Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:Rasa4'

680106

Institutional Source

Beutler Lab

Gene Symbol

Rasa4

Ensembl Gene

ENSMUSG00000004952

Gene Name

RAS p21 protein activator 4

Synonyms

MMRRC Submission

068699-MU

Accession Numbers

Essential gene?

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

Stock #

R8906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136112770-136140714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 136133446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 635 (I635N)

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: I635N

PolyPhen 2 Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: I635N

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: I589N

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: I589N

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

SMART Domains

Protein: ENSMUSP00000118929
Gene: ENSMUSG00000004952
AA Change: I63N

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

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	C	19: 3,766,686 (GRCm39)	N91T	possibly damaging	Het
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,472,148 (GRCm39)		probably null	Het
4932414N04Rik	A	G	2: 68,562,498 (GRCm39)	D375G	possibly damaging	Het
Adad2	C	A	8: 120,339,725 (GRCm39)	P69Q	probably benign	Het
Adamts3	G	A	5: 89,825,575 (GRCm39)	T1088I	probably damaging	Het
Ank2	A	G	3: 126,726,720 (GRCm39)	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,939,798 (GRCm39)	N475S	probably benign	Het
Barhl2	G	A	5: 106,603,352 (GRCm39)	T269I	probably benign	Het
Boc	G	A	16: 44,323,931 (GRCm39)	R157W		Het
Bsn	G	T	9: 107,984,752 (GRCm39)	P3101T	unknown	Het
Catsperb	C	A	12: 101,486,904 (GRCm39)	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,787,842 (GRCm39)	I220K	probably benign	Het
Cd200r3	A	T	16: 44,778,102 (GRCm39)	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,632,911 (GRCm39)	D37A	probably damaging	Het
Chek2	A	G	5: 111,013,458 (GRCm39)		probably benign	Het
Cngb1	A	T	8: 95,989,736 (GRCm39)	V792D	probably damaging	Het
Cops7a	T	C	6: 124,939,371 (GRCm39)	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,820,995 (GRCm39)	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,869,157 (GRCm39)	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,648,918 (GRCm39)	T115A	possibly damaging	Het
Dnai1	G	A	4: 41,625,125 (GRCm39)	R363H	probably benign	Het
Dnmbp	T	A	19: 43,878,681 (GRCm39)	Q130L	probably benign	Het
Egfr	A	G	11: 16,861,635 (GRCm39)	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,182,678 (GRCm39)	L329Q	probably damaging	Het
Enkur	A	G	2: 21,201,568 (GRCm39)	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615 (GRCm39)	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,144,634 (GRCm39)	I310K	probably damaging	Het
Fga	C	A	3: 82,939,111 (GRCm39)	N495K	probably benign	Het
Galnt6	T	C	15: 100,601,247 (GRCm39)	D344G	probably damaging	Het
Gm572	A	G	4: 148,751,290 (GRCm39)	Q221R	probably benign	Het
Gpa33	G	A	1: 165,974,216 (GRCm39)	A18T	probably benign	Het
Gpatch11	C	T	17: 79,145,289 (GRCm39)	T6I	probably benign	Het
Gpr84	T	A	15: 103,217,625 (GRCm39)	S151C	probably damaging	Het
H2-M11	T	A	17: 36,859,851 (GRCm39)	Y281*	probably null	Het
Hadh	T	C	3: 131,038,891 (GRCm39)	N155S	probably benign	Het
Hoxd13	A	G	2: 74,500,266 (GRCm39)	Y269C		Het
Iars1	T	A	13: 49,882,177 (GRCm39)	C1074S	probably benign	Het
Ibtk	G	T	9: 85,625,457 (GRCm39)	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,233,739 (GRCm39)	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,625,337 (GRCm39)		probably benign	Het
