Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02932:Mup6'

364139

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mup6

Ensembl Gene

ENSMUSG00000078689

Gene Name

major urinary protein 6

Synonyms

Gm12544

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02932

Quality Score

Status

Chromosome

Chromosomal Location

60003481-60007274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 60006009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 159 (D159A)

Ref Sequence

ENSEMBL: ENSMUSP00000103145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107517] [ENSMUST00000107520] [ENSMUST00000107521]

AlphaFold

A2AV72

Predicted Effect

probably damaging
Transcript: ENSMUST00000107517
AA Change: D167A

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

SMART Domains

Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
AA Change: D167A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lipocalin	33	172	1.6e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107520
AA Change: D167A

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

SMART Domains

Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
AA Change: D167A

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Lipocalin	33	172	1.6e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107521
AA Change: D159A

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

SMART Domains

Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: D159A

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	25	164	1.4e-35	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap42	T	A	9: 9,115,709 (GRCm39)	E122D	probably damaging	Het
Asb3	G	A	11: 30,979,067 (GRCm39)		probably null	Het
Avl9	T	C	6: 56,713,536 (GRCm39)	S265P	probably benign	Het
Cep44	C	T	8: 57,000,459 (GRCm39)	R18Q	probably damaging	Het
Clec10a	T	C	11: 70,060,554 (GRCm39)		probably benign	Het
Cog4	A	G	8: 111,579,065 (GRCm39)	I115V	probably benign	Het
Coq3	C	T	4: 21,900,430 (GRCm39)	A219V	probably benign	Het
Cry2	G	A	2: 92,243,462 (GRCm39)	R460*	probably null	Het
Ddx39b	A	G	17: 35,472,337 (GRCm39)		probably benign	Het
Dhx40	G	A	11: 86,662,755 (GRCm39)	R646C	probably damaging	Het
Ears2	G	A	7: 121,662,284 (GRCm39)	R55C	probably damaging	Het
Eif3m	C	T	2: 104,845,214 (GRCm39)	G26R	probably damaging	Het
Exo5	A	G	4: 120,779,742 (GRCm39)	L41P	probably benign	Het
Fut10	A	G	8: 31,749,965 (GRCm39)	H417R	probably damaging	Het
Gars1	T	A	6: 55,037,929 (GRCm39)	L296Q	probably damaging	Het
Gpr143	A	T	X: 151,576,439 (GRCm39)		probably benign	Het
Htr1b	C	A	9: 81,513,689 (GRCm39)	R306L	probably damaging	Het
Lama3	G	A	18: 12,661,858 (GRCm39)	A2185T	probably damaging	Het
Mbd5	C	A	2: 49,169,460 (GRCm39)	Q1544K	possibly damaging	Het
Mccc1	T	C	3: 36,014,178 (GRCm39)	E713G	possibly damaging	Het
Mttp	A	G	3: 137,817,505 (GRCm39)	F415S	probably benign	Het
Mug1	A	G	6: 121,864,386 (GRCm39)	T1428A	probably benign	Het
Nsd2	T	C	5: 34,037,472 (GRCm39)	L698P	probably damaging	Het
Or2w6	A	T	13: 21,843,001 (GRCm39)	M164K	probably damaging	Het
Or4p22	G	T	2: 88,317,519 (GRCm39)	V148F	probably benign	Het
Or5p70	A	G	7: 107,994,720 (GRCm39)	N131S	probably benign	Het
Or6c217	A	T	10: 129,738,287 (GRCm39)	C97*	probably null	Het
Osgepl1	G	A	1: 53,360,675 (GRCm39)	R372H	probably benign	Het
Pias2	C	T	18: 77,232,799 (GRCm39)	H537Y	probably damaging	Het
Slc38a7	A	C	8: 96,572,783 (GRCm39)	I149M	probably damaging	Het
Smn1	A	G	13: 100,264,472 (GRCm39)	T68A	probably benign	Het
Syde2	A	G	3: 145,707,231 (GRCm39)	K657R	possibly damaging	Het
Tdrd5	A	T	1: 156,098,190 (GRCm39)	H625Q	possibly damaging	Het
Tead3	T	C	17: 28,560,325 (GRCm39)	Y2C	probably damaging	Het
Tmem255a	T	A	X: 37,296,940 (GRCm39)	T280S	probably benign	Het
Ttpa	A	G	4: 20,021,215 (GRCm39)	T128A	possibly damaging	Het
Wdhd1	A	G	14: 47,509,591 (GRCm39)		probably null	Het

Other mutations in Mup6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01109:Mup6	APN	4	60,006,001 (GRCm39)	missense	probably damaging	1.00
IGL01333:Mup6	APN	4	60,005,529 (GRCm39)	missense	probably damaging	1.00
IGL01608:Mup6	APN	4	60,006,021 (GRCm39)	missense	probably benign	0.34
IGL02471:Mup6	APN	4	60,003,971 (GRCm39)	splice site	probably benign
IGL03070:Mup6	APN	4	60,003,999 (GRCm39)	missense	probably damaging	1.00
IGL03108:Mup6	APN	4	60,005,990 (GRCm39)	missense	possibly damaging	0.55
IGL03158:Mup6	APN	4	60,005,480 (GRCm39)	missense	possibly damaging	0.83
R0122:Mup6	UTSW	4	60,003,995 (GRCm39)	nonsense	probably null
R1271:Mup6	UTSW	4	60,003,579 (GRCm39)	intron	probably benign
R3434:Mup6	UTSW	4	60,004,116 (GRCm39)	splice site	probably null
R3435:Mup6	UTSW	4	60,004,116 (GRCm39)	splice site	probably null
R4258:Mup6	UTSW	4	60,004,812 (GRCm39)	critical splice acceptor site	probably null
R4465:Mup6	UTSW	4	60,004,000 (GRCm39)	missense	probably damaging	1.00
R4466:Mup6	UTSW	4	60,004,000 (GRCm39)	missense	probably damaging	1.00
R5021:Mup6	UTSW	4	59,964,352 (GRCm39)	missense	probably damaging	0.99
R5272:Mup6	UTSW	4	60,005,922 (GRCm39)	missense	probably damaging	0.99
R6396:Mup6	UTSW	4	60,004,837 (GRCm39)	missense	possibly damaging	0.84
R6861:Mup6	UTSW	4	60,004,093 (GRCm39)	missense	probably benign	0.02
R7818:Mup6	UTSW	4	60,004,884 (GRCm39)	missense	probably benign	0.05
R8238:Mup6	UTSW	4	60,003,634 (GRCm39)	missense	probably damaging	1.00
R9294:Mup6	UTSW	4	60,004,838 (GRCm39)	missense	probably benign	0.16

Posted On

2015-12-18