Mutagenetix > Incidental Mutation

Incidental Mutation 'R7326:Rabgef1'

568893

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

045378-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.853) question?

Stock #

R7326 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130200644-130243178 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 130216192 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

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,984,226 (GRCm39)	V652A	probably benign	Het
Acvrl1	G	T	15: 101,038,953 (GRCm39)	V417L	probably damaging	Het
Add1	A	G	5: 34,776,715 (GRCm39)	R479G	probably benign	Het
Adgb	A	T	10: 10,276,318 (GRCm39)	L350Q	possibly damaging	Het
Adgrl2	A	T	3: 148,552,506 (GRCm39)	S666T	probably benign	Het
Akap9	T	A	5: 4,095,930 (GRCm39)	D2268E	possibly damaging	Het
Amigo3	C	A	9: 107,931,265 (GRCm39)	H229Q	probably benign	Het
Ano6	G	C	15: 95,762,125 (GRCm39)	Q31H	possibly damaging	Het
Ap4m1	G	A	5: 138,173,281 (GRCm39)	D180N	probably damaging	Het
Apc2	A	T	10: 80,147,574 (GRCm39)	D876V	probably damaging	Het
Apcdd1	T	A	18: 63,085,259 (GRCm39)	Y485*	probably null	Het
Aqp1	G	T	6: 55,313,836 (GRCm39)	D121Y	probably benign	Het
Bicd2	C	A	13: 49,523,085 (GRCm39)	R141S	probably benign	Het
Brpf3	C	A	17: 29,025,267 (GRCm39)	H113Q	probably benign	Het
Cacng2	A	T	15: 77,897,520 (GRCm39)	Y96*	probably null	Het
Catsperg1	G	T	7: 28,910,184 (GRCm39)	N52K	possibly damaging	Het
Celsr2	A	C	3: 108,302,311 (GRCm39)	F2606V	possibly damaging	Het
Cerkl	A	T	2: 79,162,949 (GRCm39)	N516K	probably benign	Het
Ciita	G	A	16: 10,330,152 (GRCm39)	R812H	probably damaging	Het
Cldn3	T	A	5: 135,015,837 (GRCm39)	L180Q	probably damaging	Het
Cnot6l	T	C	5: 96,225,158 (GRCm39)	I512V	probably benign	Het
Col5a2	A	T	1: 45,482,027 (GRCm39)	D32E	unknown	Het
Coro7	A	G	16: 4,449,912 (GRCm39)	V616A	probably damaging	Het
Cyp4f18	T	C	8: 72,742,498 (GRCm39)	D494G	probably benign	Het
Ddx39a	T	A	8: 84,449,100 (GRCm39)	V296E	probably benign	Het
Dgkg	A	T	16: 22,367,440 (GRCm39)	H593Q	probably damaging	Het
Dhx16	T	C	17: 36,197,052 (GRCm39)	L645P	probably damaging	Het
Dnah14	A	G	1: 181,425,968 (GRCm39)	M171V	probably benign	Het
Dnhd1	G	A	7: 105,370,137 (GRCm39)	V4521I	probably damaging	Het
Dok7	A	T	5: 35,221,866 (GRCm39)	M60L	probably benign	Het
Donson	A	T	16: 91,485,599 (GRCm39)	M1K	probably null	Het
Dsp	C	T	13: 38,376,859 (GRCm39)	T1548M	probably benign	Het
Dyrk1a	A	G	16: 94,492,902 (GRCm39)	T712A	probably damaging	Het
Eef2	A	G	10: 81,017,116 (GRCm39)	T708A	probably benign	Het
Epn3	G	A	11: 94,384,606 (GRCm39)	T289I	probably benign	Het
Fam171a1	C	T	2: 3,227,509 (GRCm39)	R881*	probably null	Het
Fat2	T	A	11: 55,173,130 (GRCm39)	R2528W	probably damaging	Het
Fbxl9	T	C	8: 106,039,530 (GRCm39)	D127G	probably damaging	Het
Fgfr1	T	G	8: 26,063,855 (GRCm39)	F707C	probably damaging	Het
Frem2	G	C	3: 53,562,174 (GRCm39)	P778A	probably damaging	Het
Ganc	A	G	2: 120,261,080 (GRCm39)	Y255C	probably damaging	Het
Garin4	G	A	1: 190,896,550 (GRCm39)	T31M	probably benign	Het
Ginm1	A	T	10: 7,653,614 (GRCm39)	Y65*	probably null	Het
Gm11559	T	A	11: 99,755,707 (GRCm39)	C119S	unknown	Het
Gnai1	T	A	5: 18,494,549 (GRCm39)	H188L		Het
H2bc6	T	C	13: 23,769,906 (GRCm39)	K12E	probably benign	Het
H6pd	C	T	4: 150,080,807 (GRCm39)	A13T	probably benign	Het
Hoxd12	A	T	2: 74,505,590 (GRCm39)	T54S	possibly damaging	Het
Hs3st5	T	A	10: 36,709,190 (GRCm39)	L242M	probably damaging	Het
Il9r	C	A	11: 32,144,389 (GRCm39)	V139L	possibly damaging	Het
Immt	A	G	6: 71,823,353 (GRCm39)	D68G	probably damaging	Het
Itsn2	A	G	12: 4,682,985 (GRCm39)	I304V	unknown	Het
Lgr4	G	A	2: 109,826,974 (GRCm39)	W159*	probably null	Het
Lin52	G	A	12: 84,504,728 (GRCm39)	G38S	probably damaging	Het
Lpgat1	A	T	1: 191,451,565 (GRCm39)	M64L	probably benign	Het
