Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Rasal3'

187498

Institutional Source

Beutler Lab

Gene Symbol

Rasal3

Ensembl Gene

ENSMUSG00000052142

Gene Name

RAS protein activator like 3

Synonyms

A430107D22Rik

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32609633-32622557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32622072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 96 (N96D)

Ref Sequence

ENSEMBL: ENSMUSP00000123141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063824] [ENSMUST00000135618] [ENSMUST00000136375] [ENSMUST00000137458]

AlphaFold

Q8C2K5

Predicted Effect

probably benign
Transcript: ENSMUST00000063824
AA Change: N118D

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: N118D

Domain	Start	End	E-Value	Type
low complexity region	57	72	N/A	INTRINSIC
low complexity region	120	137	N/A	INTRINSIC
PH	165	323	3.94e0	SMART
Blast:RasGAP	354	381	9e-8	BLAST
low complexity region	385	402	N/A	INTRINSIC
RasGAP	433	755	2.03e-81	SMART
low complexity region	826	839	N/A	INTRINSIC
coiled coil region	932	1013	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135560

Predicted Effect

probably benign
Transcript: ENSMUST00000135618
AA Change: N96D

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: N96D

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	98	115	N/A	INTRINSIC
PH	143	301	3.94e0	SMART
Blast:RasGAP	332	359	9e-8	BLAST
low complexity region	363	380	N/A	INTRINSIC
RasGAP	411	733	2.03e-81	SMART
low complexity region	804	817	N/A	INTRINSIC
coiled coil region	910	991	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136375
AA Change: N96D

PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142
AA Change: N96D

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	98	115	N/A	INTRINSIC
PH	143	301	3.94e0	SMART
Blast:RasGAP	332	359	7e-8	BLAST
low complexity region	363	380	N/A	INTRINSIC
Pfam:RasGAP	483	579	6.4e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000137458
AA Change: N96D

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: N96D

Domain	Start	End	E-Value	Type
low complexity region	35	50	N/A	INTRINSIC
low complexity region	119	140	N/A	INTRINSIC
PH	167	325	3.94e0	SMART
Blast:RasGAP	356	383	9e-8	BLAST
low complexity region	387	404	N/A	INTRINSIC
RasGAP	435	757	2.03e-81	SMART
low complexity region	828	841	N/A	INTRINSIC
coiled coil region	934	1015	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142203

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced NT T cells in the liver, increased granulocytes in the bone marrow and decreased susceptibility to alpha-GalCer-induced liver injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	probably benign	Het

