Mutagenetix > Incidental Mutation

Incidental Mutation 'R4570:Asap3'

342069

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

041794-MU

Accession Numbers

Essential gene?

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

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135933676-135972527 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135967496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 605 (D605G)

Ref Sequence

ENSEMBL: ENSMUSP00000041899 (fasta)

Gene Model

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

AlphaFold

Q5U464

Predicted Effect

probably damaging
Transcript: ENSMUST00000047526
AA Change: D605G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000041899
Gene: ENSMUSG00000036995
AA Change: D605G

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

0.3628

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 79,842,528 (GRCm39)	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,280,206 (GRCm39)	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,756,006 (GRCm39)	S450T	probably benign	Het
Ak2	T	C	4: 128,895,960 (GRCm39)	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,698,458 (GRCm39)	Q643K	probably damaging	Het
Ccr5	C	T	9: 123,924,912 (GRCm39)	Q172*	probably null	Het
Cpxm2	T	C	7: 131,745,435 (GRCm39)	D130G	probably benign	Het
Cspg4b	T	A	13: 113,454,725 (GRCm39)	V257D	probably damaging	Het
Cxcl12	T	C	6: 117,145,633 (GRCm39)	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,100,607 (GRCm39)	P27S	probably benign	Het
Dmxl1	T	C	18: 49,985,427 (GRCm39)	Y225H	probably damaging	Het
Dzip1l	A	T	9: 99,529,221 (GRCm39)	K317*	probably null	Het
Edil3	A	G	13: 89,280,016 (GRCm39)		probably benign	Het
Enpep	A	T	3: 129,075,197 (GRCm39)	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,740,189 (GRCm39)		probably null	Het
Flt1	C	T	5: 147,531,423 (GRCm39)	A847T	probably damaging	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gemin6	C	T	17: 80,535,498 (GRCm39)	R153*	probably null	Het
Gldc	T	A	19: 30,151,839 (GRCm39)	M112L	probably benign	Het
Gm10267	C	T	18: 44,289,492 (GRCm39)	M79I	probably benign	Het
Gm10803	A	G	2: 93,394,597 (GRCm39)	Y123C	unknown	Het
Gm28040	C	A	1: 133,257,119 (GRCm39)		probably benign	Het
Gm8674	T	A	13: 50,056,570 (GRCm39)		noncoding transcript	Het
Gprasp1	C	T	X: 134,703,592 (GRCm39)	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,247,200 (GRCm39)	Y141H	probably damaging	Het
Hmbox1	T	A	14: 65,061,111 (GRCm39)	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,142,628 (GRCm39)	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,208,569 (GRCm39)	H118Q	probably benign	Het
Jhy	A	G	9: 40,822,389 (GRCm39)	I583T	probably benign	Het
Kcna2	A	G	3: 107,012,111 (GRCm39)	I231V	probably benign	Het
Kcnh7	T	C	2: 62,667,439 (GRCm39)	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,847 (GRCm39)	C197*	probably null	Het
Klra2	C	A	6: 131,220,900 (GRCm39)	C54F	probably damaging	Het
Lcn9	T	C	2: 25,713,591 (GRCm39)	L39P	probably benign	Het
Lct	T	C	1: 128,227,641 (GRCm39)	N1284S	probably benign	Het
Map6	T	G	7: 98,985,763 (GRCm39)	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812 (GRCm39)	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,439,388 (GRCm39)	L109P	probably damaging	Het
Mucl3	T	C	17: 35,948,883 (GRCm39)	T239A	possibly damaging	Het
Mybphl	G	A	3: 108,272,347 (GRCm39)	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,367,508 (GRCm39)	K388E	probably damaging	Het
Nvl	A	G	1: 180,971,647 (GRCm39)	V9A	probably benign	Het
Obscn	T	C	11: 58,897,654 (GRCm39)		probably null	Het
Or2h2	T	C	17: 37,396,471 (GRCm39)	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,423,603 (GRCm39)	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Ppara	A	G	15: 85,671,398 (GRCm39)	I100V	probably benign	Het
Rem2	T	C	14: 54,715,116 (GRCm39)	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,546,156 (GRCm39)		noncoding transcript	Het
Scmh1	T	A	4: 120,385,495 (GRCm39)	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,313,902 (GRCm39)	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,313,101 (GRCm39)		probably null	Het
Slc7a4	G	A	16: 17,392,141 (GRCm39)	T431I	probably benign	Het
Snupn	A	G	9: 56,885,346 (GRCm39)	E217G	probably benign	Het
Spopl	T	A	2: 23,427,497 (GRCm39)	K212*	probably null	Het
Strn	T	A	17: 78,984,801 (GRCm39)	T281S	possibly damaging	Het
Supt3	T	A	17: 45,352,116 (GRCm39)	L265*	probably null	Het
Taf5l	G	A	8: 124,724,289 (GRCm39)	T510M	probably damaging	Het
Tapbp	C	A	17: 34,145,427 (GRCm39)	D415E	probably damaging	Het
Tarbp1	A	T	8: 127,178,972 (GRCm39)	D702E	probably benign	Het
Tfap2c	C	A	2: 172,399,247 (GRCm39)	P473Q	probably damaging	Het
Tnc	T	C	4: 63,913,909 (GRCm39)	N1301S	probably damaging	Het
Trim33	A	G	3: 103,237,481 (GRCm39)	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,287,554 (GRCm39)	N335S	probably benign	Het
Uggt1	T	A	1: 36,189,154 (GRCm39)	D1444V	probably damaging	Het
Ugt3a1	T	C	15: 9,338,807 (GRCm39)	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,467,068 (GRCm39)	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,286,354 (GRCm39)	M284K	probably benign	Het
Zfp558	A	T	9: 18,367,799 (GRCm39)	C330S	possibly damaging	Het
Zfp703	T	C	8: 27,468,981 (GRCm39)	V215A	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
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
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'- AAAGACTGCTTGGGCCTTC -3'
(R):5'- AGCTTTGGCATCCAAGTGG -3'

Sequencing Primer
(F):5'- CCTAATGTGAGGGTCTATCCAG -3'
(R):5'- TTGGCATCCAAGTGGCCACTAG -3'

Posted On

2015-09-24