Mutagenetix > Incidental Mutation

Incidental Mutation 'R7268:Agap1'

565045

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

045319-MU

Accession Numbers

Essential gene?

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

Stock #

R7268 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89382533-89823004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 89694070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 456 (I456S)

Ref Sequence

ENSEMBL: ENSMUSP00000027521 (fasta)

Gene Model

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

AlphaFold

Q8BXK8

Predicted Effect

probably benign
Transcript: ENSMUST00000027521
AA Change: I456S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: I456S

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 benign
Transcript: ENSMUST00000190096

SMART Domains

Protein: ENSMUSP00000140599
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (72/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	C	1: 156,461,509 (GRCm39)		probably null	Het
Acsf3	A	G	8: 123,517,401 (GRCm39)	Y399C	probably benign	Het
Acsm5	A	T	7: 119,136,511 (GRCm39)	T361S	probably benign	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Alb	T	A	5: 90,610,575 (GRCm39)	S52T	probably benign	Het
Ankle1	A	G	8: 71,860,189 (GRCm39)	T256A	probably damaging	Het
Armt1	G	A	10: 4,400,855 (GRCm39)	V201M	possibly damaging	Het
Atp2a2	T	C	5: 122,605,792 (GRCm39)	T388A	probably benign	Het
Atp6v0a2	T	C	5: 124,796,930 (GRCm39)	L770P	probably damaging	Het
B4galnt3	A	T	6: 120,192,003 (GRCm39)	W578R	possibly damaging	Het
Babam2	T	C	5: 31,859,197 (GRCm39)	S2P	probably damaging	Het
Baz2a	A	G	10: 127,960,090 (GRCm39)	H1459R	possibly damaging	Het
Bbs7	C	T	3: 36,658,575 (GRCm39)	R233Q	probably benign	Het
Cacna2d1	G	A	5: 16,575,586 (GRCm39)	G1076R	probably damaging	Het
Camsap2	C	T	1: 136,201,483 (GRCm39)		probably null	Het
Car10	A	G	11: 93,490,077 (GRCm39)	N273D	probably benign	Het
Ccdc66	T	C	14: 27,208,880 (GRCm39)	D458G	probably benign	Het
Ccdc7a	T	A	8: 129,607,633 (GRCm39)	H982L	possibly damaging	Het
Col9a1	A	G	1: 24,246,479 (GRCm39)	K386E	possibly damaging	Het
Ctcfl	A	G	2: 172,949,588 (GRCm39)	I415T	probably benign	Het
Cyp3a16	G	C	5: 145,404,280 (GRCm39)	Y54*	probably null	Het
Dact2	T	C	17: 14,416,797 (GRCm39)	T468A	probably benign	Het
Dgkb	T	A	12: 38,197,554 (GRCm39)	L355*	probably null	Het
Dhx40	A	T	11: 86,697,442 (GRCm39)	C42S	possibly damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dop1a	G	T	9: 86,394,830 (GRCm39)	E637*	probably null	Het
Dpp4	G	T	2: 62,178,186 (GRCm39)	P649T	probably damaging	Het
Eri3	T	A	4: 117,506,580 (GRCm39)	I303K	probably benign	Het
Foxi1	A	T	11: 34,155,783 (GRCm39)	Y282*	probably null	Het
Gdi2	T	A	13: 3,606,363 (GRCm39)	Y146*	probably null	Het
Gns	A	G	10: 121,212,557 (GRCm39)	Y173C	probably damaging	Het
