Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Not available question?

Stock #

IGL00955

Quality Score

Status

Chromosome

Chromosomal Location

60658466-60662411 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60659550 bp

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]

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: 61,311,242	Q167L	probably benign	Het
Ces3a	T	A	8: 105,050,570	V175E	probably damaging	Het
Cherp	C	T	8: 72,470,194	E140K	probably damaging	Het
Clpx	A	T	9: 65,324,270	T546S	probably damaging	Het
Csgalnact2	A	G	6: 118,129,264	L31P	probably damaging	Het
Cxcr1	A	T	1: 74,192,220	F214L	probably benign	Het
Cyp2c67	T	A	19: 39,643,385	T123S	possibly damaging	Het
Dbt	G	A	3: 116,546,114	G384S	probably benign	Het
Dzank1	G	A	2: 144,490,174	T414I	probably benign	Het
Erich3	A	G	3: 154,748,519	I641V	probably benign	Het
Gtf2e1	A	T	16: 37,535,920	D83E	possibly damaging	Het
Hars2	T	C	18: 36,789,357		probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Kcnh2	T	C	5: 24,324,966	D372G	probably damaging	Het
Kcnk2	A	T	1: 189,243,014	I264N	probably damaging	Het
Kctd4	A	G	14: 75,963,228	D213G	probably damaging	Het
Lhx9	T	C	1: 138,828,680	T323A	possibly damaging	Het
Lilra6	C	A	7: 3,911,404		probably benign	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mov10l1	A	G	15: 88,994,989	Y184C	probably damaging	Het
Mrpl24	T	A	3: 87,922,219	L91*	probably null	Het
Nbea	T	C	3: 56,005,472	K965E	possibly damaging	Het
Olfr598	C	A	7: 103,329,321	H278Q	probably damaging	Het
Papss1	G	A	3: 131,599,949	E252K	probably benign	Het
Robo2	A	T	16: 74,015,972	L278Q	probably damaging	Het
Sned1	A	T	1: 93,274,403	I638F	probably damaging	Het
Spin1	T	C	13: 51,144,541		probably null	Het
Taar9	T	C	10: 24,109,531	T2A	probably benign	Het
Tbc1d8b	T	C	X: 139,725,880		probably null	Het

Other mutations in Mup11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:Mup11	APN	4	60659780	missense	probably damaging	1.00
IGL01914:Mup11	APN	4	60659822	splice site	probably benign
IGL02991:Mup11	UTSW	4	60662276	small deletion	probably benign
R5980:Mup11	UTSW	4	60660888	missense	possibly damaging	0.67
R6164:Mup11	UTSW	4	60662240	missense	possibly damaging	0.49
R6589:Mup11	UTSW	4	60659541	missense	possibly damaging	0.68
R7208:Mup11	UTSW	4	60659726	missense	possibly damaging	0.80
R8072:Mup11	UTSW	4	60659778	missense	probably damaging	1.00
Z1176:Mup11	UTSW	4	60660215	missense	probably benign	0.02

Posted On

2013-04-17