Mutagenetix > Incidental Mutation

Incidental Mutation 'R1435:Phactr4'

159433

Institutional Source

Beutler Lab

Gene Symbol

Phactr4

Ensembl Gene

ENSMUSG00000066043

Gene Name

phosphatase and actin regulator 4

Synonyms

C330013F19Rik, 3110001B12Rik

MMRRC Submission

039490-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1435 (G1)

Quality Score

148

Status

Not validated

Chromosome

Chromosomal Location

132083233-132149759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 132104559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 256 (T256I)

Ref Sequence

ENSEMBL: ENSMUSP00000081270 (fasta)

Gene Model

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

AlphaFold

Q501J7

Predicted Effect

probably benign
Transcript: ENSMUST00000084170
AA Change: T219I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: T219I

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 benign
Transcript: ENSMUST00000084249
AA Change: T256I

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: T256I

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 benign
Transcript: ENSMUST00000102568
AA Change: T246I

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: T246I

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 benign
Transcript: ENSMUST00000152271
AA Change: T219I

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

SMART Domains

Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
AA Change: T219I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.0%
20x: 81.3%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	G	11: 69,905,642 (GRCm39)	T62P	probably benign	Het
Amz1	A	T	5: 140,733,921 (GRCm39)	N166Y	probably damaging	Het
Anxa6	T	C	11: 54,882,236 (GRCm39)	Q518R	probably benign	Het
Aox3	G	A	1: 58,202,605 (GRCm39)		probably null	Het
Arid1a	C	T	4: 133,408,009 (GRCm39)	R2166Q	unknown	Het
Asb4	T	G	6: 5,398,410 (GRCm39)	I125S	probably benign	Het
Aspscr1	T	C	11: 120,580,048 (GRCm39)	S196P	probably benign	Het
Atxn3	A	G	12: 101,908,460 (GRCm39)	F131L	probably benign	Het
B3gnt5	T	A	16: 19,587,924 (GRCm39)	Y48N	probably damaging	Het
Bglap3	A	G	3: 88,276,453 (GRCm39)	M35T	possibly damaging	Het
Cabp1	A	T	5: 115,311,267 (GRCm39)	D79E	probably damaging	Het
Cemip2	A	T	19: 21,822,070 (GRCm39)	Q1155L	probably benign	Het
Chd2	C	T	7: 73,102,884 (GRCm39)	R1367Q	probably damaging	Het
Clec5a	T	A	6: 40,561,358 (GRCm39)	Q29L	probably damaging	Het
Cmtr2	T	C	8: 110,947,711 (GRCm39)	L7P	probably benign	Het
Cnbd1	T	C	4: 18,907,026 (GRCm39)	I183V	probably benign	Het
Col7a1	G	A	9: 108,792,341 (GRCm39)	G1297D	unknown	Het
Csnk1g3	G	A	18: 54,039,746 (GRCm39)		probably null	Het
Cyp4a32	A	T	4: 115,463,863 (GRCm39)	N134I	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dst	G	A	1: 34,153,026 (GRCm39)	V56M	probably damaging	Het
Engase	A	T	11: 118,375,727 (GRCm39)	T32S	probably damaging	Het
Fam117b	T	C	1: 60,008,222 (GRCm39)	I352T	possibly damaging	Het
Golga4	C	A	9: 118,364,508 (GRCm39)	D290E	probably benign	Het
Gtf2a1l	C	A	17: 89,001,743 (GRCm39)	H153N	probably damaging	Het
Hivep1	C	A	13: 42,311,519 (GRCm39)	T1253N	probably damaging	Het
Hps1	T	C	19: 42,750,714 (GRCm39)	S398G	probably benign	Het
Il1r2	T	A	1: 40,144,459 (GRCm39)	F49I	probably damaging	Het
Iqsec1	A	G	6: 90,649,006 (GRCm39)	S808P	probably damaging	Het
Lrrk1	A	G	7: 65,922,776 (GRCm39)	L289P	probably damaging	Het
Magi2	T	A	5: 20,563,943 (GRCm39)	D358E	probably damaging	Het
Man2b2	A	G	5: 36,970,411 (GRCm39)	W832R	probably damaging	Het
Mfsd4a	G	T	1: 131,995,494 (GRCm39)	T46K	probably damaging	Het
N4bp3	G	A	11: 51,535,167 (GRCm39)	R341W	probably damaging	Het
Odad2	T	A	18: 7,222,646 (GRCm39)	H541L	probably benign	Het
Or51f2	T	C	7: 102,526,974 (GRCm39)	S216P	probably damaging	Het
Or8s5	A	T	15: 98,238,209 (GRCm39)	H220Q	possibly damaging	Het
Otof	A	G	5: 30,536,039 (GRCm39)	L1353S	probably benign	Het
Pcsk5	A	T	19: 17,541,246 (GRCm39)	C844*	probably null	Het
Pdk2	T	C	11: 94,922,721 (GRCm39)	Y153C	probably damaging	Het
Pes1	T	C	11: 3,926,075 (GRCm39)	V292A	probably benign	Het
Pex14	T	C	4: 149,047,984 (GRCm39)	T198A	probably benign	Het
Pnpla2	G	A	7: 141,037,324 (GRCm39)	R109H	probably benign	Het
Polh	G	A	17: 46,505,181 (GRCm39)	T145I	probably damaging	Het
Polr3d	A	T	14: 70,677,479 (GRCm39)	V299E	probably benign	Het
Polr3e	C	T	7: 120,540,011 (GRCm39)	T586M	probably benign	Het
Rbm20	T	A	19: 53,802,588 (GRCm39)	F365L	probably benign	Het
Resf1	A	G	6: 149,227,580 (GRCm39)	T209A	probably benign	Het
Rnf213	G	T	11: 119,326,831 (GRCm39)	C1606F	probably damaging	Het
Sipa1l2	A	G	8: 126,195,464 (GRCm39)	V758A	probably damaging	Het
Slc22a16	T	A	10: 40,463,603 (GRCm39)	M451K	probably damaging	Het
Slc28a1	T	C	7: 80,803,265 (GRCm39)	S359P	probably damaging	Het
Slc45a1	G	T	4: 150,728,505 (GRCm39)	F99L	probably damaging	Het
Sp3	A	T	2: 72,768,500 (GRCm39)	N754K	possibly damaging	Het
Taf4b	A	T	18: 14,940,466 (GRCm39)	Q315L	probably damaging	Het
Tcstv2a	T	A	13: 120,725,524 (GRCm39)	W63R	probably damaging	Het
Tmprss15	A	T	16: 78,818,342 (GRCm39)	N544K	probably benign	Het
Tnfsf13b	A	G	8: 10,085,358 (GRCm39)	I283V	probably benign	Het
Tnfsf14	T	A	17: 57,497,605 (GRCm39)	E209V	possibly damaging	Het
Uckl1	T	G	2: 181,214,926 (GRCm39)	S283R	probably benign	Het
Ush1g	T	C	11: 115,209,294 (GRCm39)	D300G	probably damaging	Het
Virma	C	T	4: 11,528,621 (GRCm39)	A1286V	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r59	A	T	7: 41,695,629 (GRCm39)	M261K	possibly damaging	Het
Vwf	A	T	6: 125,619,212 (GRCm39)	K1297*	probably null	Het
Zdbf2	G	A	1: 63,342,199 (GRCm39)	E193K	possibly damaging	Het
Zfp759	T	G	13: 67,286,830 (GRCm39)	I127S	possibly damaging	Het

