Mutagenetix > Incidental Mutation

Incidental Mutation 'R2149:Acap3'

234086

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

040152-MU

Accession Numbers

Essential gene?

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

Stock #

R2149 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155976332-155991708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155990082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 750 (L750R)

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: L750R

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

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: L750R

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: L754R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: L754R

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: ENSMUST00000131372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145654

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,203,335 (GRCm39)	E414G	probably benign	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Abca13	A	G	11: 9,217,508 (GRCm39)	T317A	possibly damaging	Het
Anapc7	T	A	5: 122,581,889 (GRCm39)	S511T	probably benign	Het
Anp32a	T	A	9: 62,279,084 (GRCm39)	F46Y	probably benign	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arid2	T	C	15: 96,268,716 (GRCm39)	I943T	probably damaging	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Btnl6	T	C	17: 34,733,321 (GRCm39)	N218S	possibly damaging	Het
Capn11	T	C	17: 45,944,033 (GRCm39)		probably null	Het
Clcnkb	C	T	4: 141,135,328 (GRCm39)	G470D	probably damaging	Het
Clic6	T	A	16: 92,296,095 (GRCm39)	S252T	probably benign	Het
Col28a1	T	C	6: 8,155,383 (GRCm39)	K318E	possibly damaging	Het
Col5a3	A	T	9: 20,682,566 (GRCm39)	V1626D	unknown	Het
Col6a4	C	A	9: 105,954,128 (GRCm39)	A404S	probably benign	Het
Cyp2j5	G	T	4: 96,529,577 (GRCm39)	H265N	possibly damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ecrg4	A	G	1: 43,781,496 (GRCm39)	D126G	probably damaging	Het
Emilin2	T	C	17: 71,580,987 (GRCm39)	S580G	probably benign	Het
Fbn2	C	A	18: 58,235,397 (GRCm39)		probably null	Het
Gfm1	T	C	3: 67,381,893 (GRCm39)	L693P	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gpha2	A	G	19: 6,277,012 (GRCm39)	T38A	probably damaging	Het
Gtf2h3	T	C	5: 124,737,848 (GRCm39)		probably benign	Het
Hmgxb3	T	C	18: 61,290,746 (GRCm39)	T376A	probably benign	Het
Hspa12b	A	G	2: 130,984,977 (GRCm39)	D416G	probably damaging	Het
Immt	C	T	6: 71,821,659 (GRCm39)	R28*	probably null	Het
Iqgap1	T	C	7: 80,412,308 (GRCm39)	Y180C	probably damaging	Het
Kcnq3	T	A	15: 65,895,578 (GRCm39)	D322V	probably damaging	Het
Kifc2	C	A	15: 76,546,421 (GRCm39)	L268I	probably benign	Het
Lama1	T	C	17: 68,080,860 (GRCm39)	M1296T	possibly damaging	Het
Lipk	A	G	19: 33,999,017 (GRCm39)	N104S	possibly damaging	Het
Lrrc14b	T	A	13: 74,511,876 (GRCm39)	N68I	possibly damaging	Het
Lrrc28	A	T	7: 67,181,430 (GRCm39)	D268E	probably damaging	Het
Ly6c2	T	C	15: 74,980,392 (GRCm39)	*132W	probably null	Het
Msh6	A	G	17: 88,293,516 (GRCm39)	E757G	probably damaging	Het
Mtss2	T	C	8: 111,453,015 (GRCm39)	V47A	possibly damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Nalcn	A	T	14: 123,607,429 (GRCm39)	I680N	probably benign	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Odr4	A	T	1: 150,264,310 (GRCm39)	N66K	probably benign	Het
Oosp2	A	T	19: 11,626,978 (GRCm39)	L17*	probably null	Het
Or10a5	A	T	7: 106,635,545 (GRCm39)	Y61F	possibly damaging	Het
Or13a28	C	T	7: 140,217,965 (GRCm39)	T117M	probably damaging	Het
Or8b48	T	C	9: 38,492,804 (GRCm39)	V77A	probably benign	Het
Or9i2	A	C	19: 13,815,946 (GRCm39)	V197G	probably damaging	Het
Pacc1	T	G	1: 191,077,306 (GRCm39)	F210V	probably benign	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pde4dip	T	A	3: 97,700,152 (GRCm39)	Q300L	possibly damaging	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pira2	G	A	7: 3,847,170 (GRCm39)	P124L	probably damaging	Het
Plpp4	C	T	7: 128,981,095 (GRCm39)	T157I	probably benign	Het
Polrmt	G	A	10: 79,576,109 (GRCm39)	Q545*	probably null	Het
Ptprs	A	G	17: 56,724,706 (GRCm39)	F1511L	probably damaging	Het
Sbno1	T	C	5: 124,540,182 (GRCm39)		probably null	Het
Setd1a	T	A	7: 127,385,690 (GRCm39)	V256D	possibly damaging	Het
Slamf1	T	C	1: 171,594,840 (GRCm39)	S16P	probably damaging	Het
Slc16a14	T	C	1: 84,885,120 (GRCm39)	D473G	probably damaging	Het
Slc8a2	A	T	7: 15,893,089 (GRCm39)	H917L	probably damaging	Het
Sorbs2	A	C	8: 46,248,480 (GRCm39)	D442A	probably damaging	Het
Srp68	G	T	11: 116,151,693 (GRCm39)	T301K	possibly damaging	Het
Stab2	A	T	10: 86,700,904 (GRCm39)	C457*	probably null	Het
Stk31	T	G	6: 49,416,152 (GRCm39)	S652R	possibly damaging	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Tbc1d9	G	A	8: 83,998,078 (GRCm39)	E1212K	probably damaging	Het
Thada	C	T	17: 84,749,192 (GRCm39)	R593Q	probably damaging	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tmem132c	T	A	5: 127,540,026 (GRCm39)	W351R	probably damaging	Het
Trim10	C	T	17: 37,187,906 (GRCm39)	A374V	probably benign	Het
Try10	T	C	6: 41,333,495 (GRCm39)	V80A	probably benign	Het
Ttn	T	C	2: 76,559,707 (GRCm39)	T29565A	possibly damaging	Het
Uggt2	G	T	14: 119,312,757 (GRCm39)	Q351K	probably benign	Het
Vmn1r120	A	T	7: 20,786,889 (GRCm39)	V274D	probably damaging	Het
Vmn1r62	A	T	7: 5,678,358 (GRCm39)	H13L	probably benign	Het
Vmn2r101	C	T	17: 19,809,225 (GRCm39)	T118I	probably benign	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Xpa	T	C	4: 46,183,189 (GRCm39)	E200G	probably damaging	Het
Zc3h12a	C	T	4: 125,020,435 (GRCm39)	R136K	possibly damaging	Het
Zc3hav1	T	C	6: 38,313,472 (GRCm39)	H191R	probably damaging	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	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
R2136:Acap3	UTSW	4	155,981,369 (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'- AACCAAAGAGACAGCCTTGG -3'
(R):5'- ACTGCAGCTCTGTAGGACTG -3'

Sequencing Primer
(F):5'- AGACAGCCTTGGCCGGG -3'
(R):5'- AGCTCTGTAGGACTGCTGCC -3'

Posted On

2014-10-01