Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02465:Mup20'

294565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mup20

Ensembl Gene

ENSMUSG00000078672

Gene Name

major urinary protein 20

Synonyms

darcin

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.033) question?

Stock #

IGL02465

Quality Score

Status

Chromosome

Chromosomal Location

61968471-61972395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61970237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 107 (N107D)

Ref Sequence

ENSEMBL: ENSMUSP00000073667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074018]

AlphaFold

Q5FW60

PDB Structure

Structural insights into the specificity of darcin, an atypical major urinary protein. [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074018
AA Change: N107D

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073667
Gene: ENSMUSG00000078672
AA Change: N107D

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Lipocalin	35	174	2.5e-36	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,250,906 (GRCm39)	D555G	probably benign	Het
Anks1b	T	A	10: 89,999,127 (GRCm39)	C411*	probably null	Het
Atp5pf	A	T	16: 84,625,358 (GRCm39)	Y82N	probably damaging	Het
Cd19	A	T	7: 126,012,730 (GRCm39)	V221D	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cyp4f13	A	T	17: 33,148,110 (GRCm39)		probably null	Het
Ddrgk1	T	C	2: 130,496,629 (GRCm39)	D245G	probably damaging	Het
Eya2	A	G	2: 165,557,872 (GRCm39)	D156G	possibly damaging	Het
Gm42763	T	C	9: 110,374,365 (GRCm39)		probably benign	Het
Gtdc1	T	C	2: 44,460,435 (GRCm39)	Y417C	probably damaging	Het
Map1b	T	C	13: 99,569,914 (GRCm39)	T936A	unknown	Het
Med23	G	A	10: 24,779,641 (GRCm39)	R906K	probably damaging	Het
Mill2	G	A	7: 18,592,168 (GRCm39)	W263*	probably null	Het
Neb	A	G	2: 52,083,177 (GRCm39)		probably benign	Het
Ntrk2	A	G	13: 59,208,194 (GRCm39)	N680S	probably damaging	Het
Or12d2	A	C	17: 37,624,802 (GRCm39)	S158A	probably damaging	Het
Or9a2	C	T	6: 41,748,490 (GRCm39)	V248I	probably damaging	Het
Pde3a	A	G	6: 141,195,401 (GRCm39)	H29R	possibly damaging	Het
Pik3c3	T	C	18: 30,477,113 (GRCm39)	I878T	probably damaging	Het
Plxnd1	A	G	6: 115,932,703 (GRCm39)	*1926R	probably null	Het
Prl8a9	T	A	13: 27,743,432 (GRCm39)	L124F	probably damaging	Het
Proser3	A	T	7: 30,242,958 (GRCm39)	N206K	possibly damaging	Het
Rasef	G	T	4: 73,652,725 (GRCm39)	T439N	probably damaging	Het
Slc6a18	T	C	13: 73,825,904 (GRCm39)	T49A	probably benign	Het
Spag17	A	C	3: 99,983,187 (GRCm39)	T1496P	probably damaging	Het
Vmn1r63	A	C	7: 5,806,038 (GRCm39)	V198G	probably damaging	Het
Vmn2r112	T	C	17: 22,833,975 (GRCm39)	S548P	probably damaging	Het
Vps13a	T	C	19: 16,688,305 (GRCm39)	D834G	probably benign	Het
Vps8	A	T	16: 21,340,653 (GRCm39)	N799I	probably damaging	Het
Zfhx4	A	G	3: 5,464,663 (GRCm39)	H1632R	possibly damaging	Het
Zp1	T	A	19: 10,897,851 (GRCm39)	E30V	probably benign	Het

Other mutations in Mup20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02604:Mup20	APN	4	61,970,141 (GRCm39)	missense	probably damaging	0.98
R5207:Mup20	UTSW	4	61,969,823 (GRCm39)	splice site	probably null
R6173:Mup20	UTSW	4	61,972,267 (GRCm39)	missense	unknown
R8194:Mup20	UTSW	4	61,971,721 (GRCm39)	missense	probably benign	0.01
R8364:Mup20	UTSW	4	61,969,768 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16