Mutagenetix > Incidental Mutations

Incidental Mutation 'R6194:Asap1'

502806

Institutional Source

Beutler Lab

Gene Symbol

Asap1

Ensembl Gene

ENSMUSG00000022377

Gene Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain1

Synonyms

Ddef1, mKIAA1249

MMRRC Submission

044334-MU

Accession Numbers

Genbank: NM_010026; MGI: 1342335

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R6194 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64086857-64382919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64129209 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 508 (S508P)

Ref Sequence

ENSEMBL: ENSMUSP00000134825 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023008] [ENSMUST00000110114] [ENSMUST00000110115] [ENSMUST00000175793] [ENSMUST00000175799] [ENSMUST00000176014] [ENSMUST00000176384] [ENSMUST00000177035] [ENSMUST00000177083] [ENSMUST00000177371] [ENSMUST00000177374]

AlphaFold

Q9QWY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000023008
AA Change: S508P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: S508P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	340	433	4.12e-15	SMART
ArfGap	454	577	2.18e-34	SMART
ANK	615	647	1.17e-1	SMART
ANK	651	680	3.46e-4	SMART
low complexity region	727	738	N/A	INTRINSIC
low complexity region	792	803	N/A	INTRINSIC
low complexity region	814	847	N/A	INTRINSIC
low complexity region	856	865	N/A	INTRINSIC
low complexity region	892	903	N/A	INTRINSIC
low complexity region	971	984	N/A	INTRINSIC
low complexity region	1065	1077	N/A	INTRINSIC
SH3	1088	1146	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110114
AA Change: S508P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: S508P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	340	433	4.12e-15	SMART
ArfGap	454	577	2.18e-34	SMART
ANK	615	647	1.17e-1	SMART
ANK	651	680	3.46e-4	SMART
low complexity region	727	738	N/A	INTRINSIC
low complexity region	792	803	N/A	INTRINSIC
low complexity region	835	846	N/A	INTRINSIC
low complexity region	914	927	N/A	INTRINSIC
low complexity region	1008	1020	N/A	INTRINSIC
SH3	1031	1089	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110115
AA Change: S493P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377
AA Change: S493P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	325	418	4.12e-15	SMART
ArfGap	439	562	2.18e-34	SMART
ANK	600	632	1.17e-1	SMART
ANK	636	665	3.46e-4	SMART
low complexity region	712	723	N/A	INTRINSIC
low complexity region	777	788	N/A	INTRINSIC
low complexity region	799	832	N/A	INTRINSIC
low complexity region	841	850	N/A	INTRINSIC
low complexity region	877	888	N/A	INTRINSIC
low complexity region	956	969	N/A	INTRINSIC
low complexity region	1050	1062	N/A	INTRINSIC
SH3	1073	1131	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000175793
AA Change: S496P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377
AA Change: S496P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	328	421	4.12e-15	SMART
ArfGap	442	565	2.18e-34	SMART
ANK	603	635	1.17e-1	SMART
ANK	639	668	3.46e-4	SMART
low complexity region	715	726	N/A	INTRINSIC
low complexity region	780	791	N/A	INTRINSIC
low complexity region	802	835	N/A	INTRINSIC
low complexity region	844	853	N/A	INTRINSIC
low complexity region	880	891	N/A	INTRINSIC
low complexity region	959	972	N/A	INTRINSIC
low complexity region	1053	1065	N/A	INTRINSIC
SH3	1076	1134	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000175799
AA Change: S505P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: S505P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	337	430	4.12e-15	SMART
ArfGap	451	574	2.18e-34	SMART
ANK	612	644	1.17e-1	SMART
ANK	648	677	3.46e-4	SMART
low complexity region	724	735	N/A	INTRINSIC
low complexity region	789	800	N/A	INTRINSIC
low complexity region	832	843	N/A	INTRINSIC
low complexity region	911	924	N/A	INTRINSIC
low complexity region	1005	1017	N/A	INTRINSIC
SH3	1028	1086	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176014
AA Change: S505P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: S505P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	337	430	4.12e-15	SMART
ArfGap	451	574	2.18e-34	SMART
ANK	612	644	1.17e-1	SMART
ANK	648	677	3.46e-4	SMART
low complexity region	724	735	N/A	INTRINSIC
low complexity region	789	800	N/A	INTRINSIC
low complexity region	811	844	N/A	INTRINSIC
low complexity region	853	862	N/A	INTRINSIC
low complexity region	889	900	N/A	INTRINSIC
low complexity region	968	981	N/A	INTRINSIC
low complexity region	1062	1074	N/A	INTRINSIC
SH3	1085	1143	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176384
AA Change: S508P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: S508P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
low complexity region	310	328	N/A	INTRINSIC
PH	340	433	4.12e-15	SMART
ArfGap	454	577	2.18e-34	SMART
ANK	615	647	1.17e-1	SMART
ANK	651	680	3.46e-4	SMART
low complexity region	727	738	N/A	INTRINSIC
low complexity region	792	803	N/A	INTRINSIC
low complexity region	835	846	N/A	INTRINSIC
low complexity region	914	927	N/A	INTRINSIC
low complexity region	1008	1020	N/A	INTRINSIC
SH3	1031	1089	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177035
AA Change: S493P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377
AA Change: S493P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	147	164	N/A	INTRINSIC
PH	325	418	4.12e-15	SMART
ArfGap	439	562	2.18e-34	SMART
ANK	600	632	1.17e-1	SMART
ANK	636	665	3.46e-4	SMART
low complexity region	712	723	N/A	INTRINSIC
low complexity region	777	788	N/A	INTRINSIC
low complexity region	820	831	N/A	INTRINSIC
low complexity region	899	912	N/A	INTRINSIC
low complexity region	993	1005	N/A	INTRINSIC
SH3	1016	1074	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177083
AA Change: S473P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377
AA Change: S473P

