Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02233:Mup3'

285795

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mup3

Ensembl Gene

ENSMUSG00000066154

Gene Name

major urinary protein 3

Synonyms

Mup-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL02233

Quality Score

Status

Chromosome

Chromosomal Location

62001713-62005554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62003016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 170 (I170T)

Ref Sequence

ENSEMBL: ENSMUSP00000103112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084531] [ENSMUST00000107472] [ENSMUST00000107488]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000084531
AA Change: I170T

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

SMART Domains

Protein: ENSMUSP00000081579
Gene: ENSMUSG00000066154
AA Change: I170T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Lipocalin	38	177	2.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107472
AA Change: I170T

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

SMART Domains

Protein: ENSMUSP00000103096
Gene: ENSMUSG00000066154
AA Change: I170T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Lipocalin	38	177	2.2e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107488
AA Change: I170T

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

SMART Domains

Protein: ENSMUSP00000103112
Gene: ENSMUSG00000066154
AA Change: I170T

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:Lipocalin	38	177	2.2e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134190

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	A	11: 110,165,170 (GRCm39)	Q1581*	probably null	Het
Abcc10	A	T	17: 46,635,085 (GRCm39)		probably null	Het
Adam25	A	G	8: 41,208,423 (GRCm39)	Y563C	probably damaging	Het
Cnr2	T	A	4: 135,644,522 (GRCm39)	I200N	possibly damaging	Het
Col5a2	T	C	1: 45,422,747 (GRCm39)		probably null	Het
Cpa2	T	C	6: 30,557,666 (GRCm39)		probably benign	Het
Dis3l2	T	C	1: 86,917,953 (GRCm39)	V534A	probably damaging	Het
Dlg2	A	T	7: 92,093,746 (GRCm39)	D845V	probably damaging	Het
Dnah8	T	C	17: 30,925,487 (GRCm39)		probably null	Het
Ephb4	T	A	5: 137,352,763 (GRCm39)	Y115*	probably null	Het
Evc2	A	G	5: 37,535,681 (GRCm39)	Y452C	probably damaging	Het
Fbn1	A	G	2: 125,163,530 (GRCm39)		probably benign	Het
Gm5134	A	T	10: 75,844,334 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,184 (GRCm39)	T249A	possibly damaging	Het
Hoxc6	A	G	15: 102,918,308 (GRCm39)	T91A	probably benign	Het
Lin9	C	A	1: 180,516,865 (GRCm39)	A535E	probably damaging	Het
Muc1	G	A	3: 89,138,935 (GRCm39)	V515I	probably benign	Het
Myo1e	T	C	9: 70,291,081 (GRCm39)		probably benign	Het
Or3a1d	A	G	11: 74,238,254 (GRCm39)	V52A	possibly damaging	Het
Or8b50	A	G	9: 38,518,538 (GRCm39)	Y259C	probably damaging	Het
Pde4d	T	C	13: 109,877,084 (GRCm39)	S202P	probably damaging	Het
Pomt2	A	G	12: 87,158,185 (GRCm39)	V676A	probably benign	Het
Rasl10a	C	A	11: 5,008,333 (GRCm39)	L10M	probably damaging	Het
Rilp	T	C	11: 75,403,538 (GRCm39)	Y327H	probably damaging	Het
Sec23ip	A	G	7: 128,380,903 (GRCm39)	S957G	probably damaging	Het
Srbd1	T	C	17: 86,406,050 (GRCm39)		probably null	Het
Thsd7a	T	C	6: 12,555,257 (GRCm39)	H209R	probably benign	Het
Trav14-3	T	C	14: 54,000,643 (GRCm39)		probably benign	Het
Vipr2	A	G	12: 116,058,356 (GRCm39)	N91S	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Mup3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01383:Mup3	APN	4	62,004,196 (GRCm39)	missense	probably damaging	0.98
IGL03088:Mup3	APN	4	62,005,079 (GRCm39)	missense	probably damaging	0.99
R0432:Mup3	UTSW	4	62,003,519 (GRCm39)	missense	probably benign	0.13
R0619:Mup3	UTSW	4	62,004,198 (GRCm39)	missense	probably benign	0.02
R0884:Mup3	UTSW	4	62,005,411 (GRCm39)	missense	possibly damaging	0.68
R5568:Mup3	UTSW	4	62,002,809 (GRCm39)	missense	possibly damaging	0.93
R5849:Mup3	UTSW	4	62,005,172 (GRCm39)	critical splice acceptor site	probably null
R5909:Mup3	UTSW	4	62,004,244 (GRCm39)	missense	probably benign	0.01
R7851:Mup3	UTSW	4	62,003,494 (GRCm39)	missense	possibly damaging	0.65
R7919:Mup3	UTSW	4	62,002,829 (GRCm39)	missense	probably damaging	0.98
R8975:Mup3	UTSW	4	62,003,472 (GRCm39)	missense	probably benign	0.01
R9029:Mup3	UTSW	4	62,003,540 (GRCm39)	missense	probably damaging	1.00
Z1088:Mup3	UTSW	4	62,005,426 (GRCm39)	missense	unknown

Posted On

2015-04-16