Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Muc15'

297873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Muc15

Ensembl Gene

ENSMUSG00000050808

Gene Name

mucin 15

Synonyms

D730046L02Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

110551839-110569882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110561650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 29 (R29G)

Ref Sequence

ENSEMBL: ENSMUSP00000106645 (fasta)

Gene Model

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

AlphaFold

Q8C6Z1

Predicted Effect

probably damaging
Transcript: ENSMUST00000090332
AA Change: R29G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087805
Gene: ENSMUSG00000050808
AA Change: R29G

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 damaging
Transcript: ENSMUST00000111016
AA Change: R29G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106645
Gene: ENSMUSG00000050808
AA Change: R29G

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
AA Change: R29G

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106646
Gene: ENSMUSG00000050808
AA Change: R29G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	T	A	12: 53,187,479 (GRCm39)	L1631H	probably damaging	Het
Atf7ip	T	A	6: 136,580,274 (GRCm39)		probably benign	Het
Atp5po	A	T	16: 91,725,849 (GRCm39)	Y48N	probably damaging	Het
Birc6	T	G	17: 74,886,640 (GRCm39)	M656R	probably benign	Het
Camkk1	A	G	11: 72,929,259 (GRCm39)	R455G	probably benign	Het
Casr	A	T	16: 36,336,036 (GRCm39)	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,089,894 (GRCm39)	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,350,623 (GRCm39)		probably benign	Het
Cdc37	G	T	9: 21,051,262 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cstdc3	A	T	16: 36,132,888 (GRCm39)		probably benign	Het
Cyp4f15	A	G	17: 32,919,229 (GRCm39)	R351G	probably benign	Het
Dclk3	T	C	9: 111,298,091 (GRCm39)	I545T	probably damaging	Het
Dock4	A	G	12: 40,787,478 (GRCm39)	M798V	probably benign	Het
Gas7	A	T	11: 67,556,261 (GRCm39)	Q200L	probably damaging	Het
Ica1	T	C	6: 8,670,691 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,499,679 (GRCm39)	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970 (GRCm38)	T247S	probably benign	Het
Itgb7	A	G	15: 102,126,945 (GRCm39)	C497R	probably damaging	Het
Itm2c	T	C	1: 85,834,182 (GRCm39)	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,909,941 (GRCm39)	D98G	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Neb	T	A	2: 52,078,742 (GRCm39)	T142S	probably damaging	Het
Nipbl	G	A	15: 8,381,082 (GRCm39)	T570I	probably benign	Het
Nr5a2	T	A	1: 136,868,665 (GRCm39)	M196L	probably benign	Het
Nrp1	C	A	8: 129,219,512 (GRCm39)	F643L	probably benign	Het
Or52ad1	A	G	7: 102,995,451 (GRCm39)	F228S	probably damaging	Het
Or52z15	T	C	7: 103,331,973 (GRCm39)	I16T	probably benign	Het
Or5a3	A	T	19: 12,399,675 (GRCm39)	M1L	probably benign	Het
Or8h8	A	G	2: 86,753,372 (GRCm39)	F168S	probably damaging	Het
Osbpl9	C	T	4: 108,925,680 (GRCm39)	W446*	probably null	Het
Pced1a	T	C	2: 130,261,627 (GRCm39)	D342G	possibly damaging	Het
Pira13	T	C	7: 3,824,660 (GRCm39)	D573G	probably damaging	Het
Prkcd	C	A	14: 30,321,426 (GRCm39)	W555L	probably damaging	Het
Prpf31	T	C	7: 3,633,898 (GRCm39)	S78P	probably benign	Het
Psg27	T	C	7: 18,294,553 (GRCm39)	T285A	probably benign	Het
Retreg3	A	T	11: 100,997,204 (GRCm39)	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501 (GRCm39)	K282E	possibly damaging	Het
Septin8	G	T	11: 53,428,092 (GRCm39)	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,082,802 (GRCm39)	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301 (GRCm39)		probably benign	Het
Slco1a8	A	T	6: 141,936,116 (GRCm39)	L323Q	probably damaging	Het
Spats1	A	T	17: 45,785,743 (GRCm39)		probably benign	Het
Tcerg1l	C	T	7: 137,850,100 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,559,730 (GRCm39)	V21230A	probably damaging	Het
Ubxn11	A	C	4: 133,836,895 (GRCm39)	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,815,301 (GRCm39)	I979S	possibly damaging	Het
Zc3h6	T	A	2: 128,857,531 (GRCm39)	H683Q	probably benign	Het
Zfp1007	C	T	5: 109,826,628 (GRCm39)		probably null	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp629	T	C	7: 127,210,846 (GRCm39)		probably null	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
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
R1582:Muc15	UTSW	2	110,567,817 (GRCm39)	missense	probably benign	0.16
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

Posted On

2015-04-16