Mutagenetix > Incidental Mutation

Incidental Mutation 'R1070:Rab3a'

86168

Institutional Source

Beutler Lab

Gene Symbol

Rab3a

Ensembl Gene

ENSMUSG00000031840

Gene Name

RAB3A, member RAS oncogene family

Synonyms

MMRRC Submission

039156-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.551) question?

Stock #

R1070 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71207328-71211323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71209840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 40 (N40S)

Ref Sequence

ENSEMBL: ENSMUSP00000123384 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034301] [ENSMUST00000038626] [ENSMUST00000110090] [ENSMUST00000110092] [ENSMUST00000110093] [ENSMUST00000143118]

AlphaFold

P63011

Predicted Effect

probably damaging
Transcript: ENSMUST00000034301
AA Change: N135S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000034301
Gene: ENSMUSG00000031840
AA Change: N135S

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000038626

SMART Domains

Protein: ENSMUSP00000037929
Gene: ENSMUSG00000035559

Domain	Start	End	E-Value	Type
Pfam:Mpv17_PMP22	122	187	6.7e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110090
AA Change: N135S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105717
Gene: ENSMUSG00000031840
AA Change: N135S

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110092
AA Change: N135S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105719
Gene: ENSMUSG00000031840
AA Change: N135S

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110093
AA Change: N135S

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105720
Gene: ENSMUSG00000031840
AA Change: N135S

Domain	Start	End	E-Value	Type
RAB	23	186	1.27e-98	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130468

Predicted Effect

probably damaging
Transcript: ENSMUST00000143118
AA Change: N40S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123384
Gene: ENSMUSG00000031840
AA Change: N40S

Domain	Start	End	E-Value	Type
Pfam:Miro	1	43	2.5e-6	PFAM
Pfam:Ras	1	62	3.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213010

Meta Mutation Damage Score

0.9407

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.7%

Validation Efficiency

95% (41/43)

MGI Phenotype

PHENOTYPE: Homozygous null mutants show impaired synaptic transmission, insulin secretion and glucose intolerance. This mutation and another chemically induced allele affect circadian period and sleep patterns. Heterozygotes show milder circadian rhythm anomalies. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,520,263 (GRCm39)	D1367G	probably damaging	Het
Actr3b	A	G	5: 26,053,491 (GRCm39)		probably benign	Het
Agtr1b	A	T	3: 20,369,912 (GRCm39)	N231K	probably benign	Het
Bach1	T	C	16: 87,517,009 (GRCm39)	S517P	probably benign	Het
Blzf1	A	G	1: 164,131,499 (GRCm39)		probably benign	Het
Bptf	G	T	11: 106,945,881 (GRCm39)	Q2453K	possibly damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Heatr4	T	C	12: 84,024,841 (GRCm39)	T327A	possibly damaging	Het
Hes1	T	C	16: 29,886,101 (GRCm39)	I235T	probably damaging	Het
Hmcn1	T	A	1: 150,565,341 (GRCm39)	D2262V	probably damaging	Het
Ifi208	C	T	1: 173,510,610 (GRCm39)	A255V	probably damaging	Het
Inhbe	T	C	10: 127,187,382 (GRCm39)	I11M	probably benign	Het
Ipo9	T	C	1: 135,334,281 (GRCm39)	E315G	possibly damaging	Het
Itih1	G	T	14: 30,664,413 (GRCm39)		probably benign	Het
Kcnk2	A	G	1: 188,988,960 (GRCm39)		probably benign	Het
Kdm4c	T	A	4: 74,291,865 (GRCm39)	Y827*	probably null	Het
Kif5a	T	C	10: 127,081,275 (GRCm39)	T220A	probably benign	Het
Krt78	A	G	15: 101,854,728 (GRCm39)	Y1028H	possibly damaging	Het
Ldc1	T	C	4: 130,112,949 (GRCm39)	E149G	probably benign	Het
Mylk4	T	C	13: 32,908,801 (GRCm39)	D333G	probably benign	Het
Net1	A	T	13: 3,962,930 (GRCm39)	S45T	probably benign	Het
Npat	T	A	9: 53,483,892 (GRCm39)	F1403I	probably damaging	Het
Or5h25	A	G	16: 58,930,182 (GRCm39)	S264P	probably benign	Het
Or5p57	T	C	7: 107,665,858 (GRCm39)	D49G	probably benign	Het
Or7a35	C	T	10: 78,853,684 (GRCm39)	P176L	probably damaging	Het
Pcif1	T	C	2: 164,731,058 (GRCm39)	Y404H	probably benign	Het
Pdzd2	A	G	15: 12,390,052 (GRCm39)		probably null	Het
Raf1	T	C	6: 115,614,660 (GRCm39)	N74D	probably benign	Het
Rap1gap2	A	G	11: 74,327,853 (GRCm39)	V139A	possibly damaging	Het
Rdh12	T	C	12: 79,260,522 (GRCm39)	L206P	probably damaging	Het
Rimoc1	C	A	15: 4,015,848 (GRCm39)	V239F	probably benign	Het
Sdhb	T	C	4: 140,698,547 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Strip1	T	C	3: 107,534,724 (GRCm39)	E102G	possibly damaging	Het
Sult2a8	T	A	7: 14,147,698 (GRCm39)	I198F	probably damaging	Het
Tars3	T	C	7: 65,305,444 (GRCm39)	S223P	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vcam1	C	T	3: 115,904,552 (GRCm39)	V732M	possibly damaging	Het
Vmn2r79	T	C	7: 86,652,681 (GRCm39)	Y458H	probably damaging	Het

Other mutations in Rab3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2196:Rab3a	UTSW	8	71,209,872 (GRCm39)	missense	probably benign	0.00
R5315:Rab3a	UTSW	8	71,208,569 (GRCm39)	missense	probably damaging	1.00
R6702:Rab3a	UTSW	8	71,209,095 (GRCm39)	missense	probably damaging	1.00
R6703:Rab3a	UTSW	8	71,209,095 (GRCm39)	missense	probably damaging	1.00
R7422:Rab3a	UTSW	8	71,209,170 (GRCm39)	missense	possibly damaging	0.87
R9330:Rab3a	UTSW	8	71,209,881 (GRCm39)	missense	probably damaging	0.99
R9533:Rab3a	UTSW	8	71,209,804 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTATGAGAACCTGGATTCCAGCCAC -3'
(R):5'- AGCTGACAGCCAACATGGCAAG -3'

Sequencing Primer
(F):5'- attccagccacagcacc -3'
(R):5'- CATGGTAAAGCCTCCTGGATAAG -3'

Posted On

2013-11-18