Mutagenetix > Incidental Mutation

Incidental Mutation 'R0270:Rasal1'

35205

Institutional Source

Beutler Lab

Gene Symbol

Rasal1

Ensembl Gene

ENSMUSG00000029602

Gene Name

RAS protein activator like 1 (GAP1 like)

Synonyms

MRASAL

MMRRC Submission

038496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0270 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

120786877-120817662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 120812794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 606 (P606Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123266 (fasta)

Gene Model

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

AlphaFold

Q9Z268

Predicted Effect

probably damaging
Transcript: ENSMUST00000031606
AA Change: P606Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: P606Q

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: ENSMUST00000154759

Predicted Effect

probably damaging
Transcript: ENSMUST00000156722
AA Change: P606Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: P606Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.7%
3x: 97.7%
10x: 96.0%
20x: 93.2%

Validation Efficiency

99% (113/114)

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	A	1: 120,093,906 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,440 (GRCm39)	N304K	probably benign	Het
Abcf3	T	A	16: 20,378,918 (GRCm39)		probably null	Het
Acadm	C	T	3: 153,641,961 (GRCm39)	M190I	possibly damaging	Het
Adamtsl3	G	A	7: 82,206,032 (GRCm39)	R739Q	probably damaging	Het
Ank1	T	A	8: 23,578,941 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,540,626 (GRCm39)		probably benign	Het
Arhgdib	A	G	6: 136,903,732 (GRCm39)	V31A	probably damaging	Het
Arid4a	A	G	12: 71,119,406 (GRCm39)	R342G	probably damaging	Het
Asic3	C	T	5: 24,622,700 (GRCm39)	L517F	probably benign	Het
Atxn7l1	C	T	12: 33,392,150 (GRCm39)	P242L	possibly damaging	Het
AY761185	T	A	8: 21,434,616 (GRCm39)	E37D	possibly damaging	Het
Babam1	T	A	8: 71,851,050 (GRCm39)	D104E	probably damaging	Het
Batf	A	T	12: 85,755,446 (GRCm39)	T100S	probably benign	Het
Blcap	A	T	2: 157,399,897 (GRCm39)	Y59*	probably null	Het
Cacnb3	G	A	15: 98,540,440 (GRCm39)	A350T	probably damaging	Het
Cdk15	T	A	1: 59,349,965 (GRCm39)	V319D	probably damaging	Het
Cenpf	T	C	1: 189,382,911 (GRCm39)	H2661R	probably benign	Het
Cenpq	T	C	17: 41,240,941 (GRCm39)	E106G	probably damaging	Het
Cfap43	A	G	19: 47,785,642 (GRCm39)		probably benign	Het
Cfb	G	A	17: 35,079,362 (GRCm39)	S778L	possibly damaging	Het
Clec2m	A	T	6: 129,302,571 (GRCm39)	L152*	probably null	Het
Clspn	T	A	4: 126,467,029 (GRCm39)	N631K	probably damaging	Het
