Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Asap3'

734598

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

135933676-135972527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 135961914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 285 (N285I)

Ref Sequence

ENSEMBL: ENSMUSP00000041899 (fasta)

Gene Model

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

AlphaFold

Q5U464

Predicted Effect

probably damaging
Transcript: ENSMUST00000047526
AA Change: N285I

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

SMART Domains

Protein: ENSMUSP00000041899
Gene: ENSMUSG00000036995
AA Change: N285I

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

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 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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Agpat2	A	G	2: 26,486,395 (GRCm39)	Y134H	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Cacnb1	T	C	11: 97,900,186 (GRCm39)	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,483,957 (GRCm39)		probably null	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hormad1	T	C	3: 95,494,693 (GRCm39)	V368A	probably benign	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Prr14	T	C	7: 127,071,128 (GRCm39)	M1T	probably null	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
Ptpn22	A	T	3: 103,795,842 (GRCm39)	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	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
R4879:Asap3	UTSW	4	135,969,975 (GRCm39)	missense	probably benign	0.04
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
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'- CTAAAAGAGATGTCTGACCCATCC -3'
(R):5'- TTAGTAGTGACACGCCCAGG -3'

Sequencing Primer
(F):5'- ATGTCTGACCCATCCGCCAC -3'
(R):5'- TTGTGCAAAATGGTCCACAG -3'

Posted On

2022-11-14