Mutagenetix > Incidental Mutation

Incidental Mutation 'R4917:Rab3gap1'

378252

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap1

Ensembl Gene

ENSMUSG00000036104

Gene Name

RAB3 GTPase activating protein subunit 1

Synonyms

1700003B17Rik, 4732493F09Rik, p130

MMRRC Submission

042519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R4917 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127796510-127871605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127816914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 58 (W58R)

Ref Sequence

ENSEMBL: ENSMUSP00000148357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037649] [ENSMUST00000212506]

AlphaFold

Q80UJ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037649
AA Change: W58R

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104
AA Change: W58R

Domain	Start	End	E-Value	Type
low complexity region	254	263	N/A	INTRINSIC
low complexity region	574	587	N/A	INTRINSIC
Pfam:Rab3-GTPase_cat	612	769	2.9e-67	PFAM
low complexity region	856	868	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142662

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212506
AA Change: W58R

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)

Meta Mutation Damage Score

0.9637

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.1%
20x: 91.7%

Validation Efficiency

97% (111/114)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the catalytic subunit of a Rab GTPase activating protein. The encoded protein forms a heterodimer with a non-catalytic subunit to specifically regulate the activity of members of the Rab3 subfamily of small G proteins. This protein mediates the hydrolysis of GTP bound Rab3 to the GDP bound form. Mutations in this gene are associated with Warburg micro syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,658,996 (GRCm39)	V2783I	probably benign	Het
Ago4	A	C	4: 126,400,635 (GRCm39)	C693G	probably damaging	Het
Apobec2	T	C	17: 48,730,153 (GRCm39)	E171G	probably benign	Het
Arfgef3	T	A	10: 18,492,638 (GRCm39)	I1258F	probably damaging	Het
Arhgef40	A	G	14: 52,227,556 (GRCm39)	E434G	probably damaging	Het
Bcas1	T	C	2: 170,220,806 (GRCm39)	D324G	probably damaging	Het
Bdp1	A	T	13: 100,191,713 (GRCm39)	V1422E	probably damaging	Het
Bfsp1	C	T	2: 143,669,391 (GRCm39)	R396Q	probably benign	Het
Bpifb9b	T	A	2: 154,156,026 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,029,302 (GRCm39)		probably null	Het
