Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Acap3'

603323

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

RF013 (G1)

Quality Score

215.916

Status

Not validated

Chromosome

Chromosomal Location

155891822-155907251 bp(+) (GRCm38)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

CCTGGGCTGCTG to CCTGGGCTGCTGCATACTGGGCTGCTG at 155905096 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101209 (fasta)

Gene Model

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

AlphaFold

Q6NXL5

Predicted Effect

probably benign
Transcript: ENSMUST00000079031

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033

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

probably benign
Transcript: ENSMUST00000105584

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757		probably benign	Het
Adamts9	A	G	6: 92,943,145	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232		probably benign	Het
Alk	A	G	17: 71,895,936	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926		probably benign	Het
Ano3	A	C	2: 110,697,036	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830		probably null	Het
Card6	T	C	15: 5,100,142	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432		probably benign	Het
Cyp8b1	A	T	9: 121,915,495	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831		probably benign	Het
Ercc6l2	A	T	13: 63,853,017	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Flvcr2	T	A	12: 85,747,186	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416		probably benign	Het
Gm4884	C	A	7: 41,040,809	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343		probably benign	Het
Kif18b	T	C	11: 102,912,366	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274		probably benign	Het
Lama1	C	A	17: 67,781,062	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836		probably null	Het
Lmna	A	G	3: 88,484,054	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260		probably null	Het
Mboat7	T	A	7: 3,691,857	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,275,966		probably benign	Het
Morc2a	T	A	11: 3,676,191	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356		probably null	Het
Myo10	T	A	15: 25,799,479	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032		probably benign	Het
Numa1	T	C	7: 101,999,780	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180		probably benign	Het
Rsrp1	T	A	4: 134,923,955	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388		probably null	Het
Six4	TG	T	12: 73,103,582		probably null	Het
Slc6a15	T	A	10: 103,400,216	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211		probably benign	Het
Sost	A	T	11: 101,964,132	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774		probably null	Het
Tcaf1	C	T	6: 42,679,173	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743		probably benign	Het
Tgfbr1	A	G	4: 47,353,354	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338	V220A	probably benign	Het
Zan	T	A	5: 137,391,720	Q4830L	unknown	Het

Other mutations in Acap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01025:Acap3	APN	4	155902219	missense	probably damaging	0.99
IGL01815:Acap3	APN	4	155902187	missense	probably damaging	1.00
IGL02104:Acap3	APN	4	155905085	missense	probably damaging	1.00
IGL02387:Acap3	APN	4	155902160	missense	probably damaging	1.00
IGL02544:Acap3	APN	4	155892410	missense	possibly damaging	0.93
IGL03124:Acap3	APN	4	155905033	missense	probably benign	0.00
IGL03052:Acap3	UTSW	4	155903358	missense	probably damaging	1.00
PIT4514001:Acap3	UTSW	4	155903378	missense	probably benign	0.00
R0207:Acap3	UTSW	4	155899424	missense	probably damaging	1.00
R0452:Acap3	UTSW	4	155902328	nonsense	probably null
R1110:Acap3	UTSW	4	155905399	splice site	probably null
R1387:Acap3	UTSW	4	155899480	missense	probably benign	0.06
R1475:Acap3	UTSW	4	155902821	missense	probably damaging	1.00
R1535:Acap3	UTSW	4	155896174	splice site	probably benign
R2136:Acap3	UTSW	4	155896912	missense	probably damaging	1.00
R2149:Acap3	UTSW	4	155905625	missense	probably damaging	1.00
R2218:Acap3	UTSW	4	155903862	splice site	probably null
R2897:Acap3	UTSW	4	155904931	splice site	probably null
R2898:Acap3	UTSW	4	155903459	missense	possibly damaging	0.88
R2898:Acap3	UTSW	4	155904931	splice site	probably null
R3008:Acap3	UTSW	4	155905682	missense	probably benign	0.37
R4170:Acap3	UTSW	4	155900001	missense	possibly damaging	0.85
R4193:Acap3	UTSW	4	155901777	missense	probably benign	0.07
R4822:Acap3	UTSW	4	155902451	intron	probably benign
R4882:Acap3	UTSW	4	155905655	missense	probably damaging	0.99
R5482:Acap3	UTSW	4	155900156	missense	probably benign	0.00
R5655:Acap3	UTSW	4	155896619	missense	probably benign	0.22
R5769:Acap3	UTSW	4	155902400	missense	probably damaging	0.99
R5943:Acap3	UTSW	4	155899422	missense	possibly damaging	0.78
R6236:Acap3	UTSW	4	155905207	missense	possibly damaging	0.91
R6259:Acap3	UTSW	4	155896118	missense	possibly damaging	0.91
R6790:Acap3	UTSW	4	155902991	missense	probably damaging	1.00
R7000:Acap3	UTSW	4	155903849	missense	possibly damaging	0.79
R7352:Acap3	UTSW	4	155905711	missense	possibly damaging	0.56
R7442:Acap3	UTSW	4	155905621	missense	probably damaging	0.98
R8722:Acap3	UTSW	4	155905958	makesense	probably null
R8810:Acap3	UTSW	4	155905712	missense	probably damaging	1.00
R8902:Acap3	UTSW	4	155905914	missense	possibly damaging	0.67
R9182:Acap3	UTSW	4	155905435	missense	probably damaging	1.00
R9255:Acap3	UTSW	4	155905688	missense	probably benign	0.07
RF008:Acap3	UTSW	4	155905098	small insertion	probably benign
RF010:Acap3	UTSW	4	155905096	small insertion	probably benign
RF022:Acap3	UTSW	4	155905096	small insertion	probably benign
RF025:Acap3	UTSW	4	155905102	small insertion	probably benign
RF028:Acap3	UTSW	4	155905091	small insertion	probably benign
RF032:Acap3	UTSW	4	155905102	small insertion	probably benign
RF034:Acap3	UTSW	4	155905092	small insertion	probably benign
RF035:Acap3	UTSW	4	155905091	small insertion	probably benign
RF036:Acap3	UTSW	4	155905087	small insertion	probably benign
RF038:Acap3	UTSW	4	155905092	small insertion	probably benign
RF039:Acap3	UTSW	4	155905092	small insertion	probably benign
RF041:Acap3	UTSW	4	155905100	small insertion	probably benign
RF064:Acap3	UTSW	4	155905100	small insertion	probably benign
Z1176:Acap3	UTSW	4	155905179	missense	probably damaging	1.00
Z1177:Acap3	UTSW	4	155905518	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCAGATGTTCTTGCCTTCG -3'
(R):5'- CACACGTAGGTATGCAGTCTTG -3'

Sequencing Primer
(F):5'- AGTGGTGGACAGTGTCACC -3'
(R):5'- GTTTTTCATATAAGCCCTGCCTGTG -3'

Posted On

2019-12-04