Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00310:Agap1'

277508

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 #

IGL00310

Quality Score

Status

Chromosome

Chromosomal Location

89382533-89823004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89815392 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 573 (V573G)

Ref Sequence

ENSEMBL: ENSMUSP00000074478 (fasta)

Gene Model

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

AlphaFold

Q8BXK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027521
AA Change: V760G

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

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: V760G

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

probably damaging
Transcript: ENSMUST00000074945
AA Change: V573G

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

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: V573G

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

probably damaging
Transcript: ENSMUST00000190096
AA Change: V707G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: V707G

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: 10 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Dpp6	T	A	5: 27,928,441 (GRCm39)	D786E	probably damaging	Het
Dync2h1	T	C	9: 7,155,072 (GRCm39)		probably benign	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Mettl25	T	C	10: 105,662,295 (GRCm39)	H225R	probably benign	Het
Mocos	C	T	18: 24,793,101 (GRCm39)	T66I	possibly damaging	Het
Ptprk	T	A	10: 28,212,506 (GRCm39)	D221E	possibly damaging	Het
Slc13a3	A	T	2: 165,253,843 (GRCm39)	F437I	probably damaging	Het
Slc7a15	T	C	12: 8,589,121 (GRCm39)	Y142C	probably damaging	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	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
IGL01104:Agap1	APN	1	89,653,797 (GRCm39)	splice site	probably benign
IGL02227:Agap1	APN	1	89,591,497 (GRCm39)	missense	probably damaging	0.99
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