Mutagenetix > Incidental Mutation

Incidental Mutation 'R5021:Mup6'

389183

Institutional Source

Beutler Lab

Gene Symbol

Mup6

Ensembl Gene

ENSMUSG00000078689

Gene Name

major urinary protein 6

Synonyms

Gm12544

MMRRC Submission

042612-MU

Accession Numbers

Essential gene?

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

Stock #

R5021 (G1)

Quality Score

135

Status

Validated

Chromosome

Chromosomal Location

60003481-60007274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59964352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 18 (N18K)

Ref Sequence

ENSEMBL: ENSMUSP00000103145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075973] [ENSMUST00000107521]

AlphaFold

A2AV72

Predicted Effect

probably benign
Transcript: ENSMUST00000075973

SMART Domains

Protein: ENSMUSP00000075356
Gene: ENSMUSG00000041333

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Lipocalin	32	171	8.6e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107521
AA Change: N18K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: N18K

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.8%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano5	A	T	7: 51,205,933 (GRCm39)	T242S	probably benign	Het
B3gnt4	G	C	5: 123,649,010 (GRCm39)	R125P	probably damaging	Het
Blvrb	A	C	7: 27,147,543 (GRCm39)	M1L	probably benign	Het
Cep112	T	A	11: 108,361,154 (GRCm39)	H169Q	possibly damaging	Het
Clcn1	A	T	6: 42,287,922 (GRCm39)	K718*	probably null	Het
Clhc1	A	G	11: 29,510,627 (GRCm39)	N226S	probably benign	Het
Cpne1	T	C	2: 155,940,193 (GRCm39)		probably benign	Het
Cspg4	G	A	9: 56,805,014 (GRCm39)	V1942I	probably benign	Het
Decr2	A	T	17: 26,301,980 (GRCm39)	L250Q	probably damaging	Het
Depdc5	A	G	5: 33,136,758 (GRCm39)	T1343A	probably damaging	Het
Eed	A	T	7: 89,621,513 (GRCm39)	L45M	probably damaging	Het
Ep300	T	A	15: 81,524,224 (GRCm39)	S1351T	unknown	Het
Fam184b	T	A	5: 45,730,604 (GRCm39)	Q476L	probably benign	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Herc1	A	T	9: 66,377,608 (GRCm39)	K3458M	possibly damaging	Het
Ift122	A	G	6: 115,841,333 (GRCm39)	D39G	probably benign	Het
Igf2bp1	A	G	11: 95,864,832 (GRCm39)	Y206H	probably damaging	Het
Ighv1-19	T	C	12: 114,672,686 (GRCm39)	I6V	probably benign	Het
Itm2c	T	C	1: 85,833,059 (GRCm39)	I131T	probably damaging	Het
Kcnd3	A	T	3: 105,566,070 (GRCm39)	D417V	probably damaging	Het
Klf4	T	C	4: 55,530,970 (GRCm39)	E38G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lct	T	C	1: 128,228,302 (GRCm39)	M1064V	probably benign	Het
Map4	C	T	9: 109,867,157 (GRCm39)	Q265*	probably null	Het
Mcf2l	T	G	8: 13,061,808 (GRCm39)	V893G	probably damaging	Het
Mlst8	C	T	17: 24,696,193 (GRCm39)	D179N	possibly damaging	Het
Nbeal2	G	A	9: 110,466,531 (GRCm39)	R764W	probably damaging	Het
Ncoa6	A	T	2: 155,248,869 (GRCm39)	S1478R	probably benign	Het
Pcdhga1	C	A	18: 37,796,876 (GRCm39)	R627S	probably damaging	Het
Sacm1l	A	G	9: 123,411,393 (GRCm39)	D394G	probably damaging	Het
Schip1	A	G	3: 68,402,585 (GRCm39)	T221A	probably benign	Het
Slc35c1	A	G	2: 92,289,366 (GRCm39)	Y47H	possibly damaging	Het
Tspan32	A	G	7: 142,568,715 (GRCm39)	D70G	probably damaging	Het
Vmn2r68	T	C	7: 84,882,942 (GRCm39)	Y270C	possibly damaging	Het
Zfp777	A	G	6: 48,019,061 (GRCm39)	V291A	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGCTGTGTCAGTGTCAG -3'
(R):5'- GGACAAATGCCTGTTAGGATTTTCC -3'

Sequencing Primer
(F):5'- CAAGCCTGCATACTGGAGTCATG -3'
(R):5'- AAATGCCTGTTAGGATTTTCCAGTCC -3'

Posted On

2016-06-06