Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Rab3a'

528818

Institutional Source

Beutler Lab

Gene Symbol

Rab3a

Ensembl Gene

ENSMUSG00000031840

Gene Name

RAB3A, member RAS oncogene family

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.437) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70754679-70758677 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70756448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 77 (D77G)

Ref Sequence

ENSEMBL: ENSMUSP00000105720 (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: D77G

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

SMART Domains

Protein: ENSMUSP00000034301
Gene: ENSMUSG00000031840
AA Change: D77G

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: D77G

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

SMART Domains

Protein: ENSMUSP00000105717
Gene: ENSMUSG00000031840
AA Change: D77G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110092
AA Change: D77G

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

SMART Domains

Protein: ENSMUSP00000105719
Gene: ENSMUSG00000031840
AA Change: D77G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110093
AA Change: D77G

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

SMART Domains

Protein: ENSMUSP00000105720
Gene: ENSMUSG00000031840
AA Change: D77G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130468

Predicted Effect

probably benign
Transcript: ENSMUST00000143118

SMART Domains

Protein: ENSMUSP00000123384
Gene: ENSMUSG00000031840

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212385

Predicted Effect

probably benign
Transcript: ENSMUST00000212617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213010

Meta Mutation Damage Score

0.9749

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in Rab3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1070:Rab3a	UTSW	8	70757194	missense	probably damaging	1.00
R2196:Rab3a	UTSW	8	70757226	missense	probably benign	0.00
R5315:Rab3a	UTSW	8	70755922	missense	probably damaging	1.00
R6703:Rab3a	UTSW	8	70756448	missense	probably damaging	1.00
R7422:Rab3a	UTSW	8	70756523	missense	possibly damaging	0.87
R9330:Rab3a	UTSW	8	70757235	missense	probably damaging	0.99
R9533:Rab3a	UTSW	8	70757158	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCCAGTACATGTTTGTTGAGTGAC -3'
(R):5'- GAACCCAAGGCTTTGTCCTG -3'

Sequencing Primer
(F):5'- ACTAAGTGGCCTTGCAGTGAC -3'
(R):5'- TTTGTCCTGGCCAAGCAG -3'

Posted On

2018-07-24