Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02212:Mup21'

285505

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mup21

Ensembl Gene

ENSMUSG00000066153

Gene Name

major urinary protein 21

Synonyms

Gm11208

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL02212

Quality Score

Status

Chromosome

Chromosomal Location

62066169-62069100 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 62066829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 137 (E137A)

Ref Sequence

ENSEMBL: ENSMUSP00000076899 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077719]

AlphaFold

Q80YX8

Predicted Effect

probably damaging
Transcript: ENSMUST00000077719
AA Change: E137A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076899
Gene: ENSMUSG00000066153
AA Change: E137A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Lipocalin	35	174	3.9e-37	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,079,233 (GRCm39)	D1079V	probably damaging	Het
Adam18	T	C	8: 25,127,195 (GRCm39)	H467R	probably benign	Het
Ambra1	T	G	2: 91,747,706 (GRCm39)	D1056E	probably damaging	Het
Aoah	A	C	13: 21,187,071 (GRCm39)	N456T	probably benign	Het
Batf2	T	A	19: 6,221,991 (GRCm39)	F267Y	probably damaging	Het
Bbs7	C	T	3: 36,648,558 (GRCm39)	V397I	probably benign	Het
Bbs9	T	A	9: 22,723,808 (GRCm39)	D824E	probably benign	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Brip1	A	T	11: 86,029,841 (GRCm39)	V601E	possibly damaging	Het
Bub1	A	G	2: 127,647,271 (GRCm39)	F773L	probably damaging	Het
Cadps	A	T	14: 12,522,345 (GRCm38)	D606E	possibly damaging	Het
Cenps	T	G	4: 149,213,303 (GRCm39)	D54A	probably damaging	Het
Cep170	T	A	1: 176,563,502 (GRCm39)	N1504I	probably damaging	Het
Cttnbp2	A	G	6: 18,382,748 (GRCm39)	V1340A	possibly damaging	Het
D630003M21Rik	A	T	2: 158,052,091 (GRCm39)	S667T	probably benign	Het
Defa38	C	T	8: 21,585,276 (GRCm39)		probably benign	Het
Dgkb	A	G	12: 38,189,413 (GRCm39)	Y272C	probably damaging	Het
Dlx3	A	G	11: 95,011,467 (GRCm39)	D107G	probably benign	Het
Drd3	A	T	16: 43,582,675 (GRCm39)	N56I	probably benign	Het
Elavl4	T	A	4: 110,063,609 (GRCm39)	I331F	probably damaging	Het
Fam167a	T	G	14: 63,700,078 (GRCm39)	S213A	probably damaging	Het
Fasn	A	T	11: 120,698,729 (GRCm39)	I2489N	probably damaging	Het
Fbxo43	T	C	15: 36,151,957 (GRCm39)	K587E	probably damaging	Het
Fscn2	A	G	11: 120,252,881 (GRCm39)	D116G	probably damaging	Het
Galm	T	C	17: 80,457,546 (GRCm39)	V194A	probably benign	Het
Gpr180	T	A	14: 118,397,588 (GRCm39)	F361I	probably damaging	Het
Gpx2	A	T	12: 76,839,682 (GRCm39)	C105*	probably null	Het
Gsdmc2	A	T	15: 63,699,911 (GRCm39)		probably benign	Het
Hes2	T	G	4: 152,244,982 (GRCm39)	S150R	probably damaging	Het
Ighv1-56	C	T	12: 115,206,417 (GRCm39)		probably benign	Het
Inhbb	A	T	1: 119,345,713 (GRCm39)	V192D	probably benign	Het
Itgal	A	T	7: 126,900,152 (GRCm39)	M137L	probably benign	Het
Jak2	A	G	19: 29,265,382 (GRCm39)	N470D	probably benign	Het
Jph1	T	C	1: 17,161,981 (GRCm39)	E227G	probably damaging	Het
Kcnj6	A	T	16: 94,633,346 (GRCm39)	I237N	probably damaging	Het
Kctd8	G	T	5: 69,498,031 (GRCm39)	P205Q	probably benign	Het
Klhdc1	A	T	12: 69,297,540 (GRCm39)	N37I	probably damaging	Het
Lrp2	T	A	2: 69,281,608 (GRCm39)	H3921L	probably benign	Het
Lrp8os2	T	C	4: 107,664,245 (GRCm39)		probably benign	Het
Man2a2	A	C	7: 80,012,056 (GRCm39)	D700E	probably benign	Het
Mast1	A	T	8: 85,648,026 (GRCm39)	L485Q	probably damaging	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Mptx2	T	A	1: 173,102,248 (GRCm39)	D147V	possibly damaging	Het
Mrpl9	T	A	3: 94,351,124 (GRCm39)		probably null	Het
Mutyh	T	A	4: 116,672,803 (GRCm39)	V52D	probably damaging	Het
Nalcn	T	A	14: 123,752,742 (GRCm39)	S340C	probably damaging	Het
Neb	A	G	2: 52,198,323 (GRCm39)	Y474H	probably damaging	Het
Nol8	A	G	13: 49,815,626 (GRCm39)	E560G	possibly damaging	Het
Ntn4	A	G	10: 93,480,711 (GRCm39)	D145G	possibly damaging	Het
Nup93	G	A	8: 95,038,290 (GRCm39)		probably null	Het
Or1j17	A	G	2: 36,578,194 (GRCm39)	Y60C	probably damaging	Het
Or2n1b	C	A	17: 38,459,746 (GRCm39)	T89K	probably benign	Het
Or2y14	A	T	11: 49,404,737 (GRCm39)	I91F	probably damaging	Het
Or52b2	C	T	7: 104,986,350 (GRCm39)	C191Y	probably damaging	Het
Pcdhb8	T	A	18: 37,489,465 (GRCm39)	V40E	possibly damaging	Het
Peg3	C	T	7: 6,714,415 (GRCm39)	R269H	probably benign	Het
Piwil1	T	A	5: 128,827,334 (GRCm39)	F648I	possibly damaging	Het
Psd4	A	T	2: 24,295,326 (GRCm39)	K827*	probably null	Het
Retsat	T	A	6: 72,578,693 (GRCm39)	L135*	probably null	Het
Rtp3	A	G	9: 110,816,389 (GRCm39)		probably benign	Het
Samd14	A	G	11: 94,914,176 (GRCm39)	Y305C	probably damaging	Het
Satb1	T	A	17: 52,082,319 (GRCm39)	Q445L	possibly damaging	Het
Shbg	A	G	11: 69,508,035 (GRCm39)	L110P	probably damaging	Het
Slc17a6	T	A	7: 51,317,218 (GRCm39)	I413N	possibly damaging	Het
Slu7	A	T	11: 43,331,469 (GRCm39)	Q201L	probably benign	Het
Spg11	T	C	2: 121,938,638 (GRCm39)	T439A	probably benign	Het
Sstr5	A	T	17: 25,710,647 (GRCm39)	L194Q	possibly damaging	Het
Tjp2	A	T	19: 24,116,150 (GRCm39)	L13Q	probably damaging	Het
Tnk2	G	A	16: 32,498,960 (GRCm39)	V758I	probably damaging	Het
Ttll8	C	A	15: 88,801,450 (GRCm39)	V413L	probably benign	Het
Wiz	T	C	17: 32,587,109 (GRCm39)	D67G	probably damaging	Het

