Mutagenetix > Incidental Mutation

Incidental Mutation 'R2141:Agap1'

236197

Institutional Source

Beutler Lab

Gene Symbol

Agap1

Ensembl Gene

ENSMUSG00000055013

Gene Name

ArfGAP with GTPase domain, ankyrin repeat and PH domain 1

Synonyms

Ggap1, Centg2

MMRRC Submission

040144-MU

Accession Numbers

Essential gene?

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

Stock #

R2141 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89382533-89823004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89765477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 615 (I615T)

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: I615T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: I615T

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: I428T

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: I428T

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 benign
Transcript: ENSMUST00000190096
AA Change: I562T

PolyPhen 2 Score 0.386 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: I562T

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 benign
Transcript: ENSMUST00000212924

Meta Mutation Damage Score

0.9113

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (107/110)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	G	T	11: 58,314,752 (GRCm39)	C150F	probably damaging	Het
Aagab	T	A	9: 63,523,957 (GRCm39)		probably null	Het
Abca15	A	C	7: 120,006,697 (GRCm39)	T1654P	probably damaging	Het
Abca17	T	A	17: 24,553,240 (GRCm39)	Y157F	probably benign	Het
Aftph	A	T	11: 20,648,318 (GRCm39)	L813*	probably null	Het
Ak3	T	G	19: 29,000,247 (GRCm39)	Q221H	probably benign	Het
Aldoa	A	G	7: 126,396,814 (GRCm39)		probably null	Het
Anxa8	T	C	14: 33,813,873 (GRCm39)		probably null	Het
Atpsckmt	T	C	15: 31,609,718 (GRCm39)	F146L	probably benign	Het
Baz2a	A	G	10: 127,959,481 (GRCm39)	D1329G	probably damaging	Het
Calhm6	G	T	10: 34,003,691 (GRCm39)	A72E	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Cd55	C	T	1: 130,377,160 (GRCm39)	V333I	probably benign	Het
Cep70	A	G	9: 99,178,438 (GRCm39)	Y512C	probably damaging	Het
Cfhr2	T	G	1: 139,758,893 (GRCm39)	R52S	probably benign	Het
Clcn6	A	G	4: 148,108,594 (GRCm39)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 133,956,939 (GRCm39)	Y488H	probably damaging	Het
Diablo	A	G	5: 123,661,424 (GRCm39)	V24A	probably benign	Het
Dnah7b	T	A	1: 46,307,830 (GRCm39)	M3048K	probably damaging	Het
Dsel	T	C	1: 111,787,187 (GRCm39)	N1116S	probably benign	Het
Efnb1	A	G	X: 98,191,123 (GRCm39)	Y343C	probably damaging	Het
Esco1	A	G	18: 10,574,873 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,526,282 (GRCm39)	N335S	probably benign	Het
Flnc	A	G	6: 29,448,674 (GRCm39)	Y1304C	probably damaging	Het
Fubp3	A	G	2: 31,490,569 (GRCm39)		probably benign	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gjc3	A	C	5: 137,955,808 (GRCm39)	L159R	probably damaging	Het
Gli1	A	G	10: 127,172,596 (GRCm39)	L182P	probably damaging	Het
Gm21957	G	T	7: 124,818,625 (GRCm39)		noncoding transcript	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,255,059 (GRCm39)		probably benign	Het
Gm5885	A	G	6: 133,506,238 (GRCm39)		noncoding transcript	Het
Gon4l	A	T	3: 88,794,902 (GRCm39)	T402S	possibly damaging	Het
Gprasp1	G	A	X: 134,702,791 (GRCm39)	E995K	possibly damaging	Het
Gvin-ps5	T	A	7: 105,929,163 (GRCm39)	T245S	probably damaging	Het
Helb	A	T	10: 119,941,926 (GRCm39)	M254K	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,902,590 (GRCm39)		probably benign	Het
Impdh2	A	G	9: 108,442,546 (GRCm39)	E305G	possibly damaging	Het
Ints7	T	A	1: 191,336,972 (GRCm39)	C351S	possibly damaging	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,314,006 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,329,988 (GRCm39)	V484A	probably benign	Het
Kcnq3	T	C	15: 65,867,700 (GRCm39)	M648V	probably benign	Het