Casp8	T	C	1: 58,866,377 (GRCm39)	F126S	probably damaging	Het
Cdh26	T	C	2: 178,091,614 (GRCm39)	S58P	probably benign	Het
Cds2	A	G	2: 132,140,398 (GRCm39)	T182A	probably damaging	Het
Cfap157	C	T	2: 32,669,965 (GRCm39)	R206H	probably benign	Het
Col7a1	G	A	9: 108,795,532 (GRCm39)	G1529E	unknown	Het
Crybg3	A	G	16: 59,350,782 (GRCm39)	F2567L	probably benign	Het
Cyp2e1	T	C	7: 140,354,527 (GRCm39)	S393P	possibly damaging	Het
D5Ertd579e	A	G	5: 36,773,160 (GRCm39)	Y412H	probably damaging	Het
Dclk2	A	T	3: 86,732,049 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,463,450 (GRCm39)	C414*	probably null	Het
Dip2c	T	A	13: 9,671,905 (GRCm39)		probably null	Het
Dmtn	G	T	14: 70,843,159 (GRCm39)	P283Q	probably damaging	Het
Dspp	C	A	5: 104,325,789 (GRCm39)	D717E	unknown	Het
Efcab11	T	C	12: 99,685,321 (GRCm39)	D151G	probably damaging	Het
Egfem1	T	C	3: 29,206,042 (GRCm39)	V93A	probably damaging	Het
Ehbp1	T	C	11: 22,096,592 (GRCm39)	D299G	probably benign	Het
Erlec1	A	G	11: 30,884,710 (GRCm39)	Y448H	possibly damaging	Het
Fer1l4	T	C	2: 155,873,220 (GRCm39)	K1287E	probably benign	Het
Fn1	A	T	1: 71,634,968 (GRCm39)		probably null	Het
Fut8	G	T	12: 77,521,818 (GRCm39)	A486S	probably damaging	Het
Gfra1	A	T	19: 58,255,522 (GRCm39)	S308R	probably damaging	Het
Gm10764	A	G	10: 87,126,579 (GRCm39)		noncoding transcript	Het
Gm5958	C	A	14: 100,073,189 (GRCm39)		noncoding transcript	Het
Gm6788	C	T	19: 28,740,664 (GRCm39)		noncoding transcript	Het
Gsdmd	A	G	15: 75,736,241 (GRCm39)	I123M	probably benign	Het
H2bc13	A	T	13: 21,900,189 (GRCm39)	V42E	probably damaging	Het
Hsf4	A	G	8: 105,999,367 (GRCm39)	E235G	probably benign	Het
Ighv1-83	T	C	12: 115,927,580 (GRCm39)	I57V	probably benign	Het
Inhca	A	C	9: 103,129,054 (GRCm39)	Y235*	probably null	Het
Inpp5f	A	T	7: 128,286,840 (GRCm39)	D573V	probably damaging	Het
Kcnj1	T	A	9: 32,308,056 (GRCm39)	L160Q	probably damaging	Het
Kcnmb3	A	T	3: 32,526,653 (GRCm39)	C179*	probably null	Het
Lrig1	A	G	6: 94,586,700 (GRCm39)	F659L	probably damaging	Het
Lrrc3	T	C	10: 77,737,253 (GRCm39)	D61G	probably benign	Het
Marchf4	T	G	1: 72,467,938 (GRCm39)	S365R	probably benign	Het
Mccc1	A	G	3: 36,051,703 (GRCm39)	L32S	probably benign	Het
Mei4	A	G	9: 81,772,216 (GRCm39)	T10A	probably benign	Het
Meis1	T	C	11: 18,959,222 (GRCm39)		probably benign	Het
Mllt1	T	C	17: 57,206,813 (GRCm39)	T344A	probably benign	Het
Mmp11	C	T	10: 75,761,419 (GRCm39)	A31T	probably damaging	Het
Mrps28	A	G	3: 8,947,614 (GRCm39)		probably benign	Het
