Mutagenetix > Incidental Mutation

Incidental Mutation 'R5272:Mup6'

486796

Institutional Source

Beutler Lab

Gene Symbol

Mup6

Ensembl Gene

ENSMUSG00000078689

Gene Name

major urinary protein 6

Synonyms

Gm12544

MMRRC Submission

042836-MU

Accession Numbers

Essential gene?

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

Stock #

R5272 (G1)

Quality Score

185

Status

Not validated

Chromosome

Chromosomal Location

60003481-60007274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 60005922 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Alanine at position 138 (G138A)

Ref Sequence

ENSEMBL: ENSMUSP00000103144 (fasta)

Gene Model

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

AlphaFold

A2AV72

Predicted Effect

probably damaging
Transcript: ENSMUST00000107517
AA Change: G138A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103141
Gene: ENSMUSG00000078689
AA Change: G138A

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: G138A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103144
Gene: ENSMUSG00000078689
AA Change: G138A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107521
AA Change: G130A

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103145
Gene: ENSMUSG00000078689
AA Change: G130A

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	A	G	3: 32,772,759 (GRCm39)	E245G	probably damaging	Het
Arsb	A	T	13: 93,930,670 (GRCm39)	T213S	possibly damaging	Het
Cep152	G	A	2: 125,452,950 (GRCm39)	T374I	probably benign	Het
Crx	C	T	7: 15,602,210 (GRCm39)	C156Y	probably damaging	Het
Csmd1	T	A	8: 16,249,958 (GRCm39)	T1007S	probably damaging	Het
Cyp19a1	A	T	9: 54,083,898 (GRCm39)	C164S	probably benign	Het
Ddx55	A	T	5: 124,696,092 (GRCm39)	I137F	possibly damaging	Het
Dgkg	C	A	16: 22,407,044 (GRCm39)		probably null	Het
Dicer1	A	G	12: 104,670,499 (GRCm39)	I1022T	probably damaging	Het
Dis3l2	T	C	1: 86,901,126 (GRCm39)	V439A	possibly damaging	Het
Dnah5	T	C	15: 28,350,811 (GRCm39)	V2611A	probably benign	Het
Dnah6	A	G	6: 73,104,844 (GRCm39)		probably null	Het
Ercc6	A	T	14: 32,240,985 (GRCm39)	K170*	probably null	Het
Fibcd1	A	T	2: 31,706,635 (GRCm39)	C399S	probably damaging	Het
Fibcd1	G	T	2: 31,706,636 (GRCm39)	N398K	probably damaging	Het
Fnbp4	G	A	2: 90,583,459 (GRCm39)	M327I	probably benign	Het
Fryl	A	T	5: 73,222,479 (GRCm39)	L256*	probably null	Het
Galr1	T	A	18: 82,423,761 (GRCm39)	Y172F	probably benign	Het
Gpi1	T	C	7: 33,920,115 (GRCm39)	N186S	probably damaging	Het
Kcnh8	A	G	17: 53,212,043 (GRCm39)	I614V	probably damaging	Het
Krt23	A	T	11: 99,369,099 (GRCm39)	I398N	probably damaging	Het
Mia3	G	A	1: 183,109,125 (GRCm39)	R656*	probably null	Het
Nectin3	A	G	16: 46,268,839 (GRCm39)	V521A	possibly damaging	Het
Nhsl3	T	C	4: 129,118,005 (GRCm39)	T208A	possibly damaging	Het
Nphs1	A	G	7: 30,181,067 (GRCm39)	E1096G	possibly damaging	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Panx1	C	T	9: 14,956,152 (GRCm39)		probably null	Het
Pcdhb4	A	G	18: 37,440,819 (GRCm39)	Y43C	probably benign	Het
Plbd1	A	G	6: 136,617,156 (GRCm39)	Y62H	probably damaging	Het
Rab40b	A	G	11: 121,248,134 (GRCm39)	V190A	probably damaging	Het
Ryr3	T	C	2: 112,483,558 (GRCm39)	E4063G	probably damaging	Het
Smlr1	T	C	10: 25,411,925 (GRCm39)	I21V	probably benign	Het
Tenm4	T	A	7: 96,523,410 (GRCm39)	Y1614N	probably damaging	Het
Tesmin	C	A	19: 3,456,992 (GRCm39)	A257E	probably damaging	Het
Tgif1	A	G	17: 71,153,249 (GRCm39)	L34P	probably damaging	Het
Ticrr	C	A	7: 79,319,353 (GRCm39)	T446K	probably benign	Het
Tmc7	A	G	7: 118,160,276 (GRCm39)	I187T	probably benign	Het
Tpst2	T	A	5: 112,455,818 (GRCm39)	V119E	probably damaging	Het
Trf	A	T	9: 103,105,177 (GRCm39)	M45K	probably damaging	Het
Trim45	T	C	3: 100,837,235 (GRCm39)	C524R	probably damaging	Het
Ttc27	G	A	17: 75,049,972 (GRCm39)	V293I	probably damaging	Het
Ugt1a6b	C	T	1: 88,034,949 (GRCm39)	R96C	possibly damaging	Het
Vit	A	G	17: 78,894,264 (GRCm39)	Q222R	probably benign	Het
Zfp148	T	A	16: 33,316,594 (GRCm39)	V380D	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
R5021:Mup6	UTSW	4	59,964,352 (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'- CATCATCCCTCGAGCATAGTG -3'
(R):5'- AAATGACTGGTAGCCAACTGGG -3'

Sequencing Primer
(F):5'- GGAAGCACTCTGAAATCTCTCAGTG -3'
(R):5'- AGCCAACTGGGTTTGTTTCC -3'

Posted On

2017-08-17