Mutagenetix > Incidental Mutation

Incidental Mutation 'R3892:Rabgef1'

309974

Institutional Source

Beutler Lab

Gene Symbol

Rabgef1

Ensembl Gene

ENSMUSG00000025340

Gene Name

RAB guanine nucleotide exchange factor (GEF) 1

Synonyms

Ras negative regulator Rabex-5

MMRRC Submission

040804-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R3892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130200644-130243178 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 130237520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119245 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026390] [ENSMUST00000119027] [ENSMUST00000119797] [ENSMUST00000148264]

AlphaFold

Q9JM13

Predicted Effect

probably benign
Transcript: ENSMUST00000026390

SMART Domains

Protein: ENSMUSP00000026390
Gene: ENSMUSG00000025340

Domain	Start	End	E-Value	Type
ZnF_A20	16	40	1.5e-12	SMART
low complexity region	56	80	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
VPS9	262	383	1.8e-29	SMART
coiled coil region	411	445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119027

SMART Domains

Protein: ENSMUSP00000112537
Gene: ENSMUSG00000025340

Domain	Start	End	E-Value	Type
ZnF_A20	16	40	2.35e-10	SMART
low complexity region	56	80	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
PDB:1TXU\|A	132	221	7e-51	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119542

Predicted Effect

probably benign
Transcript: ENSMUST00000119797

SMART Domains

Protein: ENSMUSP00000114103
Gene: ENSMUSG00000025340

Domain	Start	End	E-Value	Type
ZnF_A20	16	40	1.4e-12	SMART
low complexity region	56	80	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
VPS9	262	383	1.8e-29	SMART
coiled coil region	411	445	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125937

Predicted Effect

probably benign
Transcript: ENSMUST00000143865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147493

Predicted Effect

probably benign
Transcript: ENSMUST00000148264

SMART Domains

Protein: ENSMUSP00000119245
Gene: ENSMUSG00000025340

Domain	Start	End	E-Value	Type
ZnF_A20	16	40	2.35e-10	SMART
low complexity region	56	80	N/A	INTRINSIC
low complexity region	82	106	N/A	INTRINSIC
PDB:1TXU\|A	132	250	1e-72	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202729

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[supplied by OMIM, Mar 2010]
PHENOTYPE: Nullizygous mutations can cause neonatal or postnatal lethality associated with severe skin inflammation, high mast cell numbers and serum levels of IgE and histamine, and enhanced mast cell degranulation and release of mediators and cytokines in response to high affinity IgE receptor aggregation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	T	A	10: 50,718,289 (GRCm39)	I1994N	probably damaging	Het
BC061237	A	G	14: 44,738,730 (GRCm39)	D43G	probably benign	Het
Bckdhb	A	C	9: 83,870,863 (GRCm39)	E124D	probably damaging	Het
Card6	T	C	15: 5,128,778 (GRCm39)	T873A	probably benign	Het
Cbs	C	A	17: 31,835,048 (GRCm39)	C476F	probably benign	Het
Cckbr	A	C	7: 105,075,376 (GRCm39)	T49P	probably benign	Het
Cd248	C	T	19: 5,119,534 (GRCm39)	P461S	probably damaging	Het
Cdh16	T	C	8: 105,342,959 (GRCm39)	Y19C	probably damaging	Het
Clip2	T	C	5: 134,551,847 (GRCm39)	K92E	probably damaging	Het
Cnnm2	T	A	19: 46,750,232 (GRCm39)	C7*	probably null	Het
Ctnnb1	T	G	9: 120,779,580 (GRCm39)		probably benign	Het
Def8	T	C	8: 124,185,083 (GRCm39)		probably benign	Het
Deup1	A	G	9: 15,511,009 (GRCm39)	Y257H	probably damaging	Het
Diaph1	C	A	18: 38,033,691 (GRCm39)		probably benign	Het
Dmrta1	A	T	4: 89,579,831 (GRCm39)	I264F	possibly damaging	Het
Dnah12	A	G	14: 26,578,573 (GRCm39)	M491V	probably benign	Het
Eftud2	A	C	11: 102,737,013 (GRCm39)	I590S	probably damaging	Het
Ep300	T	C	15: 81,504,198 (GRCm39)		probably benign	Het
Fam209	A	G	2: 172,314,618 (GRCm39)	K36E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Flg	A	T	3: 93,186,833 (GRCm39)	Q95L	probably benign	Het
Gabrr2	A	G	4: 33,081,348 (GRCm39)	Y4C	probably damaging	Het
Ggcx	G	A	6: 72,395,355 (GRCm39)	V149M	probably damaging	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
H2-M10.1	T	A	17: 36,635,281 (GRCm39)	Q250L	possibly damaging	Het
Hecw2	A	T	1: 53,965,280 (GRCm39)	N515K	probably benign	Het
Hmcn1	A	T	1: 150,510,946 (GRCm39)	D3592E	probably damaging	Het
Klf5	T	A	14: 99,536,509 (GRCm39)	F27I	probably benign	Het
Krt1	T	A	15: 101,758,847 (GRCm39)	S106C	unknown	Het
Lrrc14b	T	C	13: 74,511,787 (GRCm39)	S98G	probably benign	Het
Lrrc7	A	G	3: 157,866,333 (GRCm39)	V1136A	probably benign	Het
Map3k11	G	T	19: 5,752,311 (GRCm39)	C831F	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Mipep	T	C	14: 61,046,444 (GRCm39)	L322P	probably damaging	Het
Mob1b	T	A	5: 88,901,061 (GRCm39)	I156K	probably damaging	Het
Myd88	T	C	9: 119,166,882 (GRCm39)	D225G	possibly damaging	Het
Nos1ap	T	C	1: 170,177,025 (GRCm39)	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,259,223 (GRCm39)	A342S	possibly damaging	Het
Or10ah1-ps1	G	T	5: 143,123,152 (GRCm39)	S290R	probably benign	Het
Or4f15	A	C	2: 111,813,486 (GRCm39)	M311R	probably benign	Het
Or7e165	T	G	9: 19,695,011 (GRCm39)	I194S	probably benign	Het
Pcdhb16	A	T	18: 37,612,422 (GRCm39)	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,882,534 (GRCm39)	H765P	probably benign	Het
Plxna4	C	A	6: 32,192,589 (GRCm39)	D791Y	probably damaging	Het
Pole	T	G	5: 110,484,305 (GRCm39)	I320M	probably damaging	Het
Psg23	G	T	7: 18,345,966 (GRCm39)	T243N	probably damaging	Het
Ptma-ps1	A	G	7: 23,763,543 (GRCm39)		noncoding transcript	Het
Ptprk	A	T	10: 28,139,617 (GRCm39)	Q114L	probably benign	Het
Pum1	T	C	4: 130,491,393 (GRCm39)	L774P	probably damaging	Het
Rasef	A	G	4: 73,698,634 (GRCm39)	V9A	probably benign	Het
Rcbtb1	T	A	14: 59,465,804 (GRCm39)	H382Q	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Sacs	T	G	14: 61,441,836 (GRCm39)	I1294R	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Snrnp48	G	A	13: 38,401,365 (GRCm39)	S204N	possibly damaging	Het
Sp3	A	G	2: 72,809,376 (GRCm39)		probably benign	Het
St8sia6	G	A	2: 13,677,335 (GRCm39)	H161Y	probably benign	Het
Strip2	A	T	6: 29,917,074 (GRCm39)		probably benign	Het
Trank1	T	C	9: 111,193,827 (GRCm39)	V617A	probably benign	Het
Uvssa	T	A	5: 33,547,096 (GRCm39)	S221T	probably benign	Het
Vmn2r75	A	T	7: 85,813,494 (GRCm39)	L436Q	probably null	Het
Wdfy4	T	C	14: 32,769,237 (GRCm39)	E2076G	probably damaging	Het
Zfp407	C	T	18: 84,578,477 (GRCm39)	V879I	probably damaging	Het
Zmym4	A	G	4: 126,798,269 (GRCm39)	I786T	probably benign	Het

