Mutagenetix > Incidental Mutation

Incidental Mutation 'R3508:Plekha8'

267461

Institutional Source

Beutler Lab

Gene Symbol

Plekha8

Ensembl Gene

ENSMUSG00000005225

Gene Name

pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8

Synonyms

FAPP2

MMRRC Submission

040664-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54572096-54622824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54590179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 48 (V48A)

Ref Sequence

ENSEMBL: ENSMUSP00000112466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101385] [ENSMUST00000119706]

AlphaFold

Q80W71

Predicted Effect

probably damaging
Transcript: ENSMUST00000101385
AA Change: V3A

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

SMART Domains

Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: V3A

Domain	Start	End	E-Value	Type
Blast:PH	1	50	1e-27	BLAST
PDB:2KCJ\|A	1	55	3e-24	PDB
SCOP:d1ki1b2	1	57	2e-4	SMART
Blast:PH	59	128	2e-35	BLAST
Pfam:GLTP	283	429	3.5e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000119706
AA Change: V48A

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

SMART Domains

Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: V48A

Domain	Start	End	E-Value	Type
PH	1	95	1.3e-12	SMART
Blast:PH	106	173	2e-30	BLAST
Pfam:GLTP	330	471	5.6e-46	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,953,991 (GRCm39)	F816L	probably benign	Het
Adgrl3	C	A	5: 81,872,103 (GRCm39)	N932K	probably damaging	Het
Apol8	T	C	15: 77,633,643 (GRCm39)	E311G	probably damaging	Het
Atad2b	G	A	12: 5,000,595 (GRCm39)		probably null	Het
Carmil1	A	G	13: 24,203,659 (GRCm39)		probably benign	Het
Cdc20b	T	C	13: 113,217,576 (GRCm39)	S332P	possibly damaging	Het
Cep162	A	G	9: 87,114,030 (GRCm39)		probably null	Het
Cfap54	T	A	10: 92,721,286 (GRCm39)	S2482C	unknown	Het
Cnpy1	T	C	5: 28,412,365 (GRCm39)	E107G	probably damaging	Het
Crtac1	C	T	19: 42,293,180 (GRCm39)	V310I	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Elmo1	T	C	13: 20,789,402 (GRCm39)	I706T	probably damaging	Het
F12	T	C	13: 55,568,872 (GRCm39)	T297A	probably benign	Het
Fanci	A	G	7: 79,083,220 (GRCm39)	I736V	probably benign	Het
Fbn1	T	C	2: 125,148,247 (GRCm39)	N2667S	probably benign	Het
Flt4	T	C	11: 49,524,941 (GRCm39)	S596P	probably damaging	Het
Fndc1	G	A	17: 7,983,940 (GRCm39)	R1329*	probably null	Het
Gjd4	G	T	18: 9,280,811 (GRCm39)	S89*	probably null	Het
H2-M10.1	T	G	17: 36,636,506 (GRCm39)	R99S	possibly damaging	Het
Homer3	T	A	8: 70,744,005 (GRCm39)	V243D	probably benign	Het
Hspa14	A	G	2: 3,492,045 (GRCm39)	S437P	probably damaging	Het
Inpp1	A	T	1: 52,838,550 (GRCm39)	I33N	probably damaging	Het
Ipo5	T	A	14: 121,176,956 (GRCm39)	Y714N	probably damaging	Het
Kif27	T	C	13: 58,461,026 (GRCm39)	E898G	possibly damaging	Het
Klhdc7b	T	A	15: 89,271,095 (GRCm39)	M1K	probably null	Het
Krt87	A	G	15: 101,386,039 (GRCm39)	Y241H	probably benign	Het
Mfsd4b1	A	G	10: 39,878,715 (GRCm39)	I394T	probably benign	Het
Micall1	A	G	15: 79,006,965 (GRCm39)	D264G	probably damaging	Het
Mms22l	T	G	4: 24,586,224 (GRCm39)	D905E	probably benign	Het
Musk	A	G	4: 58,327,347 (GRCm39)	D217G	probably damaging	Het
Napb	T	C	2: 148,540,880 (GRCm39)	T236A	probably benign	Het
Nbn	T	A	4: 15,962,387 (GRCm39)	D38E	probably damaging	Het
Ncaph	T	C	2: 126,969,113 (GRCm39)	N87D	probably benign	Het
Or4a78	A	G	2: 89,497,816 (GRCm39)	V138A	probably benign	Het
Pcdhb13	T	A	18: 37,576,204 (GRCm39)	V194E	probably damaging	Het
Pck1	T	C	2: 173,000,177 (GRCm39)	V536A	possibly damaging	Het
Pld5	C	T	1: 175,821,603 (GRCm39)	G188S	probably damaging	Het
Pnkd	A	G	1: 74,389,793 (GRCm39)	T306A	probably benign	Het
Ppm1k	T	C	6: 57,491,975 (GRCm39)	E279G	probably damaging	Het
Ppm1l	G	T	3: 69,456,813 (GRCm39)	K243N	possibly damaging	Het
Ppp1r13b	T	C	12: 111,838,801 (GRCm39)	T26A	probably damaging	Het
Rtel1	T	C	2: 180,964,202 (GRCm39)	V67A	probably benign	Het
Rxfp4	T	C	3: 88,559,899 (GRCm39)	E184G	probably damaging	Het
Scp2d1	A	G	2: 144,665,918 (GRCm39)	I86V	probably benign	Het
Sec16a	G	T	2: 26,315,862 (GRCm39)	P1718Q	probably damaging	Het
Sgcg	T	A	14: 61,459,195 (GRCm39)	T245S	probably benign	Het
Slc18a2	A	G	19: 59,261,989 (GRCm39)	T215A	probably benign	Het
Sorcs1	G	A	19: 50,213,613 (GRCm39)	R705C	probably damaging	Het
Sox17	G	T	1: 4,562,378 (GRCm39)	P146Q	probably damaging	Het
Spata31d1e	A	T	13: 59,890,319 (GRCm39)	Y500*	probably null	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Sybu	T	A	15: 44,536,478 (GRCm39)	E616V	probably damaging	Het
Tk2	C	T	8: 104,957,825 (GRCm39)	V174I	probably benign	Het
Tmc5	G	A	7: 118,244,618 (GRCm39)	V499I	probably benign	Het
Tonsl	T	C	15: 76,523,956 (GRCm39)	T15A	probably benign	Het
Ttll12	A	G	15: 83,464,831 (GRCm39)	I448T	probably damaging	Het
Ttn	A	G	2: 76,584,101 (GRCm39)	S22336P	probably damaging	Het
Ubap1	C	A	4: 41,379,163 (GRCm39)	H126N	probably damaging	Het
Upf1	C	T	8: 70,791,110 (GRCm39)	R544H	probably damaging	Het
Vmn2r84	T	C	10: 130,226,777 (GRCm39)	N354D	probably damaging	Het
Vpreb3	A	C	10: 75,785,037 (GRCm39)	H45P	probably benign	Het
Zc3h13	T	A	14: 75,546,380 (GRCm39)	Y160*	probably null	Het

