Mutagenetix > Incidental Mutation

Incidental Mutation 'R5609:AY358078'

457991

Institutional Source

Beutler Lab

Gene Symbol

AY358078

Ensembl Gene

ENSMUSG00000050961

Gene Name

cDNA sequence AY358078

Synonyms

MMRRC Submission

043158-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5609 (G1)

Quality Score

199

Status

Not validated

Chromosome

Chromosomal Location

52037503-52063816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52042065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 147 (T147A)

Ref Sequence

ENSEMBL: ENSMUSP00000078129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053821]

AlphaFold

Q6UY53

Predicted Effect

unknown
Transcript: ENSMUST00000053821
AA Change: T147A

SMART Domains

Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961
AA Change: T147A

Domain	Start	End	E-Value	Type
Pfam:Takusan	91	171	5.5e-26	PFAM
coiled coil region	187	220	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,353,874 (GRCm39)	I3732T	probably benign	Het
Ago1	C	A	4: 126,354,830 (GRCm39)	K127N	possibly damaging	Het
Akap8l	T	C	17: 32,557,374 (GRCm39)	N79S	probably damaging	Het
Ano5	T	C	7: 51,243,385 (GRCm39)	L836P	probably damaging	Het
Cabp4	T	C	19: 4,189,251 (GRCm39)	D102G	probably benign	Het
Cdc34	C	T	10: 79,520,655 (GRCm39)	R61C	probably damaging	Het
Chac1	A	G	2: 119,181,887 (GRCm39)	K2E	unknown	Het
Cltc	C	T	11: 86,621,093 (GRCm39)	V305I	probably damaging	Het
Cog7	T	C	7: 121,524,683 (GRCm39)	T704A	probably benign	Het
Cux1	A	G	5: 136,421,174 (GRCm39)	V184A	probably damaging	Het
Daglb	A	T	5: 143,464,274 (GRCm39)	T262S	probably benign	Het
Dglucy	A	G	12: 100,753,905 (GRCm39)	I12V	probably null	Het
Dnah7a	A	G	1: 53,621,753 (GRCm39)	V1124A	probably benign	Het
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Eif3k	C	A	7: 28,681,133 (GRCm39)	A9S	probably benign	Het
Elapor1	T	A	3: 108,378,731 (GRCm39)	I408F	probably damaging	Het
Gli3	A	T	13: 15,723,038 (GRCm39)	M60L	possibly damaging	Het
Hk1	C	T	10: 62,178,330 (GRCm39)	E4K	probably benign	Het
Kmt2b	C	A	7: 30,276,570 (GRCm39)	V1701L	probably damaging	Het
Lrp1b	T	C	2: 41,231,807 (GRCm39)	H1107R	probably damaging	Het
Lypd10	A	T	7: 24,413,711 (GRCm39)	R242S	possibly damaging	Het
Ncor1	A	G	11: 62,249,679 (GRCm39)		probably null	Het
Or5h23	T	A	16: 58,906,439 (GRCm39)	M136L	possibly damaging	Het
Or6c70	T	G	10: 129,710,607 (GRCm39)	R6S	probably benign	Het
Plekhg4	G	A	8: 106,106,134 (GRCm39)		probably null	Het
Pmfbp1	G	T	8: 110,251,739 (GRCm39)	E327D	probably damaging	Het
Slc22a17	G	A	14: 55,146,427 (GRCm39)	P63L	probably damaging	Het
Slc37a1	G	A	17: 31,556,982 (GRCm39)	V383M	possibly damaging	Het
Slc9a9	T	A	9: 94,691,990 (GRCm39)	Y182N	probably damaging	Het
Slx4ip	A	G	2: 136,842,162 (GRCm39)	D29G	probably damaging	Het
St3gal5	T	C	6: 72,130,446 (GRCm39)	V319A	possibly damaging	Het
Tbc1d10c	C	T	19: 4,239,881 (GRCm39)	M76I	possibly damaging	Het
Thrb	C	A	14: 18,033,526 (GRCm38)	H416N	probably benign	Het
Timp2	T	A	11: 118,210,987 (GRCm39)	D60V	probably damaging	Het
Ubxn6	C	T	17: 56,376,745 (GRCm39)	E216K	probably benign	Het
Unc79	T	C	12: 103,094,527 (GRCm39)	M1977T	probably benign	Het
Uri1	G	A	7: 37,662,954 (GRCm39)	R347*	probably null	Het
Vmn1r73	G	A	7: 11,490,591 (GRCm39)	W136*	probably null	Het
Vmn2r124	T	C	17: 18,294,102 (GRCm39)	Y730H	probably benign	Het
Wnk4	C	T	11: 101,166,462 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,468,679 (GRCm39)	N2971D	probably damaging	Het