Other mutations in Phactr4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Phactr4	APN	4	132,098,303 (GRCm39)	missense	possibly damaging	0.94
IGL01106:Phactr4	APN	4	132,098,116 (GRCm39)	missense	probably benign	0.09
IGL01962:Phactr4	APN	4	132,091,086 (GRCm39)	missense	probably damaging	0.99
IGL02382:Phactr4	APN	4	132,098,152 (GRCm39)	missense	probably damaging	1.00
IGL02466:Phactr4	APN	4	132,104,483 (GRCm39)	splice site	probably benign
IGL02891:Phactr4	APN	4	132,114,334 (GRCm39)	missense	probably damaging	1.00
P0027:Phactr4	UTSW	4	132,098,401 (GRCm39)	missense	probably damaging	1.00
R0317:Phactr4	UTSW	4	132,114,241 (GRCm39)	missense	probably damaging	1.00
R0961:Phactr4	UTSW	4	132,105,731 (GRCm39)	missense	probably benign
R1441:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1443:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1960:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R1961:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
R2145:Phactr4	UTSW	4	132,098,095 (GRCm39)	missense	probably damaging	0.98
R3077:Phactr4	UTSW	4	132,125,307 (GRCm39)	start codon destroyed	probably null	0.53
R3423:Phactr4	UTSW	4	132,097,058 (GRCm39)	missense	probably benign	0.38
R3782:Phactr4	UTSW	4	132,095,178 (GRCm39)	splice site	probably null
R3871:Phactr4	UTSW	4	132,104,560 (GRCm39)	missense	probably benign	0.00
R4427:Phactr4	UTSW	4	132,114,352 (GRCm39)	missense	possibly damaging	0.90
R4672:Phactr4	UTSW	4	132,098,017 (GRCm39)	missense	probably damaging	1.00
R4871:Phactr4	UTSW	4	132,105,759 (GRCm39)	missense	probably damaging	1.00
R5264:Phactr4	UTSW	4	132,098,293 (GRCm39)	missense	probably damaging	0.99
R5558:Phactr4	UTSW	4	132,105,766 (GRCm39)	missense	probably damaging	1.00
R5955:Phactr4	UTSW	4	132,114,220 (GRCm39)	missense	probably damaging	1.00
R6953:Phactr4	UTSW	4	132,104,662 (GRCm39)	missense	possibly damaging	0.66
R7210:Phactr4	UTSW	4	132,085,582 (GRCm39)	makesense	probably null
R7286:Phactr4	UTSW	4	132,104,489 (GRCm39)	critical splice donor site	probably null
R7823:Phactr4	UTSW	4	132,088,930 (GRCm39)	nonsense	probably null
R7826:Phactr4	UTSW	4	132,105,752 (GRCm39)	missense	possibly damaging	0.94
R8696:Phactr4	UTSW	4	132,091,105 (GRCm39)	critical splice acceptor site	probably null
R8841:Phactr4	UTSW	4	132,092,884 (GRCm39)	critical splice donor site	probably null
R9228:Phactr4	UTSW	4	132,097,874 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- tgcttgcttgcttTCTCAGTgaca -3'
(R):5'- TGGCTCTACCACCGTGACATCT -3'

Sequencing Primer
(F):5'- cgggagacagaggcagg -3'
(R):5'- ACCGTGACATCTGCTGC -3'

Posted On

2014-03-14