Mutagenetix > Incidental Mutation

Incidental Mutation 'R1673:Rasa4'

187798

Institutional Source

Beutler Lab

Gene Symbol

Rasa4

Ensembl Gene

ENSMUSG00000004952

Gene Name

RAS p21 protein activator 4

Synonyms

MMRRC Submission

039709-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1673 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

136112770-136140714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136133491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 650 (V650D)

Ref Sequence

ENSEMBL: ENSMUSP00000037869 (fasta)

Gene Model

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

AlphaFold

Q6PFQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000042135
AA Change: V650D

PolyPhen 2 Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: V650D

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 benign
Transcript: ENSMUST00000100570
AA Change: V604D

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: V604D

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

unknown
Transcript: ENSMUST00000122887
AA Change: V78D

SMART Domains

Protein: ENSMUSP00000118929
Gene: ENSMUSG00000004952
AA Change: V78D

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: ENSMUST00000184713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152723

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,165 (GRCm39)	S809G	probably benign	Het
Ap4b1	T	A	3: 103,725,161 (GRCm39)		probably null	Het
Aqp12	A	G	1: 92,934,606 (GRCm39)	Q161R	possibly damaging	Het
Atp8a2	A	G	14: 60,028,689 (GRCm39)	I926T	probably benign	Het
Cacna2d1	A	T	5: 16,504,988 (GRCm39)	N314I	probably damaging	Het
Cd209d	A	G	8: 3,927,113 (GRCm39)	S81P	probably damaging	Het
Cdcp1	T	A	9: 123,007,086 (GRCm39)	K554*	probably null	Het
Celsr1	A	G	15: 85,816,658 (GRCm39)	Y1762H	probably benign	Het
Cklf	A	G	8: 104,983,983 (GRCm39)	T49A	possibly damaging	Het
Col12a1	T	G	9: 79,600,820 (GRCm39)	I755L	probably benign	Het
Cts3	G	A	13: 61,715,368 (GRCm39)	Q140*	probably null	Het
Ddx1	A	T	12: 13,294,967 (GRCm39)		probably null	Het
Dnah3	C	A	7: 119,570,402 (GRCm39)	E2262*	probably null	Het
Dnah5	A	G	15: 28,290,294 (GRCm39)	N1228S	probably benign	Het
Dsg1a	G	A	18: 20,464,561 (GRCm39)	R352Q	probably damaging	Het
Efcab5	A	G	11: 77,042,679 (GRCm39)	F25L	probably damaging	Het
Efhd1	T	A	1: 87,192,404 (GRCm39)	V78D	probably damaging	Het
Eif5a2	T	C	3: 28,847,967 (GRCm39)		probably null	Het
Elp2	T	A	18: 24,744,983 (GRCm39)	V101D	possibly damaging	Het
Enpp2	A	T	15: 54,773,592 (GRCm39)		probably null	Het
F5	A	G	1: 164,007,089 (GRCm39)	T298A	probably damaging	Het
Fbxo21	G	T	5: 118,146,129 (GRCm39)	R584L	probably benign	Het
Fbxw22	G	T	9: 109,211,196 (GRCm39)	F368L	possibly damaging	Het
Gcn1	T	C	5: 115,720,356 (GRCm39)	I409T	probably benign	Het
Gm12887	T	C	4: 121,473,655 (GRCm39)	Y65C	probably damaging	Het
Gria4	G	A	9: 4,537,637 (GRCm39)	Q224*	probably null	Het
Hdac5	C	T	11: 102,089,631 (GRCm39)	V860M	probably damaging	Het
Ino80	G	A	2: 119,212,417 (GRCm39)	R1302C	probably damaging	Het
Kcns2	A	T	15: 34,838,966 (GRCm39)	I110F	probably damaging	Het
