Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01129:Lypd3'

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51612

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lypd3

Ensembl Gene

ENSMUSG00000057454

Gene Name

Ly6/Plaur domain containing 3

Synonyms

2310061G07Rik, C4.4A

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.159) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

24636550-24641118 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24640593 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 362 (M362V)

Ref Sequence

ENSEMBL: ENSMUSP00000079543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080718]

Predicted Effect

probably benign
Transcript: ENSMUST00000080718
AA Change: M362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000079543
Gene: ENSMUSG00000057454
AA Change: M362V

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LU	33	128	7.26e-26	SMART
Pfam:UPAR_LY6	142	224	1.3e-16	PFAM
low complexity region	234	255	N/A	INTRINSIC
low complexity region	258	278	N/A	INTRINSIC
low complexity region	303	320	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180699

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice show no overt epidermal phenotype and have normal squamous epithelia morphology but are lighter and leaner than controls. Males display delayed wound healing whereas females show reduced food intake and a lower incidence of invasive lesions in a BBN-induced bladder cancer model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	A	T	X: 67,920,604	F216L	possibly damaging	Het
Bace2	T	G	16: 97,408,430	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ckap2	C	T	8: 22,169,758	G569D	probably damaging	Het
Col11a1	T	C	3: 114,185,873		probably benign	Het
Col1a2	G	A	6: 4,535,846	D939N	unknown	Het
Creb3l2	A	T	6: 37,353,634		probably benign	Het
Cuedc1	T	A	11: 88,183,254	S205T	possibly damaging	Het
Cux1	G	A	5: 136,304,718		probably benign	Het
Cyp3a59	A	G	5: 146,098,279	M256V	probably benign	Het
Gzf1	C	A	2: 148,690,996	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,994,965	D575E	probably benign	Het
Mppe1	C	A	18: 67,237,444	G61*	probably null	Het
Nr2c2	T	A	6: 92,158,416	D328E	probably benign	Het
Olfr6	T	C	7: 106,956,427	N170D	probably damaging	Het
Pfn4	T	A	12: 4,775,505	V114E	probably damaging	Het
Rab14	T	C	2: 35,183,386		probably benign	Het
Slc30a9	G	T	5: 67,342,143	G315C	probably damaging	Het
Spag16	A	T	1: 69,896,522	S303C	probably benign	Het
Spata16	C	T	3: 26,913,184		probably benign	Het
Srcap	T	C	7: 127,521,651	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,149,746		probably benign	Het
Vmn1r18	A	T	6: 57,390,497	F24Y	probably benign	Het
Vmn1r78	A	T	7: 12,153,238	T259S	probably benign	Het
Zc3h13	G	A	14: 75,335,999	D1527N	probably damaging	Het

Other mutations in Lypd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01443:Lypd3	APN	7	24636638	missense	probably benign	0.03
R0200:Lypd3	UTSW	7	24640231	missense	probably damaging	1.00
R0726:Lypd3	UTSW	7	24638544	nonsense	probably null
R1706:Lypd3	UTSW	7	24640330	missense	probably benign	0.00
R5714:Lypd3	UTSW	7	24639069	missense	possibly damaging	0.86
R5771:Lypd3	UTSW	7	24640362	missense	probably benign
R6137:Lypd3	UTSW	7	24640494	missense	probably benign	0.00
R6908:Lypd3	UTSW	7	24638433	missense	probably damaging	1.00
R6932:Lypd3	UTSW	7	24638433	missense	probably damaging	1.00
R6935:Lypd3	UTSW	7	24638433	missense	probably damaging	1.00
R7632:Lypd3	UTSW	7	24638440	missense	possibly damaging	0.60

Posted On

2013-06-21