Mutagenetix > Incidental Mutation

Incidental Mutation 'R5310:Rab3gap1'

404759

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap1

Ensembl Gene

ENSMUSG00000036104

Gene Name

RAB3 GTPase activating protein subunit 1

Synonyms

1700003B17Rik, 4732493F09Rik, p130

MMRRC Submission

042893-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.279) question?

Stock #

R5310 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127796510-127871605 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

G to A at 127870110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148357 (fasta)

Gene Model

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

AlphaFold

Q80UJ7

Predicted Effect

probably null
Transcript: ENSMUST00000037649

SMART Domains

Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104

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

probably null
Transcript: ENSMUST00000037649

SMART Domains

Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104

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: ENSMUST00000131884

Predicted Effect

probably null
Transcript: ENSMUST00000212506

Predicted Effect

probably null
Transcript: ENSMUST00000212506

Meta Mutation Damage Score

0.9593

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

100% (74/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,931,839 (GRCm39)	I31L	possibly damaging	Het
Abca17	T	C	17: 24,500,204 (GRCm39)	K1329R	probably benign	Het
Acap2	A	G	16: 30,952,427 (GRCm39)	Y197H	probably benign	Het
Adgrv1	A	G	13: 81,624,809 (GRCm39)	V3720A	possibly damaging	Het
Alms1	T	A	6: 85,592,350 (GRCm39)	S870T	possibly damaging	Het
Anapc4	A	G	5: 53,016,501 (GRCm39)	E493G	probably benign	Het
Ap2a1	A	G	7: 44,555,489 (GRCm39)		probably null	Het
Arhgef38	A	G	3: 132,822,227 (GRCm39)	L179P	probably damaging	Het
Bicral	T	C	17: 47,124,909 (GRCm39)	D630G	possibly damaging	Het
Ccdc97	A	T	7: 25,415,201 (GRCm39)	L154Q	probably damaging	Het
Cd40	T	C	2: 164,905,483 (GRCm39)		probably null	Het
Celsr1	T	A	15: 85,810,423 (GRCm39)	N2155I	possibly damaging	Het
Cemip	A	T	7: 83,641,241 (GRCm39)	L261H	probably damaging	Het
Cep57	G	A	9: 13,730,164 (GRCm39)	H98Y	probably damaging	Het
Chrna7	A	T	7: 62,755,805 (GRCm39)	L247Q	probably damaging	Het
Cyp2c40	T	A	19: 39,766,474 (GRCm39)	M374L	probably damaging	Het
Cyp4f13	T	C	17: 33,144,795 (GRCm39)	D372G	probably damaging	Het
Dazl	C	A	17: 50,588,311 (GRCm39)	S288I	probably damaging	Het
Dnah5	T	C	15: 28,311,474 (GRCm39)	F1818L	probably damaging	Het
Echdc1	T	C	10: 29,210,204 (GRCm39)	V143A	possibly damaging	Het
Eif4enif1	T	A	11: 3,192,687 (GRCm39)	H838Q	probably damaging	Het
Erich3	A	T	3: 154,469,217 (GRCm39)	D1223V	probably damaging	Het
Fbxl2	A	G	9: 113,815,576 (GRCm39)	I229T	possibly damaging	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Ggnbp2	A	G	11: 84,760,794 (GRCm39)	M1T	probably null	Het
Glb1l2	C	T	9: 26,708,162 (GRCm39)		probably benign	Het
Gnl2	A	G	4: 124,946,633 (GRCm39)	K618R	probably benign	Het
Greb1	A	T	12: 16,766,760 (GRCm39)	I346K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Gtse1	A	G	15: 85,757,993 (GRCm39)	Q533R	probably benign	Het
Hemgn	A	G	4: 46,403,927 (GRCm39)	S23P	possibly damaging	Het
Htr6	G	T	4: 138,788,977 (GRCm39)	H359Q	probably damaging	Het
Ifit1	T	C	19: 34,626,204 (GRCm39)	F447L	probably benign	Het
Kansl1	T	C	11: 104,315,684 (GRCm39)	Y118C	possibly damaging	Het
Khk	G	A	5: 31,084,373 (GRCm39)	V118M	probably benign	Het
Klra17	T	A	6: 129,845,671 (GRCm39)	K181M	probably damaging	Het
Lbh	T	C	17: 73,228,287 (GRCm39)		probably null	Het
Lmo2	T	C	2: 103,806,445 (GRCm39)	I108T	probably damaging	Het
Maco1	T	C	4: 134,564,330 (GRCm39)		probably benign	Het
Mgat5	T	A	1: 127,315,251 (GRCm39)		probably null	Het
Mink1	T	C	11: 70,498,169 (GRCm39)	V525A	probably benign	Het
Myo10	C	A	15: 25,778,164 (GRCm39)		probably null	Het
Nlrp2	T	C	7: 5,328,007 (GRCm39)	N682S	probably benign	Het
Nr2e3	G	A	9: 59,856,617 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,171 (GRCm39)	C129R	probably damaging	Het
Or6b2b	T	C	1: 92,418,758 (GRCm39)	T240A	probably damaging	Het
Pabpc4l	T	C	3: 46,401,276 (GRCm39)	T123A	probably benign	Het
Pfas	G	A	11: 68,878,847 (GRCm39)	S1319F	probably damaging	Het
Phf3	T	C	1: 30,842,887 (GRCm39)	K2024R	probably damaging	Het
Pld4	G	A	12: 112,735,046 (GRCm39)	C501Y	probably damaging	Het
Psg16	C	T	7: 16,824,560 (GRCm39)	R115W	probably damaging	Het
Rimkla	C	A	4: 119,335,049 (GRCm39)	K111N	probably damaging	Het
Rrm2b	T	C	15: 37,927,571 (GRCm39)	E113G	probably damaging	Het
Rspry1	C	T	8: 95,349,813 (GRCm39)	T67I	probably benign	Het
Skint6	C	A	4: 113,041,965 (GRCm39)	E292*	probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc13a1	A	G	6: 24,134,373 (GRCm39)	M170T	probably benign	Het
Slc15a5	T	C	6: 138,050,034 (GRCm39)	N127S	probably benign	Het
Slc39a10	G	A	1: 46,875,285 (GRCm39)	H6Y	probably damaging	Het
Spata31e2	A	C	1: 26,724,169 (GRCm39)	V337G	probably benign	Het
Sugct	A	T	13: 17,427,145 (GRCm39)	C338*	probably null	Het
Tbk1	A	T	10: 121,391,956 (GRCm39)	M486K	probably benign	Het
Terf1	A	T	1: 15,875,909 (GRCm39)	E3V	probably damaging	Het
Thoc5	T	A	11: 4,860,648 (GRCm39)	Y246N	probably damaging	Het
Tmem167b	G	A	3: 108,469,415 (GRCm39)		probably benign	Het
Tmtc1	T	A	6: 148,256,910 (GRCm39)		probably benign	Het
Zfp322a	A	T	13: 23,541,532 (GRCm39)	M70K	possibly damaging	Het
Zfp979	A	T	4: 147,698,375 (GRCm39)	H111Q	possibly 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
R4917:Rab3gap1	UTSW	1	127,816,914 (GRCm39)	missense	possibly damaging	0.75
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
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'- AATGCCCTTGCTTTTCAGAGC -3'
(R):5'- TGTACATACGCTGTGGCAG -3'

Sequencing Primer
(F):5'- TGCCTCACTAGTGCCCAAG -3'
(R):5'- GGCAGGGCCTTGGAGTAG -3'

Posted On

2016-07-22