Mutagenetix > Incidental Mutation

Incidental Mutation 'R9800:Dennd5a'

735156

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN domain containing 5A

Synonyms

Rab6ip1, 1500012B19Rik, ORF37

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9800 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109492987-109559677 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 109500374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 917 (R917L)

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: R917L

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: R917L

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: R893L

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: R893L

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,119,283 (GRCm39)	I1009N	possibly damaging	Het
Abtb3	C	A	10: 85,224,079 (GRCm39)	A296E	unknown	Het
Adcy8	T	A	15: 64,571,095 (GRCm39)	N1213Y	probably benign	Het
Ahctf1	T	C	1: 179,581,433 (GRCm39)	S1590G	possibly damaging	Het
Ahcyl1	A	T	3: 107,577,588 (GRCm39)	N277K	probably damaging	Het
Ank2	A	T	3: 126,740,149 (GRCm39)	S1912T	unknown	Het
Ank3	T	A	10: 69,733,957 (GRCm39)	N740K	unknown	Het
Atp13a3	A	C	16: 30,159,051 (GRCm39)	I800S	probably benign	Het
AU041133	T	A	10: 81,986,679 (GRCm39)	C111S	probably damaging	Het
Azi2	T	A	9: 117,884,924 (GRCm39)	I211N	probably benign	Het
Camk2b	T	C	11: 5,922,408 (GRCm39)	N480S	probably damaging	Het
Card6	A	G	15: 5,128,702 (GRCm39)	V898A	probably benign	Het
Copb2	T	A	9: 98,461,081 (GRCm39)	M381K	probably damaging	Het
Cplx3	T	C	9: 57,523,060 (GRCm39)	D133G	probably damaging	Het
Crisp1	A	T	17: 40,616,071 (GRCm39)	M102K	probably damaging	Het
Dcxr	A	T	11: 120,618,084 (GRCm39)		probably benign	Het
Egflam	T	A	15: 7,279,525 (GRCm39)	T494S	probably benign	Het
Fkbpl	T	A	17: 34,864,691 (GRCm39)	M153K	probably benign	Het
Helz2	A	T	2: 180,882,616 (GRCm39)	I59N	probably damaging	Het
Ldlrap1	T	C	4: 134,477,303 (GRCm39)	T194A	probably benign	Het
Lrrc27	T	C	7: 138,807,913 (GRCm39)	M340T	probably benign	Het
Lum	T	A	10: 97,404,157 (GRCm39)	S17R	probably benign	Het
Malrd1	A	G	2: 15,847,405 (GRCm39)	K1182E	unknown	Het
Map3k2	A	T	18: 32,333,069 (GRCm39)	D81V	possibly damaging	Het
Muc5b	A	T	7: 141,415,480 (GRCm39)	T2809S	possibly damaging	Het
Nle1	C	A	11: 82,793,876 (GRCm39)	V387L	probably benign	Het
Nr1h4	T	C	10: 89,290,618 (GRCm39)	D474G	probably benign	Het
Nup205	T	C	6: 35,163,468 (GRCm39)	I144T	possibly damaging	Het
Or10ag57	G	T	2: 87,218,508 (GRCm39)	C153F	probably damaging	Het
Or1e17	C	A	11: 73,831,986 (GRCm39)	L305I	probably benign	Het
Or2a56	A	T	6: 42,933,091 (GRCm39)	I220F	probably damaging	Het
Or4f15	G	A	2: 111,814,194 (GRCm39)	S75L	possibly damaging	Het
Or4n4	G	A	14: 50,519,701 (GRCm39)	T3I	probably benign	Het
Or51f1	T	C	7: 102,506,093 (GRCm39)	Y132C	probably benign	Het
Pkn3	C	T	2: 29,973,290 (GRCm39)	R371*	probably null	Het
Plin2	A	T	4: 86,586,742 (GRCm39)	S30T	possibly damaging	Het
Ppfibp1	T	C	6: 146,917,769 (GRCm39)	V475A	probably benign	Het
Ppp2ca	T	C	11: 52,008,910 (GRCm39)	Y137H	probably damaging	Het
Rasgrf2	T	A	13: 92,267,860 (GRCm39)	Q48L	probably damaging	Het
Rnf168	G	C	16: 32,117,386 (GRCm39)	V316L	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Spata31d1d	T	C	13: 59,874,637 (GRCm39)	H966R	possibly damaging	Het
Speg	C	A	1: 75,399,358 (GRCm39)	D2268E	probably benign	Het
Srp54c	A	G	12: 55,296,811 (GRCm39)	I170V	probably benign	Het
Syde2	A	G	3: 145,704,364 (GRCm39)	R439G	probably benign	Het
Tcof1	T	C	18: 60,949,558 (GRCm39)	K1155R	unknown	Het
Tmem184c	T	C	8: 78,323,087 (GRCm39)	I592V	probably benign	Het
Trav6-7-dv9	A	G	14: 53,947,669 (GRCm39)	Y57C	probably damaging	Het
Trpc1	T	A	9: 95,625,303 (GRCm39)	I108F	probably damaging	Het
Virma	A	T	4: 11,546,007 (GRCm39)	H1615L	probably damaging	Het
Vmn2r10	A	T	5: 109,150,404 (GRCm39)	D213E	probably damaging	Het
Vmn2r116	T	A	17: 23,620,399 (GRCm39)	V711E	probably damaging	Het
Vps16	T	C	2: 130,282,405 (GRCm39)	F413L	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	Het
Wasf1	T	C	10: 40,812,693 (GRCm39)	I494T	unknown	Het
Wdr36	A	G	18: 32,985,700 (GRCm39)	D539G	possibly damaging	Het
Zfp81	A	T	17: 33,554,411 (GRCm39)	C134*	probably null	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
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
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'- AGCCTGGGTAGGTTCATGAC -3'
(R):5'- CTCTGACAGTAGAGCAACATGC -3'

Sequencing Primer
(F):5'- TTCATGACGCCTGGCTAGAACAG -3'
(R):5'- TCAGGCATAAAGAACGGCTAGTCTC -3'

Posted On

2022-11-14