Domain	Start	End	E-Value	Type
low complexity region	102	116	N/A	INTRINSIC
low complexity region	127	144	N/A	INTRINSIC
PH	305	398	4.12e-15	SMART
ArfGap	419	542	2.18e-34	SMART
ANK	580	612	1.17e-1	SMART
ANK	616	645	3.46e-4	SMART
low complexity region	692	703	N/A	INTRINSIC
low complexity region	757	768	N/A	INTRINSIC
low complexity region	779	812	N/A	INTRINSIC
low complexity region	821	830	N/A	INTRINSIC
low complexity region	857	868	N/A	INTRINSIC
low complexity region	936	949	N/A	INTRINSIC
low complexity region	1030	1042	N/A	INTRINSIC
SH3	1053	1111	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177371
AA Change: S485P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377
AA Change: S485P

Domain	Start	End	E-Value	Type
low complexity region	102	116	N/A	INTRINSIC
low complexity region	127	144	N/A	INTRINSIC
PH	317	410	4.12e-15	SMART
ArfGap	431	554	2.18e-34	SMART
ANK	592	624	1.17e-1	SMART
ANK	628	657	3.46e-4	SMART
low complexity region	704	715	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
low complexity region	791	824	N/A	INTRINSIC
low complexity region	833	842	N/A	INTRINSIC
low complexity region	869	880	N/A	INTRINSIC
low complexity region	948	961	N/A	INTRINSIC
low complexity region	1042	1054	N/A	INTRINSIC
SH3	1065	1123	3.29e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177374
AA Change: S508P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: S508P

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
Pfam:BAR	18	267	1.8e-11	PFAM
Pfam:BAR_3	52	286	1.2e-29	PFAM
low complexity region	310	328	N/A	INTRINSIC
PH	340	433	4.12e-15	SMART
ArfGap	454	577	2.18e-34	SMART
ANK	615	647	1.17e-1	SMART
ANK	651	680	3.46e-4	SMART
low complexity region	727	738	N/A	INTRINSIC
low complexity region	792	803	N/A	INTRINSIC
low complexity region	814	847	N/A	INTRINSIC
low complexity region	856	865	N/A	INTRINSIC
low complexity region	892	903	N/A	INTRINSIC
low complexity region	971	984	N/A	INTRINSIC
low complexity region	1065	1077	N/A	INTRINSIC
SH3	1088	1146	3.29e-17	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

All alleles(13) : Gene trapped(13)

