Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02227:Agap1'

285617

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Agap1

Ensembl Gene

ENSMUSG00000055013

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Synonyms

Ggap1, Centg2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

IGL02227

Quality Score

Status

Chromosome

Chromosomal Location

89382533-89823004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89591497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 263 (V263A)

Ref Sequence

ENSEMBL: ENSMUSP00000027521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096]

AlphaFold

Q8BXK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027521
AA Change: V263A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: V263A

Domain	Start	End	E-Value	Type
Pfam:Ras	73	231	1.1e-18	PFAM
low complexity region	269	289	N/A	INTRINSIC
PH	347	590	1.36e-15	SMART
ArfGap	609	729	4.58e-51	SMART
ANK	768	797	1.83e-3	SMART
ANK	801	832	1.33e2	SMART
low complexity region	840	852	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074945
AA Change: V129A

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: V129A

Domain	Start	End	E-Value	Type
Pfam:Miro	73	181	5e-24	PFAM
Pfam:Ras	73	231	3e-19	PFAM
low complexity region	269	289	N/A	INTRINSIC
PH	347	537	7.93e-17	SMART
ArfGap	556	676	4.58e-51	SMART
ANK	715	744	1.83e-3	SMART
ANK	748	779	1.33e2	SMART
low complexity region	787	799	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186098

Predicted Effect

probably benign
Transcript: ENSMUST00000190096
AA Change: V263A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: V263A

Domain	Start	End	E-Value	Type
Pfam:Miro	73	181	5e-24	PFAM
Pfam:Ras	73	231	3e-19	PFAM
low complexity region	269	289	N/A	INTRINSIC
PH	347	537	7.93e-17	SMART
ArfGap	556	676	4.58e-51	SMART
ANK	715	744	1.83e-3	SMART
ANK	748	779	1.33e2	SMART
low complexity region	787	799	N/A	INTRINSIC

