Mutagenetix > Incidental Mutation

Incidental Mutation 'R4951:Agap1'

381949

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

042548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R4951 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

89382533-89823004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89537225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 77 (V77E)

Ref Sequence

ENSEMBL: ENSMUSP00000140599 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027521] [ENSMUST00000074945] [ENSMUST00000190096] [ENSMUST00000212721]

AlphaFold

Q8BXK8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027521
AA Change: V77E

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

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: V77E

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 benign
Transcript: ENSMUST00000074945

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013

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: V77E

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

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: V77E

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: ENSMUST00000212721
AA Change: V3E

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.9370

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (94/96)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	G	A	11: 7,088,336 (GRCm39)	E452K	possibly damaging	Het
Adcy10	T	C	1: 165,391,532 (GRCm39)	L1263P	probably damaging	Het
Adgrg1	G	A	8: 95,731,874 (GRCm39)	V179M	probably damaging	Het
Ahnak	A	T	19: 8,995,199 (GRCm39)	K5494N	probably damaging	Het
Arhgap19	A	G	19: 41,762,545 (GRCm39)	M437T	probably benign	Het
C2cd4c	C	A	10: 79,448,839 (GRCm39)	A103S	possibly damaging	Het
Clip1	A	T	5: 123,768,408 (GRCm39)	D776E	probably benign	Het
Cntn3	C	T	6: 102,145,986 (GRCm39)	V952M	possibly damaging	Het
Col6a6	A	G	9: 105,644,397 (GRCm39)		probably null	Het
Crtac1	C	T	19: 42,402,570 (GRCm39)	A13T	probably benign	Het
Ddx50	C	T	10: 62,469,899 (GRCm39)	A363T	probably damaging	Het
Dock9	A	G	14: 121,890,547 (GRCm39)	V241A	probably benign	Het
Dysf	T	C	6: 84,091,102 (GRCm39)		probably null	Het
Enpp3	A	T	10: 24,674,175 (GRCm39)	M375K	probably damaging	Het
Fam13c	G	A	10: 70,387,621 (GRCm39)		probably null	Het
Ftcd	C	T	10: 76,420,517 (GRCm39)	A417V	probably benign	Het
Gak	A	G	5: 108,730,584 (GRCm39)	S941P	probably benign	Het
Ganc	A	G	2: 120,286,528 (GRCm39)	T786A	probably benign	Het
Gfi1	A	C	5: 107,868,009 (GRCm39)	S420A	probably damaging	Het
Ghsr	A	T	3: 27,426,510 (GRCm39)	T189S	possibly damaging	Het
Glb1l	C	T	1: 75,185,019 (GRCm39)	G122D	probably damaging	Het
Gm10065	C	T	13: 21,663,421 (GRCm39)	S64N	unknown	Het
Gm5087	C	A	14: 13,158,749 (GRCm38)		noncoding transcript	Het
Gm973	G	A	1: 59,580,633 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,449 (GRCm39)		noncoding transcript	Het
H6pd	A	T	4: 150,066,044 (GRCm39)	Y781N	probably damaging	Het
Ide	G	A	19: 37,262,631 (GRCm39)	L695F	unknown	Het
Il17re	T	A	6: 113,445,868 (GRCm39)	V393E	probably damaging	Het
Lipo3	A	G	19: 33,759,621 (GRCm39)	V205A	probably benign	Het
Lipo5	C	T	19: 33,446,251 (GRCm39)	E49K	probably damaging	Het
Lonp1	A	T	17: 56,927,335 (GRCm39)	M306K	possibly damaging	Het
Lrig1	A	G	6: 94,640,959 (GRCm39)	L82P	probably damaging	Het
Lrp2	A	T	2: 69,366,332 (GRCm39)	C256S	probably damaging	Het
Map1b	A	T	13: 99,568,935 (GRCm39)	I1262K	unknown	Het
