Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02346:Rasal3'

289270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasal3

Ensembl Gene

ENSMUSG00000052142

Gene Name

RAS protein activator like 3

Synonyms

A430107D22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02346

Quality Score

Status

Chromosome

Chromosomal Location

32390659-32403583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32399349 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 161 (W161R)

Ref Sequence

ENSEMBL: ENSMUSP00000123141 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000063824
AA Change: W159R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142
AA Change: W159R

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 damaging
Transcript: ENSMUST00000135618
AA Change: W137R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142
AA Change: W137R

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: W137R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142
AA Change: W137R

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: W161R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142
AA Change: W161R

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

Coding Region Coverage

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,238,699	I1948F	probably damaging	Het
Adgre1	T	C	17: 57,443,919	V531A	probably benign	Het
Ano3	A	T	2: 110,770,926		probably benign	Het
Api5	A	T	2: 94,427,530	F125I	possibly damaging	Het
Arhgap21	A	G	2: 20,879,951		probably benign	Het
Atp13a5	T	A	16: 29,327,736	K247*	probably null	Het
Ccdc58	T	C	16: 36,091,835	V87A	probably damaging	Het
Col9a1	C	T	1: 24,223,609	A585V	probably damaging	Het
Eef1akmt3	A	G	10: 127,032,936	V223A	probably benign	Het
Eml1	T	C	12: 108,537,441	S766P	possibly damaging	Het
Fam13b	G	T	18: 34,462,105	A402E	probably benign	Het
Gad2	A	G	2: 22,629,939		probably benign	Het
Gbf1	A	G	19: 46,285,930	E1859G	probably damaging	Het
Gli3	T	G	13: 15,723,693	V786G	probably damaging	Het
Gm5592	A	G	7: 41,289,465	S724G	probably damaging	Het
Hgs	A	G	11: 120,482,551	Y634C	probably damaging	Het
Hoxa3	T	A	6: 52,170,599		probably benign	Het
Id4	C	A	13: 48,261,713	Y72*	probably null	Het
Il5ra	T	A	6: 106,742,658	E71D	probably benign	Het
Kcnh4	G	A	11: 100,756,942	T168M	possibly damaging	Het
Kdm3b	A	T	18: 34,834,238	I1699L	probably damaging	Het
Madd	A	G	2: 91,162,491	Y1048H	probably damaging	Het
Nr2f1	C	A	13: 78,195,408	V246L	probably damaging	Het
Oas2	A	T	5: 120,736,088	I560N	probably benign	Het
Olfr24	T	C	9: 18,754,769	I289V	probably damaging	Het
Olfr27	T	C	9: 39,144,643	L181P	probably damaging	Het
Olfr346	A	T	2: 36,688,004	M1L	probably benign	Het
Pclo	A	G	5: 14,677,538		probably benign	Het
Pdss2	T	C	10: 43,345,643	F184L	possibly damaging	Het
Prpf39	C	T	12: 65,057,736	T525I	probably benign	Het
Ralgps1	A	T	2: 33,157,770		probably null	Het
Sema5b	T	A	16: 35,649,755	V329D	probably damaging	Het
Serpinb9g	A	T	13: 33,486,531	M1L	probably benign	Het
Sptb	C	T	12: 76,621,014	D770N	probably damaging	Het
Tdp2	T	C	13: 24,841,352	V368A	possibly damaging	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Vmn2r9	T	A	5: 108,842,984	N837I	probably benign	Het
Vmn2r-ps130	T	C	17: 23,061,527	V54A	possibly damaging	Het
Wdr7	A	T	18: 63,865,336	E1118V	probably benign	Het
Wwox	A	G	8: 114,712,118	H308R	probably benign	Het
Zbtb41	C	A	1: 139,447,100	P766Q	probably damaging	Het

Other mutations in Rasal3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01126:Rasal3	APN	17	32397405	missense	possibly damaging	0.89
IGL02291:Rasal3	APN	17	32393737	unclassified	probably benign
IGL02422:Rasal3	APN	17	32398973	missense	probably benign	0.11
Beaten	UTSW	17	32391344	missense	probably benign	0.05
bent	UTSW	17	32396781	missense	probably damaging	1.00
bowed	UTSW	17	32396790	missense	probably damaging	1.00
kinked	UTSW	17	32396350	nonsense	probably null
R0057:Rasal3	UTSW	17	32391383	missense	probably benign	0.00
R0133:Rasal3	UTSW	17	32403383	start codon destroyed	probably null	0.89
R0180:Rasal3	UTSW	17	32399405	missense	probably benign
R0403:Rasal3	UTSW	17	32392790	splice site	probably null
R0452:Rasal3	UTSW	17	32395817	splice site	probably benign
R0600:Rasal3	UTSW	17	32393526	missense	probably damaging	0.99
R0760:Rasal3	UTSW	17	32392172	missense	probably benign	0.00
R1438:Rasal3	UTSW	17	32393535	splice site	probably null
R1669:Rasal3	UTSW	17	32403098	missense	possibly damaging	0.81
R1914:Rasal3	UTSW	17	32396350	nonsense	probably null
R1928:Rasal3	UTSW	17	32397353	missense	probably damaging	1.00
R2002:Rasal3	UTSW	17	32393611	missense	probably damaging	1.00
R3053:Rasal3	UTSW	17	32403439	missense	probably benign	0.03
R3770:Rasal3	UTSW	17	32392151	missense	probably damaging	0.99
R3870:Rasal3	UTSW	17	32393548	missense	possibly damaging	0.94
R4491:Rasal3	UTSW	17	32391385	missense	probably damaging	0.99
R4783:Rasal3	UTSW	17	32396781	missense	probably damaging	1.00
R4788:Rasal3	UTSW	17	32399338	missense	probably benign	0.00
R4903:Rasal3	UTSW	17	32397383	missense	probably damaging	1.00
R5185:Rasal3	UTSW	17	32396790	missense	probably damaging	1.00
R5372:Rasal3	UTSW	17	32391344	missense	probably benign	0.05
R5433:Rasal3	UTSW	17	32393601	missense	probably benign	0.00
R5472:Rasal3	UTSW	17	32396669	missense	probably damaging	1.00
R5920:Rasal3	UTSW	17	32395169	missense	probably damaging	1.00
R6436:Rasal3	UTSW	17	32397504	missense	probably damaging	1.00
R6837:Rasal3	UTSW	17	32403070	missense	probably benign	0.17
R7047:Rasal3	UTSW	17	32396484	missense	probably damaging	1.00
R7109:Rasal3	UTSW	17	32392709	missense	probably damaging	1.00
R7179:Rasal3	UTSW	17	32392417	missense	probably damaging	0.99
R7571:Rasal3	UTSW	17	32395861	missense	possibly damaging	0.76
R7768:Rasal3	UTSW	17	32396793	missense	probably damaging	0.96
R7874:Rasal3	UTSW	17	32396707	missense	possibly damaging	0.75
R8155:Rasal3	UTSW	17	32397407	missense	possibly damaging	0.93
R8265:Rasal3	UTSW	17	32395820	critical splice donor site	probably null
R8544:Rasal3	UTSW	17	32392119	missense	probably benign
RF004:Rasal3	UTSW	17	32391107	missense	probably damaging	1.00
X0027:Rasal3	UTSW	17	32391219	missense	probably damaging	1.00
X0027:Rasal3	UTSW	17	32392526	missense	probably benign	0.00
X0065:Rasal3	UTSW	17	32403286	missense	probably damaging	1.00
Z1177:Rasal3	UTSW	17	32399310	missense	probably benign	0.06

Posted On

2015-04-16