Kctd16	A	G	18: 40,392,231 (GRCm39)	E273G	possibly damaging	Het
Kif18a	T	A	2: 109,163,848 (GRCm39)	N732K	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Klhl36	T	C	8: 120,603,511 (GRCm39)	C589R	possibly damaging	Het
Lck	A	G	4: 129,442,713 (GRCm39)	Y481H	probably damaging	Het
Lmtk2	A	G	5: 144,084,433 (GRCm39)	Y156C	probably damaging	Het
Mical3	A	T	6: 121,008,095 (GRCm39)		probably null	Het
Mki67	A	G	7: 135,297,321 (GRCm39)	I2571T	possibly damaging	Het
Mx2	G	A	16: 97,339,903 (GRCm39)	E20K	probably benign	Het
Myo10	A	G	15: 25,714,194 (GRCm39)	E87G	probably benign	Het
Myo18b	T	C	5: 113,021,892 (GRCm39)	K500R	probably benign	Het
N4bp2l2	A	T	5: 150,571,001 (GRCm39)	I458N	probably damaging	Het
Nat10	T	C	2: 103,561,648 (GRCm39)		probably null	Het
Nfasc	G	A	1: 132,524,383 (GRCm39)	P932L	probably damaging	Het
Nipa1	C	A	7: 55,647,259 (GRCm39)		probably null	Het
Nkpd1	A	G	7: 19,258,162 (GRCm39)	Q647R	probably damaging	Het
Nlrc4	T	A	17: 74,754,946 (GRCm39)		probably benign	Het
Nmbr	C	A	10: 14,646,186 (GRCm39)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,156,735 (GRCm39)	D241V	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Optc	A	T	1: 133,831,534 (GRCm39)		probably null	Het
Or4f4b	A	T	2: 111,313,975 (GRCm39)	T95S	probably benign	Het
Or5d43	A	G	2: 88,105,354 (GRCm39)	V13A	probably benign	Het
Or5m13	A	G	2: 85,749,171 (GRCm39)	I301V	probably null	Het
Or6c201	A	G	10: 128,968,875 (GRCm39)	I254T	probably benign	Het
Pank1	G	A	19: 34,856,380 (GRCm39)	R33C	possibly damaging	Het
Pcmtd1	C	T	1: 7,239,789 (GRCm39)	R77C	probably damaging	Het
Phkg2	G	A	7: 127,181,386 (GRCm39)		probably null	Het
Plcb4	G	A	2: 135,818,019 (GRCm39)	V762M	probably damaging	Het
Pramel7	T	A	2: 87,320,321 (GRCm39)	H324L	probably damaging	Het
Prelp	C	T	1: 133,842,869 (GRCm39)	R92K	probably benign	Het
Ptgr3	T	C	18: 84,112,668 (GRCm39)	Y115H	probably benign	Het
Rai1	C	A	11: 60,080,293 (GRCm39)	S1452R	possibly damaging	Het
Ren1	C	G	1: 133,278,516 (GRCm39)		probably null	Het
Rev3l	T	C	10: 39,724,045 (GRCm39)	V785A	probably benign	Het
Ro60	T	C	1: 143,635,772 (GRCm39)	D458G	probably benign	Het
Rufy2	G	T	10: 62,826,773 (GRCm39)	R104L	probably damaging	Het
Senp6	T	A	9: 80,031,102 (GRCm39)	N8K	probably damaging	Het
Septin4	A	T	11: 87,474,262 (GRCm39)	Q60L	probably benign	Het
Sipa1l2	G	A	8: 126,218,230 (GRCm39)	P369L	probably benign	Het
Slc43a1	T	C	2: 84,671,305 (GRCm39)	L37P	probably damaging	Het
Slf1	T	A	13: 77,197,338 (GRCm39)		probably null	Het
Ssr2	T	A	3: 88,483,949 (GRCm39)		probably benign	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,674,479 (GRCm39)		probably benign	Het
Tas2r115	T	C	6: 132,714,321 (GRCm39)	K210R	probably benign	Het
Tbx18	A	G	9: 87,597,706 (GRCm39)	V276A	probably damaging	Het
Tesl1	T	A	X: 23,773,549 (GRCm39)	V350E	probably benign	Het
Tie1	G	A	4: 118,330,008 (GRCm39)	R1072*	probably null	Het
Tm2d2	C	A	8: 25,512,674 (GRCm39)	T174K	probably damaging	Het
Tmem98	A	G	11: 80,705,158 (GRCm39)	D82G	possibly damaging	Het
Tmub2	A	G	11: 102,178,379 (GRCm39)	E94G	possibly damaging	Het
Tnnt2	TG	TGG	1: 135,774,499 (GRCm39)		probably benign	Het
Tonsl	A	T	15: 76,516,861 (GRCm39)	I923N	probably damaging	Het
Ttc21a	G	A	9: 119,793,361 (GRCm39)	V977M	probably damaging	Het
Ube2ql1	T	C	13: 69,886,783 (GRCm39)	D226G	probably damaging	Het
Ubr4	C	T	4: 139,204,518 (GRCm39)	T4810M	probably damaging	Het
Wdr87-ps	T	C	7: 29,230,935 (GRCm39)		noncoding transcript	Het
Zfp408	A	G	2: 91,478,194 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,382,501 (GRCm39)	T610A	possibly damaging	Het
Zfp804b	A	G	5: 6,822,583 (GRCm39)	V160A	probably benign	Het
Zfp960	A	G	17: 17,308,146 (GRCm39)	T287A	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCCTCACAGGAAAGGAG -3'
(R):5'- ACAGAGCAGTCCAGTGTACAAG -3'

Sequencing Primer
(F):5'- CCTCACAGGAAAGGAGTGATTATTTG -3'
(R):5'- GTGTACAAGAAATGGCCCGCTTC -3'

Posted On

2014-10-01