Mutagenetix > Incidental Mutation

Incidental Mutation 'R4852:Acap1'

373646

Institutional Source

Beutler Lab

Gene Symbol

Acap1

Ensembl Gene

ENSMUSG00000001588

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 1

Synonyms

Centb1

MMRRC Submission

042464-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4852 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69772393-69786365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 69775202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 354 (V354M)

Ref Sequence

ENSEMBL: ENSMUSP00000104262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000050555] [ENSMUST00000108622]

AlphaFold

Q8K2H4

Predicted Effect

probably benign
Transcript: ENSMUST00000001631
AA Change: V542M

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: V542M

Domain	Start	End	E-Value	Type
Pfam:BAR_3	5	240	2.1e-68	PFAM
PH	266	362	4.42e-15	SMART
ArfGap	405	527	2.42e-50	SMART
ANK	606	635	4.01e0	SMART
ANK	639	668	3.04e0	SMART
ANK	672	702	4.18e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050555

SMART Domains

Protein: ENSMUSP00000059107
Gene: ENSMUSG00000046731

Domain	Start	End	E-Value	Type
Pfam:BTB_2	1	73	1.8e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108622
AA Change: V354M

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: V354M

Domain	Start	End	E-Value	Type
PH	78	174	4.42e-15	SMART
ArfGap	217	339	2.42e-50	SMART
ANK	418	447	4.01e0	SMART
ANK	451	480	3.04e0	SMART
ANK	484	514	4.18e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148037

