Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00955:Mup11'

27299

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mup11

Ensembl Gene

ENSMUSG00000073834

Gene Name

major urinary protein 11

Synonyms

Gm12549

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

60614465-60618410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60615549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 175 (R175H)

Ref Sequence

ENSEMBL: ENSMUSP00000095654 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084544] [ENSMUST00000098046]

AlphaFold

A2BIM8
P04938

Predicted Effect

probably benign
Transcript: ENSMUST00000084544
AA Change: R88H

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000081592
Gene: ENSMUSG00000073834
AA Change: R88H

Domain	Start	End	E-Value	Type
Pfam:Lipocalin	1	87	2.9e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098046
AA Change: R175H

PolyPhen 2 Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000095654
Gene: ENSMUSG00000073834
AA Change: R175H

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
Pfam:Lipocalin	35	174	3.4e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154733

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arl11	A	T	14: 61,548,691 (GRCm39)	Q167L	probably benign	Het
Ces3a	T	A	8: 105,777,202 (GRCm39)	V175E	probably damaging	Het
Cherp	C	T	8: 73,224,038 (GRCm39)	E140K	probably damaging	Het
Clpx	A	T	9: 65,231,552 (GRCm39)	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,106,225 (GRCm39)	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,231,379 (GRCm39)	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,631,829 (GRCm39)	T123S	possibly damaging	Het
Dbt	G	A	3: 116,339,763 (GRCm39)	G384S	probably benign	Het
Dzank1	G	A	2: 144,332,094 (GRCm39)	T414I	probably benign	Het
Erich3	A	G	3: 154,454,156 (GRCm39)	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,356,282 (GRCm39)	D83E	possibly damaging	Het
Hars2	T	C	18: 36,922,410 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,529,964 (GRCm39)	D372G	probably damaging	Het
Kcnk2	A	T	1: 188,975,211 (GRCm39)	I264N	probably damaging	Het
Kctd4	A	G	14: 76,200,668 (GRCm39)	D213G	probably damaging	Het
Lhx9	T	C	1: 138,756,418 (GRCm39)	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,914,403 (GRCm39)		probably benign	Het
Meig1	T	C	2: 3,410,311 (GRCm39)	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,879,192 (GRCm39)	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,829,526 (GRCm39)	L91*	probably null	Het
Nbea	T	C	3: 55,912,893 (GRCm39)	K965E	possibly damaging	Het
Or52ab7	C	A	7: 102,978,528 (GRCm39)	H278Q	probably damaging	Het
Papss1	G	A	3: 131,305,710 (GRCm39)	E252K	probably benign	Het
Robo2	A	T	16: 73,812,860 (GRCm39)	L278Q	probably damaging	Het
Sned1	A	T	1: 93,202,125 (GRCm39)	I638F	probably damaging	Het
Spin1	T	C	13: 51,298,577 (GRCm39)		probably null	Het
Taar9	T	C	10: 23,985,429 (GRCm39)	T2A	probably benign	Het
Tbc1d8b	T	C	X: 138,626,629 (GRCm39)		probably null	Het

Other mutations in Mup11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Mup11	APN	4	60,615,779 (GRCm39)	missense	probably damaging	1.00
IGL01914:Mup11	APN	4	60,615,821 (GRCm39)	splice site	probably benign
IGL02991:Mup11	UTSW	4	60,618,275 (GRCm39)	small deletion	probably benign
R5980:Mup11	UTSW	4	60,616,887 (GRCm39)	missense	possibly damaging	0.67
R6164:Mup11	UTSW	4	60,618,239 (GRCm39)	missense	possibly damaging	0.49
R6589:Mup11	UTSW	4	60,615,540 (GRCm39)	missense	possibly damaging	0.68
R7208:Mup11	UTSW	4	60,615,725 (GRCm39)	missense	possibly damaging	0.80
R8072:Mup11	UTSW	4	60,615,777 (GRCm39)	missense	probably damaging	1.00
Z1176:Mup11	UTSW	4	60,616,214 (GRCm39)	missense	probably benign	0.02

Posted On

2013-04-17