Mthfsl	A	C	9: 88,597,550 (GRCm39)	L67V	probably damaging	Het
Ncaph2	A	G	15: 89,244,574 (GRCm39)	I11V	probably damaging	Het
Ncdn	G	A	4: 126,643,731 (GRCm39)	L364F	possibly damaging	Het
Nfat5	T	A	8: 108,051,284 (GRCm39)	D47E	probably damaging	Het
Or51g2	A	T	7: 102,622,614 (GRCm39)	I195N	possibly damaging	Het
Or5b106	T	A	19: 13,123,355 (GRCm39)	I223L	possibly damaging	Het
Or5bw2	C	T	7: 6,573,643 (GRCm39)	L218F	possibly damaging	Het
Pcdhb3	A	T	18: 37,435,452 (GRCm39)	I473F	probably damaging	Het
Pcdhgb8	A	T	18: 37,897,191 (GRCm39)	N754Y	probably damaging	Het
Pgbd5	C	A	8: 125,097,305 (GRCm39)	K408N	probably benign	Het
Pnisr	A	G	4: 21,859,330 (GRCm39)		probably benign	Het
Poldip3	A	T	15: 83,016,776 (GRCm39)		probably null	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Psmc3	A	G	2: 90,896,317 (GRCm39)		probably benign	Het
Rere	T	A	4: 150,703,601 (GRCm39)	W1528R	probably damaging	Het
Rhot1	A	G	11: 80,100,027 (GRCm39)		probably benign	Het
Rsf1	T	C	7: 97,311,612 (GRCm39)	S781P	probably damaging	Het
Rtraf	T	C	14: 19,873,784 (GRCm39)	K5R	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Ryr2	A	G	13: 11,609,872 (GRCm39)	V753A	probably damaging	Het
Ryr3	T	C	2: 112,661,530 (GRCm39)	H1820R	probably damaging	Het
Schip1	A	T	3: 68,315,818 (GRCm39)		probably benign	Het
Scin	T	A	12: 40,119,373 (GRCm39)	I552F	possibly damaging	Het
Selp	A	C	1: 163,972,475 (GRCm39)	T705P	probably damaging	Het
Sh3rf3	A	T	10: 58,842,925 (GRCm39)	D297V	probably damaging	Het
Slc24a4	T	A	12: 102,231,203 (GRCm39)		probably null	Het
Slc2a9	C	A	5: 38,574,603 (GRCm39)	L224F	probably benign	Het
Slc35e2	C	A	4: 155,700,693 (GRCm39)	P272Q	probably damaging	Het
Slf2	T	G	19: 44,960,100 (GRCm39)	D1022E	probably damaging	Het
Syne1	C	T	10: 5,007,909 (GRCm39)	C7932Y	probably damaging	Het
Tc2n	A	G	12: 101,631,954 (GRCm39)	L301P	probably damaging	Het
Tchhl1	A	G	3: 93,377,623 (GRCm39)	D109G	possibly damaging	Het
Thoc7	T	C	14: 13,953,154 (GRCm38)	I83V	probably damaging	Het
Tm4sf1	C	T	3: 57,200,448 (GRCm39)	G85S	probably damaging	Het
Tmem63a	T	A	1: 180,794,086 (GRCm39)	I541N	probably benign	Het
Tmpo	A	G	10: 90,985,411 (GRCm39)	V357A	probably damaging	Het
Unc80	T	C	1: 66,685,709 (GRCm39)	Y2278H	possibly damaging	Het
Vmn1r26	A	G	6: 57,985,808 (GRCm39)	F127S	probably damaging	Het
Vmn2r8	A	T	5: 108,945,264 (GRCm39)	M781K	probably damaging	Het
Vps36	T	G	8: 22,708,280 (GRCm39)	M348R	possibly damaging	Het
Vps45	T	C	3: 95,926,943 (GRCm39)	T535A	probably damaging	Het

