Mutagenetix > Incidental Mutation

Incidental Mutation 'R7000:Acap3'

544458

Institutional Source

Beutler Lab

Gene Symbol

Acap3

Ensembl Gene

ENSMUSG00000029033

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

Synonyms

Centb5, Kiaa1716-hp

MMRRC Submission

045105-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R7000 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155976332-155991708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155988306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 602 (G602S)

Ref Sequence

ENSEMBL: ENSMUSP00000101209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079031] [ENSMUST00000105584]

AlphaFold

Q6NXL5

Predicted Effect

probably benign
Transcript: ENSMUST00000079031
AA Change: G598S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: G598S

Domain	Start	End	E-Value	Type
low complexity region	17	31	N/A	INTRINSIC
PH	265	361	6.35e-16	SMART
low complexity region	377	391	N/A	INTRINSIC
ArfGap	399	521	4.62e-56	SMART
low complexity region	554	566	N/A	INTRINSIC
low complexity region	601	617	N/A	INTRINSIC
low complexity region	628	650	N/A	INTRINSIC
low complexity region	669	686	N/A	INTRINSIC
ANK	696	725	3.91e-3	SMART
ANK	729	758	2.43e1	SMART
low complexity region	781	796	N/A	INTRINSIC
low complexity region	797	809	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105584
AA Change: G602S

PolyPhen 2 Score 0.791 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: G602S

