Mutagenetix > Incidental Mutation

Incidental Mutation 'R5683:Ralb'

443166

Institutional Source

Beutler Lab

Gene Symbol

Ralb

Ensembl Gene

ENSMUSG00000004451

Gene Name

v-ral simian leukemia viral oncogene B

Synonyms

5730472O18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5683 (G1)

Quality Score

142

Status

Not validated

Chromosome

Chromosomal Location

119398035-119432512 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 119403686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 147 (A147V)

Ref Sequence

ENSEMBL: ENSMUSP00000004565 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004565]

AlphaFold

Q9JIW9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004565
AA Change: A147V

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000004565
Gene: ENSMUSG00000004451
AA Change: A147V

Domain	Start	End	E-Value	Type
RAS	12	179	1.83e-95	SMART
low complexity region	191	198	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000142945
AA Change: A94V

SMART Domains

Protein: ENSMUSP00000119849
Gene: ENSMUSG00000004451
AA Change: A94V

Domain	Start	End	E-Value	Type
small_GTPase	2	127	1.15e-37	SMART

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTP-binding protein that belongs to the small GTPase superfamily and Ras family of proteins. GTP-binding proteins mediate the transmembrane signaling initiated by the occupancy of certain cell surface receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	C	11: 72,093,266 (GRCm39)	M22R	probably benign	Het
Acad11	A	G	9: 103,961,482 (GRCm39)	E397G	probably damaging	Het
Actrt3	A	T	3: 30,652,427 (GRCm39)	D222E	probably benign	Het
Akap11	A	T	14: 78,750,018 (GRCm39)	S790T	probably damaging	Het
Arhgap5	T	A	12: 52,566,369 (GRCm39)	D1113E	probably benign	Het
Arl2	C	A	19: 6,184,794 (GRCm39)	R153L	probably benign	Het
B3glct	T	A	5: 149,619,902 (GRCm39)	M19K	probably benign	Het
Ccdc138	C	A	10: 58,376,641 (GRCm39)	Q425K	probably damaging	Het
Ccdc178	T	A	18: 22,263,179 (GRCm39)	K143N	probably benign	Het
Cd200r4	T	A	16: 44,653,311 (GRCm39)	I73K	probably benign	Het
Chaf1b	A	G	16: 93,684,030 (GRCm39)	K94E	possibly damaging	Het
Cmtm2a	T	C	8: 105,019,676 (GRCm39)		probably null	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Fnbp4	C	A	2: 90,583,206 (GRCm39)	N277K	probably damaging	Het
Htr7	C	A	19: 35,947,271 (GRCm39)	A248S	probably damaging	Het
Itsn1	T	C	16: 91,702,268 (GRCm39)	Y37H	probably benign	Het
Kdm8	A	G	7: 125,054,345 (GRCm39)	Y16C	possibly damaging	Het
Kif1b	A	T	4: 149,306,718 (GRCm39)	Y881N	probably damaging	Het
Lhcgr	C	T	17: 89,079,447 (GRCm39)	V80I	probably benign	Het
Lrriq1	T	A	10: 103,009,236 (GRCm39)	L1082F	probably damaging	Het
Met	A	G	6: 17,571,743 (GRCm39)	Y1354C	probably damaging	Het
Nbea	A	G	3: 55,536,007 (GRCm39)	L2859P	possibly damaging	Het
Ndufaf5	T	A	2: 140,044,843 (GRCm39)	M279K	possibly damaging	Het
Nlrp4e	T	C	7: 23,052,697 (GRCm39)	I872T	probably damaging	Het
Npnt	A	T	3: 132,612,601 (GRCm39)		probably null	Het
Nsd1	G	A	13: 55,393,961 (GRCm39)	V521I	probably benign	Het
Or2n1e	G	A	17: 38,586,437 (GRCm39)	M258I	possibly damaging	Het
Pak6	T	A	2: 118,524,393 (GRCm39)	Y469N	probably damaging	Het
Parp4	C	T	14: 56,884,886 (GRCm39)	R1322*	probably null	Het
Pax6	T	C	2: 105,516,252 (GRCm39)	Y177H	probably benign	Het
Pcdhb4	A	T	18: 37,442,042 (GRCm39)	T451S	probably benign	Het
Pcdhgb5	A	T	18: 37,864,907 (GRCm39)	D234V	probably damaging	Het
Pramel11	A	G	4: 143,622,423 (GRCm39)	S311P	probably damaging	Het
Rgs11	A	G	17: 26,424,155 (GRCm39)	K196E	probably benign	Het
Rnft1	A	T	11: 86,382,616 (GRCm39)	T280S	probably benign	Het
Slco4c1	G	T	1: 96,795,559 (GRCm39)	H166Q	probably damaging	Het
Sycp3	T	C	10: 88,308,797 (GRCm39)	S248P	probably damaging	Het
Tab2	A	G	10: 7,794,876 (GRCm39)		probably null	Het
Tgm6	T	C	2: 129,980,875 (GRCm39)	M224T	probably damaging	Het
Topbp1	A	T	9: 103,190,003 (GRCm39)	E193V	possibly damaging	Het
Trim36	T	C	18: 46,302,359 (GRCm39)	Y551C	probably damaging	Het
Ttc17	T	C	2: 94,192,866 (GRCm39)	Y628C	probably damaging	Het
Vmn1r180	A	C	7: 23,652,635 (GRCm39)	D266A	possibly damaging	Het
Vmn2r104	T	A	17: 20,260,981 (GRCm39)	K481*	probably null	Het
Zc3hav1	A	G	6: 38,284,172 (GRCm39)	V981A	probably damaging	Het

