*	probably null	Het
Or2y8	T	A	11: 52,035,677 (GRCm39)	I227F	possibly damaging	Het
Psmd2	T	C	16: 20,478,709 (GRCm39)	S603P	probably damaging	Het
Slc4a2	T	A	5: 24,644,055 (GRCm39)	I913N	possibly damaging	Het
Smyd4	T	C	11: 75,291,164 (GRCm39)	Y589H	probably damaging	Het
Spag17	A	G	3: 100,000,992 (GRCm39)	E1850G	probably damaging	Het
Srsf11	A	T	3: 157,718,427 (GRCm39)		probably benign	Het
Stra6	A	T	9: 58,058,687 (GRCm39)	N488I	possibly damaging	Het
Supt20	C	T	3: 54,614,362 (GRCm39)	Q160*	probably null	Het
Tbc1d2b	G	A	9: 90,104,393 (GRCm39)	P583L	possibly damaging	Het
Uchl1	T	A	5: 66,839,808 (GRCm39)	F117I	probably damaging	Het
Usf1	T	A	1: 171,245,677 (GRCm39)	N307K	probably benign	Het
Zfp994	T	A	17: 22,419,926 (GRCm39)	H341L	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCCAATGCGGCCATTTTCAAG -3'
(R):5'- AGGCATCCTTCCTGTCAGATCAGC -3'

Sequencing Primer
(F):5'- tggtaaggcagaggcgg -3'
(R):5'- TCCTGTCAGATCAGCCTGAG -3'

Posted On

2013-11-18