Cntn2	T	A	1: 132,449,462 (GRCm39)	T660S	probably damaging	Het
Cntrob	T	A	11: 69,202,167 (GRCm39)	H475L	possibly damaging	Het
Ddx46	T	C	13: 55,821,917 (GRCm39)	I863T	probably benign	Het
Dnah11	G	A	12: 118,004,748 (GRCm39)	T2191I	probably damaging	Het
Dock9	T	C	14: 121,813,411 (GRCm39)	T1703A	probably benign	Het
Fam13c	C	T	10: 70,380,343 (GRCm39)	P424S	probably benign	Het
Fan1	T	C	7: 63,998,619 (GRCm39)	N968D	probably benign	Het
Fbxl20	A	T	11: 97,989,329 (GRCm39)		probably benign	Het
Fkbp1b	A	T	12: 4,888,229 (GRCm39)		probably benign	Het
G930045G22Rik	T	A	6: 50,824,039 (GRCm39)		noncoding transcript	Het
Gm28042	C	A	2: 119,872,073 (GRCm39)	R1008S	probably benign	Het
Gon4l	G	A	3: 88,765,707 (GRCm39)	S376N	probably damaging	Het
Gstt3	C	A	10: 75,616,749 (GRCm39)	R15L	probably damaging	Het
Gtdc1	A	T	2: 44,642,186 (GRCm39)	S73T	possibly damaging	Het
Hhatl	A	G	9: 121,613,786 (GRCm39)	S419P	probably benign	Het
Hirip3	T	G	7: 126,462,363 (GRCm39)	S46R	probably damaging	Het
Hsf2	A	G	10: 57,378,735 (GRCm39)	T204A	probably benign	Het
Impg2	G	A	16: 56,089,378 (GRCm39)	E1108K	possibly damaging	Het
Itgb2l	G	T	16: 96,224,130 (GRCm39)		probably benign	Het
Itih5	A	T	2: 10,256,075 (GRCm39)	N847I	probably benign	Het
Kif1a	T	C	1: 92,982,164 (GRCm39)		probably benign	Het
Klhl1	T	A	14: 96,755,780 (GRCm39)		probably benign	Het
Ktn1	T	A	14: 47,952,119 (GRCm39)	D963E	probably benign	Het
Lclat1	T	A	17: 73,547,022 (GRCm39)	V313E	probably benign	Het
Lrrn4	T	C	2: 132,712,639 (GRCm39)	S395G	probably benign	Het
Macroh2a1	G	A	13: 56,243,927 (GRCm39)		probably benign	Het
Mbtps1	G	A	8: 120,264,856 (GRCm39)		probably benign	Het
Me1	A	G	9: 86,478,257 (GRCm39)		probably benign	Het
Mov10	C	A	3: 104,702,721 (GRCm39)	C948F	probably benign	Het
Mterf1a	G	A	5: 3,940,990 (GRCm39)	Q293*	probably null	Het
Nfkb2	A	T	19: 46,300,065 (GRCm39)	M838L	possibly damaging	Het
Nhlrc2	T	A	19: 56,540,302 (GRCm39)	L97Q	probably damaging	Het
Nr6a1	A	T	2: 38,629,032 (GRCm39)	Y331N	possibly damaging	Het
Nup214	C	T	2: 31,924,826 (GRCm39)	A1785V	probably damaging	Het
Ogg1	C	T	6: 113,306,217 (GRCm39)	T138I	probably benign	Het
Or5ac20	A	G	16: 59,104,116 (GRCm39)	V248A	probably damaging	Het
Or5b107	A	G	19: 13,143,251 (GRCm39)	Y291C	probably damaging	Het
Or5b124	A	G	19: 13,611,048 (GRCm39)	Y191C	probably damaging	Het
Or7g17	T	A	9: 18,768,127 (GRCm39)	Y60N	probably damaging	Het
Plod2	G	T	9: 92,466,574 (GRCm39)	R178L	probably benign	Het
Polr3b	T	A	10: 84,554,339 (GRCm39)	L1017Q	probably benign	Het
Postn	C	A	3: 54,291,971 (GRCm39)	T724N	probably damaging	Het
Ppm1l	T	G	3: 69,225,309 (GRCm39)		probably benign	Het
