Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01815:Acap3'

154378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Acap3

Ensembl Gene

ENSMUSG00000029033

Gene Name

ArfGAP with coiled-coil, ankyrin repeat and PH domains 3

Synonyms

Centb5, Kiaa1716-hp

Accession Numbers

Essential gene?

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

Stock #

IGL01815

Quality Score

Status

Chromosome

Chromosomal Location

155976332-155991708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155986644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 324 (E324G)

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: E320G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078040
Gene: ENSMUSG00000029033
AA Change: E320G

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: E324G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101209
Gene: ENSMUSG00000029033
AA Change: E324G

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: ENSMUST00000131372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145654

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140902

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap20	T	A	9: 51,757,468 (GRCm39)	Y487N	probably damaging	Het
Babam2	C	T	5: 31,859,442 (GRCm39)	A3V	possibly damaging	Het
Fat4	T	C	3: 38,942,922 (GRCm39)	L605P	probably damaging	Het
Frmpd1	A	G	4: 45,284,239 (GRCm39)	H1020R	probably benign	Het
Ighv1-53	T	A	12: 115,122,217 (GRCm39)	M53L	probably benign	Het
Lepr	A	T	4: 101,671,987 (GRCm39)	I1004F	possibly damaging	Het
Limd1	T	C	9: 123,308,801 (GRCm39)	S167P	probably benign	Het
Lrrc10b	T	C	19: 10,434,117 (GRCm39)	D188G	probably damaging	Het
Nlrp4e	T	C	7: 23,020,863 (GRCm39)	L450P	probably benign	Het
Or56b1	T	A	7: 104,285,552 (GRCm39)	Y224N	probably damaging	Het
Or5b104	A	T	19: 13,073,020 (GRCm39)		probably null	Het
Or7e165	A	G	9: 19,695,311 (GRCm39)	N294S	probably damaging	Het
Or7g21	G	T	9: 19,032,622 (GRCm39)	D121Y	probably damaging	Het
P2ry13	T	C	3: 59,117,121 (GRCm39)	N219S	probably benign	Het
Pcnx1	A	G	12: 82,037,325 (GRCm39)	D1861G	probably damaging	Het
Phlpp2	A	G	8: 110,666,491 (GRCm39)	I1007V	probably benign	Het
Ppp2r1a	A	G	17: 21,177,094 (GRCm39)	N211D	probably benign	Het
Psmd5	A	T	2: 34,742,783 (GRCm39)	F440L	probably benign	Het
Rpe65	T	A	3: 159,310,167 (GRCm39)		probably null	Het
Utrn	T	C	10: 12,528,460 (GRCm39)	T2172A	probably benign	Het
Vwa8	C	T	14: 79,435,717 (GRCm39)	T1809M	possibly damaging	Het
Wdr70	C	T	15: 7,916,805 (GRCm39)		probably null	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
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
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

Posted On

2014-02-04