Mutagenetix > Incidental Mutation

Incidental Mutation 'R0108:Ppfia4'

64159

Institutional Source

Beutler Lab

Gene Symbol

Ppfia4

Ensembl Gene

ENSMUSG00000026458

Gene Name

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4

Synonyms

Liprin-alpha4, 1110008G13Rik, Gm3812, LOC100042382

MMRRC Submission

038394-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0108 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

134224521-134260666 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 134251955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168515] [ENSMUST00000186730] [ENSMUST00000189361]

AlphaFold

B8QI36

Predicted Effect

probably null
Transcript: ENSMUST00000168515

SMART Domains

Protein: ENSMUSP00000128314
Gene: ENSMUSG00000026458

Domain	Start	End	E-Value	Type
coiled coil region	22	127	N/A	INTRINSIC
coiled coil region	225	474	N/A	INTRINSIC
coiled coil region	567	611	N/A	INTRINSIC
low complexity region	629	645	N/A	INTRINSIC
low complexity region	731	744	N/A	INTRINSIC
SAM	826	895	1.17e-9	SMART
SAM	941	1008	1.69e-6	SMART
SAM	1029	1101	4.87e-7	SMART
low complexity region	1154	1167	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000186730

SMART Domains

Protein: ENSMUSP00000139800
Gene: ENSMUSG00000026458

Domain	Start	End	E-Value	Type
coiled coil region	1	191	N/A	INTRINSIC
coiled coil region	284	328	N/A	INTRINSIC
low complexity region	346	362	N/A	INTRINSIC
low complexity region	448	461	N/A	INTRINSIC
SAM	543	612	7e-12	SMART
SAM	649	716	1e-8	SMART
SAM	737	809	2.8e-9	SMART
low complexity region	862	875	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000189361

SMART Domains

Protein: ENSMUSP00000139833
Gene: ENSMUSG00000026458

Domain	Start	End	E-Value	Type
coiled coil region	22	127	N/A	INTRINSIC
coiled coil region	225	474	N/A	INTRINSIC
coiled coil region	567	611	N/A	INTRINSIC
low complexity region	629	645	N/A	INTRINSIC
low complexity region	731	744	N/A	INTRINSIC
SAM	826	895	7e-12	SMART
SAM	941	1008	1e-8	SMART
SAM	1029	1101	2.8e-9	SMART
low complexity region	1154	1167	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	T	C	15: 11,311,184 (GRCm39)	V1147A	probably benign	Het
Arid5b	T	C	10: 68,114,559 (GRCm39)		probably benign	Het
Impg1	T	C	9: 80,230,130 (GRCm39)	N655D	possibly damaging	Het
Jph4	T	C	14: 55,346,757 (GRCm39)	R597G	probably benign	Het
Lonp2	G	A	8: 87,442,983 (GRCm39)	V815I	probably benign	Het
Mpdz	C	T	4: 81,300,042 (GRCm39)	V319I	probably damaging	Het
Myh14	A	G	7: 44,283,943 (GRCm39)	V654A	probably damaging	Het
Nfyb	G	A	10: 82,590,836 (GRCm39)	A65V	possibly damaging	Het
Nod1	A	G	6: 54,920,734 (GRCm39)	F528S	probably benign	Het
Obscn	T	C	11: 58,913,200 (GRCm39)	D6939G	probably damaging	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Ptprj	A	T	2: 90,300,121 (GRCm39)		probably null	Het
Sel1l3	C	T	5: 53,295,244 (GRCm39)	A786T	possibly damaging	Het
Shroom1	T	C	11: 53,357,764 (GRCm39)	S772P	possibly damaging	Het
Slc30a5	G	T	13: 100,939,908 (GRCm39)	A669E	probably damaging	Het
Tas2r120	T	A	6: 132,634,809 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,604,674 (GRCm39)	I1093L	probably benign	Het
Vmn2r75	G	A	7: 85,814,866 (GRCm39)	A209V	probably benign	Het
Vps13b	A	G	15: 35,572,265 (GRCm39)	T961A	probably benign	Het

