Mutagenetix > Incidental Mutation

Incidental Mutation 'R1582:Muc15'

171454

Institutional Source

Beutler Lab

Gene Symbol

Muc15

Ensembl Gene

ENSMUSG00000050808

Gene Name

mucin 15

Synonyms

D730046L02Rik

MMRRC Submission

039619-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R1582 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110551839-110569882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110567817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 321 (M321L)

Ref Sequence

ENSEMBL: ENSMUSP00000106645 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090332] [ENSMUST00000099623] [ENSMUST00000111016] [ENSMUST00000111017] [ENSMUST00000140777]

AlphaFold

Q8C6Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000090332
AA Change: M321L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000087805
Gene: ENSMUSG00000050808
AA Change: M321L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Mucin15	21	331	2.3e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099623

SMART Domains

Protein: ENSMUSP00000097219
Gene: ENSMUSG00000074968

Domain	Start	End	E-Value	Type
Pfam:Anoct_dimer	156	381	2.9e-70	PFAM
Pfam:Anoctamin	384	950	4.4e-138	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111016
AA Change: M321L

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106645
Gene: ENSMUSG00000050808
AA Change: M321L

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	93	108	N/A	INTRINSIC
low complexity region	163	181	N/A	INTRINSIC
transmembrane domain	235	257	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111017

SMART Domains

Protein: ENSMUSP00000106646
Gene: ENSMUSG00000050808

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	93	108	N/A	INTRINSIC
low complexity region	163	181	N/A	INTRINSIC
transmembrane domain	235	257	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000111019

SMART Domains

Protein: ENSMUSP00000106648
Gene: ENSMUSG00000074968

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	384	627	6.3e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140777

SMART Domains

Protein: ENSMUSP00000122387
Gene: ENSMUSG00000074968

Domain	Start	End	E-Value	Type
Pfam:Anoctamin	40	141	5.7e-24	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl1	C	G	2: 31,690,371 (GRCm39)	A630G	probably damaging	Het
Actr3	A	G	1: 125,333,662 (GRCm39)	Y202H	probably benign	Het
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Atl3	A	G	19: 7,494,264 (GRCm39)	T138A	probably damaging	Het
Bpifa2	T	C	2: 153,855,638 (GRCm39)	S188P	probably damaging	Het
Bsn	T	C	9: 107,982,291 (GRCm39)	T3821A	unknown	Het
Dcun1d2	A	G	8: 13,330,926 (GRCm39)	L68P	probably damaging	Het
Ddhd1	A	T	14: 45,842,566 (GRCm39)	L630I	probably damaging	Het
Ddx25	T	C	9: 35,457,272 (GRCm39)	T348A	probably damaging	Het
Dtnb	C	T	12: 3,823,554 (GRCm39)	T580M	possibly damaging	Het
Dysf	A	G	6: 84,074,749 (GRCm39)	S561G	probably damaging	Het
Ehbp1l1	A	G	19: 5,771,995 (GRCm39)	I101T	possibly damaging	Het
Erich3	T	C	3: 154,469,960 (GRCm39)		probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fam135a	T	C	1: 24,068,398 (GRCm39)	T611A	probably damaging	Het
Gpbp1	T	C	13: 111,573,066 (GRCm39)		probably null	Het
H2-Oa	A	T	17: 34,313,695 (GRCm39)	T218S	probably damaging	Het
Kctd19	G	A	8: 106,122,092 (GRCm39)	L152F	probably damaging	Het
Kdm5b	T	A	1: 134,552,591 (GRCm39)	M1189K	probably damaging	Het
Kif13a	A	G	13: 46,947,398 (GRCm39)	V862A	probably benign	Het
Lct	T	C	1: 128,228,299 (GRCm39)	T1065A	probably damaging	Het
Mark3	G	A	12: 111,621,744 (GRCm39)	A697T	probably benign	Het
Mosmo	A	G	7: 120,329,728 (GRCm39)	I116M	possibly damaging	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Naa25	T	A	5: 121,572,892 (GRCm39)	N670K	probably benign	Het
Or1e1c	T	A	11: 73,266,090 (GRCm39)	C172S	probably damaging	Het
Or5e1	G	T	7: 108,354,317 (GRCm39)	V85L	probably benign	Het
Or6z3	A	G	7: 6,463,813 (GRCm39)	M102V	probably benign	Het
Ppara	T	C	15: 85,682,429 (GRCm39)	I375T	possibly damaging	Het
Prss27	A	G	17: 24,263,877 (GRCm39)	I188V	probably benign	Het
Rbms1	A	T	2: 60,589,179 (GRCm39)	M287K	possibly damaging	Het
Relt	C	T	7: 100,500,560 (GRCm39)		probably null	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Smarca2	G	A	19: 26,729,305 (GRCm39)	D19N	probably damaging	Het
Sorbs2	G	A	8: 46,258,814 (GRCm39)	G620D	probably damaging	Het
Spata31d1c	C	A	13: 65,181,038 (GRCm39)	Q46K	probably benign	Het
Spata6	C	G	4: 111,637,992 (GRCm39)	S274*	probably null	Het
Spata6	C	T	4: 111,637,994 (GRCm39)	P275S	probably benign	Het
Tas2r108	T	A	6: 40,470,566 (GRCm39)	V14D	probably benign	Het
Thbs2	G	T	17: 14,891,550 (GRCm39)	P996T	probably damaging	Het
Tmem131l	T	C	3: 83,839,090 (GRCm39)	Q620R	probably damaging	Het
Ubap2l	A	G	3: 89,941,978 (GRCm39)	S203P	probably damaging	Het
Unc45b	G	A	11: 82,816,771 (GRCm39)	G404S	probably benign	Het
Uri1	A	G	7: 37,664,811 (GRCm39)	S292P	possibly damaging	Het
Usp21	A	T	1: 171,110,655 (GRCm39)	C444S	probably damaging	Het
Vmn1r117	A	T	7: 20,617,484 (GRCm39)	V188D	possibly damaging	Het
Vmn1r7	T	C	6: 57,002,143 (GRCm39)	D39G	probably damaging	Het
Wdr25	T	C	12: 108,863,980 (GRCm39)	F42L	possibly damaging	Het