Other mutations in Plekha8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Plekha8	APN	6	54,606,822 (GRCm39)	nonsense	probably null
IGL01413:Plekha8	APN	6	54,599,261 (GRCm39)	missense	probably benign	0.00
IGL02148:Plekha8	APN	6	54,592,271 (GRCm39)	missense	probably damaging	1.00
IGL02959:Plekha8	APN	6	54,592,254 (GRCm39)	missense	probably damaging	1.00
IGL02986:Plekha8	APN	6	54,606,851 (GRCm39)	missense	probably damaging	1.00
IGL03214:Plekha8	APN	6	54,612,755 (GRCm39)	missense	probably damaging	1.00
R0372:Plekha8	UTSW	6	54,593,743 (GRCm39)	critical splice donor site	probably null
R0519:Plekha8	UTSW	6	54,599,092 (GRCm39)	splice site	probably benign
R0606:Plekha8	UTSW	6	54,606,805 (GRCm39)	missense	probably damaging	1.00
R1797:Plekha8	UTSW	6	54,617,959 (GRCm39)	missense	probably damaging	1.00
R3015:Plekha8	UTSW	6	54,599,107 (GRCm39)	missense	probably benign	0.01
R3809:Plekha8	UTSW	6	54,596,334 (GRCm39)	missense	probably benign	0.00
R4360:Plekha8	UTSW	6	54,599,171 (GRCm39)	missense	probably benign
R4757:Plekha8	UTSW	6	54,599,213 (GRCm39)	missense	probably benign
R4822:Plekha8	UTSW	6	54,601,546 (GRCm39)	missense	probably damaging	1.00
R5721:Plekha8	UTSW	6	54,590,091 (GRCm39)	missense	probably damaging	1.00
R6359:Plekha8	UTSW	6	54,590,104 (GRCm39)	missense	probably damaging	0.98
R6756:Plekha8	UTSW	6	54,601,125 (GRCm39)	nonsense	probably null
R6857:Plekha8	UTSW	6	54,606,920 (GRCm39)	missense	probably damaging	1.00
R7319:Plekha8	UTSW	6	54,601,206 (GRCm39)	missense	probably benign	0.06
R7420:Plekha8	UTSW	6	54,590,179 (GRCm39)	missense	probably damaging	1.00
R7994:Plekha8	UTSW	6	54,592,230 (GRCm39)	missense	probably damaging	1.00
R8348:Plekha8	UTSW	6	54,607,539 (GRCm39)	missense	probably damaging	1.00
R8448:Plekha8	UTSW	6	54,607,539 (GRCm39)	missense	probably damaging	1.00
R8710:Plekha8	UTSW	6	54,599,245 (GRCm39)	missense	probably benign	0.00
R8889:Plekha8	UTSW	6	54,592,540 (GRCm39)	intron	probably benign
R8976:Plekha8	UTSW	6	54,607,521 (GRCm39)	missense	probably damaging	0.99
R9386:Plekha8	UTSW	6	54,605,846 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCGTACTTCTATGCCTGC -3'
(R):5'- TTAACACATCCTGAAAGAGCTGG -3'

Sequencing Primer
(F):5'- GTACTTCTATGCCTGCCTTGG -3'
(R):5'- TCCTGAAAGAGCTGGCTGCAG -3'

Posted On

2015-02-18