Other mutations in Ppfia4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01371:Ppfia4	APN	1	134,255,824 (GRCm39)	missense	probably benign	0.00
IGL01935:Ppfia4	APN	1	134,245,674 (GRCm39)	missense	probably benign	0.02
IGL02008:Ppfia4	APN	1	134,260,129 (GRCm39)	missense	probably damaging	1.00
R0037:Ppfia4	UTSW	1	134,251,827 (GRCm39)	missense	probably damaging	1.00
R0084:Ppfia4	UTSW	1	134,227,164 (GRCm39)	missense	possibly damaging	0.84
R0109:Ppfia4	UTSW	1	134,251,955 (GRCm39)	splice site	probably null
R0109:Ppfia4	UTSW	1	134,251,955 (GRCm39)	splice site	probably null
R0238:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0238:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0239:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0239:Ppfia4	UTSW	1	134,256,927 (GRCm39)	missense	possibly damaging	0.89
R0254:Ppfia4	UTSW	1	134,251,962 (GRCm39)	splice site	probably benign
R0445:Ppfia4	UTSW	1	134,255,027 (GRCm39)	missense	probably benign	0.31
R0504:Ppfia4	UTSW	1	134,251,851 (GRCm39)	missense	probably damaging	1.00
R0617:Ppfia4	UTSW	1	134,256,518 (GRCm39)	missense	probably damaging	1.00
R0839:Ppfia4	UTSW	1	134,256,545 (GRCm39)	missense	probably null	1.00
R0849:Ppfia4	UTSW	1	134,247,110 (GRCm39)	missense	probably benign	0.45
R0898:Ppfia4	UTSW	1	134,248,864 (GRCm39)	missense	probably benign
R1173:Ppfia4	UTSW	1	134,260,021 (GRCm39)	splice site	probably benign
R1728:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1729:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1730:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1762:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1783:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1784:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1785:Ppfia4	UTSW	1	134,227,059 (GRCm39)	missense	probably benign	0.00
R1812:Ppfia4	UTSW	1	134,252,311 (GRCm39)	missense	probably benign	0.04
R2148:Ppfia4	UTSW	1	134,240,372 (GRCm39)	missense	probably benign	0.25
R2160:Ppfia4	UTSW	1	134,241,461 (GRCm39)	missense	probably benign	0.40
R2308:Ppfia4	UTSW	1	134,260,135 (GRCm39)	missense	possibly damaging	0.94
R2421:Ppfia4	UTSW	1	134,255,138 (GRCm39)	missense	probably benign	0.00
R3694:Ppfia4	UTSW	1	134,240,305 (GRCm39)	missense	probably damaging	1.00
R3707:Ppfia4	UTSW	1	134,237,398 (GRCm39)	missense	probably damaging	0.99
R3708:Ppfia4	UTSW	1	134,237,398 (GRCm39)	missense	probably damaging	0.99
R3725:Ppfia4	UTSW	1	134,241,449 (GRCm39)	missense	probably benign	0.04
R3964:Ppfia4	UTSW	1	134,250,754 (GRCm39)	missense	probably benign
R4889:Ppfia4	UTSW	1	134,228,252 (GRCm39)	missense	probably damaging	1.00
R4909:Ppfia4	UTSW	1	134,260,239 (GRCm39)	missense	probably damaging	0.97
R4939:Ppfia4	UTSW	1	134,255,817 (GRCm39)	missense	possibly damaging	0.67
R5226:Ppfia4	UTSW	1	134,232,024 (GRCm39)	critical splice donor site	probably null
R5433:Ppfia4	UTSW	1	134,245,632 (GRCm39)	missense	probably damaging	1.00
R5576:Ppfia4	UTSW	1	134,250,788 (GRCm39)	missense	possibly damaging	0.81
R5727:Ppfia4	UTSW	1	134,251,815 (GRCm39)	critical splice donor site	probably null
R5793:Ppfia4	UTSW	1	134,239,844 (GRCm39)	missense	probably damaging	1.00
R6193:Ppfia4	UTSW	1	134,251,899 (GRCm39)	missense	probably benign	0.04
R6216:Ppfia4	UTSW	1	134,256,921 (GRCm39)	missense	probably damaging	1.00
R6679:Ppfia4	UTSW	1	134,237,417 (GRCm39)	missense	probably damaging	1.00
R6742:Ppfia4	UTSW	1	134,256,909 (GRCm39)	missense	probably damaging	1.00
R7039:Ppfia4	UTSW	1	134,239,853 (GRCm39)	missense	probably damaging	0.97
R7206:Ppfia4	UTSW	1	134,255,127 (GRCm39)	missense	probably benign	0.00
R7259:Ppfia4	UTSW	1	134,240,838 (GRCm39)	missense	probably damaging	1.00
R7454:Ppfia4	UTSW	1	134,251,873 (GRCm39)	missense	possibly damaging	0.87
R8139:Ppfia4	UTSW	1	134,228,266 (GRCm39)	missense	probably benign	0.01
R8878:Ppfia4	UTSW	1	134,227,122 (GRCm39)	missense
R8970:Ppfia4	UTSW	1	134,252,289 (GRCm39)	missense	probably damaging	1.00
R9065:Ppfia4	UTSW	1	134,251,893 (GRCm39)	missense	possibly damaging	0.71
R9087:Ppfia4	UTSW	1	134,240,326 (GRCm39)	missense	probably damaging	1.00
R9187:Ppfia4	UTSW	1	134,255,006 (GRCm39)	missense	probably damaging	0.99
R9308:Ppfia4	UTSW	1	134,245,556 (GRCm39)	missense	probably benign	0.30
R9424:Ppfia4	UTSW	1	134,247,044 (GRCm39)	missense	possibly damaging	0.67
R9522:Ppfia4	UTSW	1	134,240,886 (GRCm39)	missense	probably damaging	1.00
R9687:Ppfia4	UTSW	1	134,245,694 (GRCm39)	missense	probably benign	0.01
Z1176:Ppfia4	UTSW	1	134,255,117 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TGGCTCAGGTGGCTTTACCAATATG -3'
(R):5'- AACAAAGATCTCCAAGGTGGCTGAC -3'

Sequencing Primer
(F):5'- AGTCCACTGGGCTCCAC -3'
(R):5'- GGCACCAGTTAGCCATCTTG -3'

Posted On

2013-08-06