Other mutations in Muc15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01978:Muc15	APN	2	110,561,941 (GRCm39)	missense	probably benign	0.00
IGL02547:Muc15	APN	2	110,561,650 (GRCm39)	missense	probably damaging	0.97
IGL02751:Muc15	APN	2	110,562,118 (GRCm39)	missense	probably benign	0.14
IGL03100:Muc15	APN	2	110,561,939 (GRCm39)	missense	probably damaging	0.99
IGL03188:Muc15	APN	2	110,562,044 (GRCm39)	missense	probably benign	0.14
R0684:Muc15	UTSW	2	110,564,160 (GRCm39)	missense	possibly damaging	0.95
R1472:Muc15	UTSW	2	110,561,905 (GRCm39)	missense	probably damaging	1.00
R1661:Muc15	UTSW	2	110,564,243 (GRCm39)	nonsense	probably null
R1665:Muc15	UTSW	2	110,564,243 (GRCm39)	nonsense	probably null
R1725:Muc15	UTSW	2	110,561,591 (GRCm39)	missense	probably damaging	0.96
R1815:Muc15	UTSW	2	110,561,603 (GRCm39)	missense	probably damaging	1.00
R1892:Muc15	UTSW	2	110,567,697 (GRCm39)	nonsense	probably null
R2022:Muc15	UTSW	2	110,561,821 (GRCm39)	missense	probably benign	0.00
R4546:Muc15	UTSW	2	110,567,844 (GRCm39)	missense	probably damaging	0.97
R4953:Muc15	UTSW	2	110,561,617 (GRCm39)	missense	probably damaging	0.99
R4984:Muc15	UTSW	2	110,561,918 (GRCm39)	missense	probably damaging	1.00
R5858:Muc15	UTSW	2	110,562,143 (GRCm39)	missense	probably damaging	1.00
R6046:Muc15	UTSW	2	110,561,786 (GRCm39)	nonsense	probably null
R6695:Muc15	UTSW	2	110,561,616 (GRCm39)	missense	probably damaging	1.00
R7468:Muc15	UTSW	2	110,561,862 (GRCm39)	missense	probably benign	0.02
R7725:Muc15	UTSW	2	110,562,143 (GRCm39)	missense	probably damaging	1.00
R8279:Muc15	UTSW	2	110,562,052 (GRCm39)	missense	probably benign
R8545:Muc15	UTSW	2	110,561,581 (GRCm39)	nonsense	probably null
R8752:Muc15	UTSW	2	110,561,758 (GRCm39)	missense	possibly damaging	0.94
R8923:Muc15	UTSW	2	110,562,212 (GRCm39)	missense	probably damaging	0.99
R8937:Muc15	UTSW	2	110,562,252 (GRCm39)	critical splice donor site	probably null
R9115:Muc15	UTSW	2	110,562,089 (GRCm39)	missense	probably damaging	0.99
R9535:Muc15	UTSW	2	110,562,007 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGTACCTGCTCATCACCTAGAACCG -3'
(R):5'- CGATGACAGATGCACCCTGCTTTTC -3'

Sequencing Primer
(F):5'- TGTAATCAGGTGTCAGAGCATCC -3'
(R):5'- GCTTTTCCTGCACATTTCCTG -3'

Posted On

2014-04-13