Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01383:Mup3'

78939

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 #

IGL01383

Quality Score

Status

Chromosome

Chromosomal Location

62001713-62005554 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 62004196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 106 (Y106D)

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: Y106D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081579
Gene: ENSMUSG00000066154
AA Change: Y106D

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: Y106D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103096
Gene: ENSMUSG00000066154
AA Change: Y106D

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: Y106D

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103112
Gene: ENSMUSG00000066154
AA Change: Y106D

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930555G01Rik	C	A	14: 5,051,570 (GRCm38)		probably null	Het
Abca9	A	C	11: 110,004,119 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,333,464 (GRCm39)	M227K	probably benign	Het
Asb5	T	A	8: 55,003,544 (GRCm39)	L22H	probably damaging	Het
Atrx	T	C	X: 104,845,681 (GRCm39)	D2309G	probably damaging	Het
Cand1	T	A	10: 119,044,072 (GRCm39)	T1074S	probably damaging	Het
Cep97	T	C	16: 55,731,970 (GRCm39)	E534G	probably damaging	Het
Cftr	C	A	6: 18,226,040 (GRCm39)	N329K	probably benign	Het
Clec7a	T	C	6: 129,449,603 (GRCm39)	T16A	probably damaging	Het
Col1a1	G	A	11: 94,836,351 (GRCm39)	R674H	probably damaging	Het
Csf2rb2	T	C	15: 78,181,243 (GRCm39)	S50G	possibly damaging	Het
Eepd1	A	G	9: 25,393,778 (GRCm39)	D14G	probably damaging	Het
Fsd1	C	T	17: 56,303,733 (GRCm39)	S491F	probably damaging	Het
Grin1	C	A	2: 25,186,979 (GRCm39)	R694L	possibly damaging	Het
Gtf3c1	A	G	7: 125,298,672 (GRCm39)	I151T	probably damaging	Het
Havcr2	T	C	11: 46,360,375 (GRCm39)	S152P	probably damaging	Het
Hvcn1	T	C	5: 122,375,766 (GRCm39)	V15A	probably damaging	Het
Iqca1l	A	T	5: 24,753,292 (GRCm39)	N453K	probably benign	Het
Map3k10	C	T	7: 27,357,424 (GRCm39)	V785M	probably benign	Het
Mis18bp1	T	C	12: 65,195,763 (GRCm39)	N667S	probably benign	Het
Mypn	G	T	10: 62,971,576 (GRCm39)	N821K	probably damaging	Het
Odad1	T	C	7: 45,589,124 (GRCm39)	S179P	probably damaging	Het
Or2y1c	T	A	11: 49,361,880 (GRCm39)	W301R	probably benign	Het
Or52b4	A	G	7: 102,184,140 (GRCm39)	Y62C	probably benign	Het
Or5ac25	A	T	16: 59,182,316 (GRCm39)	N88K	probably benign	Het
Or5i1	A	G	2: 87,613,217 (GRCm39)	D111G	possibly damaging	Het
Pcdhb10	A	T	18: 37,546,328 (GRCm39)	H468L	probably benign	Het
Pramel27	T	G	4: 143,573,102 (GRCm39)		probably benign	Het
Prp2	C	A	6: 132,576,841 (GRCm39)	P43T	unknown	Het
Psg26	A	G	7: 18,214,179 (GRCm39)	V161A	possibly damaging	Het
Rab17	T	G	1: 90,887,815 (GRCm39)	D115A	probably damaging	Het
Rrp1b	T	C	17: 32,277,552 (GRCm39)	F611L	probably damaging	Het
Skor1	T	A	9: 63,053,838 (GRCm39)	T44S	probably benign	Het
Spaca5	T	C	X: 20,934,725 (GRCm39)		probably benign	Het
Tatdn3	G	A	1: 190,787,578 (GRCm39)		probably benign	Het
Tbk1	T	C	10: 121,412,184 (GRCm39)	D118G	probably damaging	Het
Tnfsf13b	T	C	8: 10,081,528 (GRCm39)	F230S	probably damaging	Het
Tnrc6c	T	C	11: 117,605,083 (GRCm39)	S73P	probably benign	Het
Vmn2r109	A	G	17: 20,761,383 (GRCm39)	V658A	possibly damaging	Het
Vmn2r116	C	T	17: 23,620,575 (GRCm39)	L770F	probably damaging	Het
Wwp2	T	A	8: 108,259,923 (GRCm39)		probably null	Het

Other mutations in Mup3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02233:Mup3	APN	4	62,003,016 (GRCm39)	missense	probably damaging	1.00
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

2013-11-05