Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02143:Rasal1'

281661

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rasal1

Ensembl Gene

ENSMUSG00000029602

Gene Name

RAS protein activator like 1 (GAP1 like)

Synonyms

MRASAL

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02143

Quality Score

Status

Chromosome

Chromosomal Location

120648812-120679597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120652852 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 35 (D35G)

Ref Sequence

ENSEMBL: ENSMUSP00000123266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031606] [ENSMUST00000125804] [ENSMUST00000156722]

Predicted Effect

probably damaging
Transcript: ENSMUST00000031606
AA Change: D35G

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

SMART Domains

Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: D35G

Domain	Start	End	E-Value	Type
C2	6	113	7.74e-13	SMART
C2	134	231	2e-15	SMART
RasGAP	241	604	3.96e-166	SMART
PH	566	674	2.76e-16	SMART
BTK	674	710	2.24e-4	SMART
low complexity region	731	745	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000125804
AA Change: D35G

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

SMART Domains

Protein: ENSMUSP00000119913
Gene: ENSMUSG00000029602
AA Change: D35G

Domain	Start	End	E-Value	Type
Pfam:C2	7	73	4.5e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148695

Predicted Effect

probably damaging
Transcript: ENSMUST00000156722
AA Change: D35G

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

SMART Domains

Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: D35G

Domain	Start	End	E-Value	Type
C2	6	113	7.74e-13	SMART
C2	134	231	2e-15	SMART
RasGAP	241	604	3.96e-166	SMART
PH	566	674	2.76e-16	SMART
BTK	674	710	2.24e-4	SMART
low complexity region	731	745	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161848

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	C	A	19: 58,789,252	R34L	possibly damaging	Het
Abhd5	T	C	9: 122,365,213	M1T	probably null	Het
Ager	G	A	17: 34,599,118	G183E	probably damaging	Het
Alcam	C	A	16: 52,305,619	V112L	probably damaging	Het
Amot	T	A	X: 145,487,028	Q204H	probably damaging	Het
Ankar	C	T	1: 72,658,649		probably null	Het
Armc9	A	G	1: 86,176,865	M279V	possibly damaging	Het
Bpifb1	C	T	2: 154,209,929	T218I	probably benign	Het
Cacna1f	A	C	X: 7,613,995		probably benign	Het
Cacna2d2	T	C	9: 107,518,275		probably null	Het
Ccdc57	A	T	11: 120,861,243	C837*	probably null	Het
Ctbp2	G	A	7: 132,991,156	A808V	probably damaging	Het
Dcbld2	T	C	16: 58,448,526		probably null	Het
Dis3	T	C	14: 99,091,318		probably benign	Het
Disp2	T	C	2: 118,789,969	F394S	probably damaging	Het
Dnah1	T	C	14: 31,283,289	N2336S	probably damaging	Het
Drap1	C	A	19: 5,423,843	L66F	probably damaging	Het
Eif5a2	C	T	3: 28,793,739	R109C	probably benign	Het
Enpp1	A	T	10: 24,677,974	D105E	probably damaging	Het
Evi5l	G	A	8: 4,191,293	M275I	probably damaging	Het
Flt1	T	C	5: 147,578,436	T1059A	probably benign	Het
Fndc3c1	T	C	X: 106,472,734		probably benign	Het
Git1	T	C	11: 77,505,987	V645A	possibly damaging	Het
Gm7735	T	A	16: 89,169,549	C20*	probably null	Het
Ighv1-42	G	T	12: 114,937,286	P60T	probably benign	Het
Jakmip2	A	T	18: 43,563,285	L533Q	probably damaging	Het
Kdm2b	C	T	5: 122,947,835	E238K	probably damaging	Het
Lpin2	T	C	17: 71,243,926	S694P	probably damaging	Het
Mab21l2	C	T	3: 86,547,255	R146Q	possibly damaging	Het
Mmp1b	A	T	9: 7,386,400	S174T	probably benign	Het
Neb	T	C	2: 52,291,199	Y1132C	probably damaging	Het
Nhsl1	A	T	10: 18,511,635	H219L	possibly damaging	Het
Nwd2	T	A	5: 63,791,653		probably null	Het
Obp1a	A	C	X: 78,090,843	M18R	possibly damaging	Het
Olfr525	A	T	7: 140,323,592	K298*	probably null	Het
Olfr695	T	C	7: 106,873,973	T91A	probably benign	Het
Pabpc5	T	A	X: 119,927,991	M1K	probably null	Het
Paxip1	A	G	5: 27,775,598		probably benign	Het
Perm1	A	G	4: 156,218,043	E348G	probably benign	Het
Pfkfb1	T	C	X: 150,622,142	F170L	probably damaging	Het
Pou3f3	A	G	1: 42,698,526	M461V	probably benign	Het
Ppfia2	G	A	10: 106,857,499	D622N	probably damaging	Het
Prtg	T	G	9: 72,892,324	S801R	probably damaging	Het
Rars2	T	A	4: 34,623,404		probably benign	Het
Repin1	T	A	6: 48,597,121	L272Q	probably damaging	Het
Stk36	T	C	1: 74,616,569		probably benign	Het
Tbxa2r	A	G	10: 81,334,486	T269A	probably benign	Het
Tmem132c	G	A	5: 127,563,402	R879Q	probably benign	Het
Vmn1r78	C	A	7: 12,152,480	A6E	probably benign	Het
Vps45	A	T	3: 96,033,821	N369K	probably benign	Het
Vps45	T	C	3: 96,019,646	I530V	probably benign	Het
Zkscan16	G	A	4: 58,956,911	G398R	probably damaging	Het

