Mutagenetix > Incidental Mutation

Incidental Mutation 'R7218:Asap1'

561617

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

Accession Numbers

Genbank: NM_010026; MGI: 1342335

Is this an essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R7218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64086857-64382919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 64130250 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 404 (T404M)

Ref Sequence

ENSEMBL: ENSMUSP00000135643 (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: T427M

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

SMART Domains

Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: T427M

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: T427M

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

SMART Domains

Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: T427M

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: T412M

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

SMART Domains

Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377
AA Change: T412M

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: T415M

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

SMART Domains

Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377
AA Change: T415M

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: T424M

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

SMART Domains

Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: T424M

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: T424M

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

SMART Domains

Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: T424M

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: T427M

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

SMART Domains

Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: T427M

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: T412M

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

SMART Domains

Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377
AA Change: T412M

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: T392M

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

SMART Domains

Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377
AA Change: T392M

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: T404M

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

SMART Domains

Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377
AA Change: T404M

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

possibly damaging
Transcript: ENSMUST00000177374
AA Change: T427M

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: T427M

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	T	C	17: 45,733,051	T94A	unknown	Het
1700025G04Rik	T	C	1: 151,915,508	R101G	probably damaging	Het
6430548M08Rik	T	A	8: 120,145,583	S83R	probably damaging	Het
9130019O22Rik	A	T	7: 127,384,680	S417T	probably benign	Het
A430089I19Rik	C	A	5: 94,303,254	V338F	probably benign	Het
Actn2	A	G	13: 12,278,913	S574P	probably benign	Het
Ank	A	T	15: 27,544,321	Y56F	probably damaging	Het
Ano7	A	G	1: 93,380,469	D74G	probably benign	Het
Apaf1	T	A	10: 91,037,002	T738S	probably damaging	Het
Apcs	A	T	1: 172,894,664	D38E	possibly damaging	Het
Arntl	A	T	7: 113,287,183	H149L	probably damaging	Het
Atp8a1	T	A	5: 67,702,981	D717V		Het
Baiap2l1	A	G	5: 144,275,877	S443P	probably benign	Het
Brix1	T	C	15: 10,483,292		probably null	Het
C1qtnf6	T	C	15: 78,527,374	E34G	probably benign	Het
Chil3	A	C	3: 106,160,537		probably null	Het
Chmp4c	T	A	3: 10,367,138	L36Q	probably damaging	Het
Chrna2	T	A	14: 66,143,871		probably null	Het
Clec1a	C	T	6: 129,436,955	C57Y	probably damaging	Het
Clec7a	G	T	6: 129,468,922	T95K	probably damaging	Het
Csf1r	C	A	18: 61,130,324	S926R	probably damaging	Het
Dnajc9	A	G	14: 20,388,439	I61T	probably benign	Het
Extl1	T	G	4: 134,359,769	S493R	probably benign	Het
Fance	A	G	17: 28,326,174	D143G	probably benign	Het
Fcho2	C	T	13: 98,753,613		probably null	Het
Filip1	T	C	9: 79,818,074	S1088G	probably benign	Het
Gm10696	A	T	3: 94,175,549	H318Q	possibly damaging	Het
Gnat1	A	C	9: 107,675,985	M319R	possibly damaging	Het
Gpr132	A	T	12: 112,852,429	V259E	probably damaging	Het
Gprc5d	T	A	6: 135,116,454	M152L	probably benign	Het
Hif3a	C	T	7: 17,050,588	R244H	probably damaging	Het
Hivep3	T	C	4: 120,095,452	S322P	possibly damaging	Het
Il33	T	A	19: 29,958,925	F229I	probably damaging	Het
Il4ra	A	G	7: 125,575,778	D386G	probably benign	Het
Ino80	G	T	2: 119,458,127	H33N	probably benign	Het
Ip6k1	A	G	9: 108,045,582	D228G	unknown	Het
Mamdc2	C	T	19: 23,447,610	A40T	probably benign	Het
Meis3	T	C	7: 16,184,701	V357A	probably benign	Het
Mycbp2	T	C	14: 103,133,846	T4199A	probably benign	Het
Myo7b	A	T	18: 31,981,001	M1099K	probably benign	Het
Mzb1	A	T	18: 35,647,922	H104Q	probably benign	Het
Nfatc2	A	G	2: 168,571,264	L167P	probably benign	Het
Numa1	A	T	7: 102,000,910	S1283C	probably benign	Het
Nup98	T	G	7: 102,191,900		probably null	Het
Olfr1342	T	C	4: 118,690,018	I145V	probably benign	Het
Olfr476	T	C	7: 107,967,667	L90P	probably benign	Het
Pkhd1l1	A	G	15: 44,522,695	T1243A	possibly damaging	Het
Ptpro	C	T	6: 137,454,598	R1152W	probably damaging	Het
Ptprt	T	C	2: 161,547,364	T1270A	probably damaging	Het
Pwwp2b	A	C	7: 139,256,133	T497P	probably damaging	Het
Rab44	T	A	17: 29,139,444	V202E		Het
Rbfox1	C	T	16: 7,294,083	T191I	probably damaging	Het
Rufy4	A	G	1: 74,133,015	K299R	probably damaging	Het
Snip1	T	A	4: 125,072,919	S381T	probably damaging	Het
Spen	T	C	4: 141,472,650	I2889V	possibly damaging	Het
St3gal3	T	A	4: 117,957,442	D218V		Het
Sun1	A	G	5: 139,226,687	T70A	unknown	Het
Tbc1d23	C	T	16: 57,170,382	V678M	probably damaging	Het
Tdh	T	A	14: 63,495,757	Y195F	probably damaging	Het
Tescl	C	T	7: 24,333,861	R13H	possibly damaging	Het
Tfap2c	T	A	2: 172,557,357	M508K	probably benign	Het
Trappc4	A	G	9: 44,405,290	M136T	probably benign	Het
Tyk2	A	G	9: 21,105,054	C1207R	probably damaging	Het
Ugt2b36	T	C	5: 87,081,539	Y355C	probably damaging	Het
Vmn1r119	T	A	7: 21,011,647	H270L	probably benign	Het
Vmn2r20	G	A	6: 123,386,115	P570L	probably damaging	Het
Wnk1	A	C	6: 120,002,273	Y284*	probably null	Het
Yars2	C	T	16: 16,303,318	A112V	probably damaging	Het
Zer1	T	C	2: 30,105,012	N470S	probably damaging	Het
Zfp879	A	C	11: 50,832,681	V516G	possibly 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
R6194:Asap1	UTSW	15	64129209	missense	probably damaging	1.00
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
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'- CGACTACACAGAGAAGAGGCTC -3'
(R):5'- TGTGTTCAAACAGCCCTAACC -3'

Sequencing Primer
(F):5'- TCGACAGGCCAGTGTGC -3'
(R):5'- GTGTTCAAACAGCCCTAACCATCTC -3'

Posted On

2019-06-26