Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01432:Phactr3'

84207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phactr3

Ensembl Gene

ENSMUSG00000027525

Gene Name

phosphatase and actin regulator 3

Synonyms

4930415A02Rik, 1500003N10Rik, scapinin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL01432

Quality Score

Status

Chromosome

Chromosomal Location

177760768-177980285 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177924893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 276 (V276A)

Ref Sequence

ENSEMBL: ENSMUSP00000104544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103065] [ENSMUST00000103066] [ENSMUST00000108915] [ENSMUST00000108916] [ENSMUST00000108917]

AlphaFold

Q8BYK5

Predicted Effect

probably benign
Transcript: ENSMUST00000103065
AA Change: V240A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099354
Gene: ENSMUSG00000027525
AA Change: V240A

Domain	Start	End	E-Value	Type
low complexity region	35	48	N/A	INTRINSIC
RPEL	52	77	2.08e0	SMART
low complexity region	187	206	N/A	INTRINSIC
RPEL	360	385	5.1e-4	SMART
low complexity region	387	397	N/A	INTRINSIC
RPEL	398	423	3.24e-6	SMART
RPEL	436	461	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103066
AA Change: V280A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099355
Gene: ENSMUSG00000027525
AA Change: V280A

Domain	Start	End	E-Value	Type
low complexity region	17	33	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
RPEL	92	117	2.08e0	SMART
low complexity region	227	246	N/A	INTRINSIC
RPEL	400	425	5.1e-4	SMART
low complexity region	427	437	N/A	INTRINSIC
RPEL	438	463	3.24e-6	SMART
RPEL	476	501	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108915
AA Change: V281A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104543
Gene: ENSMUSG00000027525
AA Change: V281A

Domain	Start	End	E-Value	Type
low complexity region	76	89	N/A	INTRINSIC
RPEL	93	118	2.08e0	SMART
low complexity region	228	247	N/A	INTRINSIC
RPEL	401	426	5.1e-4	SMART
low complexity region	428	438	N/A	INTRINSIC
RPEL	439	464	3.24e-6	SMART
RPEL	477	502	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108916
AA Change: V276A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104544
Gene: ENSMUSG00000027525
AA Change: V276A

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
RPEL	88	113	2.08e0	SMART
low complexity region	223	242	N/A	INTRINSIC
RPEL	396	421	5.1e-4	SMART
low complexity region	423	433	N/A	INTRINSIC
RPEL	434	459	3.24e-6	SMART
RPEL	472	497	9.82e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108917
AA Change: V276A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104545
Gene: ENSMUSG00000027525
AA Change: V276A