Prpf8	T	G	11: 75,396,075 (GRCm39)	L1983R	probably damaging	Het
Psma7	A	G	2: 179,681,193 (GRCm39)	V59A	probably benign	Het
Qser1	T	A	2: 104,619,306 (GRCm39)	Y502F	probably benign	Het
Rad50	T	C	11: 53,558,852 (GRCm39)	D1129G	probably damaging	Het
Rgs6	A	G	12: 83,180,463 (GRCm39)	Y438C	probably damaging	Het
Rnf180	A	G	13: 105,388,774 (GRCm39)	C73R	probably benign	Het
Rnf216	T	A	5: 143,065,996 (GRCm39)	I474F	possibly damaging	Het
Sdha	A	T	13: 74,480,366 (GRCm39)	L371Q	probably damaging	Het
Sdk1	T	G	5: 142,070,321 (GRCm39)	L1162R	possibly damaging	Het
Sh3rf2	T	C	18: 42,237,146 (GRCm39)	I223T	probably damaging	Het
Sirpb1a	A	G	3: 15,475,587 (GRCm39)	V316A	probably damaging	Het
Slc12a4	A	T	8: 106,672,021 (GRCm39)	I897N	probably benign	Het
Slc35d1	A	T	4: 103,048,035 (GRCm39)	V243E	probably damaging	Het
Slc4a11	T	A	2: 130,532,852 (GRCm39)	K200N	possibly damaging	Het
Slc9a8	T	A	2: 167,293,216 (GRCm39)	M188K	probably damaging	Het
Slco1a8	T	A	6: 141,918,137 (GRCm39)	I580F	possibly damaging	Het
Snrnp200	T	C	2: 127,074,902 (GRCm39)	S1492P	probably damaging	Het
Sphk2	T	C	7: 45,360,149 (GRCm39)	*618W	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tdpoz3	A	G	3: 93,734,231 (GRCm39)	N302S	probably benign	Het
Tdrd6	T	C	17: 43,935,199 (GRCm39)	M1950V	probably benign	Het
Tmem39a	A	G	16: 38,384,675 (GRCm39)		probably benign	Het
Trip4	A	T	9: 65,765,640 (GRCm39)	I353K	probably damaging	Het
Trip6	A	T	5: 137,311,103 (GRCm39)	F204L	probably benign	Het
Trpm4	T	A	7: 44,968,677 (GRCm39)	I419F	possibly damaging	Het
Ttn	C	A	2: 76,775,140 (GRCm39)	E1967D	probably damaging	Het
Uba2	C	T	7: 33,850,281 (GRCm39)	V391M	possibly damaging	Het
Ubr4	T	G	4: 139,206,746 (GRCm39)		probably benign	Het
Upf1	G	A	8: 70,788,295 (GRCm39)		probably benign	Het
Vmn1r228	A	C	17: 20,996,858 (GRCm39)	V220G	possibly damaging	Het
Vmn2r79	A	G	7: 86,652,594 (GRCm39)	M429V	probably benign	Het
Vps36	C	T	8: 22,700,472 (GRCm39)	T210I	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Ybx1	C	T	4: 119,138,788 (GRCm39)	G126D	probably benign	Het
Yipf5	C	A	18: 40,339,460 (GRCm39)		probably benign	Het
Zbtb47	A	G	9: 121,596,641 (GRCm39)	T666A	probably benign	Het
Zdhhc5	A	C	2: 84,520,459 (GRCm39)	S573A	probably benign	Het
Zfp457	A	T	13: 67,441,991 (GRCm39)	C99S	probably damaging	Het
Zfp52	T	A	17: 21,781,564 (GRCm39)	C471S	probably damaging	Het
Zfp558	C	T	9: 18,379,252 (GRCm39)	V71I	probably damaging	Het
Zfp655	A	G	5: 145,181,267 (GRCm39)	Y375C	probably damaging	Het
Zfp882	A	T	8: 72,668,459 (GRCm39)	T429S	probably benign	Het
Zmym2	T	C	14: 57,187,141 (GRCm39)		probably null	Het