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198919

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4921524L21Rik	C	G	18: 6,623,487 (GRCm39)	L66V	possibly damaging	Het
4921524L21Rik	T	A	18: 6,623,488 (GRCm39)	L66Q	probably damaging	Het
Abca6	A	G	11: 110,135,029 (GRCm39)	V252A	probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Accs	T	C	2: 93,674,605 (GRCm39)	D99G	probably damaging	Het
Adam9	T	C	8: 25,493,317 (GRCm39)	Y97C	probably damaging	Het
Akap6	T	C	12: 53,151,458 (GRCm39)	V1174A	probably damaging	Het
Aknad1	C	A	3: 108,659,056 (GRCm39)	D23E	probably damaging	Het
Ano2	T	C	6: 125,959,886 (GRCm39)	C666R	possibly damaging	Het
Atp4a	G	A	7: 30,423,693 (GRCm39)	A933T	probably benign	Het
Atxn2	T	C	5: 121,952,474 (GRCm39)	L224P	probably damaging	Het
Bin2	T	C	15: 100,543,169 (GRCm39)	E338G	probably damaging	Het
Bloc1s5	T	C	13: 38,818,960 (GRCm39)	K20E	probably damaging	Het
Bst1	A	T	5: 43,977,867 (GRCm39)	D72V	probably benign	Het
Cacna1i	T	C	15: 80,272,680 (GRCm39)	F1631L	probably damaging	Het
Capn13	GCA	G	17: 73,658,501 (GRCm39)		probably null	Het
Cfap43	A	G	19: 47,885,550 (GRCm39)	I355T	possibly damaging	Het
Chuk	A	T	19: 44,077,197 (GRCm39)	M383K	possibly damaging	Het
Cnga4	A	G	7: 105,054,937 (GRCm39)	I174V	probably benign	Het
Cpd	T	C	11: 76,675,976 (GRCm39)	K1226E	probably benign	Het
Crip2	T	C	12: 113,104,204 (GRCm39)	C5R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,305 (GRCm39)	D358V	probably damaging	Het
Ebag9	T	C	15: 44,487,915 (GRCm39)	F21S	probably damaging	Het
Ercc1	A	T	7: 19,084,629 (GRCm39)	H70L	probably damaging	Het
Exoc3	G	A	13: 74,347,764 (GRCm39)	R69C	probably damaging	Het
Fgfr4	A	T	13: 55,308,969 (GRCm39)	R363S	possibly damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,434 (GRCm39)		probably benign	Het
Gphn	G	A	12: 78,673,984 (GRCm39)	V526M	probably damaging	Het
Gpr152	G	A	19: 4,193,790 (GRCm39)	V444I	probably benign	Het
Gss	T	C	2: 155,406,785 (GRCm39)	E330G	probably benign	Het
Hbs1l	A	G	10: 21,234,287 (GRCm39)	D556G	possibly damaging	Het
Helz2	T	C	2: 180,871,913 (GRCm39)	T2619A	probably damaging	Het
Hk3	A	G	13: 55,160,409 (GRCm39)	F304L	probably damaging	Het
Itgad	A	T	7: 127,797,702 (GRCm39)	N906Y	probably damaging	Het
Jakmip2	T	C	18: 43,710,465 (GRCm39)	E246G	probably damaging	Het
L3mbtl4	A	T	17: 68,866,748 (GRCm39)	H329L	probably damaging	Het
Mau2	A	G	8: 70,485,827 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,423,474 (GRCm39)	L270P	probably damaging	Het
Naa25	T	C	5: 121,568,755 (GRCm39)	S606P	probably damaging	Het
Nags	T	A	11: 102,037,447 (GRCm39)	C179*	probably null	Het
Naip2	A	G	13: 100,298,044 (GRCm39)	M664T	probably benign	Het
Ndufv3	T	C	17: 31,747,043 (GRCm39)	I311T	probably benign	Het
Nipsnap1	G	T	11: 4,841,468 (GRCm39)	E258*	probably null	Het
Nudc	A	G	4: 133,261,660 (GRCm39)	L208P	probably damaging	Het
Or1e32	T	C	11: 73,705,074 (GRCm39)	Y278C	probably benign	Het
Or51a39	A	T	7: 102,362,750 (GRCm39)	V290E	probably damaging	Het
Oscp1	A	G	4: 125,970,652 (GRCm39)	D137G	possibly damaging	Het
Pcdhb5	C	T	18: 37,455,524 (GRCm39)	P635S	probably benign	Het
Pcdhgb2	T	A	18: 37,825,103 (GRCm39)	I698N	probably damaging	Het
Pde4b	A	G	4: 102,454,967 (GRCm39)	Y399C	probably damaging	Het
Pdf	A	T	8: 107,774,812 (GRCm39)	V140E	probably damaging	Het
Pglyrp2	T	C	17: 32,634,823 (GRCm39)	N513S	probably benign	Het
Ranbp2	T	A	10: 58,312,878 (GRCm39)	D1199E	possibly damaging	Het
Rell2	G	T	18: 38,089,621 (GRCm39)		probably null	Het
Rgl2	A	G	17: 34,156,147 (GRCm39)	H745R	probably benign	Het
Rnf121	A	G	7: 101,672,592 (GRCm39)	C264R	probably damaging	Het
Rnf181	A	G	6: 72,338,499 (GRCm39)	F3S	probably damaging	Het
Rsrc1	T	A	3: 67,262,935 (GRCm39)	D296E	probably damaging	Het
Rubcn	A	T	16: 32,663,678 (GRCm39)	D319E	probably damaging	Het
Scaf8	T	C	17: 3,228,494 (GRCm39)	S431P	unknown	Het
Septin11	T	A	5: 93,310,112 (GRCm39)	M305K	possibly damaging	Het
Serpinb12	A	G	1: 106,884,132 (GRCm39)	K293E	probably benign	Het
Sh3bp1	T	A	15: 78,788,538 (GRCm39)	H229Q	probably benign	Het
Slco4c1	G	A	1: 96,768,953 (GRCm39)	P303L	probably damaging	Het
Specc1	T	A	11: 62,102,510 (GRCm39)	V952E	probably damaging	Het
Spint2	G	A	7: 28,956,211 (GRCm39)	T158I	probably benign	Het
St8sia4	A	T	1: 95,588,623 (GRCm39)	W71R	probably damaging	Het
Tex48	C	T	4: 63,530,151 (GRCm39)	V23I	possibly damaging	Het
Tmc5	G	A	7: 118,244,562 (GRCm39)	G480D	probably benign	Het
Tmem8b	T	A	4: 43,689,713 (GRCm39)	M330K	probably damaging	Het
Tnrc18	C	T	5: 142,717,095 (GRCm39)	R2453Q	probably damaging	Het
Trank1	A	T	9: 111,220,963 (GRCm39)	N2567Y	possibly damaging	Het
Trps1	T	C	15: 50,709,705 (GRCm39)	D211G	probably damaging	Het
Ttn	T	C	2: 76,555,503 (GRCm39)	R30501G	probably damaging	Het
Ttn	T	A	2: 76,573,247 (GRCm39)	Y25882F	probably damaging	Het
Unc79	T	A	12: 103,139,725 (GRCm39)	V2495E	probably damaging	Het
Uqcr10	T	A	11: 4,652,198 (GRCm39)	H58L	possibly damaging	Het
Usp7	A	T	16: 8,574,708 (GRCm39)	C58*	probably null	Het
Vmn1r36	A	T	6: 66,693,872 (GRCm39)	M1K	probably null	Het
Wdr7	T	A	18: 63,911,020 (GRCm39)	M804K	probably damaging	Het
Zfp131	A	C	13: 120,250,394 (GRCm39)		probably null	Het
Zfp507	A	G	7: 35,493,480 (GRCm39)	V521A	probably benign	Het

