Mutagenetix > Incidental Mutation

Incidental Mutation 'R4879:Asap3'

375116

Institutional Source

Beutler Lab

Gene Symbol

Asap3

Ensembl Gene

ENSMUSG00000036995

Gene Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain 3

Synonyms

Ddefl1, UPLC1, 9430088F20Rik

MMRRC Submission

042488-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R4879 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135933676-135972527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135969975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 778 (D778N)

Ref Sequence

ENSEMBL: ENSMUSP00000041899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047526]

AlphaFold

Q5U464

Predicted Effect

probably benign
Transcript: ENSMUST00000047526
AA Change: D778N

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041899
Gene: ENSMUSG00000036995
AA Change: D778N

Domain	Start	End	E-Value	Type
low complexity region	22	29	N/A	INTRINSIC
Pfam:BAR_3	32	264	5.5e-20	PFAM
PH	303	396	5.61e-17	SMART
ArfGap	425	547	8.33e-31	SMART
ANK	584	616	4.86e1	SMART
ANK	620	649	3.06e-5	SMART
low complexity region	794	806	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

97% (86/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of ADP-ribosylation factor(Arf) GTPase-activating proteins that contain additional ankyrin repeat and pleckstrin homology domains. The Arf GAP domain of this protein catalyzes the hydrolysis of GTP bound to Arf proteins. The encoded protein promotes cell differentiation and migration and has been implicated in cancer cell invasion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,110,526 (GRCm39)	Y541F	probably damaging	Het
Acot12	T	A	13: 91,911,083 (GRCm39)	V136E	probably benign	Het
Aftph	A	G	11: 20,648,311 (GRCm39)		probably null	Het
Ambra1	C	T	2: 91,603,039 (GRCm39)		probably benign	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano9	T	C	7: 140,690,415 (GRCm39)	D73G	probably benign	Het
Atp8a2	G	T	14: 60,245,918 (GRCm39)	Y591*	probably null	Het
Blk	T	C	14: 63,613,414 (GRCm39)	T365A	probably benign	Het
C4b	G	T	17: 34,962,621 (GRCm39)	S27Y	probably damaging	Het
C6	G	T	15: 4,833,129 (GRCm39)		probably null	Het
Ccdc33	T	A	9: 57,974,839 (GRCm39)	I345F	possibly damaging	Het
Cetn3	T	A	13: 81,940,268 (GRCm39)		probably benign	Het
Cntn3	T	A	6: 102,244,389 (GRCm39)	I387L	possibly damaging	Het
Cog8	A	G	8: 107,782,984 (GRCm39)	C102R	probably damaging	Het
Cspg4b	T	C	13: 113,456,321 (GRCm39)	I789T	probably benign	Het
Cyp2c55	CA	C	19: 39,030,522 (GRCm39)		probably null	Het
Defa40	T	A	8: 21,740,380 (GRCm39)	L62Q	probably damaging	Het
Dmxl1	C	T	18: 50,022,534 (GRCm39)	A1624V	probably damaging	Het
Dnah1	T	G	14: 31,022,705 (GRCm39)	E1144A	possibly damaging	Het
Dnah12	T	A	14: 26,439,201 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,367,517 (GRCm39)	T1794I	probably damaging	Het
Entrep1	T	C	19: 23,953,019 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,971,282 (GRCm39)	M778K	probably benign	Het
Fbxw10	G	T	11: 62,738,573 (GRCm39)	A156S	probably damaging	Het
Flnc	T	A	6: 29,460,805 (GRCm39)	F2632Y	probably damaging	Het
Frmd4a	A	G	2: 4,534,628 (GRCm39)	K160E	probably damaging	Het