Other mutations in Rab3gap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Rab3gap1	APN	1	127,858,124 (GRCm39)	splice site	probably benign
IGL01467:Rab3gap1	APN	1	127,858,121 (GRCm39)	splice site	probably null
IGL01554:Rab3gap1	APN	1	127,855,745 (GRCm39)	missense	possibly damaging	0.82
IGL01773:Rab3gap1	APN	1	127,845,958 (GRCm39)	missense	possibly damaging	0.64
IGL01866:Rab3gap1	APN	1	127,818,817 (GRCm39)	missense	probably damaging	1.00
IGL02078:Rab3gap1	APN	1	127,796,652 (GRCm39)	splice site	probably benign
IGL02251:Rab3gap1	APN	1	127,865,237 (GRCm39)	missense	probably benign	0.25
IGL02268:Rab3gap1	APN	1	127,796,695 (GRCm39)	missense	probably damaging	1.00
IGL02274:Rab3gap1	APN	1	127,866,817 (GRCm39)	missense	probably benign
IGL02372:Rab3gap1	APN	1	127,847,298 (GRCm39)	splice site	probably benign
IGL02399:Rab3gap1	APN	1	127,855,840 (GRCm39)	missense	possibly damaging	0.93
IGL02629:Rab3gap1	APN	1	127,837,600 (GRCm39)	missense	probably benign	0.01
IGL02700:Rab3gap1	APN	1	127,866,342 (GRCm39)	missense	probably benign	0.06
IGL02748:Rab3gap1	APN	1	127,865,198 (GRCm39)	missense	probably damaging	0.99
little_bighorn	UTSW	1	127,818,835 (GRCm39)	critical splice donor site	probably null
IGL03048:Rab3gap1	UTSW	1	127,865,214 (GRCm39)	missense	probably damaging	1.00
R0828:Rab3gap1	UTSW	1	127,865,922 (GRCm39)	splice site	probably benign
R1382:Rab3gap1	UTSW	1	127,870,333 (GRCm39)	missense	probably damaging	0.97
R1729:Rab3gap1	UTSW	1	127,870,223 (GRCm39)	missense	probably damaging	1.00
R1809:Rab3gap1	UTSW	1	127,862,251 (GRCm39)	missense	probably damaging	0.99
R1990:Rab3gap1	UTSW	1	127,870,166 (GRCm39)	missense	possibly damaging	0.56
R2001:Rab3gap1	UTSW	1	127,831,456 (GRCm39)	missense	possibly damaging	0.95
R2041:Rab3gap1	UTSW	1	127,865,727 (GRCm39)	missense	possibly damaging	0.78
R3955:Rab3gap1	UTSW	1	127,862,254 (GRCm39)	missense	probably damaging	1.00
R4192:Rab3gap1	UTSW	1	127,853,207 (GRCm39)	intron	probably benign
R4243:Rab3gap1	UTSW	1	127,865,304 (GRCm39)	critical splice donor site	probably null
R4244:Rab3gap1	UTSW	1	127,865,304 (GRCm39)	critical splice donor site	probably null
R4354:Rab3gap1	UTSW	1	127,843,378 (GRCm39)	missense	probably benign	0.02
R4592:Rab3gap1	UTSW	1	127,852,996 (GRCm39)	intron	probably benign
R4622:Rab3gap1	UTSW	1	127,870,156 (GRCm39)	missense	probably benign	0.00
R4738:Rab3gap1	UTSW	1	127,862,173 (GRCm39)	missense	probably damaging	0.99
R4918:Rab3gap1	UTSW	1	127,816,914 (GRCm39)	missense	possibly damaging	0.75
R5090:Rab3gap1	UTSW	1	127,843,415 (GRCm39)	missense	probably benign	0.35
R5197:Rab3gap1	UTSW	1	127,816,931 (GRCm39)	missense	probably benign
R5310:Rab3gap1	UTSW	1	127,870,110 (GRCm39)	critical splice acceptor site	probably null
R5580:Rab3gap1	UTSW	1	127,858,727 (GRCm39)	missense	probably benign	0.01
R6670:Rab3gap1	UTSW	1	127,858,512 (GRCm39)	missense	probably benign
R6825:Rab3gap1	UTSW	1	127,858,158 (GRCm39)	missense	probably damaging	1.00
R7024:Rab3gap1	UTSW	1	127,818,835 (GRCm39)	critical splice donor site	probably null
R7274:Rab3gap1	UTSW	1	127,855,249 (GRCm39)	missense	probably benign
R7380:Rab3gap1	UTSW	1	127,865,727 (GRCm39)	missense	possibly damaging	0.78
R7583:Rab3gap1	UTSW	1	127,858,612 (GRCm39)	missense	probably benign	0.03
R7654:Rab3gap1	UTSW	1	127,837,652 (GRCm39)	missense	probably damaging	1.00
R8309:Rab3gap1	UTSW	1	127,837,655 (GRCm39)	missense	possibly damaging	0.82
R8392:Rab3gap1	UTSW	1	127,866,370 (GRCm39)	missense	probably benign	0.01
R8864:Rab3gap1	UTSW	1	127,837,630 (GRCm39)	missense	probably damaging	1.00
R9190:Rab3gap1	UTSW	1	127,858,495 (GRCm39)	missense	probably benign
R9799:Rab3gap1	UTSW	1	127,858,489 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGACTCCAAATAGCCACTGTG -3'
(R):5'- TCAGATGCAGTACTAGCACATAAG -3'

Sequencing Primer
(F):5'- TGACTCCAAATAGCCACTGTGATAAG -3'
(R):5'- CAGGAGACTCTTGTACAAGA -3'

Posted On

2016-04-15