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,104,035	I90V	probably benign	Het
5330417C22Rik	T	C	3: 108,465,779	I600V	probably benign	Het
Afap1l2	T	A	19: 56,922,951	R370S	probably damaging	Het
Alcam	A	G	16: 52,268,398	Y537H	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Atg5	T	C	10: 44,294,616	L86P	probably damaging	Het
Atp13a5	G	A	16: 29,308,239	P502S	probably damaging	Het
AW209491	T	A	13: 14,637,120	I186K	possibly damaging	Het
Baz1b	T	C	5: 135,243,890	Y1354H	probably damaging	Het
Card6	A	T	15: 5,098,444	S1157T	unknown	Het
Chil6	A	G	3: 106,404,876		probably null	Het
Chrna1	A	G	2: 73,570,472	V238A	probably benign	Het
Cluap1	A	G	16: 3,929,906	S308G	probably benign	Het
Cntnap4	A	G	8: 112,875,429	D1155G	probably damaging	Het
Cptp	A	G	4: 155,866,641	F123L	probably damaging	Het
Fbxw2	G	A	2: 34,807,404	T317I	probably damaging	Het
Gc	A	T	5: 89,441,579	V197E	probably benign	Het
Gusb	C	T	5: 129,990,065	V577M	possibly damaging	Het
Hectd1	A	T	12: 51,748,445	N2400K	probably damaging	Het
Hnrnph1	T	A	11: 50,383,277	D340E	possibly damaging	Het
Hs3st1	C	A	5: 39,614,405	K298N	probably damaging	Het
Hunk	A	T	16: 90,496,395	T522S	probably damaging	Het
Ifit3	T	C	19: 34,587,627	F191S	probably benign	Het
Ifnab	T	A	4: 88,691,125	K35*	probably null	Het
Ifnab	G	T	4: 88,691,126	N34K	probably damaging	Het
Ighmbp2	C	A	19: 3,262,003	R917L	possibly damaging	Het
Igkv13-84	C	T	6: 68,939,932	A71V	possibly damaging	Het
Lim2	T	A	7: 43,435,662	C159S	probably damaging	Het
Lrrc56	T	C	7: 141,205,651	Y147H	probably damaging	Het
Ltn1	A	G	16: 87,415,810	L621P	probably damaging	Het
Mapk8ip1	C	A	2: 92,389,244	G81C	probably damaging	Het
Mboat2	T	A	12: 24,946,638	S213R	probably benign	Het
Mmel1	T	A	4: 154,883,216	C99*	probably null	Het
Mrvi1	T	C	7: 110,899,694	N377D	probably damaging	Het
Myo9a	A	G	9: 59,869,750	I1144V	probably benign	Het
Naa15	A	G	3: 51,463,300	T612A	probably benign	Het
Naalad2	C	T	9: 18,351,147	V362I	probably benign	Het
Nbeal1	A	T	1: 60,257,484	I1178F	possibly damaging	Het
Nras	C	A	3: 103,058,953	A11E	probably damaging	Het
Olfr275	T	A	4: 52,825,779	C127*	probably null	Het
Olfr681	G	T	7: 105,122,170	V238L	probably benign	Het
Pcdhb7	A	G	18: 37,342,146	T112A	probably damaging	Het
Peg10	C	CCCATCAGGA	6: 4,756,351		probably benign	Het
Pfkfb2	A	G	1: 130,697,887	*519Q	probably null	Het
Prodh	A	T	16: 18,072,517	H515Q	probably benign	Het
Rbfox2	T	C	15: 77,084,157	T435A	possibly damaging	Het
Rbks	T	C	5: 31,666,890	E87G	probably benign	Het
Scyl1	G	T	19: 5,770,306	Q167K	possibly damaging	Het
Serpina3i	T	A	12: 104,266,503	D222E	probably benign	Het
Slc36a4	T	A	9: 15,726,876	C199*	probably null	Het
Slx1b	C	T	7: 126,692,331	R187H	possibly damaging	Het
Stxbp5	A	G	10: 9,817,339	F348L	probably damaging	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tfpt	A	T	7: 3,629,027	L28Q	probably damaging	Het
Trap1	G	A	16: 4,054,800	T335M	possibly damaging	Het
Zcchc2	T	A	1: 105,991,117	F110I	probably damaging	Het
Zfp345	A	T	2: 150,472,631	C329S	probably damaging	Het

