Mutagenetix > Incidental Mutations

Incidental Mutation 'R5017:Phldb3'

385612

Institutional Source

Beutler Lab

Gene Symbol

Phldb3

Ensembl Gene

ENSMUSG00000074277

Gene Name

pleckstrin homology like domain, family B, member 3

Synonyms

EG232970, Gm10102

MMRRC Submission

042608-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R5017 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

24610763-24629297 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 24620096 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 353 (T353M)

Ref Sequence

ENSEMBL: ENSMUSP00000146187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073325] [ENSMUST00000206422]

Predicted Effect

probably damaging
Transcript: ENSMUST00000073325
AA Change: T353M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: T353M

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
low complexity region	61	74	N/A	INTRINSIC
coiled coil region	111	302	N/A	INTRINSIC
low complexity region	364	374	N/A	INTRINSIC
Blast:PH	389	447	2e-29	BLAST
Blast:PH	457	488	4e-6	BLAST
low complexity region	490	514	N/A	INTRINSIC
PH	541	645	1.54e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205857

Predicted Effect

probably damaging
Transcript: ENSMUST00000206422
AA Change: T353M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.1%
3x: 97.0%
10x: 94.3%
20x: 87.9%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	T	10: 82,296,676	F167I	unknown	Het
Adamdec1	T	C	14: 68,573,245	D154G	probably benign	Het
Agbl5	G	A	5: 30,903,059	R141Q	probably damaging	Het
Arhgef3	G	T	14: 27,265,530	R20L	possibly damaging	Het
Birc2	A	T	9: 7,818,885	C568*	probably null	Het
Cep44	A	G	8: 56,544,207	S99P	possibly damaging	Het
Clstn2	A	G	9: 97,483,086	W456R	probably damaging	Het
Cog5	T	A	12: 31,920,605	S783T	probably benign	Het
Endod1	G	A	9: 14,356,891	R433*	probably null	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gdpd4	C	A	7: 98,004,275	Y498*	probably null	Het
Gm10722	T	C	9: 3,000,937	C6R	probably benign	Het
Hapln2	A	G	3: 88,024,001	V69A	probably damaging	Het
Ifit3	A	C	19: 34,587,192	N46T	possibly damaging	Het
Kcnh8	T	C	17: 52,893,930	L464S	probably damaging	Het
Lrrc9	C	A	12: 72,506,325	R1334S	possibly damaging	Het
Macf1	A	G	4: 123,452,113	F2631L	probably damaging	Het
Mafa	T	C	15: 75,747,489	H145R	probably benign	Het
Muc6	T	C	7: 141,640,528	T1411A	probably benign	Het
Nos3	A	G	5: 24,366,719		probably benign	Het
Nwd2	T	A	5: 63,650,141		probably benign	Het
Olfr160	A	T	9: 37,711,525	Y251*	probably null	Het
Olfr44	A	T	9: 39,484,755	M166K	possibly damaging	Het
Olfr981	A	T	9: 40,022,376		probably benign	Het
Pde11a	A	T	2: 76,136,367	D579E	probably benign	Het
Phkb	A	T	8: 86,049,809	H954L	probably benign	Het
Pigu	A	T	2: 155,299,208		probably null	Het
Pla2r1	A	G	2: 60,522,760		probably null	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Setbp1	C	A	18: 78,856,594	G1286V	possibly damaging	Het
Siglecg	T	A	7: 43,411,386		probably benign	Het
Slc25a46	A	T	18: 31,605,783	H118Q	probably damaging	Het
Sycp1	A	T	3: 102,895,987		probably null	Het
Tmem132c	A	G	5: 127,563,350	T862A	probably benign	Het
Tmem256	T	C	11: 69,838,992		probably benign	Het
Tpr	A	T	1: 150,398,637	E98D	probably benign	Het
Trdn	A	G	10: 33,468,159	D623G	probably benign	Het
Trip11	T	C	12: 101,846,620	N1485S	probably benign	Het
Trpm1	T	C	7: 64,244,832		probably benign	Het
Uhrf1bp1	T	A	17: 27,894,739	L1295*	probably null	Het
Vmn1r227	T	C	17: 20,736,078		noncoding transcript	Het
Xpo6	G	A	7: 126,104,747	A21V	probably benign	Het
Zfp276	A	G	8: 123,264,977		probably benign	Het

Other mutations in Phldb3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Phldb3	APN	7	24628870	missense	probably damaging	1.00
IGL01683:Phldb3	APN	7	24619437	missense	possibly damaging	0.71
IGL01732:Phldb3	APN	7	24627326	missense	probably damaging	1.00
IGL01765:Phldb3	APN	7	24617375	missense	possibly damaging	0.55
IGL03103:Phldb3	APN	7	24624176	missense	possibly damaging	0.71
FR4548:Phldb3	UTSW	7	24628978	makesense	probably null
R0052:Phldb3	UTSW	7	24612579	missense	probably benign	0.01
R0230:Phldb3	UTSW	7	24612579	missense	probably benign	0.01
R0234:Phldb3	UTSW	7	24612579	missense	probably benign	0.01
R0655:Phldb3	UTSW	7	24624372	missense	probably benign	0.07
R1731:Phldb3	UTSW	7	24619235	missense	probably benign	0.10
R1935:Phldb3	UTSW	7	24617407	missense	probably benign	0.01
R1936:Phldb3	UTSW	7	24617407	missense	probably benign	0.01
R2155:Phldb3	UTSW	7	24612645	missense	probably damaging	1.00
R2410:Phldb3	UTSW	7	24624294	missense	probably benign	0.01
R4249:Phldb3	UTSW	7	24627320	missense	probably damaging	1.00
R4501:Phldb3	UTSW	7	24612561	missense	probably benign
R4665:Phldb3	UTSW	7	24611427	missense	probably benign	0.00
R4916:Phldb3	UTSW	7	24624291	missense	probably benign
R4970:Phldb3	UTSW	7	24624685	missense	possibly damaging	0.73
R5112:Phldb3	UTSW	7	24624685	missense	possibly damaging	0.73
R5864:Phldb3	UTSW	7	24624146	missense	possibly damaging	0.55
R5881:Phldb3	UTSW	7	24626722	critical splice donor site	probably null
R6176:Phldb3	UTSW	7	24626702	missense	probably damaging	1.00
R6756:Phldb3	UTSW	7	24627331	missense	probably damaging	1.00
R6800:Phldb3	UTSW	7	24624152	missense	possibly damaging	0.93
R7223:Phldb3	UTSW	7	24624653	missense	probably benign
R7485:Phldb3	UTSW	7	24611264	start gained	probably benign
R7707:Phldb3	UTSW	7	24626597	missense	possibly damaging	0.80
RF010:Phldb3	UTSW	7	24626495	frame shift	probably null
RF031:Phldb3	UTSW	7	24626493	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TGTGTCCTGAAACCAAGCCC -3'
(R):5'- AGCAGTGAAGGCTCCTGATG -3'

Sequencing Primer
(F):5'- CCTAATGTACGCACATGTGTG -3'
(R):5'- TGAAGGCTCCTGATGGACCG -3'

Posted On

2016-05-10