Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01109:Mup6'

50911

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: 0.065) question?

Stock #

IGL01109

Quality Score

Status

Chromosome

Chromosomal Location

60003481-60007274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60006001 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 156 (N156K)

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: N164K

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

SMART Domains

Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
AA Change: N164K

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: N164K

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

SMART Domains

Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
AA Change: N164K

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: N156K

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

SMART Domains

Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: N156K

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	T	C	18: 65,440,211 (GRCm39)	D861G	probably benign	Het
Anapc4	A	G	5: 53,005,970 (GRCm39)	T326A	probably damaging	Het
Atm	T	C	9: 53,401,593 (GRCm39)	I1425M	probably damaging	Het
Bend5	T	C	4: 111,305,838 (GRCm39)	L294P	probably damaging	Het
Casp7	T	A	19: 56,425,177 (GRCm39)	D193E	probably benign	Het
Cdc16	T	C	8: 13,814,606 (GRCm39)	V130A	probably benign	Het
Chl1	T	G	6: 103,692,354 (GRCm39)	Y331D	probably damaging	Het
Cntn1	C	A	15: 92,237,458 (GRCm39)	Y1017*	probably null	Het
Cyb5d1	C	A	11: 69,284,610 (GRCm39)		probably null	Het
Cyp2c38	A	G	19: 39,451,329 (GRCm39)		probably null	Het
Dzip3	T	C	16: 48,750,037 (GRCm39)	M827V	probably benign	Het
Ehd1	T	A	19: 6,348,177 (GRCm39)	M385K	possibly damaging	Het
Eya3	C	A	4: 132,420,311 (GRCm39)	Y52*	probably null	Het
Itsn1	C	T	16: 91,603,089 (GRCm39)		probably benign	Het
Ktn1	A	T	14: 47,952,178 (GRCm39)	N983I	probably damaging	Het
Lrrk2	T	A	15: 91,623,035 (GRCm39)	N1068K	probably damaging	Het
Nedd9	T	A	13: 41,469,710 (GRCm39)	H481L	probably benign	Het
Obscn	T	C	11: 59,024,588 (GRCm39)	D484G	probably damaging	Het
Ogdh	T	C	11: 6,298,790 (GRCm39)	V674A	probably damaging	Het
Or4a27	T	C	2: 88,559,409 (GRCm39)	D178G	probably damaging	Het
Or4f54	G	A	2: 111,122,864 (GRCm39)	D84N	probably benign	Het
Or5b113	A	G	19: 13,342,063 (GRCm39)	I24V	probably benign	Het
Or5d38	T	C	2: 87,955,023 (GRCm39)	Q102R	probably damaging	Het
Or8g53	T	C	9: 39,683,293 (GRCm39)	M268V	probably benign	Het
Or8k32	T	A	2: 86,368,674 (GRCm39)	D195V	probably benign	Het
Osbpl6	A	G	2: 76,379,871 (GRCm39)	T154A	probably damaging	Het
P2rx1	T	C	11: 72,899,041 (GRCm39)	V84A	probably damaging	Het
Pcdh11x	G	A	X: 119,310,611 (GRCm39)	V685I	possibly damaging	Het
Ppp4r3b	T	A	11: 29,138,288 (GRCm39)	V212E	probably damaging	Het
Prune2	A	G	19: 17,101,243 (GRCm39)	D2249G	probably benign	Het
Slc5a8	T	A	10: 88,742,254 (GRCm39)	S317T	possibly damaging	Het
Ssc5d	T	A	7: 4,940,111 (GRCm39)	L822*	probably null	Het
Swt1	A	G	1: 151,286,890 (GRCm39)	S201P	probably damaging	Het
Tet1	T	A	10: 62,715,553 (GRCm39)	M81L	probably benign	Het
Tex9	T	A	9: 72,395,349 (GRCm39)	N39I	probably damaging	Het
Ttc4	T	C	4: 106,520,360 (GRCm39)	Y378C	probably damaging	Het
Ubap2	T	C	4: 41,195,155 (GRCm39)	N1131S	probably damaging	Het
Ugt2b35	C	T	5: 87,156,165 (GRCm39)	T419I	probably damaging	Het
Ugt3a1	T	G	15: 9,367,354 (GRCm39)	F366V	probably damaging	Het
Zfp324	A	G	7: 12,703,362 (GRCm39)	T95A	probably benign	Het

Other mutations in Mup6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02932:Mup6	APN	4	60,006,009 (GRCm39)	missense	probably damaging	1.00
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

2013-06-21