Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Rasa4'

544894

Institutional Source

Beutler Lab

Gene Symbol

Rasa4

Ensembl Gene

ENSMUSG00000004952

Gene Name

RAS p21 protein activator 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136083916-136111860 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136101363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 324 (D324E)

Ref Sequence

ENSEMBL: ENSMUSP00000098136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042135] [ENSMUST00000100570]

AlphaFold

Q6PFQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042135
AA Change: D324E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: D324E

Domain	Start	End	E-Value	Type
C2	6	103	5.43e-17	SMART
C2	134	231	1.78e-21	SMART
RasGAP	243	604	3.47e-139	SMART
PH	566	674	1.81e-11	SMART
BTK	674	710	3.6e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100570
AA Change: D324E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: D324E

Domain	Start	End	E-Value	Type
C2	6	103	5.43e-17	SMART
C2	134	231	1.78e-21	SMART
RasGAP	243	558	3.48e-89	SMART
PH	520	628	1.81e-11	SMART
BTK	628	664	3.6e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122887

SMART Domains

Protein: ENSMUSP00000118929
Gene: ENSMUSG00000004952

Domain	Start	End	E-Value	Type
PH	6	103	1.36e-6	SMART
BTK	103	141	5.56e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125048

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134509

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140972

Predicted Effect

probably benign
Transcript: ENSMUST00000145294

SMART Domains

Protein: ENSMUSP00000120203
Gene: ENSMUSG00000004952

Domain	Start	End	E-Value	Type
C2	5	68	1.88e-2	SMART
Blast:RasGAP	80	121	7e-20	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152723

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184713

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GAP1 family of GTPase-activating proteins that suppresses the Ras/mitogen-activated protein kinase pathway in response to Ca(2+). Stimuli that increase intracellular Ca(2+) levels result in the translocation of this protein to the plasma membrane, where it activates Ras GTPase activity. Consequently, Ras is converted from the active GTP-bound state to the inactive GDP-bound state and no longer activates downstream pathways that regulate gene expression, cell growth, and differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display an increased sensitivity to bacterial infections which involves reduced phagocyte function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,784,520	D193V	probably damaging	Het
4921517D22Rik	G	T	13: 59,690,810	D69E	possibly damaging	Het
Abat	A	C	16: 8,602,367	M177L	probably benign	Het
Acadvl	A	G	11: 70,014,791		probably null	Het
Adam5	T	C	8: 24,806,438	N331S	probably benign	Het
Ager	A	G	17: 34,600,736	E372G	probably damaging	Het
Angpt1	T	A	15: 42,523,595	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,242,880	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,245,976	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,519,639	Q1131L	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,969,365	M1K	probably null	Het
Ccdc18	G	A	5: 108,173,862		probably null	Het
Ccdc42	T	C	11: 68,594,616	F267S	probably damaging	Het
Cdh23	T	A	10: 60,337,306	Y1700F	probably damaging	Het
Cenpe	A	T	3: 135,235,201	S704C	probably damaging	Het
Cenpe	G	A	3: 135,235,202	S704N	probably benign	Het
Cfap54	A	T	10: 92,875,019	S2727T	unknown	Het
Clu	T	A	14: 65,971,832	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,320,034	I98V	probably benign	Het
Copa	G	T	1: 172,091,000	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,534,683		probably null	Het
Etnk1	T	A	6: 143,203,154		probably null	Het
Fnip1	A	T	11: 54,502,935	K732N	probably damaging	Het
G6pd2	A	G	5: 61,808,891	E3G	probably benign	Het
Gal3st2	A	G	1: 93,873,759	T95A	probably benign	Het
Gapvd1	A	G	2: 34,700,817	S948P	probably damaging	Het
Ggps1	A	T	13: 14,054,165	Y8*	probably null	Het
Gria2	T	C	3: 80,706,972	E587G	probably damaging	Het
Hpse	T	C	5: 100,692,279	E324G	probably benign	Het
Il16	G	A	7: 83,646,388	T493I	probably benign	Het
Ints1	T	C	5: 139,768,462	T652A	possibly damaging	Het
Ism1	A	G	2: 139,757,279	I391V	probably damaging	Het
Katnb1	A	G	8: 95,098,384	D598G	probably damaging	Het
Kif5c	A	G	2: 49,757,429	S880G	probably benign	Het
Klra8	T	C	6: 130,125,184	N96S	probably benign	Het
Krt79	T	A	15: 101,931,441	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,259,112	R92Q	probably benign	Het
Lce1d	C	A	3: 92,686,046	C20F	unknown	Het
Limk1	T	C	5: 134,672,699	T117A	probably benign	Het
Medag	A	T	5: 149,427,243	K61M	probably benign	Het
Mkrn3	T	C	7: 62,419,618	M142V	probably benign	Het
Mob3c	G	A	4: 115,831,582	R104H	probably benign	Het
Morc1	G	T	16: 48,627,070	R903L	possibly damaging	Het
Myh6	T	C	14: 54,952,292	E1099G	probably damaging	Het
Nphp3	T	G	9: 104,016,116	C434G	probably null	Het
Npr3	C	T	15: 11,905,248	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,722,538	Y112*	probably null	Het
Oprl1	A	G	2: 181,718,381	T77A	probably damaging	Het
Osgep	A	G	14: 50,924,708	V24A	probably damaging	Het
Otx2	T	A	14: 48,658,797	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,113,142	L922P	probably benign	Het
Phldb1	A	G	9: 44,694,408	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,359,935		probably null	Het
Psmd3	G	A	11: 98,682,766	D13N	probably benign	Het
Ptprc	G	A	1: 138,064,553	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,062,984	H291L	probably damaging	Het
Rilpl1	T	A	5: 124,503,692		silent	Het
Rin2	A	C	2: 145,883,475	D794A	probably damaging	Het
Ripk1	A	G	13: 34,030,062	I522M	probably damaging	Het
Rnf31	T	C	14: 55,592,551	Y143H	probably benign	Het
Rp1	T	G	1: 4,042,068	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,619,537	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,460,334	V455A	probably damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	T	G	9: 119,485,930	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,436,002	S240*	probably null	Het
Slc22a8	C	T	19: 8,605,417	T154I	probably benign	Het
Slc25a16	T	A	10: 62,937,454	V156E	possibly damaging	Het
Slc28a3	A	T	13: 58,610,804	S2T	probably benign	Het
Srd5a3	G	A	5: 76,149,866	V48I	probably benign	Het
Srebf1	A	C	11: 60,200,526	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,697,191	K1310E	probably benign	Het
Swt1	A	G	1: 151,370,630	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,840,699	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,854,682	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,894,733		probably null	Het
Tmem246	A	T	4: 49,586,325	M281K	probably benign	Het
Trim45	A	G	3: 100,931,879		probably benign	Het
Tsen2	T	A	6: 115,547,972	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,958,073	C715*	probably null	Het
Vmn2r102	G	A	17: 19,694,194	V674I	probably damaging	Het
Zfp87	A	G	13: 67,517,054	S430P	probably damaging	Het