Domain	Start	End	E-Value	Type
Pfam:BAR_3	3	236	4.1e-95	PFAM
PH	269	365	6.35e-16	SMART
low complexity region	381	395	N/A	INTRINSIC
ArfGap	403	525	4.62e-56	SMART
low complexity region	558	570	N/A	INTRINSIC
low complexity region	605	621	N/A	INTRINSIC
low complexity region	632	654	N/A	INTRINSIC
low complexity region	673	690	N/A	INTRINSIC
ANK	700	729	3.91e-3	SMART
ANK	733	762	2.43e1	SMART
low complexity region	785	800	N/A	INTRINSIC
low complexity region	801	813	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,823 (GRCm39)	A525T	probably benign	Het
Abcc6	A	G	7: 45,654,946 (GRCm39)	I515T	possibly damaging	Het
Abi1	G	A	2: 22,832,053 (GRCm39)	A420V	probably damaging	Het
Abtb2	A	T	2: 103,542,787 (GRCm39)	I887F	possibly damaging	Het
Auts2	T	A	5: 131,469,056 (GRCm39)	T754S	probably benign	Het
AW551984	T	C	9: 39,512,085 (GRCm39)	R12G	probably benign	Het
Bcan	G	A	3: 87,895,686 (GRCm39)	R817*	probably null	Het
Bmp10	A	G	6: 87,411,175 (GRCm39)	T323A	probably benign	Het
Bpnt1	T	C	1: 185,082,053 (GRCm39)	L165P	probably damaging	Het
Casz1	G	A	4: 149,013,693 (GRCm39)	A86T	probably damaging	Het
Ccn3	A	T	15: 54,615,743 (GRCm39)	T303S	probably damaging	Het
Cd1d2	T	C	3: 86,895,080 (GRCm39)	F189L	probably benign	Het
Cep72	A	G	13: 74,206,444 (GRCm39)	M126T	probably damaging	Het
Cep85l	T	A	10: 53,174,295 (GRCm39)	T483S	probably damaging	Het
Cfi	C	A	3: 129,666,522 (GRCm39)	T415K	probably damaging	Het
Chrna7	A	G	7: 62,755,787 (GRCm39)	L253S	probably damaging	Het
Col4a4	T	C	1: 82,475,051 (GRCm39)	H596R	unknown	Het
Cplx3	G	C	9: 57,523,231 (GRCm39)	Q109E	probably benign	Het
Cyp2j8	A	T	4: 96,335,588 (GRCm39)	M402K	probably benign	Het
Cyp3a16	T	A	5: 145,399,980 (GRCm39)		probably null	Het
Dhdh	T	C	7: 45,124,698 (GRCm39)	K332E	possibly damaging	Het
Dnah11	C	A	12: 117,981,396 (GRCm39)	C2590F	probably damaging	Het
Dnah17	T	C	11: 117,916,528 (GRCm39)		probably null	Het
Dtx1	A	G	5: 120,833,148 (GRCm39)	Y97H	probably damaging	Het
Duxf1	T	C	10: 58,058,814 (GRCm39)	T647A	possibly damaging	Het
Elf1	A	G	14: 79,808,208 (GRCm39)	D183G	probably damaging	Het
Esyt3	A	C	9: 99,204,206 (GRCm39)	L94R	probably damaging	Het
Exoc3	A	G	13: 74,330,285 (GRCm39)	Y521H	probably benign	Het
F5	C	T	1: 164,007,075 (GRCm39)	T293M	probably damaging	Het
Fam118b	A	T	9: 35,146,560 (GRCm39)	H102Q	probably damaging	Het
Flad1	T	C	3: 89,309,549 (GRCm39)		probably benign	Het
Flrt3	G	A	2: 140,502,804 (GRCm39)	R275*	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Fscn1	T	A	5: 142,946,382 (GRCm39)	V60E	probably damaging	Het
Gm17175	A	T	14: 51,811,418 (GRCm39)	M1K	probably null	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gprc6a	T	C	10: 51,491,143 (GRCm39)	S694G	probably benign	Het
