Mutagenetix > Incidental Mutations

Incidental Mutation 'RF034:Acap3'

604483

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

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

RF034 (G1)

Quality Score

217.8

Status

Not validated

Chromosome

Chromosomal Location

155891822-155907251 bp(+) (GRCm38)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

GCATCCTGGGCTGCT to GCATCCTGGGCTGCTACATCCTGGGCTGCT at 155905092 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: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	TTATTATGATTATTAC	3: 37,050,760		probably benign	Het
A030005L19Rik	TGTGGCTGC	TGTGGCTGCGGTGGCTGC	1: 82,913,580		probably benign	Het
Alpk3	GAGAAGGCAC	G	7: 81,092,414		probably benign	Het
Cox7a2l	GGA	GGATGGGGA	17: 83,502,722		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Cyb5r4	CCCAGGGATGTGACAGACACACTG	CCCAGGGATGTGACAGACACACTGACCAGGGATGTGACAGACACACTG	9: 87,040,417		probably benign	Het
Cyb5r4	GA	GATGTGACAGACACACTGCCCAGGTA	9: 87,040,447		probably null	Het
Defb22	TGCGGCA	TGCGGCAGGGCTGGCCTTTGCGGCA	2: 152,485,832		probably benign	Het
Dnmt1	GGGCGGAGCACAGTTCCTACCTCGTT	GGGCGGAGCACAGTTCCTACCTCGTTTTGGTGGCGGAGCACAGTTCCTACCTCGTT	9: 20,910,120		probably null	Het
Fam71e1	GGGTCTGAGGGAGGA	GGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCTAGGTCTGAGGGAGGA	7: 44,500,523		probably null	Het
Fbrsl1	GTG	GTGCGTGTGCTGTTG	5: 110,378,149		probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gabre	GCTC	GCTCTGTCTC	X: 72,270,762		probably benign	Het
Gm15155	CAA	CAACAACAAA	X: 156,345,640		probably null	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTAGAGATGGAGC	7: 68,226,176		probably benign	Het
Krtap28-10	CACCACAGC	CACCACAGCCACAGCGACCACAGC	1: 83,042,282		probably benign	Het
Mamld1	AGC	AGCGGC	X: 71,118,835		probably benign	Het
Map1a	CCAGCTCCAGCTCCA	CCAGCTCCAGCTCCAGCTACAGCTCCAGATACAGCTCCAGCTCCA	2: 121,306,304		probably benign	Het
Map1a	GCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCA	2: 121,306,307		probably benign	Het
Neu1	TCTTCTA	T	17: 34,932,558		probably benign	Het
Nolc1	CAGCAGC	CAGCAGCAGAAGCAGC	19: 46,081,371		probably benign	Het
Olfr850	G	T	9: 19,477,632	A206E	possibly damaging	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374		probably null	Het
Rassf6	CACTCATGGTCCTGTAGAGCAATGGGGATTC	CACTCATGGTCCTGTAGAGCAATGGGGATTCTGCCTGACTCATGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,912		probably benign	Het
Rassf6	ATGGTCCTGTAGAGCAATGGGGATTC	ATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTCGTGGTCCTGTAGAGCAATGGGGATTC	5: 90,608,917		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,608,923		probably benign	Het
Rpgrip1	AGAGGAGGA	AGA	14: 52,149,526		probably benign	Het
Rprd2	AGAGCCTGTGGTGCTCGCAGGGGAGGCTGTGGTGCTC	AGAGGCTGTGGTGCTC	3: 95,766,320		probably benign	Het
Rsf1	CG	CGAGG	7: 97,579,908		probably benign	Het
Rtbdn	GCGGC	GCGGCATCGGC	8: 84,956,175		probably benign	Het
Smarca2	CA	CACCAAGA	19: 26,631,011		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,097		probably benign	Het
Tfeb	CAG	CAGTAG	17: 47,786,098		probably null	Het
Tmed6	AGC	AGCTGGC	8: 107,061,596		probably null	Het
Tomm5	TCTTCCGC	TCTTCCGCAGCTTCCGC	4: 45,107,976		probably benign	Het
Trappc9	TG	TGATGCTGCTGCTGCGG	15: 72,801,298		probably benign	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
RF013: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
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'- TCTGATGGCAGTTCAGATGTTC -3'
(R):5'- TTTCATATAAGCCCTGCCTGTG -3'

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

Posted On

2019-12-04