Other mutations in Mup21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03158:Mup21	APN	4	62,068,525 (GRCm39)	missense	probably benign	0.08
FR4548:Mup21	UTSW	4	62,067,583 (GRCm39)	critical splice donor site	probably benign
FR4548:Mup21	UTSW	4	62,067,582 (GRCm39)	critical splice donor site	probably benign
FR4976:Mup21	UTSW	4	62,067,587 (GRCm39)	critical splice donor site	probably benign
R0669:Mup21	UTSW	4	62,068,964 (GRCm39)	missense	unknown
R0795:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0797:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0802:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0803:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0805:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0808:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0810:Mup21	UTSW	4	62,066,478 (GRCm39)	nonsense	probably null
R0845:Mup21	UTSW	4	62,068,547 (GRCm39)	missense	probably damaging	1.00
R1288:Mup21	UTSW	4	62,068,934 (GRCm39)	missense	probably benign	0.03
R1876:Mup21	UTSW	4	62,067,663 (GRCm39)	missense	probably benign	0.05
R4923:Mup21	UTSW	4	62,066,202 (GRCm39)	missense	probably benign	0.00
R5713:Mup21	UTSW	4	62,068,511 (GRCm39)	missense	probably damaging	0.99
R7312:Mup21	UTSW	4	62,068,468 (GRCm39)	missense	probably benign	0.15
RF011:Mup21	UTSW	4	62,067,582 (GRCm39)	critical splice donor site	probably benign
RF047:Mup21	UTSW	4	62,067,582 (GRCm39)	critical splice donor site	probably benign
X0022:Mup21	UTSW	4	62,068,480 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16