Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Phactr4'

2428

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phactr4

Ensembl Gene

ENSMUSG00000066043

Gene Name

phosphatase and actin regulator 4

Synonyms

3110001B12Rik, C330013F19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

132355923-132422489 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 132370992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 322 (T322A)

Ref Sequence

ENSEMBL: ENSMUSP00000081270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084170] [ENSMUST00000084249] [ENSMUST00000102568] [ENSMUST00000152271]

AlphaFold

Q501J7

Predicted Effect

probably benign
Transcript: ENSMUST00000084170
AA Change: T285A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: T285A

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	88	103	N/A	INTRINSIC
low complexity region	135	149	N/A	INTRINSIC
low complexity region	157	182	N/A	INTRINSIC
low complexity region	194	233	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC
low complexity region	298	322	N/A	INTRINSIC
low complexity region	471	481	N/A	INTRINSIC
low complexity region	488	497	N/A	INTRINSIC
Blast:RPEL	511	535	8e-7	BLAST
RPEL	548	573	2.53e-8	SMART
RPEL	586	611	2.17e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084249
AA Change: T322A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: T322A

Domain	Start	End	E-Value	Type
low complexity region	52	69	N/A	INTRINSIC
RPEL	73	98	1.35e-3	SMART
low complexity region	125	140	N/A	INTRINSIC
low complexity region	172	186	N/A	INTRINSIC
low complexity region	194	219	N/A	INTRINSIC
low complexity region	231	270	N/A	INTRINSIC
low complexity region	291	301	N/A	INTRINSIC
low complexity region	335	359	N/A	INTRINSIC
low complexity region	508	518	N/A	INTRINSIC
low complexity region	525	534	N/A	INTRINSIC
Blast:RPEL	548	572	9e-7	BLAST
RPEL	585	610	2.53e-8	SMART
RPEL	623	648	2.17e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102568
AA Change: T312A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: T312A

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
RPEL	63	88	1.35e-3	SMART
low complexity region	115	130	N/A	INTRINSIC
low complexity region	162	176	N/A	INTRINSIC
low complexity region	184	209	N/A	INTRINSIC
low complexity region	221	260	N/A	INTRINSIC
low complexity region	281	291	N/A	INTRINSIC
low complexity region	325	349	N/A	INTRINSIC
low complexity region	498	508	N/A	INTRINSIC
low complexity region	515	524	N/A	INTRINSIC
Blast:RPEL	538	562	9e-7	BLAST
RPEL	575	600	2.53e-8	SMART
RPEL	613	638	2.17e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127516

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152271
AA Change: T285A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
AA Change: T285A

Domain	Start	End	E-Value	Type
low complexity region	42	59	N/A	INTRINSIC
low complexity region	88	103	N/A	INTRINSIC
low complexity region	135	149	N/A	INTRINSIC
low complexity region	157	182	N/A	INTRINSIC
low complexity region	194	233	N/A	INTRINSIC
low complexity region	254	264	N/A	INTRINSIC

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 (PHACTR) family. Other PHACTR family members have been shown to inhibit protein phosphatase 1 (PP1) activity, and the homolog of this gene in the mouse has been shown to interact with actin and PP1. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic and neonatal lethality, exencephaly, neural tube defects, coloboma, and altered cell cycles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191		probably benign	Het
Abca4	A	G	3: 122,170,954	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053	I214T	probably damaging	Het
C9	C	T	15: 6,483,231	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595		probably benign	Het
Dppa4	A	G	16: 48,291,083	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399		probably null	Het
Fam149a	A	G	8: 45,351,786	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921	D715E	probably benign	Het
Med6	A	T	12: 81,579,574	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207		probably null	Het
Mettl13	A	G	1: 162,535,865	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719	Q34P	probably benign	Het
Plekhj1	T	C	10: 80,796,602		probably null	Het
Pnpt1	T	C	11: 29,154,217		probably null	Het
Prr14l	T	C	5: 32,830,676	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384	V33A	probably damaging	Het
Slc38a4	A	G	15: 96,999,494	F480S	probably damaging	Het
Slc44a1	G	A	4: 53,543,571	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824		probably benign	Het
Ugp2	T	A	11: 21,354,345	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563	F224L	probably benign	Het

Other mutations in Phactr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01106:Phactr4	APN	4	132370805	missense	probably benign	0.09
IGL01962:Phactr4	APN	4	132363775	missense	probably damaging	0.99
IGL02382:Phactr4	APN	4	132370841	missense	probably damaging	1.00
IGL02466:Phactr4	APN	4	132377172	splice site	probably benign
IGL02891:Phactr4	APN	4	132387023	missense	probably damaging	1.00
P0027:Phactr4	UTSW	4	132371090	missense	probably damaging	1.00
R0317:Phactr4	UTSW	4	132386930	missense	probably damaging	1.00
R0961:Phactr4	UTSW	4	132378420	missense	probably benign
R1435:Phactr4	UTSW	4	132377248	missense	probably benign	0.06
R1441:Phactr4	UTSW	4	132377248	missense	probably benign	0.06
R1443:Phactr4	UTSW	4	132377248	missense	probably benign	0.06
R1960:Phactr4	UTSW	4	132377248	missense	probably benign	0.06
R1961:Phactr4	UTSW	4	132377248	missense	probably benign	0.06
R2145:Phactr4	UTSW	4	132370784	missense	probably damaging	0.98
R3077:Phactr4	UTSW	4	132397996	start codon destroyed	probably null	0.53
R3423:Phactr4	UTSW	4	132369747	missense	probably benign	0.38
R3782:Phactr4	UTSW	4	132367867	splice site	probably null
R3871:Phactr4	UTSW	4	132377249	missense	probably benign	0.00
R4427:Phactr4	UTSW	4	132387041	missense	possibly damaging	0.90
R4672:Phactr4	UTSW	4	132370706	missense	probably damaging	1.00
R4871:Phactr4	UTSW	4	132378448	missense	probably damaging	1.00
R5264:Phactr4	UTSW	4	132370982	missense	probably damaging	0.99
R5558:Phactr4	UTSW	4	132378455	missense	probably damaging	1.00
R5955:Phactr4	UTSW	4	132386909	missense	probably damaging	1.00
R6953:Phactr4	UTSW	4	132377351	missense	possibly damaging	0.66
R7210:Phactr4	UTSW	4	132358271	makesense	probably null
R7286:Phactr4	UTSW	4	132377178	critical splice donor site	probably null
R7823:Phactr4	UTSW	4	132361619	nonsense	probably null
R7826:Phactr4	UTSW	4	132378441	missense	possibly damaging	0.94
R8696:Phactr4	UTSW	4	132363794	critical splice acceptor site	probably null
R8841:Phactr4	UTSW	4	132365573	critical splice donor site	probably null
R9228:Phactr4	UTSW	4	132370563	missense	possibly damaging	0.91

Posted On

2011-12-09