Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Rasal3'

39725

Institutional Source

Beutler Lab

Gene Symbol

Rasal3

Ensembl Gene

ENSMUSG00000052142

Gene Name

RAS protein activator like 3

Synonyms

A430107D22Rik

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

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

Stock #

R0452 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32609633-32622557 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 32614791 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000064084
Gene: ENSMUSG00000052142

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 benign
Transcript: ENSMUST00000135618

SMART Domains

Protein: ENSMUSP00000116107
Gene: ENSMUSG00000052142

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 benign
Transcript: ENSMUST00000136375

SMART Domains

Protein: ENSMUSP00000118738
Gene: ENSMUSG00000052142

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 benign
Transcript: ENSMUST00000137458

SMART Domains

Protein: ENSMUSP00000123141
Gene: ENSMUSG00000052142

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Stat5b	A	T	11: 100,689,156 (GRCm39)	I246N	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	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
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
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'- GCAGTCCAGCACAGACAGTCTC -3'
(R):5'- CCTCAGGCATTGGTGACAGACC -3'

Sequencing Primer
(F):5'- gagtcatcagtgaggaaggag -3'
(R):5'- CTAGGAACCGCAGAGCTG -3'

Posted On

2013-05-23