Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03090:Arap3'

418341

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Arap3

Ensembl Gene

ENSMUSG00000024451

Gene Name

ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3

Synonyms

Centd3, E030006K04Rik, DRAG1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.813) question?

Stock #

IGL03090

Quality Score

Status

Chromosome

Chromosomal Location

38105681-38132022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38122165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 641 (E641G)

Ref Sequence

ENSEMBL: ENSMUSP00000035662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042944]

AlphaFold

Q8R5G7

Predicted Effect

probably benign
Transcript: ENSMUST00000042944
AA Change: E641G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000035662
Gene: ENSMUSG00000024451
AA Change: E641G

Domain	Start	End	E-Value	Type
SAM	1	68	1.5e-7	SMART
low complexity region	81	98	N/A	INTRINSIC
low complexity region	134	142	N/A	INTRINSIC
PH	283	376	3.4e-16	SMART
PH	390	480	1.61e-8	SMART
ArfGap	484	606	1.44e-25	SMART
low complexity region	642	661	N/A	INTRINSIC
PH	671	785	2.86e1	SMART
PH	795	901	6.87e-3	SMART
RhoGAP	913	1089	2.11e-47	SMART
Pfam:RA	1113	1206	6.2e-16	PFAM
PH	1220	1323	3.46e-8	SMART
low complexity region	1388	1407	N/A	INTRINSIC
low complexity region	1457	1469	N/A	INTRINSIC
low complexity region	1475	1486	N/A	INTRINSIC
low complexity region	1494	1529	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185063

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a phosphoinositide binding protein containing ARF-GAP, RHO-GAP, RAS-associating, and pleckstrin homology domains. The ARF-GAP and RHO-GAP domains cooperate in mediating rearrangements in the cell cytoskeleton and cell shape. It is a specific PtdIns(3,4,5)P3/PtdIns(3,4)P2-stimulated Arf6-GAP protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele die around E11 exhibiting pallor, embryonic growth arrest, yolk sac and placental abnormalities, and an endothelial cell-autonomous defect in sprouting angiogenesis. Knock-in mice homozygous for a point mutation display similar angiogenesis defects. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted(5)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,247,965 (GRCm39)	Y25C	probably benign	Het
Agap3	A	C	5: 24,706,204 (GRCm39)	T823P	possibly damaging	Het
Armc6	C	T	8: 70,684,004 (GRCm39)	R16Q	probably benign	Het
Asb15	T	A	6: 24,567,185 (GRCm39)	I502K	possibly damaging	Het
Atp8b3	T	A	10: 80,366,438 (GRCm39)	N275I	probably damaging	Het
Calr	G	A	8: 85,573,373 (GRCm39)	P19S	possibly damaging	Het
Cdc6	T	A	11: 98,810,122 (GRCm39)	L477*	probably null	Het
Clba1	T	C	12: 112,779,340 (GRCm39)		probably null	Het
Cnnm4	A	G	1: 36,510,952 (GRCm39)	D60G	probably benign	Het
Col12a1	G	T	9: 79,585,652 (GRCm39)	Q1242K	probably damaging	Het
Dusp18	T	A	11: 3,847,466 (GRCm39)	I152N	probably damaging	Het
Eef1akmt1	T	C	14: 57,795,543 (GRCm39)	T69A	probably damaging	Het
Efhb	T	C	17: 53,769,958 (GRCm39)	Q117R	probably benign	Het
Fancd2	T	A	6: 113,514,558 (GRCm39)		probably null	Het
Fat3	C	T	9: 16,288,535 (GRCm39)	W329*	probably null	Het
Frem3	A	G	8: 81,344,858 (GRCm39)	Y1727C	probably benign	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
Gatb	C	A	3: 85,526,330 (GRCm39)		probably benign	Het
Gpr33	A	T	12: 52,070,809 (GRCm39)	S77T	probably damaging	Het
Gramd1c	A	T	16: 43,802,463 (GRCm39)	D649E	probably benign	Het
Herc2	T	A	7: 55,854,221 (GRCm39)	L3745H	probably damaging	Het
Klk1b11	T	A	7: 43,426,977 (GRCm39)	M87K	probably benign	Het
Krt39	T	G	11: 99,409,833 (GRCm39)		probably benign	Het
Lamc3	T	A	2: 31,798,710 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,285,025 (GRCm39)	M786R	probably damaging	Het
Lmcd1	T	A	6: 112,287,460 (GRCm39)	S49T	probably benign	Het
Lrba	T	C	3: 86,680,448 (GRCm39)	Y2689H	probably benign	Het
Map3k6	T	C	4: 132,970,677 (GRCm39)	V188A	probably benign	Het
Mbd6	A	C	10: 127,123,013 (GRCm39)	L49W	probably damaging	Het
Myo5a	A	T	9: 75,028,115 (GRCm39)	Y100F	probably damaging	Het
Myo9a	T	A	9: 59,801,418 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,538,396 (GRCm39)	D663G	probably damaging	Het
Nup214	A	T	2: 31,908,254 (GRCm39)	M1075L	probably benign	Het
Pkd1l3	C	A	8: 110,382,165 (GRCm39)	Y240*	probably null	Het
Pomk	T	A	8: 26,473,338 (GRCm39)	N205I	probably damaging	Het
Sdr16c5	A	G	4: 4,006,575 (GRCm39)		probably benign	Het
Setd1a	A	G	7: 127,385,672 (GRCm39)	E250G	possibly damaging	Het
Slc26a6	A	G	9: 108,737,890 (GRCm39)	E541G	probably benign	Het
Slc4a3	A	G	1: 75,531,661 (GRCm39)	E876G	probably benign	Het
Srrm4	A	G	5: 116,587,643 (GRCm39)		probably benign	Het
Stx12	A	G	4: 132,590,540 (GRCm39)	V119A	probably benign	Het
Tmem8b	T	A	4: 43,689,721 (GRCm39)	S333T	probably damaging	Het
Usp31	T	C	7: 121,278,753 (GRCm39)		probably benign	Het
Utp18	T	C	11: 93,759,245 (GRCm39)	R410G	probably damaging	Het
Vmn1r172	T	C	7: 23,359,463 (GRCm39)	I116T	probably damaging	Het
Vwa8	T	A	14: 79,172,041 (GRCm39)	L274Q	possibly damaging	Het
Wdfy3	A	T	5: 102,014,142 (GRCm39)	F2655I	probably damaging	Het
Zfp423	A	T	8: 88,508,071 (GRCm39)	Y737N	probably damaging	Het
Zyx	C	A	6: 42,334,276 (GRCm39)	S500*	probably null	Het

