Mutagenetix > Incidental Mutation

Incidental Mutation 'R7207:Agap1'

560673

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

Accession Numbers

Essential gene?

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

Stock #

R7207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

89382533-89823004 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89770821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 657 (H657L)

Ref Sequence

ENSEMBL: ENSMUSP00000027521 (fasta)

Gene Model

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

AlphaFold

Q8BXK8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027521
AA Change: H657L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027521
Gene: ENSMUSG00000055013
AA Change: H657L

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: H470L

PolyPhen 2 Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074478
Gene: ENSMUSG00000055013
AA Change: H470L

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: H604L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140599
Gene: ENSMUSG00000055013
AA Change: H604L

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,527,734 (GRCm39)	Y1019H	probably benign	Het
Adam11	C	A	11: 102,662,883 (GRCm39)	A212D	probably benign	Het
Adamts13	C	A	2: 26,868,707 (GRCm39)	H230Q	probably damaging	Het
Adgrl3	G	A	5: 81,457,874 (GRCm39)	M1I	probably null	Het
Ano3	T	C	2: 110,611,768 (GRCm39)	D238G	probably damaging	Het
Atp8b5	A	T	4: 43,357,018 (GRCm39)	I589F	probably damaging	Het
Bmp1	C	T	14: 70,717,000 (GRCm39)	A859T	possibly damaging	Het
Cdh20	C	A	1: 104,921,702 (GRCm39)	D666E	probably damaging	Het
Cep135	T	G	5: 76,780,090 (GRCm39)	D807E	probably benign	Het
Cldn13	G	A	5: 134,943,766 (GRCm39)	H140Y	probably benign	Het
Cnksr1	G	T	4: 133,962,434 (GRCm39)	Q155K	possibly damaging	Het
Col1a1	G	A	11: 94,829,352 (GRCm39)	R121Q	unknown	Het
Coro6	G	A	11: 77,358,089 (GRCm39)	A225T	possibly damaging	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Dhrs7b	C	A	11: 60,746,623 (GRCm39)	Y237*	probably null	Het
Dnah3	A	G	7: 119,570,312 (GRCm39)	F2303L	probably damaging	Het
Dsg2	T	A	18: 20,734,516 (GRCm39)	D831E	probably damaging	Het
Dst	T	C	1: 34,202,418 (GRCm39)	S575P	probably damaging	Het
Epg5	T	C	18: 77,992,170 (GRCm39)	L289P	probably damaging	Het
Etl4	A	G	2: 20,714,387 (GRCm39)	N162S	probably damaging	Het
Fbf1	A	T	11: 116,040,300 (GRCm39)	Y602N	probably benign	Het
Fgd4	A	T	16: 16,302,420 (GRCm39)	M45K	probably benign	Het
Fryl	C	T	5: 73,222,438 (GRCm39)	V2048I	probably benign	Het
Gulp1	T	C	1: 44,805,292 (GRCm39)	V127A	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,490 (GRCm39)	I203N	probably damaging	Het
Harbi1	T	C	2: 91,542,790 (GRCm39)	S84P	probably damaging	Het
Hrh2	T	C	13: 54,368,266 (GRCm39)	S81P	possibly damaging	Het
Iars1	T	C	13: 49,841,791 (GRCm39)		probably null	Het
Kcnma1	T	C	14: 23,359,083 (GRCm39)	*1087W	probably null	Het
Lama5	T	A	2: 179,848,877 (GRCm39)	N241I	probably damaging	Het
Lig4	T	A	8: 10,022,101 (GRCm39)	K560*	probably null	Het
Lpin3	G	T	2: 160,735,923 (GRCm39)	E68*	probably null	Het
Mrtfb	A	T	16: 13,144,300 (GRCm39)	I7L	probably benign	Het
Msrb3	A	T	10: 120,627,305 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,416,602 (GRCm39)	T3183A	probably benign	Het
Mx1	T	A	16: 97,253,398 (GRCm39)	D342V	probably benign	Het
Nrap	G	T	19: 56,333,953 (GRCm39)	T1003K	probably damaging	Het
Or8u10	A	G	2: 85,915,159 (GRCm39)	S321P	possibly damaging	Het
Plxna2	C	T	1: 194,326,327 (GRCm39)	P87L	probably damaging	Het
Pms2	C	T	5: 143,850,452 (GRCm39)	T89I	probably damaging	Het
Ppp1r12c	C	A	7: 4,492,867 (GRCm39)	R203L	probably damaging	Het
Pramel31	A	G	4: 144,088,473 (GRCm39)	T90A	probably benign	Het
Rab44	C	T	17: 29,357,013 (GRCm39)	Q48*	probably null	Het
Rgs14	T	C	13: 55,531,047 (GRCm39)	V417A	probably benign	Het
Sgms1	T	A	19: 32,120,147 (GRCm39)	K253M	probably null	Het
Sidt2	T	C	9: 45,856,449 (GRCm39)	Y492C	probably damaging	Het
Slco1a5	G	T	6: 142,194,475 (GRCm39)	Y389*	probably null	Het
Slfn14	G	A	11: 83,170,214 (GRCm39)	Q477*	probably null	Het
Sorbs3	T	C	14: 70,438,934 (GRCm39)	K142R	probably damaging	Het
Sphk1	A	T	11: 116,426,590 (GRCm39)	D182V	probably damaging	Het
Srsf9	C	G	5: 115,465,481 (GRCm39)	Y38*	probably null	Het
Stk40	A	C	4: 126,019,547 (GRCm39)	E107A	probably damaging	Het
Syngr4	T	C	7: 45,538,101 (GRCm39)	Y89C	possibly damaging	Het
Tead1	G	A	7: 112,441,287 (GRCm39)	R109H	possibly damaging	Het
Thra	A	G	11: 98,651,802 (GRCm39)	Q108R	probably damaging	Het
Tnni3k	G	A	3: 154,580,782 (GRCm39)	T621I	probably damaging	Het
Trim3	A	C	7: 105,262,583 (GRCm39)	V525G	possibly damaging	Het
Usp49	T	C	17: 47,989,802 (GRCm39)	V529A	probably benign	Het
Vill	A	T	9: 118,900,281 (GRCm39)	Q849L	possibly damaging	Het
Vps36	T	A	8: 22,701,623 (GRCm39)	S237T	probably benign	Het
Zar1l	A	T	5: 150,430,558 (GRCm39)	C284*	probably null	Het
Zfp948	T	C	17: 21,808,602 (GRCm39)	V598A	possibly damaging	Het
Zfp952	T	C	17: 33,222,489 (GRCm39)	Y323H	possibly 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
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
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'- AGTCATATGGGGACTGACTAGTTG -3'
(R):5'- AGTTGTAAGTGCCCTGGCTG -3'

Sequencing Primer
(F):5'- ACTAGTTGTTGAGGTGAGAATCCAG -3'
(R):5'- ATCCCCAGCCGTGTAACTG -3'

Posted On

2019-06-26