Mutagenetix > Incidental Mutation

Incidental Mutation 'R2136:Acap3'

235796

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

040139-MU

Accession Numbers

Essential gene?

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

Stock #

R2136 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155976332-155991708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155981369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 85 (L85P)

Ref Sequence

ENSEMBL: ENSMUSP00000078040 (fasta)

Gene Model

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

AlphaFold

Q6NXL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000079031
AA Change: L85P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: L85P

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 damaging
Transcript: ENSMUST00000105584
AA Change: L85P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: L85P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140902

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	G	16: 19,702,530 (GRCm39)		noncoding transcript	Het
Abca5	T	C	11: 110,210,658 (GRCm39)	T174A	probably benign	Het
Abcg3	G	A	5: 105,114,680 (GRCm39)	S279L	probably benign	Het
Adgrl3	A	G	5: 81,660,101 (GRCm39)	K290R	probably damaging	Het
Ankhd1	A	G	18: 36,780,674 (GRCm39)	T1909A	probably benign	Het
Asap1	T	C	15: 63,982,808 (GRCm39)	D832G	probably damaging	Het
Atp6v0a2	T	A	5: 124,795,552 (GRCm39)	L702Q	possibly damaging	Het
Bsn	A	G	9: 107,990,430 (GRCm39)	V1774A	probably damaging	Het
Cd209e	T	C	8: 3,903,248 (GRCm39)	E48G	probably benign	Het
Cdadc1	T	C	14: 59,805,493 (GRCm39)		probably null	Het
Cfap65	C	CA	1: 74,956,432 (GRCm39)		probably null	Het
Cln3	A	C	7: 126,181,971 (GRCm39)	S30R	probably benign	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Crb1	A	T	1: 139,265,163 (GRCm39)	V85E	probably benign	Het
Crocc	G	A	4: 140,760,265 (GRCm39)	R789W	probably damaging	Het
Cwh43	A	G	5: 73,572,397 (GRCm39)	I212V	probably benign	Het
Cyp2t4	C	A	7: 26,857,585 (GRCm39)	F391L	probably benign	Het
Dhx35	G	T	2: 158,673,781 (GRCm39)	R404L	probably damaging	Het
Disp1	A	G	1: 182,869,942 (GRCm39)	L826S	probably damaging	Het
Dync2h1	T	A	9: 7,122,772 (GRCm39)	E2061D	probably damaging	Het
Ep300	T	A	15: 81,524,648 (GRCm39)	Y1393N	unknown	Het
Fap	C	T	2: 62,354,551 (GRCm39)	G446D	possibly damaging	Het
Fat3	A	G	9: 16,288,347 (GRCm39)	I392T	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glipr1l1	T	C	10: 111,896,381 (GRCm39)	V56A	probably damaging	Het
Grsf1	A	G	5: 88,820,517 (GRCm39)	V7A	probably benign	Het
Hmcn1	G	A	1: 150,509,410 (GRCm39)	A3646V	probably damaging	Het
Ipo9	A	T	1: 135,322,023 (GRCm39)	I569N	probably damaging	Het
Irs1	G	T	1: 82,267,763 (GRCm39)	P151Q	probably damaging	Het
Kalrn	T	C	16: 34,128,094 (GRCm39)	D491G	possibly damaging	Het
Kctd7	T	C	5: 130,181,207 (GRCm39)	L210P	probably damaging	Het
Lifr	C	A	15: 7,211,338 (GRCm39)	D625E	possibly damaging	Het
Lrguk	T	C	6: 34,020,454 (GRCm39)	V201A	probably benign	Het
Mark1	A	G	1: 184,651,770 (GRCm39)	V135A	probably damaging	Het