Glipr1l2	A	G	10: 111,943,029 (GRCm39)	K295E	probably benign	Het
Herc1	T	A	9: 66,370,119 (GRCm39)	C465*	probably null	Het
Hoxb4	A	G	11: 96,211,014 (GRCm39)	I205V	probably damaging	Het
Ikbke	GCC	G	1: 131,203,004 (GRCm39)		probably null	Het
Il36a	A	G	2: 24,106,032 (GRCm39)	N29S	probably benign	Het
Ilk	A	G	7: 105,391,011 (GRCm39)	S292G	probably benign	Het
Itgb5	G	C	16: 33,696,348 (GRCm39)	G180R	probably damaging	Het
Josd1-ps	T	C	7: 27,648,768 (GRCm39)		noncoding transcript	Het
Kcnip4	T	C	5: 48,567,207 (GRCm39)	D120G	possibly damaging	Het
Kin	A	G	2: 10,085,455 (GRCm39)	D5G	probably benign	Het
Lrrtm2	C	A	18: 35,346,372 (GRCm39)	G310V	probably damaging	Het
Med1	T	C	11: 98,046,186 (GRCm39)		probably benign	Het
Mepce	C	A	5: 137,783,544 (GRCm39)		probably benign	Het
Nckipsd	T	A	9: 108,691,114 (GRCm39)		probably benign	Het
Notch3	T	A	17: 32,366,937 (GRCm39)	Q866L	probably benign	Het
Or52b4	A	T	7: 102,183,962 (GRCm39)	T3S	probably benign	Het
Or5l14	A	T	2: 87,793,040 (GRCm39)	H65Q	possibly damaging	Het
Or8k20	A	T	2: 86,106,107 (GRCm39)	C241*	probably null	Het
Orai1	T	C	5: 123,149,894 (GRCm39)		probably benign	Het
Pate12	G	A	9: 36,344,089 (GRCm39)	C24Y	probably damaging	Het
Pcdhb8	A	T	18: 37,489,219 (GRCm39)	E299V	probably damaging	Het
Pcnx4	G	A	12: 72,613,959 (GRCm39)	D635N	probably damaging	Het
Pex5	T	C	6: 124,375,322 (GRCm39)	I567V	probably benign	Het
Ppfibp2	T	C	7: 107,328,390 (GRCm39)	S485P	probably benign	Het
Sbno1	T	C	5: 124,542,087 (GRCm39)	Y356C	probably damaging	Het
Sdcbp	T	C	4: 6,381,056 (GRCm39)	I67T	possibly damaging	Het
Slc5a7	A	G	17: 54,583,679 (GRCm39)	I537T	probably benign	Het
Slc66a1	A	T	4: 139,029,095 (GRCm39)		probably null	Het
Smad4	A	G	18: 73,774,974 (GRCm39)	C442R	probably damaging	Het
Smpd5	A	G	15: 76,179,070 (GRCm39)	H146R	possibly damaging	Het
Snai2	A	G	16: 14,524,605 (GRCm39)	Y37C	probably benign	Het
Snapc4	C	T	2: 26,256,004 (GRCm39)	S840N	possibly damaging	Het
Stpg2	T	C	3: 138,921,134 (GRCm39)	I113T	probably benign	Het
Tbc1d32	T	C	10: 55,925,125 (GRCm39)		probably null	Het
Tfg	A	T	16: 56,521,520 (GRCm39)	S39R	probably damaging	Het
Thsd7b	T	A	1: 130,116,236 (GRCm39)	S1330T	possibly damaging	Het
Tnfaip3	T	C	10: 18,881,321 (GRCm39)	T322A	probably benign	Het
Tpra1	A	G	6: 88,888,691 (GRCm39)	Y291C	probably damaging	Het
Trcg1	A	G	9: 57,154,003 (GRCm39)	D658G	probably damaging	Het
Trip4	C	T	9: 65,782,304 (GRCm39)	V143I	probably benign	Het
Trp53bp1	T	C	2: 121,033,084 (GRCm39)	K1691E	probably damaging	Het
Ttc8	T	A	12: 98,908,562 (GRCm39)	M77K	possibly damaging	Het
Tubb2a	A	T	13: 34,258,572 (GRCm39)	M406K	probably benign	Het
Txnrd1	T	A	10: 82,717,751 (GRCm39)		probably null	Het
Ugt2a3	C	A	5: 87,479,144 (GRCm39)	R268L	probably benign	Het
Usp34	T	G	11: 23,323,410 (GRCm39)	M982R	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,102 (GRCm39)	K370N	probably benign	Het
Vopp1	A	T	6: 57,739,355 (GRCm39)		probably benign	Het
Vps11	A	C	9: 44,264,597 (GRCm39)	C660G	probably benign	Het
Wnk1	T	C	6: 119,926,338 (GRCm39)	H1137R	probably damaging	Het
Wtap	A	G	17: 13,188,322 (GRCm39)	Y193H	probably damaging	Het
Zfp462	T	A	4: 55,009,444 (GRCm39)	V470D	probably benign	Het