Coding Region Coverage

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 an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	A	G	8: 46,987,402 (GRCm39)	E662G	probably benign	Het
Acss3	A	G	10: 106,881,196 (GRCm39)	S262P	probably benign	Het
Ap3b2	A	G	7: 81,123,152 (GRCm39)	L454P	probably damaging	Het
Arrdc1	A	T	2: 24,816,164 (GRCm39)	F280I	possibly damaging	Het
Atp8b1	G	T	18: 64,695,261 (GRCm39)	H485N	probably benign	Het
Atrip	A	G	9: 108,890,732 (GRCm39)	S91P	possibly damaging	Het
Bcorl1	T	C	X: 47,458,237 (GRCm39)	V590A	probably benign	Het
Brf1	C	A	12: 112,925,394 (GRCm39)	R590S	probably damaging	Het
Ccdc18	A	T	5: 108,296,788 (GRCm39)	D197V	possibly damaging	Het
Ccr6	T	C	17: 8,475,284 (GRCm39)	V163A	probably damaging	Het
Cct6b	T	C	11: 82,632,217 (GRCm39)	E257G	probably damaging	Het
Cdc42bpa	A	G	1: 179,921,989 (GRCm39)	D564G	possibly damaging	Het
Cdh2	C	T	18: 16,762,643 (GRCm39)	V434I	probably benign	Het
Cfap410	A	G	10: 77,818,784 (GRCm39)	N152D	possibly damaging	Het
Cltc	C	T	11: 86,588,166 (GRCm39)	V1610M	possibly damaging	Het
Cnot4	A	G	6: 35,028,198 (GRCm39)	F473L	probably benign	Het
Dock3	T	C	9: 106,939,254 (GRCm39)	K165E	probably damaging	Het
Duox2	A	T	2: 122,115,634 (GRCm39)		probably benign	Het
Epha7	A	G	4: 28,821,587 (GRCm39)	S251G	possibly damaging	Het
Epn1	T	A	7: 5,098,035 (GRCm39)	V282E	probably benign	Het
Fat1	T	C	8: 45,476,696 (GRCm39)	L1914P	probably damaging	Het
Fbln2	T	C	6: 91,233,349 (GRCm39)	I611T	possibly damaging	Het
Fgd6	G	T	10: 93,969,946 (GRCm39)	M1198I	probably damaging	Het
Frmpd4	T	A	X: 166,275,931 (GRCm39)	I379F	probably damaging	Het
Grk4	T	A	5: 34,852,126 (GRCm39)	D123E	probably benign	Het
Hc	T	G	2: 34,899,923 (GRCm39)		probably benign	Het
Hephl1	T	C	9: 14,981,089 (GRCm39)	Y781C	probably damaging	Het
Hfe	T	C	13: 23,890,926 (GRCm39)	E71G	probably benign	Het
Hk1	A	G	10: 62,116,919 (GRCm39)		probably benign	Het
Ifnk	G	A	4: 35,152,642 (GRCm39)		probably benign	Het
Kcnv1	C	A	15: 44,977,670 (GRCm39)	G123C	probably damaging	Het
Klhl38	A	T	15: 58,186,633 (GRCm39)	I32N	possibly damaging	Het
Lpl	T	C	8: 69,348,452 (GRCm39)	V227A	probably damaging	Het
Lurap1l	A	T	4: 80,872,094 (GRCm39)	S196C	probably damaging	Het
Mta1	T	C	12: 113,084,528 (GRCm39)	L91P	possibly damaging	Het
Nelfe	C	A	17: 35,073,330 (GRCm39)	D288E	probably benign	Het
Or5p1	T	A	7: 107,916,408 (GRCm39)	C102*	probably null	Het
Otof	T	C	5: 30,528,128 (GRCm39)	E1905G	probably damaging	Het
Pck2	T	C	14: 55,781,323 (GRCm39)	I148T	probably benign	Het
Plcl2	G	T	17: 50,913,425 (GRCm39)	V145F	probably damaging	Het
Plec	A	G	15: 76,056,474 (GRCm39)	S4510P	probably damaging	Het
Plxna2	A	G	1: 194,434,397 (GRCm39)	E641G	probably damaging	Het
Poglut3	T	C	9: 53,299,779 (GRCm39)	L96S	probably damaging	Het
Ppp1r12a	C	T	10: 108,105,185 (GRCm39)	T434M	probably damaging	Het
Ppp6r3	A	T	19: 3,568,245 (GRCm39)	N184K	possibly damaging	Het
Prkar1a	G	A	11: 109,551,001 (GRCm39)		probably benign	Het
Psmb1	A	T	17: 15,710,546 (GRCm39)	M1K	probably null	Het
Pwwp2a	T	C	11: 43,596,448 (GRCm39)	S538P	possibly damaging	Het
Rbm25	C	T	12: 83,719,527 (GRCm39)	R516W	probably damaging	Het
Rnf103	A	G	6: 71,487,172 (GRCm39)	D601G	probably benign	Het
Senp3	A	G	11: 69,565,356 (GRCm39)	V467A	possibly damaging	Het
Slc8a3	T	G	12: 81,362,457 (GRCm39)	T121P	probably damaging	Het
Slco1a8	A	T	6: 141,939,401 (GRCm39)	C197*	probably null	Het
Srrt	G	A	5: 137,294,536 (GRCm39)	T790M	probably damaging	Het
Ssc5d	T	C	7: 4,936,453 (GRCm39)		probably null	Het
Tas2r129	G	A	6: 132,928,357 (GRCm39)	W98*	probably null	Het
Thoc5	A	C	11: 4,876,217 (GRCm39)	M609L	probably benign	Het
Tnip1	G	A	11: 54,827,297 (GRCm39)	T155M	possibly damaging	Het
Ttn	A	G	2: 76,618,672 (GRCm39)	V14458A	probably benign	Het
Unc5cl	A	G	17: 48,766,809 (GRCm39)	E61G	probably benign	Het
Usp32	T	C	11: 84,877,307 (GRCm39)	K151E	probably damaging	Het
Vmn2r121	T	C	X: 123,042,378 (GRCm39)	M260V	probably benign	Het
Vwa7	G	T	17: 35,239,060 (GRCm39)	R345L	probably damaging	Het
Zfp366	G	T	13: 99,370,696 (GRCm39)	R472L	possibly damaging	Het
Zfp811	A	T	17: 33,017,616 (GRCm39)	Y141*	probably null	Het
Zpbp	C	T	11: 11,365,248 (GRCm39)	E200K	probably benign	Het