Iglon5	A	T	7: 43,126,254 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,361,892 (GRCm39)	T874A	probably benign	Het
Lamc2	T	A	1: 153,041,873 (GRCm39)	H87L	possibly damaging	Het
Ldlrad1	T	A	4: 107,066,777 (GRCm39)	D37E	probably benign	Het
Loxhd1	T	C	18: 77,460,129 (GRCm39)		probably null	Het
Lxn	T	G	3: 67,369,704 (GRCm39)	E60D	probably benign	Het
Man2b2	A	G	5: 36,979,213 (GRCm39)	W276R	probably damaging	Het
Mast1	T	C	8: 85,655,598 (GRCm39)	Y182C	probably damaging	Het
Mroh8	C	T	2: 157,058,897 (GRCm39)	R923Q	probably benign	Het
Obscn	A	G	11: 59,026,864 (GRCm39)	L113P	probably damaging	Het
Ocln	C	T	13: 100,671,470 (GRCm39)		probably null	Het
Oog2	A	T	4: 143,921,897 (GRCm39)	Q269L	probably damaging	Het
Or52e8	G	A	7: 104,624,338 (GRCm39)	P285S	probably damaging	Het
Or5b113	A	G	19: 13,341,987 (GRCm39)		probably benign	Het
Osbpl3	A	G	6: 50,274,137 (GRCm39)	S826P	probably damaging	Het
Otogl	T	C	10: 107,615,692 (GRCm39)	N1869S	probably benign	Het
Pamr1	G	A	2: 102,441,968 (GRCm39)	D186N	probably damaging	Het
Pcdhga8	T	A	18: 37,859,946 (GRCm39)	I334K	probably benign	Het
Pde7b	A	G	10: 20,319,038 (GRCm39)	S95P	probably damaging	Het
Pik3cg	A	T	12: 32,242,128 (GRCm39)	V994E	probably damaging	Het
Pkp1	T	C	1: 135,817,692 (GRCm39)	M148V	probably benign	Het
Plbd1	T	G	6: 136,589,836 (GRCm39)	K461Q	probably benign	Het
Pmfbp1	A	G	8: 110,257,221 (GRCm39)	E594G	possibly damaging	Het
Pold3	A	T	7: 99,755,865 (GRCm39)	H60Q	probably damaging	Het
Polr3gl	C	T	3: 96,487,783 (GRCm39)	R52Q	possibly damaging	Het
Ptgds	A	G	2: 25,357,828 (GRCm39)		probably null	Het
Scarb2	T	C	5: 92,601,934 (GRCm39)	D320G	probably benign	Het
Sdk2	T	C	11: 113,693,995 (GRCm39)	Y1812C	probably damaging	Het
Skint8	C	A	4: 111,794,222 (GRCm39)	T204N	probably benign	Het
Slc23a2	T	C	2: 131,936,123 (GRCm39)	Q49R	possibly damaging	Het
Slc26a7	T	C	4: 14,552,476 (GRCm39)	Q227R	probably benign	Het
Sntn	C	T	14: 13,679,108 (GRCm38)	T94I	probably damaging	Het
Spem2	C	T	11: 69,708,582 (GRCm39)	G128S	probably benign	Het
Supt16	A	T	14: 52,408,907 (GRCm39)	S822R	probably damaging	Het
Syn3	T	C	10: 85,916,116 (GRCm39)	Y290C	probably damaging	Het
Tdrd6	C	G	17: 43,938,599 (GRCm39)	E816D	probably benign	Het
Tln1	A	T	4: 43,556,302 (GRCm39)	M72K	probably damaging	Het
Tlnrd1	A	G	7: 83,531,987 (GRCm39)	V148A	probably damaging	Het
Trim24	C	A	6: 37,935,613 (GRCm39)	T832K	probably benign	Het
Ubr4	C	T	4: 139,141,715 (GRCm39)	A1267V	probably damaging	Het
Usp17lb	A	T	7: 104,490,492 (GRCm39)	M145K	probably damaging	Het
Vmn1r178	T	A	7: 23,593,762 (GRCm39)	M270K	probably benign	Het
Vmn2r70	A	T	7: 85,208,819 (GRCm39)	C553S	probably damaging	Het
Vps37c	G	T	19: 10,687,693 (GRCm39)	E51D	probably damaging	Het
Zfp62	T	G	11: 49,107,206 (GRCm39)	Y432*	probably null	Het