Gpc1	C	A	1: 92,786,093 (GRCm39)	P494Q	possibly damaging	Het
Habp2	G	T	19: 56,302,518 (GRCm39)	G274V	probably damaging	Het
Hcfc2	T	A	10: 82,544,846 (GRCm39)	Y159*	probably null	Het
Hmcn2	T	A	2: 31,347,978 (GRCm39)	S4875T	possibly damaging	Het
Hmgcs2	A	G	3: 98,204,796 (GRCm39)	N318S	probably benign	Het
Lnpep	A	T	17: 17,758,803 (GRCm39)	M847K	probably benign	Het
Mmp16	A	C	4: 18,093,366 (GRCm39)	M374L	probably benign	Het
Mrpl38	A	G	11: 116,029,396 (GRCm39)	I40T	possibly damaging	Het
Ncstn	T	C	1: 171,908,830 (GRCm39)	T46A	possibly damaging	Het
Nlrp1a	C	T	11: 71,015,068 (GRCm39)	V61I	probably benign	Het
Npas2	G	T	1: 39,326,658 (GRCm39)	V48L	probably damaging	Het
Or13p5	A	G	4: 118,592,605 (GRCm39)	Y293C	probably damaging	Het
Or52ac1	G	A	7: 104,246,284 (GRCm39)	L35F	probably benign	Het
Or6c6	C	T	10: 129,187,263 (GRCm39)	T277I	possibly damaging	Het
Pcyox1	A	T	6: 86,368,713 (GRCm39)	N268K	possibly damaging	Het
Pramel14	A	T	4: 143,720,090 (GRCm39)		probably null	Het
Prr27	T	C	5: 87,991,135 (GRCm39)	L249P	probably damaging	Het
Psat1	A	T	19: 15,894,508 (GRCm39)	V168D	probably damaging	Het
Psg17	G	T	7: 18,548,586 (GRCm39)	T395K	possibly damaging	Het
Ptgis	A	G	2: 167,048,676 (GRCm39)	Y447H	probably benign	Het
Rad50	T	A	11: 53,575,102 (GRCm39)	N607I	probably benign	Het
Rps6ka2	T	C	17: 7,562,662 (GRCm39)	Y602H	possibly damaging	Het
Senp6	G	A	9: 80,049,406 (GRCm39)	R1010H	probably damaging	Het
Slc8a3	C	A	12: 81,361,827 (GRCm39)	D331Y	probably damaging	Het
Slc9c1	G	A	16: 45,370,479 (GRCm39)	S240N	probably damaging	Het
Slf1	A	G	13: 77,214,826 (GRCm39)	L620P	probably damaging	Het
Snx19	A	G	9: 30,351,473 (GRCm39)	E847G	probably damaging	Het
Spaca6	T	C	17: 18,052,369 (GRCm39)	V103A	probably benign	Het
Tbk1	A	G	10: 121,388,404 (GRCm39)	Y591H	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tfap2a	G	A	13: 40,882,236 (GRCm39)	T15I	possibly damaging	Het
Tgm2	G	A	2: 157,962,188 (GRCm39)	R544*	probably null	Het
Tmem116	T	A	5: 121,605,918 (GRCm39)	I90K		Het
Tmem30c	A	C	16: 57,086,777 (GRCm39)	L342R	probably damaging	Het
Trpm6	C	T	19: 18,755,949 (GRCm39)	T64I	probably benign	Het
Ttll8	A	G	15: 88,819,159 (GRCm39)		probably null	Het
Vcpip1	A	G	1: 9,816,307 (GRCm39)	I692T	probably damaging	Het
Vmn1r169	T	G	7: 23,276,853 (GRCm39)	F82V	probably benign	Het
Vmn1r178	G	A	7: 23,593,378 (GRCm39)	C142Y	probably benign	Het
Vmn2r16	T	A	5: 109,488,331 (GRCm39)	Y401*	probably null	Het
Wdr91	A	G	6: 34,869,375 (GRCm39)	V383A	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
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
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'- CTTACTGGAGTAGGCAGGATGAC -3'
(R):5'- ATTGGTGAGACATGCGTGC -3'

Sequencing Primer
(F):5'- CAGGATGACAGCAGCGTGC -3'
(R):5'- ACTGTCAGAGCAGCCCATG -3'

Posted On

2019-06-26