Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Rabgef1'

293043

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rabgef1

Ensembl Gene

ENSMUSG00000025340

Gene Name

RAB guanine nucleotide exchange factor (GEF) 1

Synonyms

Ras negative regulator Rabex-5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.850) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

130200644-130243178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130239329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 265 (S265P)

Ref Sequence

ENSEMBL: ENSMUSP00000114103 (fasta)

Gene Model

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

AlphaFold

Q9JM13

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026390
AA Change: S265P

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000026390
Gene: ENSMUSG00000025340
AA Change: S265P

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

possibly damaging
Transcript: ENSMUST00000119797
AA Change: S265P

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114103
Gene: ENSMUSG00000025340
AA Change: S265P

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

noncoding transcript
Transcript: ENSMUST00000202729

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

Coding Region Coverage

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Swap70	T	A	7: 109,863,179 (GRCm39)	N169K	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	possibly damaging	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
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
R3892:Rabgef1	UTSW	5	130,237,520 (GRCm39)	splice site	probably benign
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

Posted On

2015-04-16