Other mutations in Rasal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Rasal1	APN	5	120664807	missense	probably damaging	1.00
IGL01700:Rasal1	APN	5	120676817	missense	probably benign	0.06
IGL01790:Rasal1	APN	5	120670318	missense	possibly damaging	0.61
IGL01866:Rasal1	APN	5	120675423	missense	probably damaging	1.00
IGL02527:Rasal1	APN	5	120666404	missense	probably damaging	0.98
IGL02565:Rasal1	APN	5	120676780	splice site	probably benign
IGL02710:Rasal1	APN	5	120666431	missense	possibly damaging	0.71
R0270:Rasal1	UTSW	5	120674729	missense	probably damaging	0.97
R0281:Rasal1	UTSW	5	120674605	missense	probably benign
R0673:Rasal1	UTSW	5	120670384	missense	probably benign	0.26
R1227:Rasal1	UTSW	5	120670307	missense	probably damaging	0.99
R1475:Rasal1	UTSW	5	120662982	missense	possibly damaging	0.55
R1486:Rasal1	UTSW	5	120654852	missense	probably damaging	1.00
R1557:Rasal1	UTSW	5	120676849	missense	possibly damaging	0.87
R1651:Rasal1	UTSW	5	120652845	nonsense	probably null
R1792:Rasal1	UTSW	5	120664756	missense	probably benign	0.06
R2148:Rasal1	UTSW	5	120662031	missense	probably damaging	0.97
R2964:Rasal1	UTSW	5	120671620	missense	probably damaging	0.99
R2966:Rasal1	UTSW	5	120671620	missense	probably damaging	0.99
R2983:Rasal1	UTSW	5	120654862	missense	probably benign	0.45
R4090:Rasal1	UTSW	5	120675609	missense	possibly damaging	0.95
R4205:Rasal1	UTSW	5	120659563	missense	probably benign	0.21
R4643:Rasal1	UTSW	5	120678964	missense	probably benign	0.05
R4979:Rasal1	UTSW	5	120678676	missense	probably benign
R5171:Rasal1	UTSW	5	120663764	missense	probably benign
R5187:Rasal1	UTSW	5	120675395	missense	probably benign	0.13
R5877:Rasal1	UTSW	5	120679070	utr 3 prime	probably benign
R5924:Rasal1	UTSW	5	120675517	missense	probably damaging	1.00
R6037:Rasal1	UTSW	5	120649501	missense	possibly damaging	0.55
R6037:Rasal1	UTSW	5	120649501	missense	possibly damaging	0.55
R6136:Rasal1	UTSW	5	120675478	missense	possibly damaging	0.84
R6159:Rasal1	UTSW	5	120659608	missense	probably damaging	1.00
R6292:Rasal1	UTSW	5	120659620	missense	probably damaging	0.97
R6548:Rasal1	UTSW	5	120674725	missense	probably benign	0.00
X0057:Rasal1	UTSW	5	120664512	critical splice donor site	probably null

Posted On

2015-04-16