Other mutations in Acap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00325:Acap1	APN	11	69,773,517 (GRCm39)	missense	possibly damaging	0.95
IGL01148:Acap1	APN	11	69,781,729 (GRCm39)	nonsense	probably null
IGL01398:Acap1	APN	11	69,772,548 (GRCm39)	missense	probably damaging	1.00
IGL01583:Acap1	APN	11	69,772,503 (GRCm39)	missense	probably damaging	1.00
IGL02002:Acap1	APN	11	69,775,286 (GRCm39)	missense	probably damaging	1.00
IGL02078:Acap1	APN	11	69,786,112 (GRCm39)	missense	probably damaging	1.00
IGL02083:Acap1	APN	11	69,780,336 (GRCm39)	missense	possibly damaging	0.74
IGL02535:Acap1	APN	11	69,773,520 (GRCm39)	missense	probably benign	0.02
IGL02669:Acap1	APN	11	69,785,421 (GRCm39)	unclassified	probably benign
IGL03125:Acap1	APN	11	69,777,864 (GRCm39)	missense	probably damaging	1.00
autobot	UTSW	11	69,772,548 (GRCm39)	missense	probably damaging	1.00
Drone	UTSW	11	69,781,297 (GRCm39)	missense	probably benign	0.21
R0127:Acap1	UTSW	11	69,778,043 (GRCm39)	splice site	probably benign
R0243:Acap1	UTSW	11	69,776,252 (GRCm39)	missense	probably damaging	0.98
R0604:Acap1	UTSW	11	69,775,451 (GRCm39)	missense	probably benign	0.01
R0863:Acap1	UTSW	11	69,777,882 (GRCm39)	missense	probably damaging	0.98
R1331:Acap1	UTSW	11	69,773,202 (GRCm39)	splice site	probably null
R1911:Acap1	UTSW	11	69,772,548 (GRCm39)	missense	probably damaging	1.00
R1994:Acap1	UTSW	11	69,780,324 (GRCm39)	missense	probably benign	0.41
R2411:Acap1	UTSW	11	69,776,311 (GRCm39)	missense	probably damaging	1.00
R2442:Acap1	UTSW	11	69,780,317 (GRCm39)	missense	possibly damaging	0.46
R2910:Acap1	UTSW	11	69,777,902 (GRCm39)	splice site	probably benign
R4164:Acap1	UTSW	11	69,780,863 (GRCm39)	missense	probably benign	0.22
R4223:Acap1	UTSW	11	69,774,511 (GRCm39)	missense	probably damaging	0.99
R4562:Acap1	UTSW	11	69,776,177 (GRCm39)	intron	probably benign
R4676:Acap1	UTSW	11	69,780,294 (GRCm39)	missense	probably benign	0.22
R4921:Acap1	UTSW	11	69,778,019 (GRCm39)	missense	probably damaging	0.98
R4928:Acap1	UTSW	11	69,776,641 (GRCm39)	missense	possibly damaging	0.81
R5536:Acap1	UTSW	11	69,780,133 (GRCm39)	missense	probably benign	0.11
R5886:Acap1	UTSW	11	69,775,162 (GRCm39)	missense	probably benign
R6053:Acap1	UTSW	11	69,777,896 (GRCm39)	critical splice acceptor site	probably null
R6196:Acap1	UTSW	11	69,777,893 (GRCm39)	missense	probably damaging	0.98
R6220:Acap1	UTSW	11	69,780,505 (GRCm39)	missense	probably damaging	0.99
R6295:Acap1	UTSW	11	69,781,413 (GRCm39)	critical splice donor site	probably null
R6333:Acap1	UTSW	11	69,774,427 (GRCm39)	missense	possibly damaging	0.65
R6414:Acap1	UTSW	11	69,775,162 (GRCm39)	missense	probably benign
R6848:Acap1	UTSW	11	69,775,487 (GRCm39)	missense	probably damaging	1.00
R6952:Acap1	UTSW	11	69,776,343 (GRCm39)	missense	probably benign	0.30
R7243:Acap1	UTSW	11	69,781,297 (GRCm39)	missense	probably benign	0.21
R8066:Acap1	UTSW	11	69,780,689 (GRCm39)	missense	probably benign	0.05
R8691:Acap1	UTSW	11	69,781,003 (GRCm39)	missense	probably damaging	0.99
R8704:Acap1	UTSW	11	69,773,489 (GRCm39)	missense	possibly damaging	0.49
R9032:Acap1	UTSW	11	69,772,491 (GRCm39)	missense	probably damaging	1.00
R9233:Acap1	UTSW	11	69,775,484 (GRCm39)	missense	probably benign	0.00
R9397:Acap1	UTSW	11	69,775,672 (GRCm39)	missense	probably damaging	1.00
X0012:Acap1	UTSW	11	69,772,515 (GRCm39)	missense	probably damaging	1.00
X0027:Acap1	UTSW	11	69,772,549 (GRCm39)	missense	probably damaging	1.00
Z1177:Acap1	UTSW	11	69,773,269 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATGTCACACCCCACTGTG -3'
(R):5'- TCAACCAGATCTATGAGGCCC -3'

Sequencing Primer
(F):5'- ACTGTGACCTCCTGACTGTAC -3'
(R):5'- AGATCTATGAGGCCCGGGTG -3'

Posted On

2016-03-01