Other mutations in Rasal1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00909:Rasal1	APN	5	120,802,872 (GRCm39)	missense	probably damaging	1.00
IGL01700:Rasal1	APN	5	120,814,882 (GRCm39)	missense	probably benign	0.06
IGL01790:Rasal1	APN	5	120,808,383 (GRCm39)	missense	possibly damaging	0.61
IGL01866:Rasal1	APN	5	120,813,488 (GRCm39)	missense	probably damaging	1.00
IGL02143:Rasal1	APN	5	120,790,917 (GRCm39)	missense	probably damaging	1.00
IGL02527:Rasal1	APN	5	120,804,469 (GRCm39)	missense	probably damaging	0.98
IGL02565:Rasal1	APN	5	120,814,845 (GRCm39)	splice site	probably benign
IGL02710:Rasal1	APN	5	120,804,496 (GRCm39)	missense	possibly damaging	0.71
PIT4618001:Rasal1	UTSW	5	120,808,441 (GRCm39)	missense	probably damaging	0.99
R0281:Rasal1	UTSW	5	120,812,670 (GRCm39)	missense	probably benign
R0673:Rasal1	UTSW	5	120,808,449 (GRCm39)	missense	probably benign	0.26
R1227:Rasal1	UTSW	5	120,808,372 (GRCm39)	missense	probably damaging	0.99
R1475:Rasal1	UTSW	5	120,801,047 (GRCm39)	missense	possibly damaging	0.55
R1486:Rasal1	UTSW	5	120,792,917 (GRCm39)	missense	probably damaging	1.00
R1557:Rasal1	UTSW	5	120,814,914 (GRCm39)	missense	possibly damaging	0.87
R1651:Rasal1	UTSW	5	120,790,910 (GRCm39)	nonsense	probably null
R1792:Rasal1	UTSW	5	120,802,821 (GRCm39)	missense	probably benign	0.06
R2148:Rasal1	UTSW	5	120,800,096 (GRCm39)	missense	probably damaging	0.97
R2964:Rasal1	UTSW	5	120,809,685 (GRCm39)	missense	probably damaging	0.99
R2966:Rasal1	UTSW	5	120,809,685 (GRCm39)	missense	probably damaging	0.99
R2983:Rasal1	UTSW	5	120,792,927 (GRCm39)	missense	probably benign	0.45
R4090:Rasal1	UTSW	5	120,813,674 (GRCm39)	missense	possibly damaging	0.95
R4205:Rasal1	UTSW	5	120,797,628 (GRCm39)	missense	probably benign	0.21
R4643:Rasal1	UTSW	5	120,817,029 (GRCm39)	missense	probably benign	0.05
R4979:Rasal1	UTSW	5	120,816,741 (GRCm39)	missense	probably benign
R5171:Rasal1	UTSW	5	120,801,829 (GRCm39)	missense	probably benign
R5187:Rasal1	UTSW	5	120,813,460 (GRCm39)	missense	probably benign	0.13
R5877:Rasal1	UTSW	5	120,817,135 (GRCm39)	utr 3 prime	probably benign
R5924:Rasal1	UTSW	5	120,813,582 (GRCm39)	missense	probably damaging	1.00
R6037:Rasal1	UTSW	5	120,787,566 (GRCm39)	missense	possibly damaging	0.55
R6037:Rasal1	UTSW	5	120,787,566 (GRCm39)	missense	possibly damaging	0.55
R6136:Rasal1	UTSW	5	120,813,543 (GRCm39)	missense	possibly damaging	0.84
R6159:Rasal1	UTSW	5	120,797,673 (GRCm39)	missense	probably damaging	1.00
R6292:Rasal1	UTSW	5	120,797,685 (GRCm39)	missense	probably damaging	0.97
R6548:Rasal1	UTSW	5	120,812,790 (GRCm39)	missense	probably benign	0.00
R7042:Rasal1	UTSW	5	120,802,025 (GRCm39)	splice site	probably null
R7194:Rasal1	UTSW	5	120,813,557 (GRCm39)	missense	probably benign
R7356:Rasal1	UTSW	5	120,792,890 (GRCm39)	missense	possibly damaging	0.65
R7406:Rasal1	UTSW	5	120,801,002 (GRCm39)	missense	probably benign	0.11
R7662:Rasal1	UTSW	5	120,800,249 (GRCm39)	missense	probably benign	0.36
R8089:Rasal1	UTSW	5	120,809,643 (GRCm39)	missense	probably damaging	1.00
R8320:Rasal1	UTSW	5	120,804,420 (GRCm39)	missense	probably benign	0.01
R8321:Rasal1	UTSW	5	120,804,420 (GRCm39)	missense	probably benign	0.01
R8362:Rasal1	UTSW	5	120,813,485 (GRCm39)	missense	probably damaging	1.00
R8368:Rasal1	UTSW	5	120,809,615 (GRCm39)	missense	probably damaging	1.00
R8379:Rasal1	UTSW	5	120,804,420 (GRCm39)	missense	probably benign	0.01
R8380:Rasal1	UTSW	5	120,804,420 (GRCm39)	missense	probably benign	0.01
R8383:Rasal1	UTSW	5	120,804,420 (GRCm39)	missense	probably benign	0.01
R8710:Rasal1	UTSW	5	120,801,002 (GRCm39)	missense	probably benign	0.11
R8817:Rasal1	UTSW	5	120,808,416 (GRCm39)	missense	probably damaging	0.96
R9258:Rasal1	UTSW	5	120,793,155 (GRCm39)	missense	possibly damaging	0.91
R9300:Rasal1	UTSW	5	120,802,172 (GRCm39)	missense	probably damaging	1.00
R9394:Rasal1	UTSW	5	120,816,746 (GRCm39)	missense	probably benign
R9746:Rasal1	UTSW	5	120,800,358 (GRCm39)	missense	probably damaging	1.00
X0057:Rasal1	UTSW	5	120,802,577 (GRCm39)	critical splice donor site	probably null
Z1176:Rasal1	UTSW	5	120,802,914 (GRCm39)	missense	probably benign	0.00
Z1176:Rasal1	UTSW	5	120,790,881 (GRCm39)	missense	probably damaging	1.00
Z1177:Rasal1	UTSW	5	120,814,903 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGTCTGAGACATCACTGGATTG -3'
(R):5'- CCCTCGGGTTACACTCATTAGCAC -3'

Sequencing Primer
(F):5'- ACATCACTGGATTGACTAGGAC -3'
(R):5'- cacacacacacacacacag -3'

Posted On

2013-05-09