Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00709:Prelid2'

13154

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prelid2

Ensembl Gene

ENSMUSG00000056671

Gene Name

PRELI domain containing 2

Synonyms

C330008K14Rik, 1700003A01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00709

Quality Score

Status

Chromosome

Chromosomal Location

42008761-42084259 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42045488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 141 (N141Y)

Ref Sequence

ENSEMBL: ENSMUSP00000064661 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070949]

AlphaFold

Q0VBB0

Predicted Effect

probably damaging
Transcript: ENSMUST00000070949
AA Change: N141Y

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

SMART Domains

Protein: ENSMUSP00000064661
Gene: ENSMUSG00000056671
AA Change: N141Y

Domain	Start	End	E-Value	Type
Pfam:PRELI	16	173	2.8e-51	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp6v1d	T	C	12: 78,896,528 (GRCm39)	H113R	probably benign	Het
Cd59a	A	G	2: 103,944,425 (GRCm39)	N91S	probably benign	Het
Ddx21	C	A	10: 62,434,181 (GRCm39)	E193*	probably null	Het
Mink1	T	A	11: 70,503,845 (GRCm39)	I1255N	probably damaging	Het
Orc1	G	T	4: 108,447,975 (GRCm39)		probably null	Het
Rad50	A	G	11: 53,560,469 (GRCm39)	L1051S	possibly damaging	Het
Sidt1	C	T	16: 44,082,374 (GRCm39)		probably benign	Het
Slc25a24	A	G	3: 109,066,670 (GRCm39)	K275E	probably damaging	Het
Stx19	A	G	16: 62,642,943 (GRCm39)	N253S	probably benign	Het
Tanc2	A	G	11: 105,689,621 (GRCm39)	Y261C	probably damaging	Het
Wdr62	A	G	7: 29,941,486 (GRCm39)	L706P	probably benign	Het

Other mutations in Prelid2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01731:Prelid2	APN	18	42,070,714 (GRCm39)	missense	probably benign	0.03
G1patch:Prelid2	UTSW	18	42,045,514 (GRCm39)	missense	possibly damaging	0.82
R0217:Prelid2	UTSW	18	42,068,317 (GRCm39)	splice site	probably benign
R0556:Prelid2	UTSW	18	42,084,245 (GRCm39)	start gained	probably benign
R0627:Prelid2	UTSW	18	42,070,717 (GRCm39)	missense	possibly damaging	0.50
R0848:Prelid2	UTSW	18	42,068,289 (GRCm39)	missense	probably damaging	0.98
R1522:Prelid2	UTSW	18	42,014,332 (GRCm39)	missense	probably benign
R3919:Prelid2	UTSW	18	42,070,740 (GRCm39)	missense	possibly damaging	0.79
R4131:Prelid2	UTSW	18	42,084,224 (GRCm39)	missense	possibly damaging	0.94
R4422:Prelid2	UTSW	18	42,045,461 (GRCm39)	missense	probably benign	0.01
R4892:Prelid2	UTSW	18	42,084,209 (GRCm39)	missense	possibly damaging	0.86
R6062:Prelid2	UTSW	18	42,045,530 (GRCm39)	missense	probably benign	0.00
R6725:Prelid2	UTSW	18	42,045,514 (GRCm39)	missense	possibly damaging	0.82
R7276:Prelid2	UTSW	18	42,045,487 (GRCm39)	missense	possibly damaging	0.65
R7739:Prelid2	UTSW	18	42,045,433 (GRCm39)	critical splice donor site	probably null
R7941:Prelid2	UTSW	18	42,065,816 (GRCm39)	nonsense	probably null
R8093:Prelid2	UTSW	18	42,065,700 (GRCm39)	missense	probably damaging	1.00
R8202:Prelid2	UTSW	18	42,065,802 (GRCm39)	missense	possibly damaging	0.95
R8393:Prelid2	UTSW	18	42,014,313 (GRCm39)	missense	probably benign	0.08
R9010:Prelid2	UTSW	18	42,065,781 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06