Lrig3	A	G	10: 125,846,036 (GRCm39)	T822A	probably damaging	Het
Mapk6	T	C	9: 75,302,851 (GRCm39)	D214G	probably damaging	Het
Mcm2	A	T	6: 88,869,060 (GRCm39)	L264Q	probably benign	Het
Mpnd	A	T	17: 56,317,455 (GRCm39)	Y64F	probably damaging	Het
Muc1	T	A	3: 89,139,079 (GRCm39)	M520K	possibly damaging	Het
Muc4	T	A	16: 32,577,276 (GRCm39)	S189T	probably benign	Het
Myh13	T	C	11: 67,242,945 (GRCm39)	S953P	possibly damaging	Het
Ncf2	A	T	1: 152,706,230 (GRCm39)	M281L	probably benign	Het
Nipal2	A	G	15: 34,648,841 (GRCm39)	I116T	probably damaging	Het
Nptn	T	C	9: 58,531,015 (GRCm39)	L46P	probably benign	Het
Or2b6	A	T	13: 21,823,214 (GRCm39)	S160T	probably damaging	Het
Or4k77	A	G	2: 111,199,552 (GRCm39)	T192A	probably benign	Het
Or51ag1	C	A	7: 103,155,896 (GRCm39)	V86F	probably damaging	Het
Or5ae1	T	A	7: 84,565,325 (GRCm39)	F113I	probably damaging	Het
Pgr	A	T	9: 8,902,069 (GRCm39)	Y534F	possibly damaging	Het
Pip4k2a	A	T	2: 18,877,093 (GRCm39)		probably null	Het
Pkd1l2	C	G	8: 117,767,514 (GRCm39)	V1259L	probably benign	Het
Ppp1r12a	A	G	10: 108,085,426 (GRCm39)	E457G	probably damaging	Het
Rem2	C	T	14: 54,713,766 (GRCm39)		probably benign	Het
Rps18-ps6	A	T	13: 97,896,868 (GRCm39)	Y77N	possibly damaging	Het
Sdc1	G	A	12: 8,840,409 (GRCm39)	R62Q	possibly damaging	Het
Sdk1	A	G	5: 141,934,261 (GRCm39)	E366G	possibly damaging	Het
Setd2	T	A	9: 110,433,248 (GRCm39)	H2406Q	probably damaging	Het
Slc30a5	A	G	13: 100,949,891 (GRCm39)	V397A	probably benign	Het
Slc36a2	A	T	11: 55,075,739 (GRCm39)	L16H	possibly damaging	Het
Slc44a1	T	C	4: 53,542,468 (GRCm39)	V334A	probably benign	Het
Sox8	A	T	17: 25,786,456 (GRCm39)	Y416N	possibly damaging	Het
Speg	T	C	1: 75,387,807 (GRCm39)	V1416A	possibly damaging	Het
Stimate	T	C	14: 30,586,391 (GRCm39)	L72S	possibly damaging	Het
Stk24	T	A	14: 121,574,983 (GRCm39)	I42F	probably damaging	Het
Tasor2	A	G	13: 3,634,498 (GRCm39)		probably null	Het
Tcerg1	T	A	18: 42,685,646 (GRCm39)	L661Q	possibly damaging	Het
Tpp1	G	A	7: 105,396,880 (GRCm39)	R417W	probably damaging	Het
Trim12a	T	A	7: 103,955,264 (GRCm39)	D153V	possibly damaging	Het
Trpm2	T	C	10: 77,778,778 (GRCm39)	N396S	probably benign	Het
Ttn	T	C	2: 76,637,427 (GRCm39)	K5695R	probably damaging	Het
Ttn	G	A	2: 76,640,631 (GRCm39)	R11960C	probably damaging	Het
Tulp3	A	C	6: 128,310,906 (GRCm39)		probably null	Het
Uaca	T	A	9: 60,779,438 (GRCm39)	L1273H	probably damaging	Het
Usp33	A	G	3: 152,073,919 (GRCm39)	E255G	probably damaging	Het
Vmn2r54	T	G	7: 12,350,138 (GRCm39)		probably null	Het
Vwa8	C	T	14: 79,145,670 (GRCm39)	R116C	probably damaging	Het
Wnt5b	A	T	6: 119,423,315 (GRCm39)	F116L	probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	Het
Zbtb12	TCATC	TCATCCATC	17: 35,115,286 (GRCm39)		probably null	Het
Zfp408	G	A	2: 91,476,353 (GRCm39)	T367I	probably damaging	Het
Zfp512b	G	A	2: 181,230,286 (GRCm39)	A480V	possibly damaging	Het
Zfp560	T	C	9: 20,258,949 (GRCm39)	T638A	probably benign	Het
Zfp932	G	T	5: 110,156,854 (GRCm39)	G151V	probably damaging	Het
Zpbp	T	C	11: 11,302,696 (GRCm39)	K320E	probably damaging	Het
Zranb2	C	T	3: 157,243,277 (GRCm39)	P91L	probably damaging	Het