Other mutations in Rasal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Rasal3	APN	17	32,616,379 (GRCm39)	missense	possibly damaging	0.89
IGL02291:Rasal3	APN	17	32,612,711 (GRCm39)	unclassified	probably benign
IGL02346:Rasal3	APN	17	32,618,323 (GRCm39)	missense	probably damaging	1.00
IGL02422:Rasal3	APN	17	32,617,947 (GRCm39)	missense	probably benign	0.11
Beaten	UTSW	17	32,610,318 (GRCm39)	missense	probably benign	0.05
bent	UTSW	17	32,615,755 (GRCm39)	missense	probably damaging	1.00
bowed	UTSW	17	32,615,764 (GRCm39)	missense	probably damaging	1.00
kinked	UTSW	17	32,615,324 (GRCm39)	nonsense	probably null
whipped	UTSW	17	32,612,502 (GRCm39)	frame shift	probably null
R0057:Rasal3	UTSW	17	32,610,357 (GRCm39)	missense	probably benign	0.00
R0133:Rasal3	UTSW	17	32,622,357 (GRCm39)	start codon destroyed	probably null	0.89
R0180:Rasal3	UTSW	17	32,618,379 (GRCm39)	missense	probably benign
R0403:Rasal3	UTSW	17	32,611,764 (GRCm39)	splice site	probably null
R0452:Rasal3	UTSW	17	32,614,791 (GRCm39)	splice site	probably benign
R0600:Rasal3	UTSW	17	32,612,500 (GRCm39)	missense	probably damaging	0.99
R0760:Rasal3	UTSW	17	32,611,146 (GRCm39)	missense	probably benign	0.00
R1438:Rasal3	UTSW	17	32,612,509 (GRCm39)	splice site	probably null
R1914:Rasal3	UTSW	17	32,615,324 (GRCm39)	nonsense	probably null
R1928:Rasal3	UTSW	17	32,616,327 (GRCm39)	missense	probably damaging	1.00
R2002:Rasal3	UTSW	17	32,612,585 (GRCm39)	missense	probably damaging	1.00
R3053:Rasal3	UTSW	17	32,622,413 (GRCm39)	missense	probably benign	0.03
R3770:Rasal3	UTSW	17	32,611,125 (GRCm39)	missense	probably damaging	0.99
R3870:Rasal3	UTSW	17	32,612,522 (GRCm39)	missense	possibly damaging	0.94
R4491:Rasal3	UTSW	17	32,610,359 (GRCm39)	missense	probably damaging	0.99
R4783:Rasal3	UTSW	17	32,615,755 (GRCm39)	missense	probably damaging	1.00
R4788:Rasal3	UTSW	17	32,618,312 (GRCm39)	missense	probably benign	0.00
R4903:Rasal3	UTSW	17	32,616,357 (GRCm39)	missense	probably damaging	1.00
R5185:Rasal3	UTSW	17	32,615,764 (GRCm39)	missense	probably damaging	1.00
R5372:Rasal3	UTSW	17	32,610,318 (GRCm39)	missense	probably benign	0.05
R5433:Rasal3	UTSW	17	32,612,575 (GRCm39)	missense	probably benign	0.00
R5472:Rasal3	UTSW	17	32,615,643 (GRCm39)	missense	probably damaging	1.00
R5920:Rasal3	UTSW	17	32,614,143 (GRCm39)	missense	probably damaging	1.00
R6436:Rasal3	UTSW	17	32,616,478 (GRCm39)	missense	probably damaging	1.00
R6837:Rasal3	UTSW	17	32,622,044 (GRCm39)	missense	probably benign	0.17
R7047:Rasal3	UTSW	17	32,615,458 (GRCm39)	missense	probably damaging	1.00
R7109:Rasal3	UTSW	17	32,611,683 (GRCm39)	missense	probably damaging	1.00
R7179:Rasal3	UTSW	17	32,611,391 (GRCm39)	missense	probably damaging	0.99
R7571:Rasal3	UTSW	17	32,614,835 (GRCm39)	missense	possibly damaging	0.76
R7768:Rasal3	UTSW	17	32,615,767 (GRCm39)	missense	probably damaging	0.96
R7874:Rasal3	UTSW	17	32,615,681 (GRCm39)	missense	possibly damaging	0.75
R8155:Rasal3	UTSW	17	32,616,381 (GRCm39)	missense	possibly damaging	0.93
R8265:Rasal3	UTSW	17	32,614,794 (GRCm39)	critical splice donor site	probably null
R8544:Rasal3	UTSW	17	32,611,093 (GRCm39)	missense	probably benign
R8677:Rasal3	UTSW	17	32,615,828 (GRCm39)	missense	probably benign	0.03
R8695:Rasal3	UTSW	17	32,611,736 (GRCm39)	missense	possibly damaging	0.93
R9037:Rasal3	UTSW	17	32,614,094 (GRCm39)	missense	probably benign	0.01
R9307:Rasal3	UTSW	17	32,612,502 (GRCm39)	frame shift	probably null
R9417:Rasal3	UTSW	17	32,615,441 (GRCm39)	missense	probably benign	0.13
R9486:Rasal3	UTSW	17	32,617,910 (GRCm39)	missense	probably benign	0.07
R9712:Rasal3	UTSW	17	32,615,536 (GRCm39)	missense	probably damaging	0.99
RF004:Rasal3	UTSW	17	32,610,081 (GRCm39)	missense	probably damaging	1.00
X0027:Rasal3	UTSW	17	32,611,500 (GRCm39)	missense	probably benign	0.00
X0027:Rasal3	UTSW	17	32,610,193 (GRCm39)	missense	probably damaging	1.00
X0065:Rasal3	UTSW	17	32,622,260 (GRCm39)	missense	probably damaging	1.00
Z1177:Rasal3	UTSW	17	32,618,284 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCCCCACAACTTCCTGTGTCTAGAG -3'
(R):5'- CCGTTGCAGAGTGAAGAAGATTCCC -3'

Sequencing Primer
(F):5'- CTAGAGGGCTGATGCTAGATTGAC -3'
(R):5'- GCTGACATCCTACCGCTG -3'

Posted On

2014-05-09