Mutagenetix > Incidental Mutation

Incidental Mutation 'R0317:Phactr4'

25438

Institutional Source

Beutler Lab

Gene Symbol

Phactr4

Ensembl Gene

ENSMUSG00000066043

Gene Name

phosphatase and actin regulator 4

Synonyms

C330013F19Rik, 3110001B12Rik

MMRRC Submission

038527-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

132083233-132149759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132114241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 51 (K51I)

Ref Sequence

ENSEMBL: ENSMUSP00000119767 (fasta)

Gene Model

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

AlphaFold

Q501J7

Predicted Effect

probably damaging
Transcript: ENSMUST00000084170
AA Change: K51I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000081185
Gene: ENSMUSG00000066043
AA Change: K51I

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 damaging
Transcript: ENSMUST00000084249
AA Change: K61I

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

SMART Domains

Protein: ENSMUSP00000081270
Gene: ENSMUSG00000066043
AA Change: K61I

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 damaging
Transcript: ENSMUST00000102568
AA Change: K51I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099628
Gene: ENSMUSG00000066043
AA Change: K51I

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 damaging
Transcript: ENSMUST00000136711
AA Change: K61I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122194
Gene: ENSMUSG00000066043
AA Change: K61I

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 damaging
Transcript: ENSMUST00000152271
AA Change: K51I

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

SMART Domains

Protein: ENSMUSP00000119767
Gene: ENSMUSG00000066043
AA Change: K51I

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.8%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,243,459 (GRCm39)	V1774A	probably damaging	Het
Adam34	G	A	8: 44,105,288 (GRCm39)	P119L	probably benign	Het
Ap3b2	T	C	7: 81,113,429 (GRCm39)		probably null	Het
Arfip2	G	A	7: 105,286,430 (GRCm39)	T124M	probably damaging	Het
Arhgef26	T	C	3: 62,330,965 (GRCm39)	S560P	probably damaging	Het
Bcl11a	A	T	11: 24,122,697 (GRCm39)		probably null	Het
Cab39	A	G	1: 85,776,881 (GRCm39)	E322G	probably damaging	Het
Cad	C	A	5: 31,229,665 (GRCm39)	P1382Q	probably benign	Het
Cc2d2a	T	C	5: 43,864,243 (GRCm39)		probably null	Het
Cela2a	A	T	4: 141,549,011 (GRCm39)		probably null	Het
Cert1	C	T	13: 96,770,629 (GRCm39)	R487*	probably null	Het
Ces1e	A	C	8: 93,950,667 (GRCm39)	I38S	probably benign	Het
Ces1f	A	T	8: 93,990,019 (GRCm39)	F364I	probably benign	Het
Chgb	A	G	2: 132,635,731 (GRCm39)	T558A	probably benign	Het
Cnpy4	C	T	5: 138,191,074 (GRCm39)	Q217*	probably null	Het
Crlf1	A	G	8: 70,951,249 (GRCm39)	T43A	probably benign	Het
Dnah7b	T	A	1: 46,173,816 (GRCm39)	M707K	probably damaging	Het
Ets2	G	A	16: 95,513,193 (GRCm39)	S123N	probably damaging	Het
Fry	T	C	5: 150,394,933 (GRCm39)	F304S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,745 (GRCm39)	R120H	probably benign	Het
Gbf1	A	G	19: 46,242,459 (GRCm39)	T96A	probably benign	Het
Ggn	T	A	7: 28,870,515 (GRCm39)	M1K	probably null	Het
Gm5239	A	G	18: 35,669,969 (GRCm39)	T112A	probably benign	Het
Insyn2b	C	A	11: 34,352,826 (GRCm39)	D289E	possibly damaging	Het
Kifbp	A	T	10: 62,413,861 (GRCm39)		probably null	Het
Lrrc15	A	T	16: 30,092,561 (GRCm39)	H259Q	probably benign	Het
Lysmd4	A	G	7: 66,876,045 (GRCm39)	Y236C	probably damaging	Het
Med29	T	C	7: 28,086,284 (GRCm39)	T175A	possibly damaging	Het
Mfsd12	G	T	10: 81,193,633 (GRCm39)	D68Y	probably damaging	Het
Myh1	T	C	11: 67,108,338 (GRCm39)	L1308P	probably damaging	Het
Nphp4	T	A	4: 152,636,388 (GRCm39)		probably null	Het
Or8g30	A	G	9: 39,230,757 (GRCm39)	I51T	probably benign	Het
Pdhx	A	G	2: 102,858,625 (GRCm39)	V393A	probably benign	Het
Pgm5	A	G	19: 24,801,763 (GRCm39)	I155T	possibly damaging	Het
Pgr	A	T	9: 8,965,023 (GRCm39)	I889F	probably benign	Het
Pum2	T	A	12: 8,778,754 (GRCm39)	I468K	possibly damaging	Het
Rab11a	A	G	9: 64,632,835 (GRCm39)	S24P	probably damaging	Het
Rasef	T	C	4: 73,666,799 (GRCm39)	Q160R	probably damaging	Het
Rbl2	A	G	8: 91,813,772 (GRCm39)	D339G	probably benign	Het
Recql5	A	G	11: 115,785,499 (GRCm39)	S666P	probably benign	Het
Rfc1	A	T	5: 65,453,395 (GRCm39)		probably null	Het
Scarb1	A	G	5: 125,366,756 (GRCm39)	V59A	probably damaging	Het
Slc2a4	C	T	11: 69,837,182 (GRCm39)	V85M	probably damaging	Het
Slc6a12	A	G	6: 121,335,584 (GRCm39)	I291V	possibly damaging	Het
Slco3a1	A	C	7: 74,154,174 (GRCm39)	Y104D	probably damaging	Het
Suz12	T	A	11: 79,889,904 (GRCm39)	D13E	probably damaging	Het
Tlr1	G	T	5: 65,083,310 (GRCm39)	C422*	probably null	Het
Tmco1	T	C	1: 167,153,462 (GRCm39)	V114A	probably damaging	Het
Trpa1	T	C	1: 14,951,856 (GRCm39)	T948A	probably benign	Het
Tub	A	T	7: 108,620,134 (GRCm39)	N93Y	probably damaging	Het
Ufsp2	G	A	8: 46,445,270 (GRCm39)		probably null	Het
Veph1	T	C	3: 66,079,396 (GRCm39)	D373G	probably benign	Het
Vmn1r206	A	G	13: 22,805,130 (GRCm39)	S26P	possibly damaging	Het
Vmn2r1	T	C	3: 63,989,240 (GRCm39)	S60P	possibly damaging	Het
Wdcp	A	G	12: 4,901,583 (GRCm39)	S480G	probably benign	Het
Wnk4	T	C	11: 101,159,630 (GRCm39)	S612P	probably benign	Het
Zfp503	T	C	14: 22,036,527 (GRCm39)	K130E	probably benign	Het
Zkscan16	G	A	4: 58,957,602 (GRCm39)	C628Y	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
R0961:Phactr4	UTSW	4	132,105,731 (GRCm39)	missense	probably benign
R1435:Phactr4	UTSW	4	132,104,559 (GRCm39)	missense	probably benign	0.06
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'- CTCTCGGTTGGTTGCTGCACA -3'
(R):5'- CCGTTCCTCTCCATGAACAGAAGAAG -3'

Sequencing Primer
(F):5'- agttgtttgtttgtttgtttgtttg -3'
(R):5'- GAAGCAGAGCAGCCCTC -3'

Posted On

2013-04-16