Mutagenetix > Incidental Mutation

Incidental Mutation 'R5194:Dennd5a'

399966

Institutional Source

Beutler Lab

Gene Symbol

Dennd5a

Ensembl Gene

ENSMUSG00000035901

Gene Name

DENN domain containing 5A

Synonyms

Rab6ip1, 1500012B19Rik, ORF37

MMRRC Submission

042770-MU

Accession Numbers

Essential gene?

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

Stock #

R5194 (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 109532936 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 254 (E254G)

Ref Sequence

ENSEMBL: ENSMUSP00000102333 (fasta)

Gene Model

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

AlphaFold

Q6PAL8

Predicted Effect

probably damaging
Transcript: ENSMUST00000080437
AA Change: E278G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000079295
Gene: ENSMUSG00000035901
AA Change: E278G

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: E254G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102333
Gene: ENSMUSG00000035901
AA Change: E254G

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

Meta Mutation Damage Score

0.5907

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

98% (59/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,059 (GRCm39)	N82D	probably benign	Het
Aadacl4fm2	A	G	4: 144,281,652 (GRCm39)	V380A	probably benign	Het
Acadm	C	T	3: 153,638,755 (GRCm39)	R206H	possibly damaging	Het
Acly	T	A	11: 100,414,372 (GRCm39)	Y18F	probably benign	Het
Acnat2	G	T	4: 49,380,452 (GRCm39)	Q291K	probably benign	Het
Agtpbp1	T	C	13: 59,648,453 (GRCm39)	I456V	probably benign	Het
Ankrd7	A	G	6: 18,868,076 (GRCm39)	N114S	possibly damaging	Het
Arfgef1	A	T	1: 10,275,132 (GRCm39)	L307I	probably benign	Het
Arhgef2	A	T	3: 88,542,956 (GRCm39)	I383F	probably damaging	Het
Cbs	C	T	17: 31,843,198 (GRCm39)		probably null	Het
Cep135	T	C	5: 76,763,624 (GRCm39)	V538A	probably benign	Het
Drc7	T	C	8: 95,788,345 (GRCm39)	V236A	probably benign	Het
Dtna	C	T	18: 23,723,302 (GRCm39)	Q169*	probably null	Het
Egfem1	G	A	3: 29,411,345 (GRCm39)		probably null	Het
Eif2ak3	T	C	6: 70,835,462 (GRCm39)	S130P	possibly damaging	Het
Ewsr1	T	C	11: 5,032,355 (GRCm39)	N297S	unknown	Het
F13a1	T	G	13: 37,156,037 (GRCm39)	D192A	probably damaging	Het
Fam120a	A	G	13: 49,034,411 (GRCm39)	V1067A	probably benign	Het
Gm17490	T	C	2: 11,631,062 (GRCm39)	Y5C	unknown	Het
Gm57859	T	C	11: 113,579,654 (GRCm39)	S350P	possibly damaging	Het
Gm8587	C	T	12: 88,056,556 (GRCm39)		noncoding transcript	Het
H2-Ab1	C	T	17: 34,488,352 (GRCm39)		probably benign	Het
Hoxd12	T	C	2: 74,505,447 (GRCm39)	L6P	probably damaging	Het
Ifi204	C	T	1: 173,576,910 (GRCm39)	D564N	possibly damaging	Het
Irak2	T	C	6: 113,667,751 (GRCm39)	V444A	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrba	A	C	3: 86,235,526 (GRCm39)	N877H	probably damaging	Het
Mylk3	T	C	8: 86,079,495 (GRCm39)	I388V	probably benign	Het
Myo9b	C	T	8: 71,801,733 (GRCm39)	A1286V	probably benign	Het
Myt1l	A	C	12: 29,861,647 (GRCm39)	D143A	unknown	Het
Ngfr	T	C	11: 95,471,808 (GRCm39)	N63S	probably benign	Het
Or2ag16	A	T	7: 106,352,426 (GRCm39)	H56Q	probably benign	Het
Or4c3	T	A	2: 89,851,870 (GRCm39)	Y180F	probably damaging	Het
Or51a7	A	G	7: 102,615,071 (GRCm39)	I255V	probably benign	Het
Or6c70	C	T	10: 129,709,967 (GRCm39)	V220I	probably benign	Het
Or6z6	A	G	7: 6,491,519 (GRCm39)	L118P	probably damaging	Het
P2rx7	T	C	5: 122,811,858 (GRCm39)	S390P	probably benign	Het
Pcdhga4	A	C	18: 37,820,794 (GRCm39)	Q781P	probably benign	Het
Phip	G	A	9: 82,790,915 (GRCm39)	S677F	probably benign	Het
Ptpdc1	C	A	13: 48,740,265 (GRCm39)	V389F	possibly damaging	Het
Rab2a	T	A	4: 8,604,381 (GRCm39)	I161N	probably benign	Het
Rnf113a2	T	A	12: 84,464,111 (GRCm39)	M1K	probably null	Het
Schip1	T	C	3: 68,402,205 (GRCm39)	V122A	probably benign	Het
Sdr16c5	C	A	4: 4,006,663 (GRCm39)	A210S	probably benign	Het
Sh3bp1	A	G	15: 78,787,301 (GRCm39)	K83E	probably damaging	Het
Sipa1l2	T	C	8: 126,166,012 (GRCm39)	S1541G	possibly damaging	Het
Slc22a21	T	C	11: 53,870,673 (GRCm39)	Y4C	probably damaging	Het
Smco1	C	T	16: 32,092,592 (GRCm39)	H88Y	probably damaging	Het
Tll2	T	C	19: 41,084,336 (GRCm39)	D697G	probably damaging	Het
Trim34a	A	G	7: 103,910,200 (GRCm39)	N334S	possibly damaging	Het
Ubqln1	A	G	13: 58,346,847 (GRCm39)	I64T	probably benign	Het
Vstm2b	T	A	7: 40,551,912 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,140,639 (GRCm39)	F238L	probably damaging	Het
Wiz	T	C	17: 32,596,822 (GRCm39)		probably benign	Het
Zfp407	T	C	18: 84,579,434 (GRCm39)	S560G	probably benign	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
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'- TATGTGACTATACAAAGCAGGGAGC -3'
(R):5'- AGCAGGGACACACTCTATGTC -3'

Sequencing Primer
(F):5'- AGGGAGCCCACAGGGTG -3'
(R):5'- GGACACACTCTATGTCTCTAAATGC -3'

Posted On

2016-07-06