Mutagenetix > Incidental Mutation

Incidental Mutation 'R7158:Rasa4'

557427

Institutional Source

Beutler Lab

Gene Symbol

Rasa4

Ensembl Gene

ENSMUSG00000004952

Gene Name

RAS p21 protein activator 4

Synonyms

MMRRC Submission

045329-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R7158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136112770-136140714 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136130875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 382 (E382G)

Ref Sequence

ENSEMBL: ENSMUSP00000037869 (fasta)

Gene Model

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

AlphaFold

Q6PFQ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000042135
AA Change: E382G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000037869
Gene: ENSMUSG00000004952
AA Change: E382G

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: E382G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098136
Gene: ENSMUSG00000004952
AA Change: E382G

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

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

Meta Mutation Damage Score

0.8892

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (68/68)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,223,982 (GRCm39)	M454L	probably benign	Het
Abca8b	T	A	11: 109,825,415 (GRCm39)	E1595V	probably damaging	Het
Actr5	T	A	2: 158,468,334 (GRCm39)	C155S	possibly damaging	Het
Acvr1b	T	A	15: 101,091,939 (GRCm39)	V73E	probably benign	Het
Add2	T	C	6: 86,062,934 (GRCm39)	Y31H	probably damaging	Het
Akap13	G	T	7: 75,229,342 (GRCm39)	V92F	probably damaging	Het
Alox8	T	A	11: 69,076,696 (GRCm39)	M568L	probably benign	Het
Birc6	A	T	17: 74,901,371 (GRCm39)	E1145V	probably benign	Het
Bltp3a	T	A	17: 28,105,407 (GRCm39)	C644*	probably null	Het
Cacng1	A	T	11: 107,594,665 (GRCm39)	M166K	probably damaging	Het
Ces1f	A	G	8: 93,994,644 (GRCm39)	F256L	probably benign	Het
Clpb	A	G	7: 101,313,039 (GRCm39)	R8G	probably benign	Het
Col6a5	A	G	9: 105,741,407 (GRCm39)	V2504A	possibly damaging	Het
Coq8a	T	C	1: 180,006,749 (GRCm39)	D93G	probably benign	Het
Cry2	A	T	2: 92,244,060 (GRCm39)	I371N	probably damaging	Het
Ddx43	A	C	9: 78,319,501 (GRCm39)	Q276H	probably damaging	Het
Dock10	T	C	1: 80,564,589 (GRCm39)		probably null	Het
Dst	A	G	1: 34,313,366 (GRCm39)	T4378A	probably benign	Het
Fezf1	T	C	6: 23,245,789 (GRCm39)	T459A	probably benign	Het
Gm10097	C	T	10: 5,019,407 (GRCm39)	A72V	unknown	Het
Hydin	A	G	8: 111,336,303 (GRCm39)	S5027G	possibly damaging	Het
Inhbb	A	T	1: 119,348,752 (GRCm39)	L22*	probably null	Het
Kat8	G	A	7: 127,521,331 (GRCm39)	G228S	probably benign	Het
Kif15	T	A	9: 122,828,379 (GRCm39)	S897T	probably benign	Het
Kndc1	A	G	7: 139,511,773 (GRCm39)	Y1460C	possibly damaging	Het
Krt78	T	A	15: 101,860,241 (GRCm39)	D225V	probably benign	Het
Lama3	A	T	18: 12,589,869 (GRCm39)	I800F	probably benign	Het
Mdn1	C	A	4: 32,725,121 (GRCm39)	T2580K	probably benign	Het
Mest	T	C	6: 30,744,913 (GRCm39)	F201S	possibly damaging	Het
Mtmr9	A	G	14: 63,764,318 (GRCm39)	F470L	probably benign	Het
Nfic	C	T	10: 81,256,439 (GRCm39)	R75Q	probably damaging	Het
Nme2	G	A	11: 93,846,484 (GRCm39)		probably benign	Het
Nrg4	A	G	9: 55,149,384 (GRCm39)	L71P	probably damaging	Het
Pacsin2	C	T	15: 83,263,943 (GRCm39)	E365K	possibly damaging	Het
Pappa	T	C	4: 65,123,104 (GRCm39)	I813T	possibly damaging	Het
Pcdhgb4	A	G	18: 37,853,938 (GRCm39)	E111G	probably damaging	Het
Pdzd8	C	T	19: 59,288,589 (GRCm39)	R937H	probably damaging	Het
Per1	T	G	11: 68,994,930 (GRCm39)		probably benign	Het
Pex2	A	G	3: 5,626,396 (GRCm39)	F138L	probably benign	Het
Pold1	A	T	7: 44,188,290 (GRCm39)	N529K	probably damaging	Het
Pou6f2	T	C	13: 18,326,623 (GRCm39)	I316V		Het
Prom1	A	C	5: 44,170,255 (GRCm39)	I682S	probably damaging	Het
Prpf40a	T	C	2: 53,042,565 (GRCm39)	K481E	probably damaging	Het
Prrg4	A	T	2: 104,662,958 (GRCm39)	V216E	probably damaging	Het
Ptch2	C	T	4: 116,971,981 (GRCm39)	P1168S	possibly damaging	Het
Pvr	C	A	7: 19,652,562 (GRCm39)	E118*	probably null	Het
R3hcc1l	C	T	19: 42,571,868 (GRCm39)	P716S	probably damaging	Het
Rbp3	T	A	14: 33,677,513 (GRCm39)	M487K	probably benign	Het
Rsad2	A	T	12: 26,500,779 (GRCm39)		probably null	Het
Shmt1	T	C	11: 60,681,068 (GRCm39)	I353V	probably benign	Het
Shprh	C	T	10: 11,042,474 (GRCm39)	T819I	probably damaging	Het
Skap1	T	A	11: 96,416,883 (GRCm39)	F56Y	possibly damaging	Het
Slc22a16	G	T	10: 40,449,737 (GRCm39)	V79L	possibly damaging	Het
Slc34a1	A	G	13: 55,549,044 (GRCm39)	T165A	probably damaging	Het
Smchd1	A	C	17: 71,707,145 (GRCm39)	I941R	probably damaging	Het
Syne1	C	A	10: 5,007,931 (GRCm39)	V98F	probably damaging	Het
Tcaim	A	G	9: 122,648,055 (GRCm39)	D190G	possibly damaging	Het
Tdrd9	G	C	12: 112,002,800 (GRCm39)	E816D	probably benign	Het
Tmem132d	T	C	5: 128,214,083 (GRCm39)	K326E	possibly damaging	Het
Usp35	T	C	7: 96,975,171 (GRCm39)	M1V	probably null	Het
Wdr62	C	T	7: 29,970,163 (GRCm39)	V215I	possibly damaging	Het
Zan	T	C	5: 137,398,906 (GRCm39)	T4153A	unknown	Het
Zfp239	G	T	6: 117,848,690 (GRCm39)	E143*	probably null	Het
Zfp292	T	C	4: 34,808,679 (GRCm39)	D1460G	probably benign	Het
Zfp647	C	T	15: 76,801,505 (GRCm39)	G90R	probably benign	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
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'- AGACACTTTCATCACCCGTC -3'
(R):5'- GTGAATACTTGGCAGCTGGG -3'

Sequencing Primer
(F):5'- TGCATGTAGGCACACATTCAG -3'
(R):5'- GGGTCCCATCTGACTTTAGATACAG -3'

Posted On

2019-06-26