Mutagenetix > Incidental Mutation

Incidental Mutation 'R9746:Rasal1'

732111

Institutional Source

Beutler Lab

Gene Symbol

Rasal1

Ensembl Gene

ENSMUSG00000029602

Gene Name

RAS protein activator like 1 (GAP1 like)

Synonyms

MRASAL

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120648812-120679597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120662293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 207 (G207D)

Ref Sequence

ENSEMBL: ENSMUSP00000031606 (fasta)

Gene Model

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

AlphaFold

Q9Z268

Predicted Effect

probably damaging
Transcript: ENSMUST00000031606
AA Change: G207D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031606
Gene: ENSMUSG00000029602
AA Change: G207D

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: ENSMUST00000156722
AA Change: G207D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123266
Gene: ENSMUSG00000029602
AA Change: G207D

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,332,031	H307L	probably benign	Het
Acnat1	A	T	4: 49,450,652	L153H	probably damaging	Het
Actn4	A	T	7: 28,919,006	D76E	probably benign	Het
Afdn	A	C	17: 13,846,520	M640L	probably benign	Het
Angpt1	A	T	15: 42,676,441	F7L	probably benign	Het
Ap3b2	A	G	7: 81,476,344	F373S	probably damaging	Het
Armc2	T	A	10: 41,924,461	Y650F	probably damaging	Het
Atg2b	G	T	12: 105,663,938	T398K	possibly damaging	Het
Baz1a	CCATT	CCATTCATT	12: 54,975,110		probably null	Het
Capn8	G	A	1: 182,611,105		probably null	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cfap54	T	C	10: 92,801,219	N3103D	probably benign	Het
Chd9	G	A	8: 91,011,435	R1565Q	unknown	Het
Cir1	G	A	2: 73,303,808	T139I	probably damaging	Het
Cmah	T	C	13: 24,435,690		probably null	Het
Cnpy1	T	C	5: 28,245,802	D2G	probably damaging	Het
Dennd4a	A	T	9: 64,894,511	T979S	probably benign	Het
Dnah11	T	A	12: 117,878,576	K4423*	probably null	Het
Dnajb4	A	G	3: 152,186,683	I171T	possibly damaging	Het
Dpm1	A	T	2: 168,230,387		probably null	Het
Dtwd1	A	G	2: 126,154,675	T27A	probably benign	Het
Ep400	C	T	5: 110,742,006	D464N	unknown	Het
Epb42	A	T	2: 121,024,610	I498N	probably benign	Het
Fhod1	A	G	8: 105,337,416	V219A	unknown	Het
Gabrb2	A	T	11: 42,626,609	E419D	probably benign	Het
Galnt18	A	T	7: 111,471,961	N615K	possibly damaging	Het
Gm13084	T	C	4: 143,810,316	T482A	probably benign	Het
Gm29106	T	A	1: 118,199,524	H315Q	possibly damaging	Het
Gprin2	G	T	14: 34,195,658	Q52K	probably benign	Het
Grm4	A	T	17: 27,438,791	Y414N	probably damaging	Het
Gulo	C	A	14: 65,988,181		probably null	Het
H2-M1	A	C	17: 36,670,105	V313G	possibly damaging	Het
Hectd3	T	C	4: 116,995,754	W118R	probably damaging	Het
Hs6st3	G	A	14: 119,869,080	C300Y	probably damaging	Het
Il1rl2	T	A	1: 40,365,359	S547T	possibly damaging	Het
Kank1	G	T	19: 25,409,508	V182F	probably damaging	Het
Kif20b	T	A	19: 34,950,749	L1137*	probably null	Het
Klhl7	A	G	5: 24,126,820		probably null	Het
Krt13	T	A	11: 100,121,161	D112V	possibly damaging	Het
Ltbr	A	G	6: 125,313,101	V71A	probably benign	Het
Ly6g	T	C	15: 75,158,609	V92A	probably benign	Het
Map2k3	G	A	11: 60,932,103		probably benign	Het
Mast2	A	C	4: 116,311,730	D842E	probably benign	Het
Mpo	T	G	11: 87,803,523	M693R	probably benign	Het
Myo15	C	A	11: 60,487,408	S212*	probably null	Het
Nadk2	C	T	15: 9,106,736	R37*	probably null	Het
Ncapd3	G	A	9: 27,063,359	R709H	probably benign	Het
Nck2	T	A	1: 43,533,732	Y55*	probably null	Het
Neurl4	A	G	11: 69,907,475	D777G	probably damaging	Het
Npr2	G	A	4: 43,633,527	V224M	possibly damaging	Het
Nptx2	T	A	5: 144,548,140	S148T	probably benign	Het
Nr1d1	T	C	11: 98,770,334	T369A	probably benign	Het
Nub1	T	G	5: 24,703,485	F411V	probably damaging	Het
Nup188	T	A	2: 30,304,288	Y158N	probably damaging	Het
Olfr1031	A	G	2: 85,992,747	Y310C	probably benign	Het
Olfr513	A	G	7: 108,755,432	N192S	probably benign	Het
