Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01327:AY358078'

74346

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AY358078

Ensembl Gene

ENSMUSG00000050961

Gene Name

cDNA sequence AY358078

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL01327

Quality Score

Status

Chromosome

Chromosomal Location

51800046-51826359 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 51805709 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078129 (fasta)

Gene Model

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

AlphaFold

Q6UY53

Predicted Effect

probably benign
Transcript: ENSMUST00000053821

SMART Domains

Protein: ENSMUSP00000078129
Gene: ENSMUSG00000050961

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	A	4: 147,945,064	V497E	probably damaging	Het
4930563D23Rik	T	C	16: 92,320,773	Y209C	probably benign	Het
Adcy7	T	G	8: 88,318,790		probably benign	Het
Aldh1a2	T	A	9: 71,285,966	F486I	possibly damaging	Het
Alox12	T	A	11: 70,254,549	H66L	probably benign	Het
Apoh	T	G	11: 108,397,361	Y102D	probably damaging	Het
Arl9	T	C	5: 77,006,554	V43A	possibly damaging	Het
Atf6	A	G	1: 170,788,606		probably null	Het
Atp4a	T	A	7: 30,713,250	I127N	possibly damaging	Het
Baat	T	G	4: 49,490,338	K249Q	probably damaging	Het
Brat1	C	T	5: 140,718,208	Q739*	probably null	Het
C8g	A	G	2: 25,499,077	F165L	probably damaging	Het
Cel	T	G	2: 28,557,955	D353A	possibly damaging	Het
Col6a1	G	T	10: 76,710,979	T803K	unknown	Het
Cpxm1	A	G	2: 130,396,357	L95P	probably benign	Het
Ctsr	A	G	13: 61,162,675		probably benign	Het
Cyth1	A	G	11: 118,193,613		probably null	Het
Dync1h1	A	T	12: 110,616,692		probably benign	Het
Ezh1	C	T	11: 101,203,436	C407Y	probably damaging	Het
Gm3696	A	T	14: 7,090,701	W38R	probably benign	Het
Gm9611	T	C	14: 42,294,665	T39A	possibly damaging	Het
Gnpat	T	A	8: 124,878,633	L287H	probably damaging	Het
Golm1	G	T	13: 59,645,144	N182K	possibly damaging	Het
Hdac6	T	C	X: 7,931,774	M899V	probably benign	Het
Hsf3	T	A	X: 96,314,972	M272L	probably benign	Het
Kif19a	C	T	11: 114,781,799		probably benign	Het
Lcn2	T	G	2: 32,386,018	Y100S	possibly damaging	Het
Lrrc8d	T	A	5: 105,812,265	S180R	probably damaging	Het
Ly6h	A	G	15: 75,565,099		probably benign	Het
Macf1	T	C	4: 123,509,912	N705D	probably benign	Het
Mst1r	C	T	9: 107,907,844	P234S	probably benign	Het
Msto1	T	A	3: 88,910,632		probably null	Het
Myo5a	T	A	9: 75,187,538		probably benign	Het
Nipa1	T	C	7: 55,979,661	I235V	probably benign	Het
Nlgn3	T	C	X: 101,318,622	V399A	probably benign	Het
Olfr1367	A	G	13: 21,347,207	N93S	probably benign	Het
Olfr412	T	A	11: 74,364,912	M81K	possibly damaging	Het
Pih1d1	T	C	7: 45,159,975	S289P	probably benign	Het
Ppl	T	C	16: 5,087,644	N1596D	probably benign	Het
Psmb6	T	A	11: 70,526,586	S114R	possibly damaging	Het
Pum1	C	A	4: 130,730,543	Q289K	probably damaging	Het
Shkbp1	T	C	7: 27,355,251	I75V	probably benign	Het
Slc24a3	T	A	2: 145,602,558	I284N	probably benign	Het
Slc44a3	C	T	3: 121,527,193	G53D	probably damaging	Het
Slc9a4	A	C	1: 40,629,405	D736A	probably benign	Het
Stra6	A	G	9: 58,152,571	D605G	probably benign	Het
Tas2r126	T	A	6: 42,434,750	H72Q	probably benign	Het
Tbrg1	C	T	9: 37,653,112	R166Q	probably benign	Het
Thumpd1	C	T	7: 119,720,702	G14R	probably benign	Het
Ticrr	C	T	7: 79,694,461	T1358I	probably benign	Het
Tmtc2	A	T	10: 105,348,479	N518K	probably benign	Het
Trpm4	C	A	7: 45,315,073	W533C	probably damaging	Het
Tsen54	T	C	11: 115,821,712	Y119H	possibly damaging	Het
Tulp3	G	A	6: 128,327,634	T219M	probably damaging	Het
Usp19	T	C	9: 108,498,961	L1000S	possibly damaging	Het
Vps16	A	T	2: 130,437,696	Y43F	probably benign	Het
Vsig1	T	A	X: 140,937,680	V283E	possibly damaging	Het

Other mutations in AY358078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:AY358078	APN	14	51805552	missense	unknown
IGL02057:AY358078	APN	14	51820305	missense	unknown
IGL02498:AY358078	APN	14	51803487	missense	probably benign	0.00
FR4737:AY358078	UTSW	14	51805698	missense	unknown
R0140:AY358078	UTSW	14	51825942	missense	probably benign	0.12
R0466:AY358078	UTSW	14	51805632	missense	unknown
R0496:AY358078	UTSW	14	51803532	missense	unknown
R1546:AY358078	UTSW	14	51820419	splice site	probably null
R1793:AY358078	UTSW	14	51804594	missense	unknown
R1867:AY358078	UTSW	14	51800047	start codon destroyed	probably null	0.01
R1993:AY358078	UTSW	14	51826062	missense	probably damaging	1.00
R1994:AY358078	UTSW	14	51826062	missense	probably damaging	1.00
R1995:AY358078	UTSW	14	51826062	missense	probably damaging	1.00
R2184:AY358078	UTSW	14	51825988	missense	probably damaging	1.00
R2322:AY358078	UTSW	14	51804690	missense	unknown
R2441:AY358078	UTSW	14	51800089	missense	probably benign	0.00
R3851:AY358078	UTSW	14	51805553	missense	unknown
R3852:AY358078	UTSW	14	51805553	missense	unknown
R4600:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4603:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4610:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4611:AY358078	UTSW	14	51826075	missense	possibly damaging	0.89
R4916:AY358078	UTSW	14	51802651	missense	unknown
R5096:AY358078	UTSW	14	51826118	missense	probably benign	0.19
R5143:AY358078	UTSW	14	51802549	missense	unknown
R5609:AY358078	UTSW	14	51804608	missense	unknown
R5651:AY358078	UTSW	14	51822160	missense	unknown
R6345:AY358078	UTSW	14	51826292	missense	probably damaging	1.00
R6988:AY358078	UTSW	14	51826187	missense	probably damaging	0.99
R7340:AY358078	UTSW	14	51826259	missense	probably damaging	1.00
R8432:AY358078	UTSW	14	51822178	missense	unknown
R8684:AY358078	UTSW	14	51822140	nonsense	probably null
RF002:AY358078	UTSW	14	51805593	nonsense	probably null
RF017:AY358078	UTSW	14	51805593	nonsense	probably null
RF025:AY358078	UTSW	14	51805589	nonsense	probably null

Posted On

2013-10-07