Mutagenetix > Incidental Mutation

Incidental Mutation 'R4783:Rasal3'

366774

Institutional Source

Beutler Lab

Gene Symbol

Rasal3

Ensembl Gene

ENSMUSG00000052142

Gene Name

RAS protein activator like 3

Synonyms

A430107D22Rik

MMRRC Submission

042416-MU

Accession Numbers

Essential gene?

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

Stock #

R4783 (G1)

Quality Score

166

Status

Validated

Chromosome

Chromosomal Location

32609633-32622557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32615755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 361 (D361V)

Ref Sequence

ENSEMBL: ENSMUSP00000123141 (fasta)

Gene Model

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

AlphaFold

Q8C2K5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063824
AA Change: D359V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: D359V

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 damaging
Transcript: ENSMUST00000135618
AA Change: D337V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: D337V

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 damaging
Transcript: ENSMUST00000136375
AA Change: D337V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142
AA Change: D337V

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 damaging
Transcript: ENSMUST00000137458
AA Change: D361V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: D361V

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: ENSMUST00000143808

Meta Mutation Damage Score

0.8156

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (99/99)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082J24Rik	G	A	5: 30,310,198 (GRCm39)	R54*	probably null	Het
Acsl6	A	T	11: 54,227,819 (GRCm39)	M350L	probably damaging	Het
Adgrv1	T	C	13: 81,243,564 (GRCm39)	T6279A	probably damaging	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Ascc2	G	A	11: 4,596,653 (GRCm39)	R58H	probably benign	Het
Brinp3	A	G	1: 146,603,378 (GRCm39)		probably benign	Het
Carmil3	T	C	14: 55,738,778 (GRCm39)		probably null	Het
Ccdc47	T	A	11: 106,094,430 (GRCm39)	H7L	probably benign	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Cdr2	A	T	7: 120,557,644 (GRCm39)	F294I	probably benign	Het
Chd8	C	A	14: 52,442,825 (GRCm39)	C575F	probably damaging	Het
Ctsll3	G	A	13: 60,948,209 (GRCm39)	T156I	probably damaging	Het
Dgcr8	G	A	16: 18,076,174 (GRCm39)	R4*	probably null	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dok2	C	T	14: 71,015,314 (GRCm39)	P347L	probably benign	Het
Elf1	T	A	14: 79,818,183 (GRCm39)	N567K	probably benign	Het
Emsy	T	C	7: 98,295,686 (GRCm39)	N72S	possibly damaging	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fbn1	A	T	2: 125,166,839 (GRCm39)	C2026S	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Galt	T	C	4: 41,758,189 (GRCm39)	V318A	probably damaging	Het
Git1	T	G	11: 77,390,663 (GRCm39)	L133R	probably damaging	Het
Gm11168	G	A	9: 3,006,915 (GRCm39)	M213I	probably benign	Het
Gm7233	A	G	14: 43,037,423 (GRCm39)	E25G	probably benign	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Hlcs	C	T	16: 94,069,398 (GRCm39)	V164I	possibly damaging	Het
Hmgcr	G	A	13: 96,802,701 (GRCm39)	T66M	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lrrc7	A	G	3: 157,832,850 (GRCm39)		probably null	Het
Mapk11	T	C	15: 89,033,691 (GRCm39)	Y9C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Myh13	A	T	11: 67,232,096 (GRCm39)	I459F	probably damaging	Het
Nalf1	T	C	8: 9,258,026 (GRCm39)	Y374C	probably damaging	Het
Nedd4l	C	A	18: 65,305,998 (GRCm39)	D424E	probably damaging	Het
Nid1	C	T	13: 13,674,326 (GRCm39)	R902W	probably damaging	Het
Nphp4	G	A	4: 152,639,003 (GRCm39)	R878K	probably benign	Het
Numa1	A	G	7: 101,662,773 (GRCm39)	T1997A	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Nxf1	G	A	19: 8,744,162 (GRCm39)	A339T	probably benign	Het
Oas1b	C	A	5: 120,952,578 (GRCm39)	Q90K	probably benign	Het
Optn	T	C	2: 5,059,438 (GRCm39)	M27V	probably benign	Het
Or1r1	A	G	11: 73,874,834 (GRCm39)	F200S	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5ac17	G	T	16: 59,036,222 (GRCm39)	F251L	probably damaging	Het
Or5d45	A	G	2: 88,153,500 (GRCm39)	I183T	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Or5h18	G	T	16: 58,848,260 (GRCm39)	D3E	probably benign	Het
Oxgr1	T	C	14: 120,259,776 (GRCm39)	I144V	probably benign	Het
Pax5	T	A	4: 44,570,086 (GRCm39)	T127S	probably damaging	Het
Pcsk2	T	C	2: 143,529,599 (GRCm39)		probably null	Het
Pdxk	A	G	10: 78,300,626 (GRCm39)	V19A	possibly damaging	Het
Pik3c2a	A	T	7: 116,017,060 (GRCm39)	S232R	probably damaging	Het
Ppip5k1	T	C	2: 121,171,329 (GRCm39)	D620G	possibly damaging	Het
Ppp4r4	T	A	12: 103,557,117 (GRCm39)		probably null	Het
Psmd1	A	G	1: 86,006,434 (GRCm39)	N267D	probably damaging	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,730,102 (GRCm39)	D182G	probably damaging	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Rilp	C	T	11: 75,401,467 (GRCm39)	A110V	possibly damaging	Het
Rprd2	A	G	3: 95,681,645 (GRCm39)	V332A	probably benign	Het
Sbpl	T	A	17: 24,172,304 (GRCm39)	D205V	unknown	Het
Scn9a	T	C	2: 66,370,967 (GRCm39)	I538V	probably benign	Het
Serpina1d	T	C	12: 103,734,083 (GRCm39)	S74G	possibly damaging	Het
Serpina3n	T	C	12: 104,375,369 (GRCm39)	I147T	possibly damaging	Het
Serpinb8	A	G	1: 107,532,472 (GRCm39)	N188S	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slc25a47	T	A	12: 108,821,260 (GRCm39)	L123Q	probably damaging	Het
Slc30a2	A	T	4: 134,071,317 (GRCm39)		probably null	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Snx13	T	A	12: 35,148,285 (GRCm39)	D271E	probably damaging	Het
Tbc1d9b	A	G	11: 50,062,125 (GRCm39)	N1211S	probably benign	Het
Tdrd3	T	A	14: 87,709,537 (GRCm39)	I67N	probably damaging	Het
Thbs1	T	C	2: 117,945,273 (GRCm39)	V282A	probably benign	Het
Tmc8	A	G	11: 117,682,431 (GRCm39)		probably null	Het
Trim11	T	A	11: 58,879,750 (GRCm39)	F284Y	probably null	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr4	T	C	4: 139,149,044 (GRCm39)	S448P	possibly damaging	Het
Ugt2b34	T	C	5: 87,039,332 (GRCm39)	E443G	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Vmn1r227	A	G	17: 20,955,396 (GRCm39)		noncoding transcript	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Vmn2r12	A	T	5: 109,234,379 (GRCm39)	V611E	probably damaging	Het
Vmn2r97	A	T	17: 19,149,550 (GRCm39)	M313L	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het
Zfp667	T	A	7: 6,308,684 (GRCm39)	F451I	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
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
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'- ACTCGGCCAGCTCCTTATAG -3'
(R):5'- GCATCTTGGGTCTTAGAGCG -3'

Sequencing Primer
(F):5'- TCCTTATAGCGCTCCGACGG -3'
(R):5'- GTCTTAGAGCGTGGACATCTCC -3'

Posted On

2015-12-29