Mutagenetix > Incidental Mutation

Incidental Mutation 'R1914:Rasal3'

269776

Institutional Source

Beutler Lab

Gene Symbol

Rasal3

Ensembl Gene

ENSMUSG00000052142

Gene Name

RAS protein activator like 3

Synonyms

A430107D22Rik

MMRRC Submission

039932-MU

Accession Numbers

Essential gene?

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

Stock #

R1914 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

32609633-32622557 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 32615324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 505 (Q505*)

Ref Sequence

ENSEMBL: ENSMUSP00000123141 (fasta)

Gene Model

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

AlphaFold

Q8C2K5

Predicted Effect

probably null
Transcript: ENSMUST00000063824
AA Change: Q503*

SMART Domains

Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: Q503*

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: ENSMUST00000134723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135560

Predicted Effect

probably null
Transcript: ENSMUST00000135618
AA Change: Q481*

SMART Domains

Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: Q481*

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

noncoding transcript
Transcript: ENSMUST00000135968

Predicted Effect

probably null
Transcript: ENSMUST00000136375
AA Change: Q481*

SMART Domains

Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142
AA Change: Q481*

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

probably null
Transcript: ENSMUST00000137458
AA Change: Q505*

SMART Domains

Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: Q505*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141714

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143808

Meta Mutation Damage Score

0.9704

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (90/91)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,622,386 (GRCm39)	V618E	possibly damaging	Het
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Akap12	G	A	10: 4,306,685 (GRCm39)	R1165H	probably benign	Het
Asxl1	T	C	2: 153,243,826 (GRCm39)	S1459P	probably damaging	Het
Bahcc1	C	T	11: 120,176,225 (GRCm39)	R1957C	probably damaging	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Camsap3	C	T	8: 3,654,708 (GRCm39)	R782C	probably damaging	Het
Capn15	C	A	17: 26,183,837 (GRCm39)	A215S	probably benign	Het
Casz1	T	C	4: 149,017,415 (GRCm39)	F235L	probably damaging	Het
Ccdc57	A	T	11: 120,794,134 (GRCm39)		probably benign	Het
Cdh23	A	G	10: 60,159,349 (GRCm39)	V2142A	probably damaging	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep104	T	C	4: 154,074,296 (GRCm39)	L516P	possibly damaging	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Diaph3	A	C	14: 86,893,921 (GRCm39)	N29K	probably damaging	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Ephb1	C	T	9: 101,806,577 (GRCm39)	C819Y	probably damaging	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Fezf2	A	T	14: 12,343,988 (GRCm38)	V301E	probably damaging	Het
Fnbp4	T	C	2: 90,609,537 (GRCm39)		probably benign	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gas6	T	C	8: 13,527,152 (GRCm39)	T199A	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Grm4	A	T	17: 27,653,686 (GRCm39)	C755S	probably damaging	Het
Hdgfl2	A	G	17: 56,403,978 (GRCm39)	D278G	probably damaging	Het
Heatr5a	G	T	12: 51,952,250 (GRCm39)	A1130E	probably damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Ing1	T	A	8: 11,611,577 (GRCm39)	V63E	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Klf5	T	C	14: 99,539,357 (GRCm39)	S177P	probably benign	Het
Lats1	T	A	10: 7,586,221 (GRCm39)		probably benign	Het
Lilrb4a	A	G	10: 51,368,045 (GRCm39)	I53M	probably benign	Het
Lrrc2	T	A	9: 110,810,007 (GRCm39)	Y348N	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Med25	A	G	7: 44,534,046 (GRCm39)	S245P	probably benign	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Naip6	T	A	13: 100,435,936 (GRCm39)	E862D	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nyap2	T	C	1: 81,169,602 (GRCm39)	S120P	probably damaging	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Pappa2	A	T	1: 158,578,133 (GRCm39)	D1721E	probably damaging	Het
Pcid2	A	T	8: 13,144,141 (GRCm39)		probably null	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rabggta	A	T	14: 55,958,646 (GRCm39)	F62L	possibly damaging	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsph4a	A	T	10: 33,789,068 (GRCm39)	N638Y	probably damaging	Het
Scn9a	A	G	2: 66,396,594 (GRCm39)	F100L	probably damaging	Het
Siglece	A	G	7: 43,307,219 (GRCm39)	V256A	probably benign	Het
Slc23a2	A	T	2: 131,898,686 (GRCm39)	L617Q	probably damaging	Het
Snx9	T	C	17: 5,978,531 (GRCm39)	I567T	possibly damaging	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tbl1xr1	T	C	3: 22,245,074 (GRCm39)		probably benign	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Trim43c	T	A	9: 88,722,670 (GRCm39)	D105E	probably benign	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Vmn2r18	T	C	5: 151,499,286 (GRCm39)	N393D	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	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
R1669:Rasal3	UTSW	17	32,622,072 (GRCm39)	missense	possibly damaging	0.81
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'- AGACAAGTTAAGGCCAGGTC -3'
(R):5'- TGAACGCTTCCACTTCGAG -3'

Sequencing Primer
(F):5'- GGTCCCTAGTAGCTGAAATTCCAG -3'
(R):5'- GCTTCCACTTCGAGGCGTTG -3'

Posted On

2015-03-02