Mctp1	C	T	13: 76,975,894 (GRCm39)	P756S	probably damaging	Het
Mdn1	T	A	4: 32,707,459 (GRCm39)	W1583R	probably damaging	Het
Mis12	T	A	11: 70,916,473 (GRCm39)	Y169N	probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Msh5	G	A	17: 35,257,396 (GRCm39)	Q333*	probably null	Het
Necap2	A	T	4: 140,799,834 (GRCm39)		probably null	Het
Nfatc2	T	C	2: 168,412,992 (GRCm39)	D211G	probably damaging	Het
Nlrx1	A	G	9: 44,164,726 (GRCm39)	V906A	possibly damaging	Het
Or2ak7	G	A	11: 58,575,589 (GRCm39)	V297I	probably damaging	Het
Or4a2	T	A	2: 89,248,116 (GRCm39)	I214F	probably benign	Het
Or4l1	A	T	14: 50,166,515 (GRCm39)	L162*	probably null	Het
Or5b125-ps1	A	T	19: 13,056,620 (GRCm39)		noncoding transcript	Het
Or8g24	A	G	9: 38,989,555 (GRCm39)	F162S	probably benign	Het
Pate5	A	G	9: 35,750,732 (GRCm39)	V30A	probably damaging	Het
Pkhd1l1	T	A	15: 44,397,287 (GRCm39)	N2057K	possibly damaging	Het
Ppip5k2	T	C	1: 97,639,474 (GRCm39)	K1078R	possibly damaging	Het
Prdm11	A	G	2: 92,810,954 (GRCm39)	I215T	probably damaging	Het
Ptpn13	C	T	5: 103,735,912 (GRCm39)	P2137L	probably benign	Het
Rif1	T	A	2: 51,974,998 (GRCm39)		probably null	Het
Rnf17	T	C	14: 56,759,848 (GRCm39)	V1551A	probably benign	Het
Ror2	C	T	13: 53,271,183 (GRCm39)	V391I	probably benign	Het
Rps6ka2	A	T	17: 7,560,188 (GRCm39)	D542V	probably damaging	Het
Sema4g	A	G	19: 44,985,010 (GRCm39)		probably null	Het
Serpinb6d	T	G	13: 33,850,366 (GRCm39)	S64R	probably benign	Het
Serpine1	C	T	5: 137,098,205 (GRCm39)	R156K	probably benign	Het
Setdb2	A	G	14: 59,639,752 (GRCm39)	I713T	possibly damaging	Het
Slamf7	A	G	1: 171,466,693 (GRCm39)	F171L	probably benign	Het
Slc15a5	A	G	6: 138,050,064 (GRCm39)	L117S	probably damaging	Het
Slc8a3	T	A	12: 81,362,760 (GRCm39)	T20S	probably damaging	Het
Slc8a3	T	A	12: 81,361,473 (GRCm39)	T449S	probably benign	Het
Smc2	G	A	4: 52,462,926 (GRCm39)	V639M	possibly damaging	Het
Sra1	A	T	18: 36,809,494 (GRCm39)	C223*	probably null	Het
Srgap1	A	T	10: 121,621,457 (GRCm39)	M1012K	probably benign	Het
Stk-ps2	A	T	1: 46,068,602 (GRCm39)		noncoding transcript	Het
Taar6	A	T	10: 23,861,106 (GRCm39)	S147T	probably benign	Het
Taf15	G	A	11: 83,375,637 (GRCm39)	G34D	possibly damaging	Het
Tarbp1	T	C	8: 127,174,184 (GRCm39)	E874G	possibly damaging	Het
Tob2	T	C	15: 81,735,924 (GRCm39)	Y15C	probably damaging	Het
Trim12a	A	G	7: 103,953,565 (GRCm39)	V182A	possibly damaging	Het
Trim67	A	G	8: 125,521,406 (GRCm39)	E256G	probably benign	Het
Trrap	T	A	5: 144,742,530 (GRCm39)	S1382T	possibly damaging	Het
Ttc39d	T	A	17: 80,523,462 (GRCm39)	S40R	probably benign	Het
Ttn	A	T	2: 76,779,406 (GRCm39)	V1158E	probably benign	Het
Vmn1r19	C	T	6: 57,381,927 (GRCm39)	T160I	probably benign	Het
Vmn2r100	T	C	17: 19,752,300 (GRCm39)	I781T	probably benign	Het
Vmn2r85	T	C	10: 130,261,113 (GRCm39)	E408G	probably damaging	Het
Vwde	T	C	6: 13,187,138 (GRCm39)	D783G	probably damaging	Het
Wdr27	A	T	17: 15,096,395 (GRCm39)	D796E	probably damaging	Het
Zfp365	C	T	10: 67,725,821 (GRCm39)		probably null	Het
Zfp9	T	G	6: 118,441,408 (GRCm39)	H418P	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
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
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
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'- ATCCAGCACTATCGGACAGG -3'
(R):5'- ATGCGCTAGAACCCCAATGG -3'

Sequencing Primer
(F):5'- ACTATCGGACAGGAGCTGCTAATTTG -3'
(R):5'- GGGAGCATATGCCTAAGTCTC -3'

Posted On

2016-04-27