Other mutations in Arap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Arap3	APN	18	38,108,979 (GRCm39)	missense	probably damaging	1.00
IGL01145:Arap3	APN	18	38,122,232 (GRCm39)	missense	probably benign
IGL01154:Arap3	APN	18	38,129,787 (GRCm39)	missense	probably benign	0.28
IGL01305:Arap3	APN	18	38,124,380 (GRCm39)	critical splice donor site	probably null
IGL01542:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01543:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01544:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01545:Arap3	APN	18	38,123,889 (GRCm39)	missense	probably damaging	0.98
IGL01677:Arap3	APN	18	38,129,700 (GRCm39)	missense	probably benign
IGL01925:Arap3	APN	18	38,117,299 (GRCm39)	missense	probably benign	0.21
IGL01933:Arap3	APN	18	38,111,506 (GRCm39)	missense	possibly damaging	0.65
IGL02048:Arap3	APN	18	38,130,032 (GRCm39)	missense	possibly damaging	0.56
IGL02064:Arap3	APN	18	38,124,754 (GRCm39)	missense	probably damaging	1.00
IGL02207:Arap3	APN	18	38,120,906 (GRCm39)	missense	probably benign	0.00
IGL02376:Arap3	APN	18	38,111,506 (GRCm39)	missense	possibly damaging	0.95
IGL02531:Arap3	APN	18	38,122,804 (GRCm39)	missense	probably damaging	0.99
IGL02568:Arap3	APN	18	38,129,711 (GRCm39)	missense	probably benign	0.32
IGL02640:Arap3	APN	18	38,120,855 (GRCm39)	missense	possibly damaging	0.71
IGL02658:Arap3	APN	18	38,124,047 (GRCm39)	missense	probably benign	0.09
IGL03352:Arap3	APN	18	38,114,355 (GRCm39)	splice site	probably benign
ANU22:Arap3	UTSW	18	38,124,380 (GRCm39)	critical splice donor site	probably null
P0016:Arap3	UTSW	18	38,117,401 (GRCm39)	missense	probably benign	0.00
PIT4260001:Arap3	UTSW	18	38,129,948 (GRCm39)	missense	probably benign	0.08
R0066:Arap3	UTSW	18	38,129,760 (GRCm39)	missense	probably benign	0.01
R0324:Arap3	UTSW	18	38,106,278 (GRCm39)	missense	possibly damaging	0.93
R0562:Arap3	UTSW	18	38,108,593 (GRCm39)	missense	probably damaging	1.00
R1289:Arap3	UTSW	18	38,115,026 (GRCm39)	missense	possibly damaging	0.95
R1346:Arap3	UTSW	18	38,108,971 (GRCm39)	missense	probably damaging	1.00
R1419:Arap3	UTSW	18	38,111,485 (GRCm39)	missense	possibly damaging	0.51
R1470:Arap3	UTSW	18	38,122,249 (GRCm39)	critical splice acceptor site	probably null
R1470:Arap3	UTSW	18	38,122,249 (GRCm39)	critical splice acceptor site	probably null
R1537:Arap3	UTSW	18	38,122,737 (GRCm39)	critical splice donor site	probably null
R1644:Arap3	UTSW	18	38,117,298 (GRCm39)	missense	probably damaging	1.00
R1731:Arap3	UTSW	18	38,122,965 (GRCm39)	missense	probably benign	0.01
R1758:Arap3	UTSW	18	38,122,965 (GRCm39)	missense	probably benign	0.01
R1843:Arap3	UTSW	18	38,108,636 (GRCm39)	missense	probably damaging	1.00
R1907:Arap3	UTSW	18	38,129,724 (GRCm39)	missense	probably benign	0.28
R1954:Arap3	UTSW	18	38,115,055 (GRCm39)	missense	probably damaging	1.00
R2124:Arap3	UTSW	18	38,106,403 (GRCm39)	missense	probably damaging	0.98
R2135:Arap3	UTSW	18	38,107,509 (GRCm39)	missense	probably damaging	1.00
