Mutagenetix > Incidental Mutation

Incidental Mutation 'R4738:Rab3gap1'

359390

Institutional Source

Beutler Lab

Gene Symbol

Rab3gap1

Ensembl Gene

ENSMUSG00000036104

Gene Name

RAB3 GTPase activating protein subunit 1

Synonyms

1700003B17Rik, 4732493F09Rik, p130

MMRRC Submission

041964-MU

Accession Numbers

Essential gene?

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

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127796510-127871605 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127862173 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 648 (E648G)

Ref Sequence

ENSEMBL: ENSMUSP00000042070 (fasta)

Gene Model

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

AlphaFold

Q80UJ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037649
AA Change: E648G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042070
Gene: ENSMUSG00000036104
AA Change: E648G

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 damaging
Transcript: ENSMUST00000212506
AA Change: E648G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,121,849 (GRCm39)	I176T	probably benign	Het
Abtb3	C	T	10: 85,463,112 (GRCm39)	Q626*	probably null	Het
Angpt2	C	T	8: 18,791,075 (GRCm39)	D74N	probably benign	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Areg	T	C	5: 91,294,583 (GRCm39)	I247T	possibly damaging	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,556,062 (GRCm39)	S246T	probably benign	Het
Atp8b1	T	C	18: 64,678,251 (GRCm39)	R882G	probably benign	Het
Atp9a	A	G	2: 168,510,101 (GRCm39)	V444A	probably benign	Het
Babam2	T	A	5: 32,058,486 (GRCm39)	Y211N	probably damaging	Het
Ccdc127	T	G	13: 74,505,187 (GRCm39)		probably benign	Het
Cep192	A	T	18: 68,017,901 (GRCm39)	K2500*	probably null	Het
Cnot4	T	C	6: 35,028,311 (GRCm39)	N435S	probably benign	Het
Col12a1	T	C	9: 79,606,564 (GRCm39)	I620V	probably damaging	Het
Cyth4	G	A	15: 78,490,074 (GRCm39)	M62I	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dchs1	C	T	7: 105,407,880 (GRCm39)	R1984Q	probably damaging	Het
Depdc5	A	G	5: 33,132,666 (GRCm39)	M1237V	probably benign	Het
Disp2	A	G	2: 118,620,807 (GRCm39)	Y513C	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,415,833 (GRCm39)	M384K	probably benign	Het
Emc1	G	T	4: 139,089,513 (GRCm39)	G227V	possibly damaging	Het
Eri2	A	G	7: 119,386,955 (GRCm39)		probably null	Het
Frzb	A	G	2: 80,254,941 (GRCm39)		probably null	Het
Ganc	T	A	2: 120,283,075 (GRCm39)	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,031,729 (GRCm39)		probably benign	Het
Gm3086	A	T	12: 70,016,155 (GRCm39)		probably benign	Het
Gsdmc2	A	T	15: 63,698,650 (GRCm39)	Y315*	probably null	Het
Haus6	A	G	4: 86,518,986 (GRCm39)		probably null	Het
Hhip	C	T	8: 80,719,199 (GRCm39)	D443N	probably damaging	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Kank2	T	C	9: 21,685,915 (GRCm39)	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,329,907 (GRCm39)	R345S	probably benign	Het
Larp7	A	G	3: 127,339,694 (GRCm39)		probably null	Het
Lgals12	A	G	19: 7,581,464 (GRCm39)	V81A	probably benign	Het
Lhx9	A	G	1: 138,760,486 (GRCm39)	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,264,456 (GRCm39)	H213L	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Myo16	G	T	8: 10,423,527 (GRCm39)	G288W	probably damaging	Het
Neb	A	C	2: 52,077,494 (GRCm39)	S1846A	probably damaging	Het
Nr3c2	T	C	8: 77,635,936 (GRCm39)	S346P	possibly damaging	Het
Obi1	C	T	14: 104,747,819 (GRCm39)	D43N	probably damaging	Het
Or10h5	A	G	17: 33,434,784 (GRCm39)	F178S	probably benign	Het
Or1e1c	G	T	11: 73,266,176 (GRCm39)	L200F	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or5h19	T	C	16: 58,856,558 (GRCm39)	I181V	probably benign	Het
Or5p63	A	T	7: 107,811,201 (GRCm39)	N178K	probably damaging	Het
Osbpl10	A	G	9: 115,045,642 (GRCm39)	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,887,234 (GRCm39)	V210A	probably damaging	Het
Pam	A	T	1: 97,850,857 (GRCm39)	V167D	probably damaging	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Pbx4	C	T	8: 70,317,619 (GRCm39)	T201M	probably damaging	Het
Pcdhb9	T	C	18: 37,536,468 (GRCm39)	C821R	probably benign	Het
Plekhg3	T	C	12: 76,623,688 (GRCm39)	I976T	probably damaging	Het
Pold1	G	A	7: 44,190,753 (GRCm39)	R304C	probably damaging	Het
Prss38	T	C	11: 59,263,771 (GRCm39)	T314A	probably benign	Het
Psph	T	C	5: 129,846,450 (GRCm39)		probably null	Het
Ptprj	G	A	2: 90,270,987 (GRCm39)	P1247L	probably damaging	Het
Ralgds	A	G	2: 28,435,428 (GRCm39)	E465G	probably damaging	Het
Rfng	T	C	11: 120,674,790 (GRCm39)	T67A	probably damaging	Het
Rps6kl1	G	T	12: 85,187,161 (GRCm39)	F181L	probably benign	Het
Spata46	G	A	1: 170,139,455 (GRCm39)	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,454,914 (GRCm39)	N124K	probably damaging	Het
Sspo	C	T	6: 48,455,330 (GRCm39)	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,704,396 (GRCm39)	I231T	probably damaging	Het
Tff3	G	A	17: 31,346,483 (GRCm39)	P30S	probably benign	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,147,708 (GRCm39)	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,223,569 (GRCm39)	T14A	probably damaging	Het
Tspan17	T	A	13: 54,942,877 (GRCm39)	C116*	probably null	Het
Ttn	T	C	2: 76,710,890 (GRCm39)		probably benign	Het
Tyr	T	C	7: 87,141,855 (GRCm39)	Y158C	probably null	Het
U2af1l4	G	T	7: 30,262,773 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,282,939 (GRCm39)	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,129,902 (GRCm39)	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,917,183 (GRCm39)		probably null	Het
Zfp521	T	C	18: 13,977,111 (GRCm39)	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,465,229 (GRCm39)	F345I	probably benign	Het
Zswim2	T	A	2: 83,745,739 (GRCm39)	R566S	probably benign	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
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
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'- AGTTAGTTAGGGCCTCTGCTC -3'
(R):5'- CACAGTTTCATCCCAGAATAGC -3'

Sequencing Primer
(F):5'- TGCTCCAGGAGAAACTCATG -3'
(R):5'- CTGAAGACAGACTCAGAGAGCTC -3'

Posted On

2015-11-11