Other mutations in Agap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Agap1	APN	1	89,591,518 (GRCm39)	splice site	probably benign
IGL00310:Agap1	APN	1	89,815,392 (GRCm39)	missense	probably damaging	1.00
IGL01104:Agap1	APN	1	89,653,797 (GRCm39)	splice site	probably benign
IGL02959:Agap1	APN	1	89,770,913 (GRCm39)	missense	possibly damaging	0.94
IGL03303:Agap1	APN	1	89,592,874 (GRCm39)	missense	probably damaging	1.00
K3955:Agap1	UTSW	1	89,815,326 (GRCm39)	missense	probably damaging	1.00
R0030:Agap1	UTSW	1	89,816,466 (GRCm39)	nonsense	probably null
R0234:Agap1	UTSW	1	89,598,934 (GRCm39)	missense	probably damaging	1.00
R0234:Agap1	UTSW	1	89,598,934 (GRCm39)	missense	probably damaging	1.00
R0400:Agap1	UTSW	1	89,770,972 (GRCm39)	splice site	probably benign
R1104:Agap1	UTSW	1	89,716,962 (GRCm39)	missense	probably damaging	0.99
R1160:Agap1	UTSW	1	89,770,876 (GRCm39)	missense	probably damaging	0.98
R1439:Agap1	UTSW	1	89,770,908 (GRCm39)	missense	probably damaging	1.00
R1454:Agap1	UTSW	1	89,765,528 (GRCm39)	splice site	probably null
R1644:Agap1	UTSW	1	89,591,452 (GRCm39)	missense	probably damaging	0.97
R1984:Agap1	UTSW	1	89,694,045 (GRCm39)	missense	probably benign
R2141:Agap1	UTSW	1	89,765,477 (GRCm39)	missense	probably damaging	0.99
R3966:Agap1	UTSW	1	89,762,183 (GRCm39)	missense	probably damaging	0.99
R4195:Agap1	UTSW	1	89,762,261 (GRCm39)	missense	probably damaging	0.99
R4669:Agap1	UTSW	1	89,765,528 (GRCm39)	splice site	probably null
R4951:Agap1	UTSW	1	89,537,225 (GRCm39)	missense	probably damaging	1.00
R5525:Agap1	UTSW	1	89,671,495 (GRCm39)	missense	possibly damaging	0.86
R5843:Agap1	UTSW	1	89,537,272 (GRCm39)	missense	probably damaging	0.97
R5930:Agap1	UTSW	1	89,770,818 (GRCm39)	missense	probably damaging	1.00
R6030:Agap1	UTSW	1	89,558,156 (GRCm39)	missense	probably damaging	1.00
R6030:Agap1	UTSW	1	89,558,156 (GRCm39)	missense	probably damaging	1.00
R6879:Agap1	UTSW	1	89,694,177 (GRCm39)	missense	probably benign	0.25
R7027:Agap1	UTSW	1	89,816,444 (GRCm39)	missense	probably benign	0.00
R7207:Agap1	UTSW	1	89,770,821 (GRCm39)	missense	possibly damaging	0.91
R7268:Agap1	UTSW	1	89,694,070 (GRCm39)	missense	probably benign	0.02
R7289:Agap1	UTSW	1	89,383,153 (GRCm39)	start codon destroyed	probably null	0.01
R7689:Agap1	UTSW	1	89,762,188 (GRCm39)	missense	probably damaging	1.00
R7690:Agap1	UTSW	1	89,770,793 (GRCm39)	missense	probably benign	0.43
R7801:Agap1	UTSW	1	89,558,207 (GRCm39)	missense	probably damaging	1.00
R7849:Agap1	UTSW	1	89,558,141 (GRCm39)	missense	probably damaging	0.99
R8364:Agap1	UTSW	1	89,815,396 (GRCm39)	missense	probably damaging	1.00
R8491:Agap1	UTSW	1	89,537,294 (GRCm39)	missense	probably damaging	1.00
R9016:Agap1	UTSW	1	89,694,188 (GRCm39)	critical splice donor site	probably null
R9040:Agap1	UTSW	1	89,671,466 (GRCm39)	missense	probably damaging	0.98
R9254:Agap1	UTSW	1	89,653,741 (GRCm39)	missense	probably damaging	1.00
R9477:Agap1	UTSW	1	89,765,485 (GRCm39)	missense	probably benign
RF015:Agap1	UTSW	1	89,561,985 (GRCm39)	nonsense	probably null

Posted On

2015-04-16