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

044820-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71207328-71211323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71209095 bp (GRCm39)

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: ENSMUST00000213010

Predicted Effect

probably benign
Transcript: ENSMUST00000212617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212385

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: 21,497,558 (GRCm39)	Y66*	probably null	Het
Ak3	A	G	19: 29,003,627 (GRCm39)	V183A	probably damaging	Het
Ano10	G	T	9: 122,088,630 (GRCm39)	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,648,058 (GRCm39)		probably null	Het
Brpf3	A	C	17: 29,029,633 (GRCm39)	N531T	probably benign	Het
Casp2	T	C	6: 42,244,985 (GRCm39)	V128A	probably benign	Het
Cdcp2	T	C	4: 106,964,283 (GRCm39)	C378R	probably benign	Het
Cfap54	T	A	10: 92,704,596 (GRCm39)	D2828V	unknown	Het
Col6a3	T	C	1: 90,707,161 (GRCm39)	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,100,608 (GRCm39)	T93A	probably benign	Het
Ddx54	T	A	5: 120,764,568 (GRCm39)	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,376,571 (GRCm39)	S56P	probably damaging	Het
Dna2	T	A	10: 62,809,073 (GRCm39)	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,882,869 (GRCm39)	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,146,256 (GRCm39)	F296L	probably benign	Het
Fat1	A	G	8: 45,406,083 (GRCm39)	T945A	probably benign	Het
Herpud1	T	C	8: 95,119,154 (GRCm39)		probably null	Het
Iqub	T	A	6: 24,449,744 (GRCm39)	N707I	probably damaging	Het
Kif26b	C	G	1: 178,744,852 (GRCm39)	S1649R	possibly damaging	Het
Lamp5	C	G	2: 135,901,483 (GRCm39)	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,285,031 (GRCm39)	S290P	probably benign	Het
Map4k1	T	G	7: 28,701,821 (GRCm39)	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,773,525 (GRCm39)	C134S	possibly damaging	Het
Myo15a	A	G	11: 60,383,818 (GRCm39)	I1622V	probably benign	Het
Nbea	A	G	3: 55,912,923 (GRCm39)	Y955H	probably benign	Het
Ndor1	A	G	2: 25,139,902 (GRCm39)	F142S	possibly damaging	Het
Nynrin	A	G	14: 56,101,935 (GRCm39)	T535A	possibly damaging	Het
Or4k15	A	G	14: 50,364,688 (GRCm39)	Y218C	probably damaging	Het
Or4k42	T	A	2: 111,320,454 (GRCm39)		probably null	Het
Or5ac23	C	T	16: 59,148,961 (GRCm39)	V304I	probably benign	Het
Or5d46	G	A	2: 88,170,586 (GRCm39)	V226I	probably benign	Het
Or8b51	A	T	9: 38,569,073 (GRCm39)	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,577,828 (GRCm39)	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,474,959 (GRCm39)	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,355,671 (GRCm39)	E696K	probably damaging	Het
Pld4	T	C	12: 112,731,485 (GRCm39)	S213P	probably damaging	Het
Prkg1	T	A	19: 30,970,484 (GRCm39)	H209L	probably benign	Het
Psg16	T	C	7: 16,824,321 (GRCm39)	L35P	probably damaging	Het
Pxn	C	T	5: 115,689,955 (GRCm39)	L160F	probably benign	Het
Resf1	T	A	6: 149,229,376 (GRCm39)	N807K	probably damaging	Het
Rgma	A	T	7: 73,067,068 (GRCm39)	T108S	probably damaging	Het
Rxrg	A	G	1: 167,441,374 (GRCm39)	S51G	probably benign	Het
S1pr3	A	T	13: 51,573,475 (GRCm39)	I219F	probably damaging	Het
Sec23b	A	T	2: 144,401,109 (GRCm39)		probably null	Het
Sfrp5	G	T	19: 42,190,266 (GRCm39)	T62K	probably benign	Het
Slco1a6	T	A	6: 142,048,826 (GRCm39)	Y318F	probably damaging	Het
Slit1	A	C	19: 41,603,309 (GRCm39)	S931A	possibly damaging	Het
Sorl1	A	T	9: 41,982,497 (GRCm39)	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,575,213 (GRCm39)	S209P	probably benign	Het
Supt6	C	A	11: 78,122,626 (GRCm39)	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,636,347 (GRCm39)	M234R	probably benign	Het
Tmem72	C	G	6: 116,675,310 (GRCm39)	V61L	probably benign	Het
Trpm5	C	A	7: 142,623,055 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,550,456 (GRCm39)	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210 (GRCm39)		probably benign	Het
Ubr3	A	T	2: 69,786,393 (GRCm39)	R836W	probably benign	Het
Umodl1	A	G	17: 31,205,273 (GRCm39)		probably null	Het
Ythdf1	A	G	2: 180,560,926 (GRCm39)		probably null	Het
Zfp780b	T	C	7: 27,671,066 (GRCm39)	T81A	possibly damaging	Het
Zfp811	T	C	17: 33,016,816 (GRCm39)	E407G	probably damaging	Het

Other mutations in Rab3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1070:Rab3a	UTSW	8	71,209,840 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCAGTACATGTTTGTTGAGTGAC -3'
(R):5'- GAACCCAAGGCTTTGTCCTG -3'

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

Posted On

2018-07-24