Mical2	T	A	7: 111,870,722 (GRCm39)	D70E	possibly damaging	Het
Mrc1	T	C	2: 14,275,000 (GRCm39)	Y434H	probably damaging	Het
Myh10	C	A	11: 68,695,540 (GRCm39)	Q1556K	probably damaging	Het
Nav1	G	A	1: 135,382,174 (GRCm39)	T1400I	probably null	Het
Or1j11	A	G	2: 36,311,950 (GRCm39)	D180G	probably damaging	Het
Or2a7	A	G	6: 43,151,435 (GRCm39)	K172E	probably benign	Het
Or4b13	A	C	2: 90,082,597 (GRCm39)	V245G	probably damaging	Het
Or4f4b	T	C	2: 111,313,961 (GRCm39)	V62A	probably damaging	Het
Or4p7	T	A	2: 88,221,663 (GRCm39)	I24N	probably benign	Het
Or5d43	T	C	2: 88,104,584 (GRCm39)	K270E	probably damaging	Het
Or5e1	G	A	7: 108,354,430 (GRCm39)	M122I	possibly damaging	Het
Osmr	T	A	15: 6,881,943 (GRCm39)	Q67L	probably damaging	Het
Pan2	T	G	10: 128,149,506 (GRCm39)	V522G	possibly damaging	Het
Pard3	T	G	8: 128,103,366 (GRCm39)		probably null	Het
Pcdhgc5	G	T	18: 37,953,166 (GRCm39)	A147S	possibly damaging	Het
Pcsk9	T	C	4: 106,303,967 (GRCm39)	I506V	probably benign	Het
Polr3d	GCCCCC	GCCCC	14: 70,680,487 (GRCm39)		probably null	Het
Prdm4	G	A	10: 85,729,215 (GRCm39)	R731*	probably null	Het
Prdx6b	T	A	2: 80,123,507 (GRCm39)	D105E	probably damaging	Het
Prss3b	A	G	6: 41,012,396 (GRCm39)	F6S	probably benign	Het
Rab42	A	G	4: 132,029,790 (GRCm39)	L144P	probably damaging	Het
Ralbp1	T	A	17: 66,171,661 (GRCm39)	K104M	probably damaging	Het
Resf1	T	A	6: 149,230,320 (GRCm39)	I1122K	probably benign	Het
Rrp12	A	G	19: 41,881,038 (GRCm39)	V131A	probably damaging	Het
Sbno1	C	T	5: 124,525,597 (GRCm39)		probably null	Het
Sbno2	A	T	10: 79,898,527 (GRCm39)	I645N	probably damaging	Het
Scfd2	T	C	5: 74,367,028 (GRCm39)	K624R	probably benign	Het
Sgk2	C	A	2: 162,841,099 (GRCm39)		probably null	Het
Sirt4	A	G	5: 115,617,760 (GRCm39)	S299P	probably benign	Het
Skic3	T	C	13: 76,321,473 (GRCm39)	S1322P	possibly damaging	Het
Slit2	C	T	5: 48,461,567 (GRCm39)	A1521V	probably benign	Het
Socs7	T	G	11: 97,263,933 (GRCm39)	V275G	possibly damaging	Het
Spink11	G	A	18: 44,323,554 (GRCm39)	P102S	probably benign	Het
Tacc3	A	G	5: 33,828,748 (GRCm39)	N534D	probably damaging	Het
Tas2r115	T	C	6: 132,714,309 (GRCm39)	Y214C	probably damaging	Het
Tcaf1	A	T	6: 42,650,454 (GRCm39)	M875K	probably benign	Het
Ttc22	T	A	4: 106,479,869 (GRCm39)	L41Q	possibly damaging	Het
Vasn	T	A	16: 4,467,659 (GRCm39)	C535*	probably null	Het
Vcan	T	A	13: 89,837,856 (GRCm39)	I2563F	probably damaging	Het
Vmn2r63	T	G	7: 42,576,297 (GRCm39)	Q505H	probably damaging	Het
Vmn2r65	T	G	7: 84,592,781 (GRCm39)	Q475H	probably damaging	Het
Zbtb43	T	C	2: 33,344,532 (GRCm39)	Y231C	probably damaging	Het
Zfp292	A	G	4: 34,810,266 (GRCm39)	V931A	probably benign	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
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
R7000:Acap3	UTSW	4	155,988,306 (GRCm39)	missense	possibly damaging	0.79
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'- AGATCATGAGCATTGGGTGG -3'
(R):5'- ACATAGTCTGGTCACAGCTGGG -3'

Sequencing Primer
(F):5'- GTGGTCTGCGCTCTTCTTCAATAC -3'
(R):5'- GCTCCCATGACTCTAGGTTAAAGAG -3'

Posted On

2014-10-01