Other mutations in AY358078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:AY358078	APN	14	52,043,166 (GRCm39)	splice site	probably benign
IGL02053:AY358078	APN	14	52,043,009 (GRCm39)	missense	unknown
IGL02057:AY358078	APN	14	52,057,762 (GRCm39)	missense	unknown
IGL02498:AY358078	APN	14	52,040,944 (GRCm39)	missense	probably benign	0.00
FR4737:AY358078	UTSW	14	52,043,155 (GRCm39)	missense	unknown
R0140:AY358078	UTSW	14	52,063,399 (GRCm39)	missense	probably benign	0.12
R0466:AY358078	UTSW	14	52,043,089 (GRCm39)	missense	unknown
R0496:AY358078	UTSW	14	52,040,989 (GRCm39)	missense	unknown
R1546:AY358078	UTSW	14	52,057,876 (GRCm39)	splice site	probably null
R1793:AY358078	UTSW	14	52,042,051 (GRCm39)	missense	unknown
R1867:AY358078	UTSW	14	52,037,504 (GRCm39)	start codon destroyed	probably null	0.01
R1993:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R1994:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R1995:AY358078	UTSW	14	52,063,519 (GRCm39)	missense	probably damaging	1.00
R2184:AY358078	UTSW	14	52,063,445 (GRCm39)	missense	probably damaging	1.00
R2322:AY358078	UTSW	14	52,042,147 (GRCm39)	missense	unknown
R2441:AY358078	UTSW	14	52,037,546 (GRCm39)	missense	probably benign	0.00
R3851:AY358078	UTSW	14	52,043,010 (GRCm39)	missense	unknown
R3852:AY358078	UTSW	14	52,043,010 (GRCm39)	missense	unknown
R4600:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4603:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4610:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4611:AY358078	UTSW	14	52,063,532 (GRCm39)	missense	possibly damaging	0.89
R4916:AY358078	UTSW	14	52,040,108 (GRCm39)	missense	unknown
R5096:AY358078	UTSW	14	52,063,575 (GRCm39)	missense	probably benign	0.19
R5143:AY358078	UTSW	14	52,040,006 (GRCm39)	missense	unknown
R5651:AY358078	UTSW	14	52,059,617 (GRCm39)	missense	unknown
R6345:AY358078	UTSW	14	52,063,749 (GRCm39)	missense	probably damaging	1.00
R6988:AY358078	UTSW	14	52,063,644 (GRCm39)	missense	probably damaging	0.99
R7340:AY358078	UTSW	14	52,063,716 (GRCm39)	missense	probably damaging	1.00
R8432:AY358078	UTSW	14	52,059,635 (GRCm39)	missense	unknown
R8684:AY358078	UTSW	14	52,059,597 (GRCm39)	nonsense	probably null
RF002:AY358078	UTSW	14	52,043,050 (GRCm39)	nonsense	probably null
RF017:AY358078	UTSW	14	52,043,050 (GRCm39)	nonsense	probably null
RF025:AY358078	UTSW	14	52,043,046 (GRCm39)	nonsense	probably null

Predicted Primers

Posted On

2017-02-16