Mutagenetix > Incidental Mutations

Incidental Mutation 'R4249:Phldb3'

320531

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

041065-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4249 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24610763-24629297 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24627320 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 591 (I591T)

Ref Sequence

ENSEMBL: ENSMUSP00000146187 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000073325
AA Change: I591T

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

SMART Domains

Protein: ENSMUSP00000073047
Gene: ENSMUSG00000074277
AA Change: I591T

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: ENSMUST00000180699

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205857

Predicted Effect

probably damaging
Transcript: ENSMUST00000206422
AA Change: I591T

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,472,956	N36S	possibly damaging	Het
2810474O19Rik	T	A	6: 149,325,543	M29K	possibly damaging	Het
Ankrd39	A	G	1: 36,547,155	S11P	probably benign	Het
Aox2	A	G	1: 58,299,819	S324G	probably benign	Het
Atl3	T	C	19: 7,532,338	V477A	probably benign	Het
Bcar1	T	C	8: 111,720,893	T151A	probably benign	Het
Cdc42bpg	A	G	19: 6,315,266	T718A	possibly damaging	Het
Col9a1	C	T	1: 24,244,381	R843C	probably damaging	Het
Dnah12	T	A	14: 26,709,186	D316E	possibly damaging	Het
Fat2	A	G	11: 55,284,301	V1862A	probably damaging	Het
Fbxw5	C	A	2: 25,503,460	N233K	probably damaging	Het
Fcer2a	A	G	8: 3,688,831	F75L	probably benign	Het
Fhod3	A	G	18: 24,990,066	K271R	probably null	Het
Gimd1	T	C	3: 132,644,408	V144A	possibly damaging	Het
Glt1d1	T	C	5: 127,691,112		probably null	Het
Hecw2	C	T	1: 53,832,645	V1381M	probably damaging	Het
Kansl1l	C	T	1: 66,773,478	D459N	probably damaging	Het
Lmtk3	G	A	7: 45,794,062	C723Y	possibly damaging	Het
Muc4	T	C	16: 32,755,826		probably benign	Het
Myom1	T	A	17: 71,092,140	V999E	probably damaging	Het
Nckap5	A	G	1: 126,027,639	L460P	probably benign	Het
Olfr109	T	C	17: 37,466,824	M206T	probably damaging	Het
Phf13	A	T	4: 151,992,095	N213K	probably damaging	Het
Pik3cb	T	C	9: 99,101,176		probably null	Het
Pkd1l1	C	T	11: 8,865,543	R1456K	possibly damaging	Het
Plekhh2	A	G	17: 84,586,337	E860G	possibly damaging	Het
Rest	A	G	5: 77,282,112	T793A	probably benign	Het
Ropn1	C	T	16: 34,678,456	Q205*	probably null	Het
Sacs	A	C	14: 61,203,457	K984T	probably benign	Het
Samd11	G	A	4: 156,250,486	R102C	probably damaging	Het
Satl1	A	G	X: 112,406,336	S141P	probably benign	Het
Shank1	C	A	7: 44,319,736	H352N	unknown	Het
Slc22a27	A	T	19: 7,925,879	I162K	possibly damaging	Het
Snx8	A	G	5: 140,356,045	L121P	probably damaging	Het
Sumf1	A	C	6: 108,155,013	V156G	probably damaging	Het
Tln1	A	T	4: 43,536,104	V2027E	probably damaging	Het
Trdn	A	G	10: 33,450,998	I594M	probably benign	Het
Trim5	C	G	7: 104,276,815	E180Q	possibly damaging	Het
Tsen2	A	G	6: 115,547,824		probably benign	Het
Tubb1	A	T	2: 174,455,733	E45V	probably null	Het
Vmn2r67	T	A	7: 85,150,514		probably null	Het
Zcchc14	CTGATGGTGGTGGTGATGGTGGTGG	CTGATGGTGGTGG	8: 121,604,292		probably benign	Het
Zfp160	T	A	17: 21,025,738	F183L	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
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
R5017:Phldb3	UTSW	7	24620096	missense	probably damaging	1.00
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'- CCTGTCTCACATCTAGCATAGACAT -3'
(R):5'- AGTTATGGTCCGGTGCTGGA -3'

Sequencing Primer
(F):5'- CCAGCCTTGGGGTTATCACATTG -3'
(R):5'- CTGGACGGTGAGTATAGTCAG -3'

Posted On

2015-06-12