Mutagenetix > Incidental Mutation

Incidental Mutation 'R1414:Asap1'

159753

Institutional Source

Beutler Lab

Gene Symbol

Asap1

Ensembl Gene

ENSMUSG00000022377

Gene Name

ArfGAP with SH3 domain, ankyrin repeat and PH domain1

Synonyms

Ddef1

MMRRC Submission

039470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

R1414 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63958706-64254768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64030733 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 315 (S315C)

Ref Sequence

ENSEMBL: ENSMUSP00000023008 (fasta)

Gene Model

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

AlphaFold

Q9QWY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023008
AA Change: S315C

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023008
Gene: ENSMUSG00000022377
AA Change: S315C

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

possibly damaging
Transcript: ENSMUST00000110114
AA Change: S315C

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105741
Gene: ENSMUSG00000022377
AA Change: S315C

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 benign
Transcript: ENSMUST00000110115

SMART Domains

Protein: ENSMUSP00000105742
Gene: ENSMUSG00000022377

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 benign
Transcript: ENSMUST00000175793

SMART Domains

Protein: ENSMUSP00000135718
Gene: ENSMUSG00000022377

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 benign
Transcript: ENSMUST00000175799
AA Change: S315C

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135359
Gene: ENSMUSG00000022377
AA Change: S315C

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 benign
Transcript: ENSMUST00000176014
AA Change: S315C

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135172
Gene: ENSMUSG00000022377
AA Change: S315C

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 benign
Transcript: ENSMUST00000176358

Predicted Effect

probably benign
Transcript: ENSMUST00000177374
AA Change: S315C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000134825
Gene: ENSMUSG00000022377
AA Change: S315C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000177371
AA Change: S295C

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135643
Gene: ENSMUSG00000022377
AA Change: S295C

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 benign
Transcript: ENSMUST00000176384
AA Change: S315C

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000135190
Gene: ENSMUSG00000022377
AA Change: S315C

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 benign
Transcript: ENSMUST00000177083

SMART Domains

Protein: ENSMUSP00000134877
Gene: ENSMUSG00000022377

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 benign
Transcript: ENSMUST00000177035

SMART Domains

Protein: ENSMUSP00000135346
Gene: ENSMUSG00000022377

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 91.2%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdc27	A	G	11: 104,412,251 (GRCm39)	V452A	probably benign	Het
Cndp1	G	A	18: 84,652,777 (GRCm39)		probably benign	Het
Dnajc10	C	A	2: 80,178,021 (GRCm39)	T676K	probably damaging	Het
Efhc1	C	T	1: 21,031,513 (GRCm39)	T237I	probably damaging	Het
Fn1	A	G	1: 71,640,462 (GRCm39)		probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Hfm1	T	C	5: 107,020,219 (GRCm39)	D1069G	probably benign	Het
Hspa9	T	C	18: 35,071,644 (GRCm39)	Y652C	probably damaging	Het
Lrfn2	A	G	17: 49,377,857 (GRCm39)	I313V	probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mxra8	A	G	4: 155,925,464 (GRCm39)	M58V	probably damaging	Het
Myh3	A	G	11: 66,989,491 (GRCm39)	E1537G	probably damaging	Het
Nlrp3	A	G	11: 59,440,357 (GRCm39)	M645V	probably benign	Het
Nlrp4d	T	A	7: 10,116,528 (GRCm39)	I118F	probably benign	Het
Oas1f	A	G	5: 120,989,522 (GRCm39)		probably benign	Het
Pkp1	A	G	1: 135,811,823 (GRCm39)		probably benign	Het
Plcb3	T	C	19: 6,940,385 (GRCm39)	Y428C	probably damaging	Het
Pomt1	C	A	2: 32,133,622 (GRCm39)		probably benign	Het
Prex1	G	A	2: 166,435,781 (GRCm39)	R589C	probably damaging	Het
Prr5	C	T	15: 84,583,912 (GRCm39)	Q171*	probably null	Het
Ptar1	T	A	19: 23,697,655 (GRCm39)	L389Q	possibly damaging	Het
Rufy2	T	A	10: 62,837,978 (GRCm39)	L375*	probably null	Het
Slc22a1	G	A	17: 12,881,487 (GRCm39)	S334L	probably damaging	Het
Slc34a1	T	C	13: 55,548,524 (GRCm39)	S45P	probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Tafa4	A	G	6: 96,991,440 (GRCm39)	V3A	probably benign	Het
Tnc	A	G	4: 63,883,932 (GRCm39)		probably benign	Het
Tpm3-rs7	T	C	14: 113,552,274 (GRCm39)	I56T	possibly damaging	Het
Zbtb11	T	A	16: 55,810,923 (GRCm39)	C360*	probably null	Het
Zfp263	T	C	16: 3,567,160 (GRCm39)	C204R	probably damaging	Het