Olfr716	A	T	7: 107,147,453	I46F	probably benign	Het
Olfr804	A	T	10: 129,705,339	I154F	probably damaging	Het
Olfr897-ps1	T	A	9: 38,309,632	I279K	unknown	Het
Orc2	C	T	1: 58,497,451	G85S	probably damaging	Het
Pak1ip1	T	A	13: 41,009,267	V182D	probably damaging	Het
Parvg	T	G	15: 84,326,223	C30W	probably benign	Het
Pcdha1	T	A	18: 36,932,660	D792E	probably benign	Het
Ppp1r13b	G	T	12: 111,833,808	Q635K	probably benign	Het
Psg16	A	G	7: 17,098,161	I341V	probably benign	Het
Psme4	C	T	11: 30,876,868	Q1796*	probably null	Het
Ptn	T	G	6: 36,715,764		probably null	Het
Rapsn	C	T	2: 91,045,478	P400L	probably damaging	Het
Rdx	A	G	9: 52,063,578	I5V	probably benign	Het
Rpf1	A	G	3: 146,517,778	I105T	probably damaging	Het
Rps15a	A	T	7: 118,109,997	F79I	possibly damaging	Het
Rwdd2b	G	A	16: 87,436,753	P153L	probably benign	Het
Scaf11	G	A	15: 96,420,417	S422L	probably damaging	Het
Serpinb3b	T	A	1: 107,154,673	E287V	possibly damaging	Het
Sgta	T	C	10: 81,051,284	D49G	possibly damaging	Het
Sin3a	T	A	9: 57,118,074	M1068K	probably benign	Het
Slc12a9	G	A	5: 137,321,409	R615W	probably damaging	Het
Slc26a3	T	A	12: 31,449,146	S151T	probably benign	Het
Slc4a8	C	A	15: 100,783,840	H111N	probably damaging	Het
Syngr1	G	A	15: 80,091,458	R22K	probably benign	Het
Tars2	A	T	3: 95,754,765	V25E	probably benign	Het
Tbx15	A	G	3: 99,352,331	Y506C	probably damaging	Het
Tgm4	A	T	9: 123,046,569	K162N	possibly damaging	Het
Tmem253	A	G	14: 52,017,982	E83G	probably damaging	Het
Trp73	G	A	4: 154,081,402	T118I	probably damaging	Het
Trpm7	A	G	2: 126,822,658	S934P	possibly damaging	Het
Ttc23l	G	A	15: 10,523,643	S330L	probably benign	Het
Tub	A	C	7: 109,025,638	D199A	probably benign	Het
Uri1	A	C	7: 37,996,685		probably null	Het
Usp16	C	T	16: 87,479,232	A486V	probably benign	Het
Vmn1r12	A	G	6: 57,159,541	I208V	probably benign	Het
Vmn2r116	A	T	17: 23,401,823	M844L	probably benign	Het
Vmn2r13	C	T	5: 109,191,907		probably null	Het
Xpnpep1	T	C	19: 53,013,461	D118G	probably damaging	Het
Zfp111	G	A	7: 24,198,642	P516S	possibly 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
IGL02143:Rasal1	APN	5	120652852	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
PIT4618001:Rasal1	UTSW	5	120670376	missense	probably damaging	0.99
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
R7042:Rasal1	UTSW	5	120663960	splice site	probably null
R7194:Rasal1	UTSW	5	120675492	missense	probably benign
R7356:Rasal1	UTSW	5	120654825	missense	possibly damaging	0.65
R7406:Rasal1	UTSW	5	120662937	missense	probably benign	0.11
R7662:Rasal1	UTSW	5	120662184	missense	probably benign	0.36
R8089:Rasal1	UTSW	5	120671578	missense	probably damaging	1.00
R8320:Rasal1	UTSW	5	120666355	missense	probably benign	0.01
R8321:Rasal1	UTSW	5	120666355	missense	probably benign	0.01
R8362:Rasal1	UTSW	5	120675420	missense	probably damaging	1.00
R8368:Rasal1	UTSW	5	120671550	missense	probably damaging	1.00
R8379:Rasal1	UTSW	5	120666355	missense	probably benign	0.01
R8380:Rasal1	UTSW	5	120666355	missense	probably benign	0.01
R8383:Rasal1	UTSW	5	120666355	missense	probably benign	0.01
R8710:Rasal1	UTSW	5	120662937	missense	probably benign	0.11
R8817:Rasal1	UTSW	5	120670351	missense	probably damaging	0.96
R9258:Rasal1	UTSW	5	120655090	missense	possibly damaging	0.91
R9300:Rasal1	UTSW	5	120664107	missense	probably damaging	1.00
R9394:Rasal1	UTSW	5	120678681	missense	probably benign
X0057:Rasal1	UTSW	5	120664512	critical splice donor site	probably null
Z1176:Rasal1	UTSW	5	120652816	missense	probably damaging	1.00
Z1176:Rasal1	UTSW	5	120664849	missense	probably benign	0.00
Z1177:Rasal1	UTSW	5	120676838	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCACATCGGACCCATTTG -3'
(R):5'- TCACTACAACCTTTGGCTGAC -3'

Sequencing Primer
(F):5'- AAACTTCGGTGAGCGAGCC -3'
(R):5'- TGACCCATGGACAGTGAGACTC -3'

Posted On

2022-11-14