Mutagenetix > Incidental Mutation

Incidental Mutation 'R8810:Acap3'

672332

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R8810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155891822-155907251 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155905712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 783 (V783A)

Ref Sequence

ENSEMBL: ENSMUSP00000101209 (fasta)

Gene Model

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

AlphaFold

Q6NXL5

Predicted Effect

probably damaging
Transcript: ENSMUST00000079031
AA Change: V779A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: V779A

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: V783A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: V783A

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: 99.9%
20x: 99.6%

Validation Efficiency

99% (82/83)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	C	7: 79,099,704	S1408P	probably damaging	Het
Akap8	T	C	17: 32,306,530	N525S	probably damaging	Het
Aqp1	C	T	6: 55,336,621	T44M	probably damaging	Het
Arap1	T	C	7: 101,404,378	Y1305H	probably damaging	Het
Atg2a	T	G	19: 6,250,621	S743A	probably benign	Het
AW551984	G	T	9: 39,600,011	L133I	probably damaging	Het
Bahcc1	C	A	11: 120,273,761	P802T	possibly damaging	Het
Brd8	C	A	18: 34,609,949	V288L	probably benign	Het
Carmil2	T	C	8: 105,686,315		probably null	Het
Catspere2	G	A	1: 178,077,482	E153K	possibly damaging	Het
Ccdc162	C	T	10: 41,666,741	R379Q	probably benign	Het
Cdh16	A	G	8: 104,614,504	L116P	probably damaging	Het
Cenpj	A	T	14: 56,558,619	H260Q	possibly damaging	Het
Cenpq	A	G	17: 40,933,136	V17A	possibly damaging	Het
Cep350	T	C	1: 155,928,116	K1074E	probably damaging	Het
Chil4	C	A	3: 106,201,805	C394F	probably damaging	Het
Chst9	T	C	18: 15,717,926	I28V	probably benign	Het
Clasp2	C	A	9: 113,899,581	N873K	probably damaging	Het
Clec4b2	T	A	6: 123,181,310	M45K	probably benign	Het
Cmya5	T	A	13: 93,063,540	T3427S	possibly damaging	Het
Cnih4	A	G	1: 181,162,212	Y130C	probably damaging	Het
Cpne9	T	A	6: 113,304,545	M529K	probably damaging	Het
Ctsr	T	A	13: 61,161,825	Y190F	probably damaging	Het
Cyp2j13	G	A	4: 96,056,916	H351Y	probably benign	Het
Dixdc1	T	A	9: 50,701,965	Q230L	probably damaging	Het
Dpep1	A	T	8: 123,200,025	I226F	probably benign	Het
Ehd2	A	G	7: 15,957,678	V243A	probably benign	Het
Etnk2	T	A	1: 133,378,494	Y353N	probably benign	Het
Fgg	G	T	3: 83,013,015	G367V	probably damaging	Het
Gm11639	A	T	11: 104,914,895	N3076I	unknown	Het
Gm609	T	C	16: 45,443,836	T120A	probably benign	Het
Gm9772	T	C	17: 22,006,329	*61Q	probably null	Het
Grk5	T	G	19: 61,089,994	D496E	possibly damaging	Het
Hc	T	C	2: 35,019,523	N915S	probably benign	Het
Iah1	G	T	12: 21,317,387	Q31H	probably benign	Het
Insr	T	C	8: 3,169,714	D936G	probably benign	Het
Ints6	A	C	14: 62,702,453	V596G	probably benign	Het
Ispd	A	T	12: 36,390,482	N130Y	probably damaging	Het
Kcnj16	A	G	11: 111,024,851	D113G	possibly damaging	Het
Kdm4b	A	T	17: 56,399,771	I928F	probably damaging	Het
Lrrc41	C	T	4: 116,075,291		probably benign	Het
Lrrc8e	G	A	8: 4,235,070	V432I	probably benign	Het
Mamdc4	T	C	2: 25,568,489	E336G	probably benign	Het
Maml2	C	A	9: 13,621,622	Q711K		Het
Map3k14	T	C	11: 103,227,672	T563A	possibly damaging	Het
Mcu	T	A	10: 59,467,713	K101*	probably null	Het
Mettl22	T	A	16: 8,485,928	V286E	probably damaging	Het
Mon2	A	T	10: 123,009,611	N1396K	possibly damaging	Het
Mprip	T	C	11: 59,697,025		probably benign	Het
Mrpl51	C	T	6: 125,193,381	L117F	probably damaging	Het
Myo1d	C	A	11: 80,674,932	V356F	probably damaging	Het
Myo1d	T	A	11: 80,676,932	I241F	probably benign	Het
Naalad2	A	T	9: 18,385,934		probably benign	Het
Nacad	T	C	11: 6,602,853	T113A	probably benign	Het
Nrap	T	A	19: 56,364,411		probably benign	Het
Olfr1134	T	C	2: 87,656,247	I225V	possibly damaging	Het
Olfr1336	T	C	7: 6,460,764	L85P	probably damaging	Het
Olfr1358	G	A	10: 78,520,450	V281M	possibly damaging	Het
Olfr290	T	A	7: 84,916,418	I213N	possibly damaging	Het
Olfr30	T	C	11: 58,455,110	T280A	possibly damaging	Het
Olfr661	T	A	7: 104,688,180	I55N	probably damaging	Het
Osbpl3	T	C	6: 50,351,872	D117G	probably damaging	Het
Parp9	C	T	16: 35,953,611	R318*	probably null	Het
Pcdhb18	A	G	18: 37,490,321	I235V	probably benign	Het
Pex16	T	G	2: 92,379,021		probably benign	Het
Piezo2	T	A	18: 63,114,963	M489L	probably benign	Het
Pmepa1	C	A	2: 173,227,835	G271V	probably damaging	Het
Safb	A	G	17: 56,603,579	E659G	unknown	Het
Scn9a	T	C	2: 66,501,666	T1289A	probably damaging	Het
Secisbp2l	T	C	2: 125,775,676	D27G	possibly damaging	Het
Serpina1f	A	G	12: 103,693,981	V14A	probably benign	Het
Serpinb9b	C	A	13: 33,029,469	T3N	possibly damaging	Het
Sfxn5	C	T	6: 85,229,200	M315I	probably benign	Het
Slc9b2	A	G	3: 135,329,769	D333G	probably benign	Het
Sostdc1	A	G	12: 36,317,230	N135S	possibly damaging	Het
Spg11	T	G	2: 122,070,944	D1505A	probably damaging	Het
Taar7a	T	C	10: 23,993,381	N34S	probably benign	Het
Tcerg1l	C	A	7: 138,209,797	R556L	possibly damaging	Het
Tcp11l1	T	C	2: 104,688,418	K311R	probably benign	Het
Tepp	A	T	8: 95,321,255		probably benign	Het
Trbv16	T	G	6: 41,152,038	F52C	probably damaging	Het
Ttn	T	A	2: 76,895,672	R6073S	unknown	Het
Uba1y	T	C	Y: 828,818	I542T	possibly damaging	Het
Vmn1r214	T	C	13: 23,034,912	I192T	probably benign	Het
Vmn2r67	C	T	7: 85,137,138	C553Y	probably damaging	Het
Zdhhc17	G	T	10: 110,948,260	H452N	possibly damaging	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
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
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'- TGCACCATGCTACACTCTTGG -3'
(R):5'- ACTGCAGCTCTGTAGGACTG -3'

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

Posted On

2021-04-30