Mutagenetix > Incidental Mutation

Incidental Mutation 'R5315:Rab3a'

405801

Institutional Source

Beutler Lab

Gene Symbol

Rab3a

Ensembl Gene

ENSMUSG00000031840

Gene Name

RAB3A, member RAS oncogene family

Synonyms

MMRRC Submission

042898-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R5315 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71207328-71211323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71208569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 23 (F23L)

Ref Sequence

ENSEMBL: ENSMUSP00000105720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034301] [ENSMUST00000034307] [ENSMUST00000038626] [ENSMUST00000110090] [ENSMUST00000110092] [ENSMUST00000110093] [ENSMUST00000110095] [ENSMUST00000224874] [ENSMUST00000143118]

AlphaFold

P63011

Predicted Effect

probably damaging
Transcript: ENSMUST00000034301
AA Change: F23L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034301
Gene: ENSMUSG00000031840
AA Change: F23L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034307

SMART Domains

Protein: ENSMUSP00000034307
Gene: ENSMUSG00000031842

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
HDc	386	512	1.48e0	SMART
Pfam:PDEase_I	526	598	5.3e-21	PFAM
low complexity region	625	636	N/A	INTRINSIC

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: F23L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105717
Gene: ENSMUSG00000031840
AA Change: F23L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110092
AA Change: F23L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105719
Gene: ENSMUSG00000031840
AA Change: F23L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000110093
AA Change: F23L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105720
Gene: ENSMUSG00000031840
AA Change: F23L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110095

SMART Domains

Protein: ENSMUSP00000105722
Gene: ENSMUSG00000031842

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
HDc	386	561	5.11e-6	SMART
low complexity region	659	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213010

Predicted Effect

probably benign
Transcript: ENSMUST00000212617

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130468

Predicted Effect

probably benign
Transcript: ENSMUST00000224874

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

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 98.1%
20x: 97.1%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	T	C	11: 105,885,747 (GRCm39)	V51A	probably benign	Het
Ass1	A	T	2: 31,382,341 (GRCm39)	I171F	probably benign	Het
AU041133	T	G	10: 81,987,506 (GRCm39)	Y386*	probably null	Het
Bex6	A	G	16: 32,005,311 (GRCm39)	N40D	probably benign	Het
Cc2d2a	A	G	5: 43,877,775 (GRCm39)	Y1044C	probably damaging	Het
Cflar	C	G	1: 58,792,961 (GRCm39)	D442E	probably benign	Het
Dag1	A	G	9: 108,086,316 (GRCm39)	V275A	probably damaging	Het
Dnah17	G	A	11: 118,018,109 (GRCm39)	R129W	possibly damaging	Het
Epha4	C	T	1: 77,365,109 (GRCm39)		probably null	Het
Eri2	T	C	7: 119,385,241 (GRCm39)	D420G	probably benign	Het
Gm42669	A	T	5: 107,656,103 (GRCm39)	I1301F	probably damaging	Het
Golga2	A	G	2: 32,193,773 (GRCm39)	E463G	probably damaging	Het
Grsf1	G	A	5: 88,821,634 (GRCm39)		probably benign	Het
Igkv6-15	A	C	6: 70,383,957 (GRCm39)	V7G	possibly damaging	Het
Katnal2	A	T	18: 77,099,705 (GRCm39)	V143D	probably benign	Het
Mepce	A	C	5: 137,780,955 (GRCm39)	I617S	probably damaging	Het
Mms19	C	T	19: 41,943,201 (GRCm39)	R320Q	possibly damaging	Het
Nt5c2	T	C	19: 46,880,682 (GRCm39)	Y353C	probably damaging	Het
Or5p76	A	G	7: 108,123,097 (GRCm39)	L20S	probably damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pitpnm2	A	T	5: 124,259,996 (GRCm39)	D1111E	probably benign	Het
Plin5	C	A	17: 56,421,066 (GRCm39)	V200L	probably benign	Het
Rrp8	T	C	7: 105,383,207 (GRCm39)	K353R	probably benign	Het
S100a7l2	G	A	3: 90,997,637 (GRCm39)	T26M	possibly damaging	Het
Senp7	A	G	16: 56,000,889 (GRCm39)	D887G	probably benign	Het
Sftpb	G	T	6: 72,283,876 (GRCm39)	A158S	probably benign	Het
Sh2d2a	A	C	3: 87,754,976 (GRCm39)	T23P	probably damaging	Het
Siglecf	T	C	7: 43,004,532 (GRCm39)	L287P	probably benign	Het
Slc4a1	T	A	11: 102,249,080 (GRCm39)	I233F	possibly damaging	Het
Spef2	T	C	15: 9,596,777 (GRCm39)	Q1424R	probably damaging	Het
Tbc1d14	T	C	5: 36,664,932 (GRCm39)	D567G	probably damaging	Het
Tmem106b	T	G	6: 13,081,559 (GRCm39)	N155K	probably damaging	Het
Vmn2r2	C	A	3: 64,024,377 (GRCm39)	V735F	probably benign	Het
Zfp850	T	C	7: 27,689,743 (GRCm39)	K155R	probably benign	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
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'- GTCACAGCTCTGCCTTATGTTG -3'
(R):5'- TTGGCAGGAAGACATCTCCC -3'

Sequencing Primer
(F):5'- CAGCTCTGCCTTATGTTGGTTGG -3'
(R):5'- GGAAGACATCTCCCCTCCAG -3'

Posted On

2016-07-22