Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Phlda3'

178689

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Phlda3

Ensembl Gene

ENSMUSG00000041801

Gene Name

pleckstrin homology like domain, family A, member 3

Synonyms

Tih1, TDAG/lpl homolog 1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

135693857-135696874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 135694376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 64 (S64G)

Ref Sequence

ENSEMBL: ENSMUSP00000040614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038945]

AlphaFold

Q9WV95

Predicted Effect

probably benign
Transcript: ENSMUST00000038945
AA Change: S64G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000040614
Gene: ENSMUSG00000041801
AA Change: S64G

Domain	Start	End	E-Value	Type
PH	7	103	4.3e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136445

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal embryonic and placental weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,565,310 (GRCm39)	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,438,604 (GRCm39)	K300E	probably damaging	Het
Cma2	C	A	14: 56,211,194 (GRCm39)	S162Y	probably benign	Het
Cntn4	A	G	6: 106,466,676 (GRCm39)	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,824,377 (GRCm39)	M556L	probably benign	Het
Dld	A	G	12: 31,385,466 (GRCm39)	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,009,552 (GRCm39)	D3746E	probably benign	Het
Eea1	A	G	10: 95,809,848 (GRCm39)	T9A	probably damaging	Het
Eeig1	T	C	2: 32,456,294 (GRCm39)	S319P	probably benign	Het
Gbf1	A	G	19: 46,274,108 (GRCm39)	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
H2-M1	A	T	17: 36,980,955 (GRCm39)	M327K	probably benign	Het
Ifnz	T	A	4: 88,701,548 (GRCm39)	S176T	possibly damaging	Het
Irak4	T	C	15: 94,445,751 (GRCm39)	Y10H	probably benign	Het
Irx5	T	C	8: 93,086,405 (GRCm39)	F163L	probably damaging	Het
Jak3	C	T	8: 72,133,434 (GRCm39)	P376S	probably damaging	Het
Lrrc25	T	C	8: 71,070,437 (GRCm39)	S73P	possibly damaging	Het
Macf1	C	T	4: 123,367,906 (GRCm39)	G2285D	probably damaging	Het
Muc4	A	T	16: 32,574,624 (GRCm39)	T1025S	probably benign	Het
Mylk2	A	G	2: 152,757,134 (GRCm39)	N303S	probably benign	Het
Or5v1b	G	A	17: 37,841,555 (GRCm39)	R229H	probably benign	Het
Pcnx1	T	C	12: 82,022,667 (GRCm39)	V1512A	probably benign	Het
Pptc7	C	A	5: 122,451,665 (GRCm39)	S40R	probably damaging	Het
Pramel19	T	A	4: 101,797,887 (GRCm39)	L95H	probably benign	Het
Ptpn4	A	C	1: 119,603,277 (GRCm39)		probably null	Het
Slc10a1	T	C	12: 81,007,302 (GRCm39)	M160V	probably benign	Het
Stac	T	C	9: 111,401,400 (GRCm39)	I349V	probably benign	Het
Synm	A	G	7: 67,385,866 (GRCm39)	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,052,915 (GRCm39)	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,601,411 (GRCm39)	V883I	possibly damaging	Het
Upp1	T	C	11: 9,075,700 (GRCm39)		probably null	Het
Whamm	C	T	7: 81,245,722 (GRCm39)	T726I	probably damaging	Het

Other mutations in Phlda3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0233:Phlda3	UTSW	1	135,694,559 (GRCm39)	missense	probably damaging	0.96
R0233:Phlda3	UTSW	1	135,694,559 (GRCm39)	missense	probably damaging	0.96
R4510:Phlda3	UTSW	1	135,694,400 (GRCm39)	missense	probably damaging	1.00
R4511:Phlda3	UTSW	1	135,694,400 (GRCm39)	missense	probably damaging	1.00
R4790:Phlda3	UTSW	1	135,694,557 (GRCm39)	missense	possibly damaging	0.90
R6825:Phlda3	UTSW	1	135,694,562 (GRCm39)	makesense	probably null

Posted On

2014-05-07