Other mutations in Rasa4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:Rasa4	APN	5	136,130,847 (GRCm39)	missense	possibly damaging	0.95
IGL01364:Rasa4	APN	5	136,124,425 (GRCm39)	missense	possibly damaging	0.83
IGL01835:Rasa4	APN	5	136,131,461 (GRCm39)	missense	possibly damaging	0.95
IGL02284:Rasa4	APN	5	136,130,545 (GRCm39)	critical splice donor site	probably null
IGL02332:Rasa4	APN	5	136,124,453 (GRCm39)	missense	probably benign	0.02
IGL03197:Rasa4	APN	5	136,130,866 (GRCm39)	missense	probably damaging	1.00
R0729:Rasa4	UTSW	5	136,130,924 (GRCm39)	splice site	probably benign
R0782:Rasa4	UTSW	5	136,133,386 (GRCm39)	missense	possibly damaging	0.94
R1124:Rasa4	UTSW	5	136,134,510 (GRCm39)	missense	probably benign	0.07
R1902:Rasa4	UTSW	5	136,120,092 (GRCm39)	missense	probably benign	0.01
R2357:Rasa4	UTSW	5	136,120,101 (GRCm39)	missense	probably damaging	1.00
R2427:Rasa4	UTSW	5	136,130,881 (GRCm39)	missense	probably benign	0.24
R2880:Rasa4	UTSW	5	136,120,625 (GRCm39)	missense	probably damaging	1.00
R3818:Rasa4	UTSW	5	136,131,147 (GRCm39)	missense	possibly damaging	0.65
R4647:Rasa4	UTSW	5	136,130,217 (GRCm39)	missense	probably damaging	1.00
R4782:Rasa4	UTSW	5	136,120,083 (GRCm39)	nonsense	probably null
R4837:Rasa4	UTSW	5	136,120,664 (GRCm39)	critical splice donor site	probably null
R4863:Rasa4	UTSW	5	136,132,765 (GRCm39)	nonsense	probably null
R5020:Rasa4	UTSW	5	136,130,153 (GRCm39)	missense	probably damaging	1.00
R5729:Rasa4	UTSW	5	136,122,016 (GRCm39)	missense	probably benign
R6606:Rasa4	UTSW	5	136,132,801 (GRCm39)	missense	probably damaging	1.00
R6750:Rasa4	UTSW	5	136,129,802 (GRCm39)	missense	probably benign	0.12
R7009:Rasa4	UTSW	5	136,130,217 (GRCm39)	missense	probably damaging	1.00
R7158:Rasa4	UTSW	5	136,130,875 (GRCm39)	missense	probably damaging	0.99
R7358:Rasa4	UTSW	5	136,124,448 (GRCm39)	missense	probably benign	0.03
R7914:Rasa4	UTSW	5	136,130,510 (GRCm39)	unclassified	probably benign
R8303:Rasa4	UTSW	5	136,118,235 (GRCm39)	missense	possibly damaging	0.95
R8906:Rasa4	UTSW	5	136,133,446 (GRCm39)	missense	probably benign	0.43
R9138:Rasa4	UTSW	5	136,131,455 (GRCm39)	missense	possibly damaging	0.60
R9397:Rasa4	UTSW	5	136,129,836 (GRCm39)	missense	possibly damaging	0.68
R9614:Rasa4	UTSW	5	136,140,343 (GRCm39)	missense	possibly damaging	0.94
R9652:Rasa4	UTSW	5	136,130,494 (GRCm39)	missense	probably damaging	1.00
R9685:Rasa4	UTSW	5	136,124,383 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGACTCTGGCTGAGATCCCTTCAC -3'
(R):5'- TTTCTAGGCATGAGACCCCAGGAC -3'

Sequencing Primer
(F):5'- ACTGTAAGTCCTAATGCCACCTG -3'
(R):5'- ACACAGCCTGCAGTACCTAA -3'

Posted On

2014-05-09