R2172:Arap3	UTSW	18	38,123,613 (GRCm39)	missense	probably damaging	1.00
R2418:Arap3	UTSW	18	38,122,997 (GRCm39)	missense	probably damaging	1.00
R2419:Arap3	UTSW	18	38,122,997 (GRCm39)	missense	probably damaging	1.00
R2907:Arap3	UTSW	18	38,123,580 (GRCm39)	missense	possibly damaging	0.88
R4425:Arap3	UTSW	18	38,111,653 (GRCm39)	missense	probably damaging	1.00
R4669:Arap3	UTSW	18	38,129,307 (GRCm39)	missense	probably benign	0.08
R4734:Arap3	UTSW	18	38,129,328 (GRCm39)	missense	probably benign	0.00
R4815:Arap3	UTSW	18	38,106,296 (GRCm39)	missense	probably benign
R5328:Arap3	UTSW	18	38,124,740 (GRCm39)	missense	possibly damaging	0.92
R5350:Arap3	UTSW	18	38,115,088 (GRCm39)	missense	probably damaging	1.00
R5466:Arap3	UTSW	18	38,129,789 (GRCm39)	missense	probably benign	0.00
R5482:Arap3	UTSW	18	38,107,727 (GRCm39)	missense	possibly damaging	0.95
R5572:Arap3	UTSW	18	38,124,119 (GRCm39)	missense	probably damaging	1.00
R5779:Arap3	UTSW	18	38,117,418 (GRCm39)	missense	probably damaging	1.00
R6053:Arap3	UTSW	18	38,123,824 (GRCm39)	missense	probably damaging	0.98
R6144:Arap3	UTSW	18	38,118,486 (GRCm39)	missense	probably damaging	0.98
R6166:Arap3	UTSW	18	38,107,423 (GRCm39)	missense	probably damaging	1.00
R6248:Arap3	UTSW	18	38,124,407 (GRCm39)	missense	probably benign	0.09
R6266:Arap3	UTSW	18	38,123,844 (GRCm39)	missense	probably damaging	0.98
R6385:Arap3	UTSW	18	38,130,084 (GRCm39)	nonsense	probably null
R6694:Arap3	UTSW	18	38,124,590 (GRCm39)	critical splice donor site	probably null
R6856:Arap3	UTSW	18	38,112,916 (GRCm39)	missense	possibly damaging	0.95
R7073:Arap3	UTSW	18	38,107,495 (GRCm39)	nonsense	probably null
R7297:Arap3	UTSW	18	38,106,616 (GRCm39)	missense	possibly damaging	0.81
R7352:Arap3	UTSW	18	38,106,331 (GRCm39)	missense	probably benign	0.00
R7652:Arap3	UTSW	18	38,111,505 (GRCm39)	missense	probably damaging	0.99
R7726:Arap3	UTSW	18	38,122,520 (GRCm39)	missense	probably damaging	0.99
R7747:Arap3	UTSW	18	38,121,941 (GRCm39)	splice site	probably null
R7944:Arap3	UTSW	18	38,122,232 (GRCm39)	missense	probably benign
R8152:Arap3	UTSW	18	38,124,410 (GRCm39)	missense	possibly damaging	0.61
R8338:Arap3	UTSW	18	38,106,683 (GRCm39)	missense	probably damaging	0.99
R8549:Arap3	UTSW	18	38,106,365 (GRCm39)	missense	probably benign	0.17
R8793:Arap3	UTSW	18	38,107,492 (GRCm39)	missense	probably benign	0.04
R8876:Arap3	UTSW	18	38,130,077 (GRCm39)	missense	possibly damaging	0.67
R9142:Arap3	UTSW	18	38,112,934 (GRCm39)	missense	possibly damaging	0.80
R9237:Arap3	UTSW	18	38,112,934 (GRCm39)	missense	possibly damaging	0.80
R9583:Arap3	UTSW	18	38,109,096 (GRCm39)	missense	probably damaging	0.97
R9696:Arap3	UTSW	18	38,112,905 (GRCm39)	missense	probably damaging	1.00
X0011:Arap3	UTSW	18	38,107,154 (GRCm39)	critical splice donor site	probably null
X0026:Arap3	UTSW	18	38,118,364 (GRCm39)	critical splice donor site	probably null
X0027:Arap3	UTSW	18	38,106,538 (GRCm39)	splice site	probably null
X0066:Arap3	UTSW	18	38,124,699 (GRCm39)	missense	probably benign

Posted On

2016-08-02