Domain	Start	End	E-Value	Type
low complexity region	71	84	N/A	INTRINSIC
RPEL	88	113	2.08e0	SMART
low complexity region	223	242	N/A	INTRINSIC
RPEL	396	421	5.1e-4	SMART
low complexity region	423	433	N/A	INTRINSIC
RPEL	436	458	2.74e-4	SMART
RPEL	471	496	9.82e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh9a1	T	C	1: 167,183,354 (GRCm39)	S191P	probably damaging	Het
Aldoart2	A	T	12: 55,612,566 (GRCm39)	I164F	probably damaging	Het
Anapc1	C	A	2: 128,475,328 (GRCm39)	A1384S	probably damaging	Het
Arid5a	T	G	1: 36,358,514 (GRCm39)	S429A	possibly damaging	Het
Asxl1	A	G	2: 153,242,125 (GRCm39)	K892E	probably benign	Het
Bltp1	T	A	3: 37,057,908 (GRCm39)	V3166E	possibly damaging	Het
Bpnt1	G	A	1: 185,086,218 (GRCm39)	W261*	probably null	Het
Calu	A	G	6: 29,356,552 (GRCm39)	D26G	possibly damaging	Het
Ccdc113	C	T	8: 96,264,885 (GRCm39)		probably benign	Het
Cd109	T	C	9: 78,605,405 (GRCm39)	Y1003H	probably benign	Het
Cdh9	A	G	15: 16,831,033 (GRCm39)	K290R	probably damaging	Het
Cep131	G	A	11: 119,967,835 (GRCm39)	A140V	possibly damaging	Het
Cfap251	A	G	5: 123,418,015 (GRCm39)	I81M	possibly damaging	Het
Chn1	A	T	2: 73,462,096 (GRCm39)	C236S	probably damaging	Het
Cntn4	T	A	6: 106,655,295 (GRCm39)		probably benign	Het
Crispld1	A	T	1: 17,817,025 (GRCm39)	Q194L	probably benign	Het
Csmd3	A	G	15: 47,596,895 (GRCm39)	V1981A	probably damaging	Het
Cttn	A	G	7: 144,015,043 (GRCm39)	I55T	probably damaging	Het
Ddx46	G	T	13: 55,785,835 (GRCm39)		probably benign	Het
Diaph1	A	T	18: 38,030,557 (GRCm39)	I299N	unknown	Het
Dll1	A	G	17: 15,588,768 (GRCm39)	Y636H	probably damaging	Het
Eng	A	T	2: 32,559,544 (GRCm39)	Q111L	possibly damaging	Het
Exoc6	T	C	19: 37,578,324 (GRCm39)	V389A	possibly damaging	Het
Fbxw26	T	A	9: 109,547,043 (GRCm39)	T461S	probably benign	Het
Gbf1	T	C	19: 46,268,434 (GRCm39)	Y1269H	probably damaging	Het
Gm5852	A	G	3: 93,635,086 (GRCm39)	Y90H	possibly damaging	Het
Gnrhr	C	T	5: 86,330,052 (GRCm39)	G323R	probably damaging	Het
Gpr155	T	A	2: 73,182,229 (GRCm39)	E661D	possibly damaging	Het
Grik4	A	T	9: 42,432,472 (GRCm39)	C842S	probably damaging	Het
Iws1	A	G	18: 32,216,519 (GRCm39)		probably benign	Het
Kif5c	A	G	2: 49,591,089 (GRCm39)	T314A	probably damaging	Het
Klhdc1	A	C	12: 69,298,751 (GRCm39)	K112T	probably damaging	Het
Kmt2a	T	C	9: 44,720,393 (GRCm39)	T3865A	unknown	Het
Lgr5	T	C	10: 115,288,997 (GRCm39)	K477R	probably damaging	Het
Ly75	A	T	2: 60,206,351 (GRCm39)	L106Q	probably damaging	Het
Mcph1	T	A	8: 18,675,655 (GRCm39)	M26K	probably damaging	Het
Mettl2	T	C	11: 105,017,348 (GRCm39)	V9A	probably benign	Het
Mgat5b	A	G	11: 116,864,202 (GRCm39)	D456G	probably benign	Het
Mstn	A	G	1: 53,105,689 (GRCm39)	T344A	possibly damaging	Het
Npr1	T	A	3: 90,370,543 (GRCm39)	I308F	possibly damaging	Het
Oasl1	G	A	5: 115,075,466 (GRCm39)	V509M	probably benign	Het
Obscn	T	C	11: 58,924,583 (GRCm39)	M5727V	probably benign	Het
Or2d4	T	C	7: 106,543,748 (GRCm39)	I153M	possibly damaging	Het
Or4c114	T	A	2: 88,904,545 (GRCm39)	I297F	probably benign	Het
Or4k15c	T	A	14: 50,321,404 (GRCm39)	T245S	probably benign	Het
Or5an1c	A	G	19: 12,218,891 (GRCm39)	S45P	probably damaging	Het
Pcgf1	T	C	6: 83,055,398 (GRCm39)	I11T	possibly damaging	Het
Pla2g6	A	T	15: 79,202,168 (GRCm39)	M1K	probably null	Het
Plec	T	C	15: 76,074,728 (GRCm39)	E413G	probably damaging	Het
Plxna2	G	T	1: 194,326,626 (GRCm39)	A187S	possibly damaging	Het
Polq	A	T	16: 36,892,184 (GRCm39)		probably benign	Het
Pramel51	T	C	12: 88,143,202 (GRCm39)	K139E	probably benign	Het
Prss39	A	G	1: 34,541,216 (GRCm39)	D240G	probably benign	Het
Ptpn12	A	T	5: 21,203,553 (GRCm39)	Y408*	probably null	Het
Ptprt	A	G	2: 162,109,999 (GRCm39)		probably benign	Het
Rnf6	A	T	5: 146,152,931 (GRCm39)	S95T	possibly damaging	Het
Ryr2	T	C	13: 11,866,090 (GRCm39)	S287G	possibly damaging	Het
Samd4b	A	G	7: 28,113,491 (GRCm39)	F158S	possibly damaging	Het
Slco1a5	T	A	6: 142,182,012 (GRCm39)	I571L	possibly damaging	Het
Smchd1	T	C	17: 71,738,285 (GRCm39)	T527A	probably damaging	Het
Smg9	T	C	7: 24,120,691 (GRCm39)		probably null	Het
Snx25	A	G	8: 46,558,197 (GRCm39)	L270P	probably damaging	Het
Ssh1	G	T	5: 114,096,883 (GRCm39)	T165N	probably benign	Het
Stk24	T	A	14: 121,540,218 (GRCm39)	E127V	probably damaging	Het
Suco	A	G	1: 161,661,689 (GRCm39)	V914A	probably damaging	Het
Tbcd	T	A	11: 121,366,506 (GRCm39)		probably benign	Het
Tbcel	A	T	9: 42,355,817 (GRCm39)	L114Q	possibly damaging	Het
Trpm1	A	G	7: 63,884,767 (GRCm39)	D816G	probably benign	Het
Uhrf1	G	A	17: 56,625,250 (GRCm39)	V566M	probably damaging	Het
Ulk4	T	A	9: 121,095,367 (GRCm39)	E95D	probably damaging	Het
Vmn1r40	T	C	6: 89,691,201 (GRCm39)	M6T	probably benign	Het
Vmn2r59	C	T	7: 41,661,983 (GRCm39)	V611I	possibly damaging	Het
Vwde	G	T	6: 13,193,239 (GRCm39)	H367N	probably benign	Het
Xpo6	A	G	7: 125,723,553 (GRCm39)	V585A	probably benign	Het

