Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02169:Plac8l1'

282838

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plac8l1

Ensembl Gene

ENSMUSG00000059455

Gene Name

PLAC8-like 1

Synonyms

1700015M15Rik, 1700009N18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL02169

Quality Score

Status

Chromosome

Chromosomal Location

42311748-42329774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42312008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 137 (D137G)

Ref Sequence

ENSEMBL: ENSMUSP00000080111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081374]

AlphaFold

Q08EJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000081374
AA Change: D137G

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

SMART Domains

Protein: ENSMUSP00000080111
Gene: ENSMUSG00000059455
AA Change: D137G

Domain	Start	End	E-Value	Type
Pfam:PLAC8	72	155	1.1e-15	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,843,408 (GRCm39)	I1001F	probably damaging	Het
Amfr	A	T	8: 94,731,858 (GRCm39)		probably null	Het
Apol7c	T	G	15: 77,410,616 (GRCm39)	D110A	possibly damaging	Het
Bcr	A	G	10: 74,995,714 (GRCm39)	N899S	probably benign	Het
Ccnt2	T	A	1: 127,702,126 (GRCm39)		probably benign	Het
Clptm1l	G	A	13: 73,759,782 (GRCm39)	V281I	probably damaging	Het
Ctsr	A	G	13: 61,311,054 (GRCm39)		probably benign	Het
Dbh	G	A	2: 27,064,910 (GRCm39)	V374M	probably damaging	Het
Eif3b	A	G	5: 140,415,836 (GRCm39)	D385G	possibly damaging	Het
F830045P16Rik	A	G	2: 129,305,492 (GRCm39)	V294A	probably damaging	Het
Foxj2	A	G	6: 122,805,425 (GRCm39)	N99S	probably damaging	Het
Gabrr1	T	G	4: 33,160,261 (GRCm39)	V315G	probably damaging	Het
Gm21988	T	C	11: 70,129,764 (GRCm39)	E25G	probably benign	Het
Islr	A	T	9: 58,065,415 (GRCm39)	F31I	possibly damaging	Het
L2hgdh	A	T	12: 69,768,171 (GRCm39)	L109Q	probably damaging	Het
Lrp6	A	G	6: 134,490,290 (GRCm39)	I96T	probably damaging	Het
Nup93	A	G	8: 95,028,757 (GRCm39)	D330G	probably damaging	Het
Or2ag19	T	A	7: 106,444,473 (GRCm39)	Y218*	probably null	Het
Or8k33	T	C	2: 86,384,226 (GRCm39)	M81V	probably benign	Het
Phtf1	C	A	3: 103,904,815 (GRCm39)	L488I	probably benign	Het
Pth1r	G	A	9: 110,553,503 (GRCm39)	T392I	probably damaging	Het
Rab43	A	G	6: 87,788,406 (GRCm39)	F41L	probably damaging	Het
Ralgapb	C	T	2: 158,268,124 (GRCm39)	L76F	probably damaging	Het
Ros1	A	G	10: 51,958,053 (GRCm39)		probably null	Het
Rpl27a	T	C	7: 109,119,185 (GRCm39)	I43T	probably benign	Het
Set	G	A	2: 29,959,536 (GRCm39)	D129N	possibly damaging	Het
Sorbs2	A	T	8: 46,276,786 (GRCm39)	Y604F	probably damaging	Het
Tg	T	C	15: 66,629,792 (GRCm39)	V491A	probably benign	Het
Txlna	T	C	4: 129,523,406 (GRCm39)	T429A	probably damaging	Het
Vmn1r128	C	T	7: 21,084,163 (GRCm39)	P289L	probably damaging	Het
Wfs1	A	G	5: 37,125,823 (GRCm39)	F356S	probably damaging	Het
Zfp687	G	A	3: 94,918,743 (GRCm39)	T343I	probably damaging	Het
Zfp935	A	G	13: 62,604,745 (GRCm39)		probably null	Het

Other mutations in Plac8l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03228:Plac8l1	APN	18	42,325,672 (GRCm39)	missense	probably damaging	1.00
R1530:Plac8l1	UTSW	18	42,311,996 (GRCm39)	missense	probably damaging	1.00
R3766:Plac8l1	UTSW	18	42,313,460 (GRCm39)	missense	probably benign	0.44
R4793:Plac8l1	UTSW	18	42,311,973 (GRCm39)	missense	possibly damaging	0.93
R8171:Plac8l1	UTSW	18	42,313,445 (GRCm39)	missense	probably damaging	1.00
R9224:Plac8l1	UTSW	18	42,325,702 (GRCm39)	missense	possibly damaging	0.82

Posted On

2015-04-16