Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01799:Mup17'

155443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mup17

Ensembl Gene

ENSMUSG00000096688

Gene Name

major urinary protein 17

Synonyms

Gm12557

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01799

Quality Score

Status

Chromosome

Chromosomal Location

61510166-61514108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61511948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 109 (T109A)

Ref Sequence

ENSEMBL: ENSMUSP00000103108 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107484]

AlphaFold

B5X0G2

Predicted Effect

probably benign
Transcript: ENSMUST00000107484
AA Change: T109A

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000103108
Gene: ENSMUSG00000096688
AA Change: T109A

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Lipocalin	34	173	4.6e-34	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	T	A	13: 4,564,257 (GRCm39)		probably null	Het
Anp32a	A	G	9: 62,279,092 (GRCm39)	T35A	probably benign	Het
Dennd1a	A	G	2: 37,938,754 (GRCm39)	Y119H	probably damaging	Het
Evc	T	C	5: 37,482,258 (GRCm39)	I32V	possibly damaging	Het
Fbll1	A	C	11: 35,688,936 (GRCm39)	V109G	possibly damaging	Het
Gli3	T	C	13: 15,900,746 (GRCm39)	S1378P	probably benign	Het
Hcfc2	G	A	10: 82,536,825 (GRCm39)	C79Y	probably damaging	Het
Hdac5	A	T	11: 102,090,911 (GRCm39)	I741N	possibly damaging	Het
Heatr5a	T	C	12: 51,944,618 (GRCm39)	D1289G	probably benign	Het
Hyal5	T	A	6: 24,891,336 (GRCm39)	N383K	probably benign	Het
Itsn1	T	C	16: 91,645,770 (GRCm39)	L59P	probably damaging	Het
Lrrc8b	T	A	5: 105,633,757 (GRCm39)	L743Q	probably benign	Het
Micos10	G	T	4: 138,831,308 (GRCm39)		probably benign	Het
Mks1	A	T	11: 87,747,689 (GRCm39)	I191F	probably benign	Het
Mrc1	T	A	2: 14,243,187 (GRCm39)	N104K	probably damaging	Het
Ms4a6d	A	T	19: 11,567,499 (GRCm39)	I26N	probably damaging	Het
Mylk4	T	G	13: 32,965,674 (GRCm39)	E9A	probably benign	Het
Myo7b	C	T	18: 32,095,823 (GRCm39)	V1812M	probably damaging	Het
Nbas	T	C	12: 13,374,401 (GRCm39)		probably benign	Het
Ncoa2	T	C	1: 13,222,599 (GRCm39)		probably benign	Het
Nlrp4f	T	C	13: 65,335,276 (GRCm39)	H771R	probably benign	Het
Opa1	T	C	16: 29,435,476 (GRCm39)	V642A	possibly damaging	Het
Or9g3	T	A	2: 85,589,986 (GRCm39)	I245F	probably benign	Het
Pate12	T	C	9: 36,344,179 (GRCm39)	L54P	possibly damaging	Het
Pi4ka	C	A	16: 17,207,235 (GRCm39)	L23F	probably damaging	Het
Rerg	T	A	6: 137,033,376 (GRCm39)	K100*	probably null	Het
Sema6c	T	C	3: 95,078,142 (GRCm39)	V506A	probably damaging	Het
Slc15a1	T	G	14: 121,718,141 (GRCm39)	N246T	possibly damaging	Het
Sorcs1	A	G	19: 50,218,647 (GRCm39)		probably null	Het
Vmn2r118	A	G	17: 55,899,990 (GRCm39)	L638P	probably damaging	Het
Vmn2r80	G	A	10: 79,007,385 (GRCm39)	G454S	possibly damaging	Het

Other mutations in Mup17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1989:Mup17	UTSW	4	61,511,860 (GRCm39)	missense	probably benign	0.03
R6019:Mup17	UTSW	4	61,511,936 (GRCm39)	missense	probably benign	0.34
R7310:Mup17	UTSW	4	61,511,929 (GRCm39)	missense	possibly damaging	0.82
R7394:Mup17	UTSW	4	61,512,635 (GRCm39)	missense	probably benign	0.02
R7847:Mup17	UTSW	4	61,511,456 (GRCm39)	missense	probably benign	0.19
R8353:Mup17	UTSW	4	61,510,419 (GRCm39)	critical splice acceptor site	probably null
R9340:Mup17	UTSW	4	61,512,633 (GRCm39)	missense	probably benign	0.00
R9607:Mup17	UTSW	4	61,511,903 (GRCm39)	missense	probably benign

Posted On

2014-02-04