Other mutations in Rasa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Rasa4	APN	5	136101993	missense	possibly damaging	0.95
IGL01364:Rasa4	APN	5	136095571	missense	possibly damaging	0.83
IGL01835:Rasa4	APN	5	136102607	missense	possibly damaging	0.95
IGL02284:Rasa4	APN	5	136101691	critical splice donor site	probably null
IGL02332:Rasa4	APN	5	136095599	missense	probably benign	0.02
IGL03197:Rasa4	APN	5	136102012	missense	probably damaging	1.00
R0729:Rasa4	UTSW	5	136102070	splice site	probably benign
R0782:Rasa4	UTSW	5	136104532	missense	possibly damaging	0.94
R1124:Rasa4	UTSW	5	136105656	missense	probably benign	0.07
R1673:Rasa4	UTSW	5	136104637	missense	probably benign	0.12
R1902:Rasa4	UTSW	5	136091238	missense	probably benign	0.01
R2357:Rasa4	UTSW	5	136091247	missense	probably damaging	1.00
R2427:Rasa4	UTSW	5	136102027	missense	probably benign	0.24
R2880:Rasa4	UTSW	5	136091771	missense	probably damaging	1.00
R3818:Rasa4	UTSW	5	136102293	missense	possibly damaging	0.65
R4647:Rasa4	UTSW	5	136101363	missense	probably damaging	1.00
R4782:Rasa4	UTSW	5	136091229	nonsense	probably null
R4837:Rasa4	UTSW	5	136091810	critical splice donor site	probably null
R4863:Rasa4	UTSW	5	136103911	nonsense	probably null
R5020:Rasa4	UTSW	5	136101299	missense	probably damaging	1.00
R5729:Rasa4	UTSW	5	136093162	missense	probably benign
R6606:Rasa4	UTSW	5	136103947	missense	probably damaging	1.00
R6750:Rasa4	UTSW	5	136100948	missense	probably benign	0.12
R7158:Rasa4	UTSW	5	136102021	missense	probably damaging	0.99
R7358:Rasa4	UTSW	5	136095594	missense	probably benign	0.03
R7914:Rasa4	UTSW	5	136101656	unclassified	probably benign
R8303:Rasa4	UTSW	5	136089381	missense	possibly damaging	0.95
R8906:Rasa4	UTSW	5	136104592	missense	probably benign	0.43
R9138:Rasa4	UTSW	5	136102601	missense	possibly damaging	0.60
R9397:Rasa4	UTSW	5	136100982	missense	possibly damaging	0.68
R9614:Rasa4	UTSW	5	136111489	missense	possibly damaging	0.94
R9652:Rasa4	UTSW	5	136101640	missense	probably damaging	1.00
R9685:Rasa4	UTSW	5	136095529	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AACCCTGGGGAGCTTTAAGTTC -3'
(R):5'- AATTCTAGTGGGCAGGGGAC -3'

Sequencing Primer
(F):5'- CTCTGTGGGTCTGAGCATTCC -3'
(R):5'- GGAGTCTTTAGCCCCTCAGTAAATG -3'

Posted On

2019-05-13