Mutagenetix > Incidental Mutation

Incidental Mutation 'R6173:Mup20'

489127

Institutional Source

Beutler Lab

Gene Symbol

Mup20

Ensembl Gene

ENSMUSG00000078672

Gene Name

major urinary protein 20

Synonyms

darcin

MMRRC Submission

044316-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.033) question?

Stock #

R6173 (G1)

Quality Score

86.0076

Status

Not validated

Chromosome

Chromosomal Location

61968471-61972395 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61972267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 7 (L7Q)

Ref Sequence

ENSEMBL: ENSMUSP00000073667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074018]

AlphaFold

Q5FW60

PDB Structure

Structural insights into the specificity of darcin, an atypical major urinary protein. [SOLUTION NMR]

Predicted Effect

unknown
Transcript: ENSMUST00000074018
AA Change: L7Q

SMART Domains

Protein: ENSMUSP00000073667
Gene: ENSMUSG00000078672
AA Change: L7Q

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Lipocalin	35	174	2.5e-36	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	T	C	3: 126,846,395 (GRCm39)	D219G	probably damaging	Het
Arap2	A	T	5: 62,906,965 (GRCm39)	I18N	probably damaging	Het
Baz1b	T	C	5: 135,271,361 (GRCm39)	S1315P	probably benign	Het
Bbs7	A	T	3: 36,646,523 (GRCm39)	C432*	probably null	Het
Bend3	A	G	10: 43,385,864 (GRCm39)	T86A	probably benign	Het
Cadm2	C	T	16: 66,679,729 (GRCm39)	V35I	probably benign	Het
Ch25h	A	G	19: 34,451,896 (GRCm39)	S211P	probably damaging	Het
Chd5	A	T	4: 152,463,848 (GRCm39)	H1476L	probably damaging	Het
Chia1	T	C	3: 106,036,338 (GRCm39)		probably null	Het
Clpx	C	A	9: 65,209,161 (GRCm39)	S92*	probably null	Het
Dazl	A	T	17: 50,594,599 (GRCm39)	M152K	probably benign	Het
Dnah17	A	G	11: 117,930,772 (GRCm39)	S3748P	probably damaging	Het
Dock2	T	C	11: 34,212,388 (GRCm39)	K1251R	probably null	Het
Esr1	T	C	10: 4,696,760 (GRCm39)	V203A	probably damaging	Het
F830045P16Rik	A	G	2: 129,305,588 (GRCm39)	I262T	probably damaging	Het
Foxp1	G	A	6: 98,992,471 (GRCm39)	Q41*	probably null	Het
Foxp1	C	A	6: 98,992,475 (GRCm39)		probably null	Het
Fshb	T	C	2: 106,887,638 (GRCm39)	E127G	possibly damaging	Het
Galk2	A	G	2: 125,701,137 (GRCm39)		probably benign	Het
Gid4	A	G	11: 60,323,241 (GRCm39)	D111G	probably damaging	Het
Gm14412	G	A	2: 177,006,330 (GRCm39)	P522S	probably damaging	Het
Iqank1	A	G	15: 75,917,237 (GRCm39)	E290G	probably damaging	Het
Mfap4	A	G	11: 61,376,245 (GRCm39)		probably null	Het
Mfsd2a	A	G	4: 122,845,039 (GRCm39)	V224A	probably benign	Het
Mocos	A	T	18: 24,809,639 (GRCm39)	Y414F	probably benign	Het
Mrto4	T	C	4: 139,077,755 (GRCm39)	I27V	probably benign	Het
Muc4	A	G	16: 32,554,958 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,840,752 (GRCm39)	I534N	probably damaging	Het
Nlrp2	T	C	7: 5,340,808 (GRCm39)	E2G	probably damaging	Het
Or11g1	A	G	14: 50,651,654 (GRCm39)	I218V	possibly damaging	Het
Or12k7	A	G	2: 36,959,091 (GRCm39)	Y258C	possibly damaging	Het
Or2y16	T	C	11: 49,335,299 (GRCm39)	V207A	probably benign	Het
Or6z5	C	T	7: 6,477,835 (GRCm39)	A242V	probably damaging	Het
Parn	T	C	16: 13,469,675 (GRCm39)	T209A	possibly damaging	Het
Psip1	T	A	4: 83,391,286 (GRCm39)		probably null	Het
Ptprc	A	C	1: 137,995,628 (GRCm39)	C1157G	probably damaging	Het
Rad17	A	C	13: 100,759,389 (GRCm39)	V546G	probably benign	Het
Rc3h2	GCC	GCCC	2: 37,304,745 (GRCm39)		probably null	Het
Safb	A	G	17: 56,904,798 (GRCm39)	E124G	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Skint5	T	C	4: 113,392,907 (GRCm39)	T1242A	unknown	Het
Slc13a5	C	T	11: 72,144,023 (GRCm39)	E352K	probably benign	Het
Sohlh2	G	T	3: 55,104,419 (GRCm39)	V263F	probably benign	Het
Strn	A	G	17: 79,008,298 (GRCm39)	Y107H	probably damaging	Het
Tbx15	G	T	3: 99,161,203 (GRCm39)	E3*	probably null	Het
Tespa1	A	G	10: 130,183,172 (GRCm39)	D39G	probably benign	Het
Trp73	A	T	4: 154,188,798 (GRCm39)	D54E	probably damaging	Het
Ttll5	A	T	12: 85,980,151 (GRCm39)	S912C	probably damaging	Het
Utp14b	A	T	1: 78,643,554 (GRCm39)	D484V	probably benign	Het
Utp14b	A	C	1: 78,643,557 (GRCm39)	N485T	probably benign	Het
Vmn2r29	T	C	7: 7,234,369 (GRCm39)	E839G	probably benign	Het
Vmn2r6	G	C	3: 64,467,176 (GRCm39)	P108A	probably damaging	Het
Vps8	T	G	16: 21,314,682 (GRCm39)		probably null	Het
Zfp36l1	A	T	12: 80,156,320 (GRCm39)		probably null	Het
Zfp998	T	A	13: 66,579,608 (GRCm39)	T292S	probably benign	Het
Zp3r	A	T	1: 130,519,305 (GRCm39)		probably null	Het

Other mutations in Mup20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02465:Mup20	APN	4	61,970,237 (GRCm39)	missense	possibly damaging	0.89
IGL02604:Mup20	APN	4	61,970,141 (GRCm39)	missense	probably damaging	0.98
R5207:Mup20	UTSW	4	61,969,823 (GRCm39)	splice site	probably null
R8194:Mup20	UTSW	4	61,971,721 (GRCm39)	missense	probably benign	0.01
R8364:Mup20	UTSW	4	61,969,768 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TTGGGGCACTATACTCATCCATTC -3'
(R):5'- CATTCCACAAAGCCTGATGGAAG -3'

Sequencing Primer
(F):5'- ATCCATTCAAAGGGCCTACTTGG -3'
(R):5'- CCTGATGGAAGTAGACCGATACC -3'

Posted On

2017-10-10