Other mutations in Acap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Acap3	APN	4	155,986,676 (GRCm39)	missense	probably damaging	0.99
IGL01815:Acap3	APN	4	155,986,644 (GRCm39)	missense	probably damaging	1.00
IGL02104:Acap3	APN	4	155,989,542 (GRCm39)	missense	probably damaging	1.00
IGL02387:Acap3	APN	4	155,986,617 (GRCm39)	missense	probably damaging	1.00
IGL02544:Acap3	APN	4	155,976,867 (GRCm39)	missense	possibly damaging	0.93
IGL03124:Acap3	APN	4	155,989,490 (GRCm39)	missense	probably benign	0.00
IGL03052:Acap3	UTSW	4	155,987,815 (GRCm39)	missense	probably damaging	1.00
PIT4514001:Acap3	UTSW	4	155,987,835 (GRCm39)	missense	probably benign	0.00
R0207:Acap3	UTSW	4	155,983,881 (GRCm39)	missense	probably damaging	1.00
R0452:Acap3	UTSW	4	155,986,785 (GRCm39)	nonsense	probably null
R1110:Acap3	UTSW	4	155,989,856 (GRCm39)	splice site	probably null
R1387:Acap3	UTSW	4	155,983,937 (GRCm39)	missense	probably benign	0.06
R1475:Acap3	UTSW	4	155,987,278 (GRCm39)	missense	probably damaging	1.00
R1535:Acap3	UTSW	4	155,980,631 (GRCm39)	splice site	probably benign
R2136:Acap3	UTSW	4	155,981,369 (GRCm39)	missense	probably damaging	1.00
R2149:Acap3	UTSW	4	155,990,082 (GRCm39)	missense	probably damaging	1.00
R2218:Acap3	UTSW	4	155,988,319 (GRCm39)	splice site	probably null
R2897:Acap3	UTSW	4	155,989,388 (GRCm39)	splice site	probably null
R2898:Acap3	UTSW	4	155,987,916 (GRCm39)	missense	possibly damaging	0.88
R2898:Acap3	UTSW	4	155,989,388 (GRCm39)	splice site	probably null
R3008:Acap3	UTSW	4	155,990,139 (GRCm39)	missense	probably benign	0.37
R4170:Acap3	UTSW	4	155,984,458 (GRCm39)	missense	possibly damaging	0.85
R4193:Acap3	UTSW	4	155,986,234 (GRCm39)	missense	probably benign	0.07
R4822:Acap3	UTSW	4	155,986,908 (GRCm39)	intron	probably benign
R4882:Acap3	UTSW	4	155,990,112 (GRCm39)	missense	probably damaging	0.99
R5482:Acap3	UTSW	4	155,984,613 (GRCm39)	missense	probably benign	0.00
R5655:Acap3	UTSW	4	155,981,076 (GRCm39)	missense	probably benign	0.22
R5769:Acap3	UTSW	4	155,986,857 (GRCm39)	missense	probably damaging	0.99
R5943:Acap3	UTSW	4	155,983,879 (GRCm39)	missense	possibly damaging	0.78
R6236:Acap3	UTSW	4	155,989,664 (GRCm39)	missense	possibly damaging	0.91
R6259:Acap3	UTSW	4	155,980,575 (GRCm39)	missense	possibly damaging	0.91
R6790:Acap3	UTSW	4	155,987,448 (GRCm39)	missense	probably damaging	1.00
R7352:Acap3	UTSW	4	155,990,168 (GRCm39)	missense	possibly damaging	0.56
R7442:Acap3	UTSW	4	155,990,078 (GRCm39)	missense	probably damaging	0.98
R8722:Acap3	UTSW	4	155,990,415 (GRCm39)	makesense	probably null
R8810:Acap3	UTSW	4	155,990,169 (GRCm39)	missense	probably damaging	1.00
R8902:Acap3	UTSW	4	155,990,371 (GRCm39)	missense	possibly damaging	0.67
R9182:Acap3	UTSW	4	155,989,892 (GRCm39)	missense	probably damaging	1.00
R9255:Acap3	UTSW	4	155,990,145 (GRCm39)	missense	probably benign	0.07
RF008:Acap3	UTSW	4	155,989,555 (GRCm39)	small insertion	probably benign
RF010:Acap3	UTSW	4	155,989,553 (GRCm39)	small insertion	probably benign
RF013:Acap3	UTSW	4	155,989,553 (GRCm39)	small insertion	probably benign
RF022:Acap3	UTSW	4	155,989,553 (GRCm39)	small insertion	probably benign
RF025:Acap3	UTSW	4	155,989,559 (GRCm39)	small insertion	probably benign
RF028:Acap3	UTSW	4	155,989,548 (GRCm39)	small insertion	probably benign
RF032:Acap3	UTSW	4	155,989,559 (GRCm39)	small insertion	probably benign
RF034:Acap3	UTSW	4	155,989,549 (GRCm39)	small insertion	probably benign
RF035:Acap3	UTSW	4	155,989,548 (GRCm39)	small insertion	probably benign
RF036:Acap3	UTSW	4	155,989,544 (GRCm39)	small insertion	probably benign
RF038:Acap3	UTSW	4	155,989,549 (GRCm39)	small insertion	probably benign
RF039:Acap3	UTSW	4	155,989,549 (GRCm39)	small insertion	probably benign
RF041:Acap3	UTSW	4	155,989,557 (GRCm39)	small insertion	probably benign
RF064:Acap3	UTSW	4	155,989,557 (GRCm39)	small insertion	probably benign
Z1176:Acap3	UTSW	4	155,989,636 (GRCm39)	missense	probably damaging	1.00
Z1177:Acap3	UTSW	4	155,989,975 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACAACTTGAGGTGTCTCC -3'
(R):5'- AACCCCAAATTGGTGATCAAGG -3'

Sequencing Primer
(F):5'- GAGGTGTCTCCCCAATCCTAAG -3'
(R):5'- AATGCTGAGGCCCTTTACTACAG -3'

Posted On

2019-05-13