Other mutations in Asap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Asap1	APN	15	63,991,803 (GRCm39)	splice site	probably benign
IGL00473:Asap1	APN	15	64,045,064 (GRCm39)	splice site	probably benign
IGL00519:Asap1	APN	15	63,982,791 (GRCm39)	missense	probably damaging	1.00
IGL01304:Asap1	APN	15	64,184,298 (GRCm39)	missense	probably damaging	1.00
IGL01510:Asap1	APN	15	64,030,777 (GRCm39)	missense	probably damaging	1.00
IGL02208:Asap1	APN	15	63,993,882 (GRCm39)	missense	probably damaging	1.00
IGL02338:Asap1	APN	15	63,995,519 (GRCm39)	critical splice donor site	probably null
IGL02429:Asap1	APN	15	64,039,589 (GRCm39)	missense	probably damaging	1.00
IGL02565:Asap1	APN	15	64,001,014 (GRCm39)	splice site	probably benign
IGL02644:Asap1	APN	15	63,982,911 (GRCm39)	missense	probably damaging	1.00
IGL02684:Asap1	APN	15	63,966,018 (GRCm39)	missense	probably benign
IGL02707:Asap1	APN	15	64,001,123 (GRCm39)	missense	probably damaging	1.00
IGL03052:Asap1	APN	15	64,025,683 (GRCm39)	splice site	probably benign
IGL03153:Asap1	APN	15	64,032,123 (GRCm39)	missense	probably damaging	1.00
A4554:Asap1	UTSW	15	63,996,560 (GRCm39)	splice site	probably benign
PIT4378001:Asap1	UTSW	15	64,007,697 (GRCm39)	missense	probably damaging	0.99
R0081:Asap1	UTSW	15	63,971,413 (GRCm39)	missense	probably damaging	1.00
R0555:Asap1	UTSW	15	63,966,213 (GRCm39)	missense	probably damaging	1.00
R1437:Asap1	UTSW	15	63,991,956 (GRCm39)	missense	probably damaging	0.96
R1474:Asap1	UTSW	15	63,991,869 (GRCm39)	missense	probably benign	0.01
R1489:Asap1	UTSW	15	64,044,579 (GRCm39)	missense	probably damaging	1.00
R1553:Asap1	UTSW	15	64,024,701 (GRCm39)	missense	probably benign	0.31
R1603:Asap1	UTSW	15	64,001,106 (GRCm39)	missense	probably damaging	1.00
R1636:Asap1	UTSW	15	63,995,761 (GRCm39)	missense	probably damaging	1.00
R1645:Asap1	UTSW	15	63,961,324 (GRCm39)	missense	probably damaging	0.99
R1861:Asap1	UTSW	15	64,007,647 (GRCm39)	splice site	probably benign
R2136:Asap1	UTSW	15	63,982,808 (GRCm39)	missense	probably damaging	1.00
R2351:Asap1	UTSW	15	64,007,653 (GRCm39)	critical splice donor site	probably null
R4436:Asap1	UTSW	15	64,221,692 (GRCm39)	missense	probably benign	0.03
R4618:Asap1	UTSW	15	64,024,744 (GRCm39)	missense	probably damaging	1.00
R4868:Asap1	UTSW	15	63,966,030 (GRCm39)	missense	probably benign
R5077:Asap1	UTSW	15	63,999,272 (GRCm39)	missense	probably damaging	1.00
R5333:Asap1	UTSW	15	63,999,263 (GRCm39)	missense	possibly damaging	0.79
R5391:Asap1	UTSW	15	63,965,901 (GRCm39)	missense	possibly damaging	0.57
R5493:Asap1	UTSW	15	64,002,000 (GRCm39)	missense	possibly damaging	0.85
R5665:Asap1	UTSW	15	64,184,302 (GRCm39)	missense	probably damaging	1.00
R5756:Asap1	UTSW	15	64,039,556 (GRCm39)	missense	probably damaging	1.00
R5790:Asap1	UTSW	15	63,966,114 (GRCm39)	missense	probably damaging	1.00
R6139:Asap1	UTSW	15	64,038,388 (GRCm39)	missense	possibly damaging	0.87
R6194:Asap1	UTSW	15	64,001,058 (GRCm39)	missense	probably damaging	1.00
R6361:Asap1	UTSW	15	64,221,672 (GRCm39)	splice site	probably null
R6751:Asap1	UTSW	15	63,966,261 (GRCm39)	missense	possibly damaging	0.86
R7143:Asap1	UTSW	15	64,063,377 (GRCm39)	missense	probably damaging	1.00
R7218:Asap1	UTSW	15	64,002,099 (GRCm39)	missense	probably damaging	1.00
R7225:Asap1	UTSW	15	64,002,099 (GRCm39)	missense	probably damaging	1.00
R7305:Asap1	UTSW	15	64,002,099 (GRCm39)	missense	probably damaging	1.00
R7310:Asap1	UTSW	15	63,971,379 (GRCm39)	critical splice donor site	probably null
R7439:Asap1	UTSW	15	64,002,105 (GRCm39)	missense	probably damaging	1.00
R7441:Asap1	UTSW	15	64,002,105 (GRCm39)	missense	probably damaging	1.00
R7488:Asap1	UTSW	15	63,991,974 (GRCm39)	missense	probably benign	0.29
R7597:Asap1	UTSW	15	64,184,304 (GRCm39)	missense	probably benign	0.37
R7708:Asap1	UTSW	15	64,024,721 (GRCm39)	missense	probably damaging	1.00
R7871:Asap1	UTSW	15	63,963,925 (GRCm39)	missense	probably damaging	1.00
R7990:Asap1	UTSW	15	64,044,586 (GRCm39)	splice site	probably null
R8163:Asap1	UTSW	15	63,963,899 (GRCm39)	missense	probably damaging	1.00
R8171:Asap1	UTSW	15	63,982,815 (GRCm39)	missense	probably damaging	1.00
R8416:Asap1	UTSW	15	64,002,072 (GRCm39)	missense	possibly damaging	0.83
R8778:Asap1	UTSW	15	63,999,258 (GRCm39)	missense	probably benign	0.02
R9462:Asap1	UTSW	15	64,038,328 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGAATAGTTTCTATGCTGGGCATCAC -3'
(R):5'- AGCAACAGAAATCCCGGTCCTTG -3'

Sequencing Primer
(F):5'- ATCACTGTGGACACGTACTTC -3'
(R):5'- GGGTCACCACGTATTGTTTAAC -3'

Posted On

2014-03-14