Other mutations in Asap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Asap1	APN	15	64119954	splice site	probably benign
IGL00473:Asap1	APN	15	64173215	splice site	probably benign
IGL00519:Asap1	APN	15	64110942	missense	probably damaging	1.00
IGL01304:Asap1	APN	15	64312449	missense	probably damaging	1.00
IGL01510:Asap1	APN	15	64158928	missense	probably damaging	1.00
IGL02208:Asap1	APN	15	64122033	missense	probably damaging	1.00
IGL02338:Asap1	APN	15	64123670	critical splice donor site	probably null
IGL02429:Asap1	APN	15	64167740	missense	probably damaging	1.00
IGL02565:Asap1	APN	15	64129165	splice site	probably benign
IGL02644:Asap1	APN	15	64111062	missense	probably damaging	1.00
IGL02684:Asap1	APN	15	64094169	missense	probably benign
IGL02707:Asap1	APN	15	64129274	missense	probably damaging	1.00
IGL03052:Asap1	APN	15	64153834	splice site	probably benign
IGL03153:Asap1	APN	15	64160274	missense	probably damaging	1.00
A4554:Asap1	UTSW	15	64124711	splice site	probably benign
PIT4378001:Asap1	UTSW	15	64135848	missense	probably damaging	0.99
R0081:Asap1	UTSW	15	64099564	missense	probably damaging	1.00
R0555:Asap1	UTSW	15	64094364	missense	probably damaging	1.00
R1414:Asap1	UTSW	15	64158884	missense	possibly damaging	0.92
R1437:Asap1	UTSW	15	64120107	missense	probably damaging	0.96
R1474:Asap1	UTSW	15	64120020	missense	probably benign	0.01
R1489:Asap1	UTSW	15	64172730	missense	probably damaging	1.00
R1553:Asap1	UTSW	15	64152852	missense	probably benign	0.31
R1603:Asap1	UTSW	15	64129257	missense	probably damaging	1.00
R1636:Asap1	UTSW	15	64123912	missense	probably damaging	1.00
R1645:Asap1	UTSW	15	64089475	missense	probably damaging	0.99
R1861:Asap1	UTSW	15	64135798	splice site	probably benign
R2136:Asap1	UTSW	15	64110959	missense	probably damaging	1.00
R2351:Asap1	UTSW	15	64135804	critical splice donor site	probably null
R4436:Asap1	UTSW	15	64349843	missense	probably benign	0.03
R4618:Asap1	UTSW	15	64152895	missense	probably damaging	1.00
R4868:Asap1	UTSW	15	64094181	missense	probably benign
R5077:Asap1	UTSW	15	64127423	missense	probably damaging	1.00
R5333:Asap1	UTSW	15	64127414	missense	possibly damaging	0.79
R5391:Asap1	UTSW	15	64094052	missense	possibly damaging	0.57
R5493:Asap1	UTSW	15	64130151	missense	possibly damaging	0.85
R5665:Asap1	UTSW	15	64312453	missense	probably damaging	1.00
R5756:Asap1	UTSW	15	64167707	missense	probably damaging	1.00
R5790:Asap1	UTSW	15	64094265	missense	probably damaging	1.00
R6139:Asap1	UTSW	15	64166539	missense	possibly damaging	0.87
R6361:Asap1	UTSW	15	64349823	splice site	probably null
R6751:Asap1	UTSW	15	64094412	missense	possibly damaging	0.86
R7143:Asap1	UTSW	15	64191528	missense	probably damaging	1.00
R7218:Asap1	UTSW	15	64130250	missense	probably damaging	1.00
R7225:Asap1	UTSW	15	64130250	missense	probably damaging	1.00
R7305:Asap1	UTSW	15	64130250	missense	probably damaging	1.00
R7310:Asap1	UTSW	15	64099530	critical splice donor site	probably null
R7439:Asap1	UTSW	15	64130256	missense	probably damaging	1.00
R7441:Asap1	UTSW	15	64130256	missense	probably damaging	1.00
R7488:Asap1	UTSW	15	64120125	missense	probably benign	0.29
R7597:Asap1	UTSW	15	64312455	missense	probably benign	0.37
R7708:Asap1	UTSW	15	64152872	missense	probably damaging	1.00
R7871:Asap1	UTSW	15	64092076	missense	probably damaging	1.00
R7990:Asap1	UTSW	15	64172737	splice site	probably null
R8163:Asap1	UTSW	15	64092050	missense	probably damaging	1.00
R8171:Asap1	UTSW	15	64110966	missense	probably damaging	1.00
R8416:Asap1	UTSW	15	64130223	missense	possibly damaging	0.83
R8778:Asap1	UTSW	15	64127409	missense	probably benign	0.02
R9462:Asap1	UTSW	15	64166479	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GTCTACCTGTTCAGGCAAATCC -3'
(R):5'- GTGGTAAAGGGATCCTAGCC -3'

Sequencing Primer
(F):5'- GTTCAGGCAAATCCGTTAAAATTTAC -3'
(R):5'- CCCTAGAACTGATTGTTAGCAAGG -3'

Posted On

2018-02-27