Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:Rab3c'

424200

Institutional Source

Beutler Lab

Gene Symbol

Rab3c

Ensembl Gene

ENSMUSG00000021700

Gene Name

RAB3C, member RAS oncogene family

Synonyms

3110015B08Rik, 3110037E15Rik, 2700062I01Rik

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110190721-110417530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110198497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 179 (N179S)

Ref Sequence

ENSEMBL: ENSMUSP00000132945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167824] [ENSMUST00000223922]

AlphaFold

P62823

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167824
AA Change: N179S

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132945
Gene: ENSMUSG00000021700
AA Change: N179S

Domain	Start	End	E-Value	Type
RAB	31	194	1.35e-93	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223922
AA Change: N177S

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAS oncogene family and encodes a small GTPase. Other similar small GTPases are known to be involved in vesicle trafficking, and the encoded protein was shown to play a role in recycling phagocytosed MHC class 1 complexes to the cell surface. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,849,165 (GRCm39)	V1842A	probably damaging	Het
Abi3	A	T	11: 95,732,934 (GRCm39)	F13L	probably benign	Het
Adgre4	A	G	17: 56,125,758 (GRCm39)	K538R	probably benign	Het
Bcas3	C	T	11: 85,342,581 (GRCm39)	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,886,538 (GRCm39)	T376A	probably benign	Het
Ceacam18	C	A	7: 43,286,497 (GRCm39)	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,709,224 (GRCm39)	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,989,148 (GRCm39)		probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Chrm2	A	G	6: 36,500,290 (GRCm39)	K49R	probably damaging	Het
Ciao2b	T	C	8: 105,368,282 (GRCm39)	N14S	probably damaging	Het
Daam1	T	A	12: 71,999,233 (GRCm39)	L623*	probably null	Het
Ddx31	T	A	2: 28,753,782 (GRCm39)	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,586,331 (GRCm39)	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,965,928 (GRCm39)	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,057,432 (GRCm39)	R247H	probably damaging	Het
Exoc4	A	G	6: 33,242,934 (GRCm39)	E49G	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxj3	A	G	4: 119,476,596 (GRCm39)	E258G	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Helz2	C	T	2: 180,877,321 (GRCm39)	E1106K	probably damaging	Het
Hip1	G	T	5: 135,465,252 (GRCm39)	S385R	probably benign	Het
Igsf9	C	T	1: 172,312,078 (GRCm39)	T8I	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Katnal2	A	G	18: 77,105,190 (GRCm39)	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 105,918,417 (GRCm39)	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,535,432 (GRCm39)	R570*	probably null	Het
Kif16b	T	A	2: 142,582,889 (GRCm39)	R545S	probably damaging	Het
Kif21b	T	A	1: 136,100,030 (GRCm39)	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,730,571 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mknk2	T	C	10: 80,507,597 (GRCm39)	T60A	probably benign	Het
Ncoa6	T	C	2: 155,248,907 (GRCm39)	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,704,083 (GRCm39)	T109P	probably damaging	Het
Nup214	C	A	2: 31,907,158 (GRCm39)	S995Y	unknown	Het
Or2a5	A	T	6: 42,873,454 (GRCm39)	Q23L	probably benign	Het
Pclo	T	A	5: 14,762,750 (GRCm39)	L456*	probably null	Het
Pde5a	A	G	3: 122,541,825 (GRCm39)	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,456,597 (GRCm39)	P709H	probably damaging	Het
R3hdm4	C	T	10: 79,748,292 (GRCm39)	E162K	possibly damaging	Het
Setdb2	T	A	14: 59,646,885 (GRCm39)	R559S	probably benign	Het
Sf3b1	A	G	1: 55,042,469 (GRCm39)	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,712,155 (GRCm39)	W228L	probably benign	Het
Slc8a2	T	G	7: 15,891,228 (GRCm39)	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,309,251 (GRCm39)	I194L	unknown	Het
Smarcd1	C	T	15: 99,601,128 (GRCm39)	Q45*	probably null	Het
Srcap	T	G	7: 127,139,492 (GRCm39)	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330 (GRCm39)	N9Y	probably damaging	Het
St7	T	C	6: 17,819,317 (GRCm39)	S74P	probably damaging	Het
Stxbp5l	T	A	16: 36,994,688 (GRCm39)	E739V	probably damaging	Het
Sun3	T	A	11: 8,981,496 (GRCm39)	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,047,033 (GRCm39)	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,296,994 (GRCm39)	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,526,939 (GRCm39)	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,376,717 (GRCm39)	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,227,949 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,903,332 (GRCm39)	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,378,292 (GRCm39)	K381E	probably benign	Het
Uaca	T	C	9: 60,778,430 (GRCm39)	V937A	probably benign	Het
Umod	C	T	7: 119,071,577 (GRCm39)	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,924,412 (GRCm39)		probably null	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp644	G	A	5: 106,783,541 (GRCm39)	T1002I	probably damaging	Het
Zfp738	A	G	13: 67,819,131 (GRCm39)	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,644,771 (GRCm39)	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,361,352 (GRCm39)		probably null	Het

Other mutations in Rab3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1294:Rab3c	UTSW	13	110,397,099 (GRCm39)	missense	possibly damaging	0.72
R1346:Rab3c	UTSW	13	110,397,120 (GRCm39)	missense	probably damaging	1.00
R1819:Rab3c	UTSW	13	110,220,669 (GRCm39)	missense	possibly damaging	0.52
R1903:Rab3c	UTSW	13	110,220,744 (GRCm39)	missense	probably damaging	1.00
R2059:Rab3c	UTSW	13	110,397,050 (GRCm39)	missense	probably damaging	1.00
R4018:Rab3c	UTSW	13	110,220,728 (GRCm39)	missense	probably damaging	1.00
R4707:Rab3c	UTSW	13	110,198,434 (GRCm39)	missense	probably benign	0.00
R4784:Rab3c	UTSW	13	110,198,434 (GRCm39)	missense	probably benign	0.00
R4785:Rab3c	UTSW	13	110,198,434 (GRCm39)	missense	probably benign	0.00
R5305:Rab3c	UTSW	13	110,317,611 (GRCm39)	missense	probably damaging	1.00
R8136:Rab3c	UTSW	13	110,317,554 (GRCm39)	nonsense	probably null
R8739:Rab3c	UTSW	13	110,397,135 (GRCm39)	missense	probably damaging	0.98
Z1177:Rab3c	UTSW	13	110,397,020 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTAATAGACCATTTATCAATGCTGC -3'
(R):5'- TTGTCCAGCAGTCATCTCCG -3'

Sequencing Primer
(F):5'- AGACCATTTATCAATGCTGCTTCTTG -3'
(R):5'- GTCATCTCCGGTCTAAGAAATCG -3'

Posted On

2016-08-04