Ipo9	A	C	1: 135,321,951 (GRCm39)	V593G	probably damaging	Het
Irx3	T	C	8: 92,526,915 (GRCm39)	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,927,154 (GRCm39)	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,460,393 (GRCm39)	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,045,219 (GRCm39)	D155G	probably damaging	Het
Mical2	T	A	7: 111,980,671 (GRCm39)	I105N	probably damaging	Het
Mob2	A	T	7: 141,563,261 (GRCm39)	L66Q	probably damaging	Het
Myh1	A	G	11: 67,096,739 (GRCm39)	S337G	probably benign	Het
Neb	T	C	2: 52,096,259 (GRCm39)	D1002G	probably benign	Het
Nebl	A	T	2: 17,382,928 (GRCm39)	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,412,623 (GRCm39)	S264P	probably benign	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,020,556 (GRCm39)	T348A	possibly damaging	Het
Nomo1	A	T	7: 45,722,004 (GRCm39)	I982F	probably benign	Het
Or10j5	A	G	1: 172,784,186 (GRCm39)		probably benign	Het
Or11g24	T	G	14: 50,662,291 (GRCm39)	F105C	probably damaging	Het
Or1j19	A	T	2: 36,676,621 (GRCm39)	Y28F	probably benign	Het
Or8g22	A	G	9: 38,958,077 (GRCm39)	F213L	possibly damaging	Het
Palld	A	G	8: 62,003,198 (GRCm39)		probably null	Het
Pcdh7	A	G	5: 57,879,154 (GRCm39)	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,804,167 (GRCm39)	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,714,451 (GRCm39)	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,821,399 (GRCm39)	R253H	probably damaging	Het
Pramel58	G	T	5: 94,831,413 (GRCm39)	R140L	possibly damaging	Het
Prr18	G	A	17: 8,560,476 (GRCm39)	A211T	probably benign	Het
Ptgs2	A	G	1: 149,979,859 (GRCm39)	I321M		Het
Rara	G	T	11: 98,860,989 (GRCm39)	R159L	probably damaging	Het
Rxfp2	A	T	5: 149,989,888 (GRCm39)	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,059,169 (GRCm39)	I147V	possibly damaging	Het
Scrn3	G	A	2: 73,161,352 (GRCm39)	V313I	probably benign	Het
Scrn3	C	A	2: 73,161,355 (GRCm39)	P314T	possibly damaging	Het
Sh2b1	A	G	7: 126,070,292 (GRCm39)		probably null	Het
Slc26a10	T	C	10: 127,016,459 (GRCm39)	Q3R	probably benign	Het
Slitrk1	A	G	14: 109,149,139 (GRCm39)	I524T	probably damaging	Het
Smcp	T	A	3: 92,491,530 (GRCm39)	N106Y	unknown	Het
Spata31h1	T	C	10: 82,122,379 (GRCm39)	T3544A	probably benign	Het
St8sia5	G	A	18: 77,336,172 (GRCm39)	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,028,526 (GRCm39)	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,397,046 (GRCm39)	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,831,145 (GRCm39)	V320D	probably damaging	Het
Tmem71	T	A	15: 66,404,606 (GRCm39)	I261L	probably benign	Het
Tns2	T	C	15: 102,020,039 (GRCm39)	L643P	probably damaging	Het
Upf1	G	A	8: 70,786,815 (GRCm39)	Q890*	probably null	Het
Usp43	A	T	11: 67,782,307 (GRCm39)	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,507,356 (GRCm39)	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,286,532 (GRCm39)	N343K	probably benign	Het
Vwa8	T	C	14: 79,329,815 (GRCm39)	S1216P	probably benign	Het
Yars1	A	C	4: 129,090,747 (GRCm39)	D97A	probably damaging	Het
Zer1	G	A	2: 30,001,035 (GRCm39)	H129Y	probably benign	Het
Zfat	C	T	15: 67,956,404 (GRCm39)	D1143N	possibly 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
R1673:Rasa4	UTSW	5	136,133,491 (GRCm39)	missense	probably benign	0.12
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
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'- GTTGTTCAGGTCCCTCACTG -3'
(R):5'- TTCTAGGCATGAGACCCCAG -3'

Sequencing Primer
(F):5'- AGGTCCCTCACTGTAAGTCCTAATG -3'
(R):5'- ACAGCCTGCAGTACCTAATCTAG -3'

Posted On

2021-08-31