Mutagenetix > Incidental Mutation

Incidental Mutation 'R6589:Mup11'

524498

Institutional Source

Beutler Lab

Gene Symbol

Mup11

Ensembl Gene

ENSMUSG00000073834

Gene Name

major urinary protein 11

Synonyms

Gm12549

MMRRC Submission

044713-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6589 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60614465-60618410 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60615540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 91 (Q91L)

Ref Sequence

ENSEMBL: ENSMUSP00000081592 (fasta)

Gene Model

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

AlphaFold

A2BIM8
P04938

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084544
AA Change: Q91L

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000081592
Gene: ENSMUSG00000073834
AA Change: Q91L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098046
AA Change: Q178L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000095654
Gene: ENSMUSG00000073834
AA Change: Q178L

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.0%

Validation Efficiency

100% (26/26)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	G	A	13: 112,485,397 (GRCm39)		probably null	Het
Asic2	G	T	11: 80,777,430 (GRCm39)	A427D	possibly damaging	Het
B3gnt2	T	A	11: 22,787,117 (GRCm39)	I24F	probably damaging	Het
BC030500	T	C	8: 59,365,956 (GRCm39)		probably benign	Het
Cdh4	G	A	2: 179,523,789 (GRCm39)		probably null	Het
Cramp1	T	C	17: 25,196,466 (GRCm39)		probably null	Het
Fam72a	A	T	1: 131,461,554 (GRCm39)	I80F	probably damaging	Het
Fbxo43	T	C	15: 36,162,686 (GRCm39)	T174A	probably damaging	Het
Fgf11	C	A	11: 69,690,261 (GRCm39)	V109L	probably damaging	Het
Fggy	A	G	4: 95,485,875 (GRCm39)	I74V	probably benign	Het
Fshr	T	C	17: 89,296,035 (GRCm39)	D224G	probably damaging	Het
Gm6465	A	G	5: 11,898,128 (GRCm39)	T81A	possibly damaging	Het
Hdac9	T	C	12: 34,265,028 (GRCm39)	E908G	probably damaging	Het
Hspa4l	T	G	3: 40,711,487 (GRCm39)	L121V	probably damaging	Het
Klk1b16	A	G	7: 43,790,894 (GRCm39)	D232G	probably benign	Het
Lpl	G	T	8: 69,349,459 (GRCm39)	M328I	probably benign	Het
Mgat4a	T	C	1: 37,483,976 (GRCm39)	E498G	probably damaging	Het
Myoc	T	A	1: 162,476,188 (GRCm39)	Y297*	probably null	Het
Or14j5	T	A	17: 38,161,727 (GRCm39)	Y81*	probably null	Het
Semp2l1	A	T	1: 32,585,792 (GRCm39)	D39E	probably benign	Het
Siva1	A	G	12: 112,613,272 (GRCm39)	E40G	probably damaging	Het
Smarca2	T	A	19: 26,597,284 (GRCm39)	H55Q	possibly damaging	Het
Taf1b	A	G	12: 24,606,527 (GRCm39)	E449G	possibly damaging	Het
Tafa2	T	A	10: 123,540,297 (GRCm39)	V51E	probably damaging	Het
Tcaf3	A	T	6: 42,570,995 (GRCm39)	N252K	possibly damaging	Het
Trim3	A	G	7: 105,267,167 (GRCm39)	L404P	probably damaging	Het
Vmn2r114	T	C	17: 23,510,642 (GRCm39)	T613A	probably damaging	Het
Vmn2r-ps158	T	A	7: 42,673,022 (GRCm39)	S142T	possibly damaging	Het
Zfp358	T	A	8: 3,545,907 (GRCm39)	F163Y	probably damaging	Het

Other mutations in Mup11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Mup11	APN	4	60,615,549 (GRCm39)	missense	probably benign	0.16
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCCAATCTTCAAGCTTTCC -3'
(R):5'- TGTGAGGAGCATGGAATCCTTAG -3'

Sequencing Primer
(F):5'- AAGCTTTCCTAGAAGATTCTTTATCG -3'
(R):5'- TCCAATGCCAGTAAGTCAGGATTCAG -3'

Posted On

2018-06-22