Mutagenetix > Incidental Mutation

Incidental Mutation 'R9233:Acap1'

700369

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9233 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

69772393-69786365 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 69775484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 479 (V479A)

Ref Sequence

ENSEMBL: ENSMUSP00000001631 (fasta)

Gene Model

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

AlphaFold

Q8K2H4

Predicted Effect

probably benign
Transcript: ENSMUST00000001631
AA Change: V479A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588
AA Change: V479A

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: V291A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104262
Gene: ENSMUSG00000001588
AA Change: V291A

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	T	11: 110,082,496 (GRCm39)	T1159K	probably benign	Het
Actl11	A	G	9: 107,807,900 (GRCm39)	E741G	possibly damaging	Het
Anp32b	A	T	4: 46,463,909 (GRCm39)	I103F	probably damaging	Het
Ap4m1	C	T	5: 138,176,653 (GRCm39)	R418*	probably null	Het
Asic3	G	A	5: 24,618,837 (GRCm39)	R43H	probably damaging	Het
Bsn	A	G	9: 107,994,289 (GRCm39)	V662A	probably benign	Het
Cacna1a	C	T	8: 85,271,283 (GRCm39)	R479C	probably damaging	Het
Chchd3	A	T	6: 32,780,845 (GRCm39)	C214S	probably damaging	Het
Cspg4b	A	T	13: 113,502,754 (GRCm39)	Y100F		Het
Dock9	T	A	14: 121,820,781 (GRCm39)	T1538S	probably benign	Het
Dyrk1a	A	G	16: 94,466,913 (GRCm39)	M156V	probably benign	Het
Dzip1	T	C	14: 119,124,635 (GRCm39)	Q546R	probably benign	Het
Eef2	T	C	10: 81,014,668 (GRCm39)	V185A	probably benign	Het
Etv4	A	C	11: 101,662,532 (GRCm39)	V314G	probably damaging	Het
F5	T	A	1: 164,047,020 (GRCm39)	I2160N	probably damaging	Het
Fbp2	A	T	13: 62,989,622 (GRCm39)	V228E	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,519 (GRCm39)	Y444C	possibly damaging	Het
Fhip2a	T	A	19: 57,369,098 (GRCm39)	F360L	probably damaging	Het
Gcc1	A	G	6: 28,418,710 (GRCm39)	L541P	probably damaging	Het
Gemin4	A	G	11: 76,103,942 (GRCm39)	I273T	possibly damaging	Het
Gm32742	T	C	9: 51,056,387 (GRCm39)	K1193E	possibly damaging	Het
Gmps	C	T	3: 63,924,133 (GRCm39)	P687L	probably damaging	Het
Gpr162	A	G	6: 124,836,014 (GRCm39)	L462P	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hspa12b	T	C	2: 130,976,036 (GRCm39)	Y13H	probably damaging	Het
Kcnh8	A	C	17: 53,285,168 (GRCm39)	E1046A	probably damaging	Het
Kcnk12	T	A	17: 88,053,538 (GRCm39)	T375S	probably benign	Het
Kdm4a	A	G	4: 118,004,193 (GRCm39)		probably null	Het
Klhl5	G	T	5: 65,300,673 (GRCm39)	V219L	possibly damaging	Het
Kpna1	A	T	16: 35,853,793 (GRCm39)	E474D	probably damaging	Het
Lama5	A	T	2: 179,840,502 (GRCm39)	Y632*	probably null	Het
Lias	A	G	5: 65,551,331 (GRCm39)	N88S	probably benign	Het
Mei1	C	T	15: 81,973,752 (GRCm39)	R80C		Het
Mical2	T	G	7: 111,981,399 (GRCm39)	S458A	probably benign	Het
Mrps33	A	G	6: 39,782,447 (GRCm39)	S25P	probably benign	Het
Mttp	T	A	3: 137,822,280 (GRCm39)	D169V	probably damaging	Het
Npdc1	A	G	2: 25,296,329 (GRCm39)	E72G	probably damaging	Het
Nsrp1	G	A	11: 76,937,036 (GRCm39)	R387W	probably benign	Het
Pcnx4	A	G	12: 72,603,587 (GRCm39)	T503A	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigu	C	T	2: 155,178,610 (GRCm39)	V83I	possibly damaging	Het
Ppcs	G	A	4: 119,279,397 (GRCm39)	R52*	probably null	Het
Rbm33	A	G	5: 28,544,239 (GRCm39)	E165G	probably benign	Het
Rnf5	A	T	17: 34,822,326 (GRCm39)	V41E	possibly damaging	Het
Ror2	T	C	13: 53,265,590 (GRCm39)	T501A	probably benign	Het
Rps17	T	G	7: 80,993,497 (GRCm39)	M105L	probably benign	Het
Ryr2	A	T	13: 11,610,772 (GRCm39)	M4018K	possibly damaging	Het
Scarf1	A	G	11: 75,416,720 (GRCm39)	M721V	probably benign	Het
Scgb1b30	A	G	7: 33,799,184 (GRCm39)	T39A	probably damaging	Het
Selenoo	T	C	15: 88,984,044 (GRCm39)	V620A	probably damaging	Het
Slfn8	A	C	11: 82,894,422 (GRCm39)	I739R	probably damaging	Het
Smc6	A	G	12: 11,359,291 (GRCm39)	T972A	probably benign	Het
Spred1	G	A	2: 117,002,644 (GRCm39)	R221H	unknown	Het
Stag1	T	A	9: 100,812,024 (GRCm39)	M834K	probably benign	Het
Taf1a	T	C	1: 183,181,878 (GRCm39)	I177T	possibly damaging	Het
Tcam1	G	A	11: 106,175,018 (GRCm39)	D158N	probably benign	Het
Tcirg1	G	T	19: 3,952,543 (GRCm39)	T275K	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tor1b	A	C	2: 30,844,015 (GRCm39)	I151L	probably benign	Het
Trappc12	T	A	12: 28,772,414 (GRCm39)	Q471L	possibly damaging	Het
Trim28	G	A	7: 12,763,490 (GRCm39)	A544T	probably benign	Het
Ugt2a2	G	A	5: 87,613,272 (GRCm39)	P288S	probably damaging	Het
Vmn1r157	T	C	7: 22,461,381 (GRCm39)	L87P	probably damaging	Het
Vmn1r188	A	G	13: 22,272,399 (GRCm39)	R118G	probably benign	Het
Vps13d	G	A	4: 144,879,344 (GRCm39)	T1493I		Het
Xrra1	T	G	7: 99,516,574 (GRCm39)	M6R	probably benign	Het
Zfp142	T	C	1: 74,610,288 (GRCm39)	E1169G	probably benign	Het
Zfp738	G	T	13: 67,819,017 (GRCm39)	R325S	possibly damaging	Het
Zmym4	A	G	4: 126,776,310 (GRCm39)	M1209T	probably damaging	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
R4852:Acap1	UTSW	11	69,775,202 (GRCm39)	missense	probably benign	0.30
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
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'- TCCACATACTTGGCATGAATCC -3'
(R):5'- AGCCTCGGAGTTCATTTCTC -3'

Sequencing Primer
(F):5'- GCATGAATCCAGGCTTCCTTTTC -3'
(R):5'- GAGTTCATTTCTCCAAAGTCCG -3'

Posted On

2022-02-07