Other mutations in Rabgef1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Rabgef1	APN	5	130,237,565 (GRCm39)	nonsense	probably null
IGL00964:Rabgef1	APN	5	130,219,863 (GRCm39)	missense	probably damaging	1.00
IGL01830:Rabgef1	APN	5	130,240,907 (GRCm39)	missense	possibly damaging	0.88
IGL02161:Rabgef1	APN	5	130,235,940 (GRCm39)	splice site	probably benign
IGL02231:Rabgef1	APN	5	130,240,816 (GRCm39)	missense	probably damaging	1.00
IGL02429:Rabgef1	APN	5	130,239,329 (GRCm39)	missense	possibly damaging	0.48
IGL02620:Rabgef1	APN	5	130,219,863 (GRCm39)	missense	probably damaging	1.00
IGL03005:Rabgef1	APN	5	130,237,638 (GRCm39)	missense	probably damaging	1.00
LCD18:Rabgef1	UTSW	5	130,187,586 (GRCm38)	frame shift	probably null
R0227:Rabgef1	UTSW	5	130,219,831 (GRCm39)	missense	probably damaging	1.00
R1028:Rabgef1	UTSW	5	130,241,703 (GRCm39)	nonsense	probably null
R1838:Rabgef1	UTSW	5	130,241,862 (GRCm39)	missense	probably benign	0.01
R2027:Rabgef1	UTSW	5	130,237,620 (GRCm39)	missense	possibly damaging	0.69
R2074:Rabgef1	UTSW	5	130,216,402 (GRCm39)	missense	probably benign	0.21
R2079:Rabgef1	UTSW	5	130,219,776 (GRCm39)	missense	probably damaging	0.99
R2355:Rabgef1	UTSW	5	130,240,928 (GRCm39)	missense	probably benign	0.29
R3625:Rabgef1	UTSW	5	130,240,961 (GRCm39)	critical splice donor site	probably null
R5060:Rabgef1	UTSW	5	130,240,844 (GRCm39)	missense	probably damaging	1.00
R5249:Rabgef1	UTSW	5	130,241,841 (GRCm39)	missense	probably benign	0.00
R6597:Rabgef1	UTSW	5	130,219,885 (GRCm39)	critical splice donor site	probably null
R7223:Rabgef1	UTSW	5	130,219,801 (GRCm39)	missense	probably benign	0.14
R7326:Rabgef1	UTSW	5	130,216,192 (GRCm39)	intron	probably benign
R8762:Rabgef1	UTSW	5	130,237,557 (GRCm39)	missense	possibly damaging	0.67
R9086:Rabgef1	UTSW	5	130,240,792 (GRCm39)	missense	probably benign	0.05
R9142:Rabgef1	UTSW	5	130,237,554 (GRCm39)	missense	possibly damaging	0.78
R9697:Rabgef1	UTSW	5	130,241,781 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CGCCATGTTTCCTAAAAGGCCTAG -3'
(R):5'- AGATGCTCCTGCTGCTACTG -3'

Sequencing Primer
(F):5'- GAGAATATATATCGGGTGCCTCTCC -3'
(R):5'- GAAGCTCACACGCGCTTAG -3'

Posted On

2015-04-17