Other mutations in Phactr3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Phactr3	APN	2	177,920,855 (GRCm39)	missense	probably benign	0.00
IGL01580:Phactr3	APN	2	177,911,297 (GRCm39)	splice site	probably benign
IGL02688:Phactr3	APN	2	177,920,792 (GRCm39)	missense	probably damaging	0.96
IGL02985:Phactr3	APN	2	177,817,250 (GRCm39)	missense	probably benign
PIT4151001:Phactr3	UTSW	2	177,975,861 (GRCm39)	missense	probably damaging	1.00
R1854:Phactr3	UTSW	2	177,924,940 (GRCm39)	missense	probably damaging	1.00
R2132:Phactr3	UTSW	2	177,925,759 (GRCm39)	missense	probably benign	0.14
R3110:Phactr3	UTSW	2	177,920,810 (GRCm39)	missense	possibly damaging	0.85
R3112:Phactr3	UTSW	2	177,920,810 (GRCm39)	missense	possibly damaging	0.85
R3122:Phactr3	UTSW	2	177,973,411 (GRCm39)	missense	probably damaging	1.00
R4193:Phactr3	UTSW	2	177,924,945 (GRCm39)	missense	probably damaging	0.98
R4194:Phactr3	UTSW	2	177,924,902 (GRCm39)	missense	possibly damaging	0.80
R4243:Phactr3	UTSW	2	177,924,982 (GRCm39)	splice site	probably null
R4245:Phactr3	UTSW	2	177,924,982 (GRCm39)	splice site	probably null
R4397:Phactr3	UTSW	2	177,817,199 (GRCm39)	intron	probably benign
R4433:Phactr3	UTSW	2	177,924,925 (GRCm39)	missense	probably damaging	1.00
R4581:Phactr3	UTSW	2	177,924,965 (GRCm39)	missense	probably damaging	1.00
R4772:Phactr3	UTSW	2	177,925,729 (GRCm39)	missense	probably damaging	1.00
R4830:Phactr3	UTSW	2	177,925,811 (GRCm39)	missense	probably damaging	0.98
R5045:Phactr3	UTSW	2	177,973,412 (GRCm39)	missense	probably damaging	1.00
R5442:Phactr3	UTSW	2	177,784,254 (GRCm39)	missense	probably benign	0.38
R5461:Phactr3	UTSW	2	177,920,694 (GRCm39)	missense	probably benign
R5816:Phactr3	UTSW	2	177,944,586 (GRCm39)	missense	probably damaging	1.00
R6276:Phactr3	UTSW	2	177,920,812 (GRCm39)	missense	probably damaging	0.99
R6668:Phactr3	UTSW	2	177,974,657 (GRCm39)	missense	probably damaging	1.00
R7144:Phactr3	UTSW	2	177,944,529 (GRCm39)	missense	probably damaging	1.00
R7340:Phactr3	UTSW	2	177,975,854 (GRCm39)	missense	probably damaging	1.00
R7798:Phactr3	UTSW	2	177,925,703 (GRCm39)	missense	probably benign	0.19
R8009:Phactr3	UTSW	2	177,974,737 (GRCm39)	missense	probably damaging	1.00
R8074:Phactr3	UTSW	2	177,944,589 (GRCm39)	missense	probably damaging	1.00
R8348:Phactr3	UTSW	2	177,897,935 (GRCm39)	missense	probably benign	0.03
R8530:Phactr3	UTSW	2	177,925,819 (GRCm39)	missense	probably damaging	1.00
R9077:Phactr3	UTSW	2	177,974,758 (GRCm39)	splice site	probably benign
R9153:Phactr3	UTSW	2	177,925,739 (GRCm39)	missense	possibly damaging	0.79
R9406:Phactr3	UTSW	2	177,925,856 (GRCm39)	missense	probably damaging	0.99
R9676:Phactr3	UTSW	2	177,925,837 (GRCm39)	nonsense	probably null
R9721:Phactr3	UTSW	2	177,898,043 (GRCm39)	missense	probably damaging	1.00
R9722:Phactr3	UTSW	2	177,898,043 (GRCm39)	missense	probably damaging	1.00
R9776:Phactr3	UTSW	2	177,975,896 (GRCm39)	missense	probably damaging	1.00
R9778:Phactr3	UTSW	2	177,924,805 (GRCm39)	missense	possibly damaging	0.73
Z1176:Phactr3	UTSW	2	177,911,167 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-11-11