Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Phactr4'

565988

Institutional Source

Beutler Lab

Gene Symbol

Phactr4

Ensembl Gene

ENSMUSG00000066043

Gene Name

phosphatase and actin regulator 4

Synonyms

3110001B12Rik, C330013F19Rik

MMRRC Submission

045394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132355923-132422489 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 132377178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099628 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084170] [ENSMUST00000084249] [ENSMUST00000102568] [ENSMUST00000136711] [ENSMUST00000152271]

AlphaFold

Q501J7

Predicted Effect

probably null
Transcript: ENSMUST00000084170

SMART Domains

Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043

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

probably null
Transcript: ENSMUST00000084249

SMART Domains

Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043

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

probably null
Transcript: ENSMUST00000102568

SMART Domains

Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043

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

probably benign
Transcript: ENSMUST00000136711

SMART Domains

Protein: ENSMUSP00000122194
Gene: ENSMUSG00000066043

Domain	Start	End	E-Value	Type
low complexity region	52	69	N/A	INTRINSIC
low complexity region	98	113	N/A	INTRINSIC
low complexity region	145	156	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000152271

SMART Domains

Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,622,479	C130S	probably benign	Het
4921501E09Rik	T	C	17: 33,065,527	D767G	probably benign	Het
4930550C14Rik	A	T	9: 53,423,017	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,157,237	E156G	possibly damaging	Het
Acad9	C	T	3: 36,075,990	A194V	probably damaging	Het
Agps	T	A	2: 75,852,784	V151E	probably benign	Het
Ak9	A	T	10: 41,407,371	I1273L		Het
Akr1c19	T	A	13: 4,246,819	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,013,394	D1353A	probably damaging	Het
Ccz1	T	A	5: 144,013,079	I43F	probably damaging	Het
Cep70	G	A	9: 99,275,585	C179Y	probably damaging	Het
Comt	A	T	16: 18,410,690	L196H	probably damaging	Het
Cspg5	A	T	9: 110,246,955	D253V	probably damaging	Het
Dars2	A	G	1: 161,046,808	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,348,390	I335T	probably damaging	Het
Ddn	T	C	15: 98,806,025	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,742,746		probably null	Het
Ethe1	A	G	7: 24,607,952	Y197C	probably damaging	Het
Evc	A	T	5: 37,322,183	L269*	probably null	Het
Fam161a	T	C	11: 23,020,001	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,681,442	V400A	probably benign	Het
Fam53b	T	A	7: 132,759,661	S213C	possibly damaging	Het
Flot2	A	G	11: 78,054,786	I45V	probably benign	Het
Gemin4	A	C	11: 76,212,753	L394R	probably damaging	Het
Glis2	T	G	16: 4,611,318	S128R	possibly damaging	Het
Gm3696	A	G	14: 7,089,808	Y92H	probably damaging	Het
Gm49333	T	C	16: 20,632,591	S325P	probably benign	Het
Gpbp1l1	T	C	4: 116,590,245	V374A	probably benign	Het
Grm1	T	C	10: 10,689,696	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,843,031	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,582,337	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,666,597	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,292,825		probably benign	Het
Igf2	T	C	7: 142,655,818	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,487,321	V56I	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,174,360	Q633*	probably null	Het
Mesd	T	C	7: 83,895,749	Y136H	probably damaging	Het
Mga	T	A	2: 119,964,788	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,418,927	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068	I373V	probably benign	Het
Mycbp2	G	A	14: 103,120,591	T4589M	probably damaging	Het
Myh2	A	G	11: 67,188,369	Q921R	probably benign	Het
Myom1	A	G	17: 71,045,549	D324G	possibly damaging	Het
Nat10	T	C	2: 103,754,169	K88E	probably benign	Het
Ncapd3	A	G	9: 27,069,958	R915G	probably damaging	Het
Nek4	T	C	14: 30,957,292	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,602,052	Y797D	probably damaging	Het
Ngp	A	G	9: 110,420,910	D92G	probably benign	Het
Nos2	A	C	11: 78,929,854	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,486,460		probably benign	Het
Olfr1129	C	T	2: 87,575,519	T145I	probably benign	Het
Olfr1350	C	A	7: 6,570,716	H242N	probably damaging	Het
Olfr141	A	T	2: 86,806,623	H125Q	possibly damaging	Het
Olfr498	T	C	7: 108,465,435	I37T	possibly damaging	Het
Otogl	T	A	10: 107,770,610	D2154V	probably benign	Het
Pdss1	T	A	2: 22,935,641		probably null	Het
Pex5	A	T	6: 124,398,063	L609*	probably null	Het
Pglyrp4	C	A	3: 90,732,974	A177D	probably damaging	Het
Pik3cd	G	C	4: 149,659,714	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,215,163		probably benign	Het
Prss38	A	T	11: 59,375,558	W25R	probably benign	Het
Prss8	T	A	7: 127,926,884	Q189L	probably damaging	Het
Psd	T	A	19: 46,314,801	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,457,691	T538I	probably benign	Het
Rarres1	T	C	3: 67,515,184	T78A	probably benign	Het
Rbl2	G	T	8: 91,102,294	G651*	probably null	Het
Rev3l	A	T	10: 39,823,605	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,429,587	S215P	probably benign	Het
Scarf2	G	A	16: 17,802,973	W168*	probably null	Het
Sh2d7	A	G	9: 54,540,902	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,529,528	Y578*	probably null	Het
Slc2a9	A	T	5: 38,453,195	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,810,070	H795Q	probably damaging	Het
Spata13	C	T	14: 60,756,422	R1108W	probably damaging	Het
Sqle	T	C	15: 59,316,052	S70P	probably benign	Het
Syncrip	A	T	9: 88,464,663	F263I	probably damaging	Het
Synj2	T	C	17: 6,037,945	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,181,115	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,819,027		probably null	Het
Tcp10c	T	C	17: 13,362,176	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,917,239	N415K	probably benign	Het
Ugcg	T	C	4: 59,217,111	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,479,808	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,652,073	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,690,880	N752S	probably benign	Het
Vps54	T	A	11: 21,275,005	M167K	probably benign	Het
Vwa2	A	C	19: 56,909,359	M699L	probably benign	Het
Wdr59	A	G	8: 111,465,862	V689A		Het
Whamm	T	G	7: 81,586,247	N399K	probably damaging	Het
Zcchc6	T	C	13: 59,821,649	E144G	probably benign	Het
Zfp760	A	G	17: 21,722,779	K312E	probably benign	Het
Zkscan3	C	A	13: 21,394,813	V171L	probably benign	Het

Other mutations in Phactr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Phactr4	APN	4	132370992	missense	possibly damaging	0.94
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
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

Predicted Primers

PCR Primer
(F):5'- CCAAGAGATGAGTTAGAAAAGTCTTTC -3'
(R):5'- CTGCTGCCACAGACATGAC -3'

Sequencing Primer
(F):5'- AAAGTCTTTCACAGCTGGGC -3'
(R):5'- CACAGACATGACAAAGACTGTTAAG -3'

Posted On

2019-06-26