Other mutations in Asap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Asap3	APN	4	135,933,879 (GRCm39)	missense	probably damaging	1.00
IGL01865:Asap3	APN	4	135,963,715 (GRCm39)	missense	probably damaging	1.00
IGL02045:Asap3	APN	4	135,954,752 (GRCm39)	missense	probably benign	0.01
IGL02105:Asap3	APN	4	135,955,785 (GRCm39)	critical splice donor site	probably null
IGL02135:Asap3	APN	4	135,968,464 (GRCm39)	critical splice acceptor site	probably null
IGL02484:Asap3	APN	4	135,956,768 (GRCm39)	splice site	probably benign
IGL02524:Asap3	APN	4	135,965,927 (GRCm39)	missense	probably damaging	1.00
IGL02881:Asap3	APN	4	135,966,548 (GRCm39)	missense	probably benign	0.00
R0128:Asap3	UTSW	4	135,961,915 (GRCm39)	missense	probably damaging	0.99
R0883:Asap3	UTSW	4	135,961,636 (GRCm39)	splice site	probably benign
R0903:Asap3	UTSW	4	135,965,687 (GRCm39)	missense	probably benign
R1073:Asap3	UTSW	4	135,963,742 (GRCm39)	missense	probably damaging	1.00
R1498:Asap3	UTSW	4	135,966,505 (GRCm39)	missense	probably benign
R1951:Asap3	UTSW	4	135,954,767 (GRCm39)	nonsense	probably null
R1953:Asap3	UTSW	4	135,954,767 (GRCm39)	nonsense	probably null
R3703:Asap3	UTSW	4	135,968,552 (GRCm39)	small insertion	probably benign
R3704:Asap3	UTSW	4	135,968,552 (GRCm39)	small insertion	probably benign
R3705:Asap3	UTSW	4	135,968,552 (GRCm39)	small insertion	probably benign
R3754:Asap3	UTSW	4	135,956,766 (GRCm39)	splice site	probably null
R3773:Asap3	UTSW	4	135,954,886 (GRCm39)	missense	probably benign	0.22
R3911:Asap3	UTSW	4	135,956,768 (GRCm39)	splice site	probably benign
R4570:Asap3	UTSW	4	135,967,496 (GRCm39)	missense	probably damaging	0.99
R5394:Asap3	UTSW	4	135,968,570 (GRCm39)	missense	probably benign	0.00
R5497:Asap3	UTSW	4	135,966,533 (GRCm39)	missense	probably benign	0.13
R5914:Asap3	UTSW	4	135,968,720 (GRCm39)	missense	probably benign	0.18
R6208:Asap3	UTSW	4	135,968,508 (GRCm39)	missense	probably benign
R6214:Asap3	UTSW	4	135,968,736 (GRCm39)	missense	possibly damaging	0.80
R6495:Asap3	UTSW	4	135,955,790 (GRCm39)	splice site	probably null
R6577:Asap3	UTSW	4	135,965,541 (GRCm39)	splice site	probably null
R6823:Asap3	UTSW	4	135,954,883 (GRCm39)	missense	possibly damaging	0.95
R7067:Asap3	UTSW	4	135,968,673 (GRCm39)	splice site	probably null
R7081:Asap3	UTSW	4	135,968,881 (GRCm39)	critical splice donor site	probably null
R7471:Asap3	UTSW	4	135,960,957 (GRCm39)	missense	possibly damaging	0.71
R8035:Asap3	UTSW	4	135,968,514 (GRCm39)	missense	probably benign	0.09
R8398:Asap3	UTSW	4	135,961,704 (GRCm39)	missense	probably benign
R8695:Asap3	UTSW	4	135,965,722 (GRCm39)	missense	probably benign	0.00
R8921:Asap3	UTSW	4	135,963,726 (GRCm39)	missense	probably benign	0.03
R9021:Asap3	UTSW	4	135,966,299 (GRCm39)	critical splice donor site	probably null
R9790:Asap3	UTSW	4	135,961,914 (GRCm39)	missense	probably damaging	0.99
R9791:Asap3	UTSW	4	135,961,914 (GRCm39)	missense	probably damaging	0.99
Z1176:Asap3	UTSW	4	135,968,814 (GRCm39)	missense	probably damaging	1.00
Z1176:Asap3	UTSW	4	135,967,512 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAGCTTTGACAGTGAGCAAAGAG -3'
(R):5'- AGAGGTAGTTCCAGATGCCAG -3'

Sequencing Primer
(F):5'- TGCATGTACACCTGCACG -3'
(R):5'- TAGTTCCAGATGCCAGGCCAG -3'

Posted On

2016-03-17