Other mutations in Ralb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00227:Ralb	APN	1	119,403,770 (GRCm39)	missense	probably benign	0.26
IGL00927:Ralb	APN	1	119,399,506 (GRCm39)	missense	probably benign	0.00
IGL01607:Ralb	APN	1	119,411,279 (GRCm39)	missense	probably damaging	0.96
IGL01805:Ralb	APN	1	119,403,725 (GRCm39)	missense	probably benign	0.03
IGL02330:Ralb	APN	1	119,399,450 (GRCm39)	missense	probably damaging	0.98
R0393:Ralb	UTSW	1	119,405,856 (GRCm39)	splice site	probably null
R1616:Ralb	UTSW	1	119,405,744 (GRCm39)	missense	probably damaging	1.00
R1854:Ralb	UTSW	1	119,403,797 (GRCm39)	missense	possibly damaging	0.94
R3829:Ralb	UTSW	1	119,399,447 (GRCm39)	missense	probably benign	0.04
R4097:Ralb	UTSW	1	119,411,228 (GRCm39)	missense	probably benign	0.03
R4352:Ralb	UTSW	1	119,411,282 (GRCm39)	missense	probably benign	0.09
R4854:Ralb	UTSW	1	119,403,645 (GRCm39)	missense	probably benign	0.12
R5567:Ralb	UTSW	1	119,411,265 (GRCm39)	missense	probably damaging	1.00
R6153:Ralb	UTSW	1	119,405,870 (GRCm39)	splice site	probably null
R6358:Ralb	UTSW	1	119,403,735 (GRCm39)	missense	probably damaging	1.00
R6408:Ralb	UTSW	1	119,405,839 (GRCm39)	nonsense	probably null
R6816:Ralb	UTSW	1	119,405,712 (GRCm39)	nonsense	probably null
R7371:Ralb	UTSW	1	119,400,129 (GRCm39)	missense
R8890:Ralb	UTSW	1	119,411,246 (GRCm39)	missense	probably damaging	1.00
R9286:Ralb	UTSW	1	119,399,544 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CAGTGGTAGCAGAGGCAGC -3'
(R):5'- GCTGACTTCATATGCCAGCTTT -3'

Sequencing Primer
(F):5'- TGCAACTTCAATTCCAGGGG -3'
(R):5'- GGCATACATACCATAGTTCACGTGG -3'

Posted On

2016-11-09