Lrrc10b	G	T	19: 10,434,142 (GRCm39)	R180S	possibly damaging	Het
Lrrc36	A	T	8: 106,176,401 (GRCm39)	L258F	possibly damaging	Het
Ltbp4	T	A	7: 27,029,180 (GRCm39)	Q235L	unknown	Het
Maml2	A	G	9: 13,532,903 (GRCm39)	M706V		Het
Mc5r	G	T	18: 68,472,739 (GRCm39)	C366F	probably damaging	Het
Mlip	T	C	9: 77,072,124 (GRCm39)	R244G	probably benign	Het
Muc16	T	A	9: 18,496,309 (GRCm39)	R6658S	probably benign	Het
Mup4	G	T	4: 59,960,046 (GRCm39)	H73N	possibly damaging	Het
Nf1	A	G	11: 79,455,769 (GRCm39)	M565V	probably benign	Het
Nphp1	G	A	2: 127,603,137 (GRCm39)	T382I	possibly damaging	Het
Nrcam	C	T	12: 44,610,809 (GRCm39)	T503I	possibly damaging	Het
Nwd2	A	T	5: 63,957,752 (GRCm39)	N361Y	probably damaging	Het
Or10a3	A	T	7: 108,480,023 (GRCm39)	H263Q	probably damaging	Het
Or4f15	A	T	2: 111,813,672 (GRCm39)	L249*	probably null	Het
Or5ak23	A	T	2: 85,244,788 (GRCm39)	V145E	probably damaging	Het
Or6f1	A	G	7: 85,970,782 (GRCm39)	I126T	probably damaging	Het
Or7g21	A	G	9: 19,032,965 (GRCm39)	Y235C	probably benign	Het
Or8j3	A	G	2: 86,028,917 (GRCm39)	Y60H	probably damaging	Het
Or9a7	G	T	6: 40,521,829 (GRCm39)	A28E	probably damaging	Het
Orc5	A	G	5: 22,728,582 (GRCm39)	F308L	probably benign	Het
Padi1	T	A	4: 140,559,715 (GRCm39)	Y54F	probably benign	Het
Parp1	A	G	1: 180,396,665 (GRCm39)	K23E	possibly damaging	Het
Pate1	A	T	9: 35,597,268 (GRCm39)	V79D	possibly damaging	Het
Pcdh18	T	C	3: 49,711,309 (GRCm39)	H2R	probably benign	Het
Pcnx2	G	A	8: 126,613,822 (GRCm39)	S543F	probably damaging	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pnkp	T	A	7: 44,509,158 (GRCm39)	F169L	probably damaging	Het
Ppp6r3	A	T	19: 3,557,325 (GRCm39)	N254K	probably damaging	Het
Psd	A	G	19: 46,312,893 (GRCm39)	L159P	probably benign	Het
Ptprf	A	G	4: 118,088,866 (GRCm39)	Y646H	probably damaging	Het
Rab3ip	A	T	10: 116,773,538 (GRCm39)	S92T	probably benign	Het
Ralgapa1	C	A	12: 55,755,789 (GRCm39)	W1129L	probably damaging	Het
Rhpn2	T	A	7: 35,084,888 (GRCm39)	L594Q	probably benign	Het
Rnf38	C	A	4: 44,158,989 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,753,080 (GRCm39)	H1747L	possibly damaging	Het
Sec16a	A	G	2: 26,329,729 (GRCm39)	L13P	unknown	Het
Spef1l	A	T	7: 139,558,458 (GRCm39)		probably null	Het
Sppl3	C	A	5: 115,220,394 (GRCm39)	T102K	probably damaging	Het
Srgap2	A	T	1: 131,219,351 (GRCm39)	Y264*	probably null	Het
Stxbp2	T	C	8: 3,691,151 (GRCm39)	M465T		Het
Sumf2	A	G	5: 129,891,551 (GRCm39)	K305R	probably benign	Het
Susd2	T	A	10: 75,478,399 (GRCm39)	Y59F	probably benign	Het
Taco1	T	C	11: 105,963,443 (GRCm39)	V198A	probably benign	Het
Tas2r136	A	T	6: 132,754,869 (GRCm39)	M86K	possibly damaging	Het
Tbc1d10c	T	C	19: 4,234,897 (GRCm39)	E388G	possibly damaging	Het
Tmem132c	C	T	5: 127,641,123 (GRCm39)	T1098I	possibly damaging	Het
Trim3	G	T	7: 105,267,007 (GRCm39)	Y457*	probably null	Het
Ttc38	A	G	15: 85,737,062 (GRCm39)	T316A	probably benign	Het
Ubqln4	T	A	3: 88,463,217 (GRCm39)	N127K	probably benign	Het
Wdr91	A	T	6: 34,881,561 (GRCm39)	F262Y	probably damaging	Het
Zdhhc6	A	T	19: 55,291,187 (GRCm39)	C343S	possibly damaging	Het
Zfp248	A	G	6: 118,407,170 (GRCm39)	C140R	probably damaging	Het
Zfp266	T	C	9: 20,413,391 (GRCm39)	T90A	probably benign	Het
Zfp407	A	T	18: 84,577,167 (GRCm39)	D1315E	possibly damaging	Het
Zfp644	T	C	5: 106,786,143 (GRCm39)	S135G	probably benign	Het
Zscan29	A	T	2: 120,991,469 (GRCm39)	I773N	probably damaging	Het
Zswim5	T	A	4: 116,838,031 (GRCm39)	V787E	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
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
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
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'- GGTGCTCTGTGAATTTCAGACCTC -3'
(R):5'- GGTCATTTACCGTTCTGCCAG -3'

Sequencing Primer
(F):5'- TCAGACCTCAGATGAAGTCGTTC -3'
(R):5'- GGGCCTTGTGGTACTCCTC -3'

Posted On

2019-09-13