Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01778:BC030867'

278862

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC030867

Ensembl Gene

ENSMUSG00000034773

Gene Name

cDNA sequence BC030867

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.476) question?

Stock #

IGL01778

Quality Score

Status

Chromosome

Chromosomal Location

102248882-102265187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102255596 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 233 (C233R)

Ref Sequence

ENSEMBL: ENSMUSP00000137686 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100392] [ENSMUST00000133930]

Predicted Effect

probably benign
Transcript: ENSMUST00000100392
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: C233R

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	458	541	4.4e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133930
AA Change: C233R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: C233R

Domain	Start	End	E-Value	Type
low complexity region	8	25	N/A	INTRINSIC
low complexity region	100	108	N/A	INTRINSIC
low complexity region	302	317	N/A	INTRINSIC
Pfam:DUF4539	457	542	3.2e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152897

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	C	4: 154,666,705	K325E	probably benign	Het
Arc	C	T	15: 74,672,355	M6I	probably benign	Het
Atp7b	A	T	8: 21,994,828	D1404E	probably benign	Het
Cdk5rap1	T	A	2: 154,366,036	N156I	probably damaging	Het
Ctsa	T	C	2: 164,834,310		probably benign	Het
Depdc1b	T	G	13: 108,362,327	N181K	probably benign	Het
Epg5	T	C	18: 78,019,274	V1994A	probably damaging	Het
Epyc	T	A	10: 97,681,237	C312*	probably null	Het
Erv3	T	A	2: 131,855,957	R161*	probably null	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gfra3	T	C	18: 34,691,591	T280A	possibly damaging	Het
Gldn	A	T	9: 54,334,492		probably null	Het
Gm6768	T	C	12: 119,262,496		noncoding transcript	Het
Gtf3c4	G	A	2: 28,835,088	R211C	probably damaging	Het
Hsh2d	A	G	8: 72,193,507	D16G	probably damaging	Het
Klk15	T	A	7: 43,938,838	M190K	probably damaging	Het
Klri1	A	G	6: 129,717,047	S26P	possibly damaging	Het
Krt78	T	A	15: 101,950,967	D265V	probably damaging	Het
Lgr5	A	C	10: 115,462,702	I355S	probably damaging	Het
Lig3	T	A	11: 82,794,541	V595D	probably damaging	Het
Map2k6	A	C	11: 110,512,869		probably benign	Het
Mdm4	A	G	1: 132,994,547	S286P	probably benign	Het
Olfr320	A	G	11: 58,684,269	Y132C	probably damaging	Het
Pofut1	T	A	2: 153,248,528	M114K	probably damaging	Het
Rdh13	C	T	7: 4,430,389		probably null	Het
Reg3g	T	A	6: 78,466,833	I131F	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc8a2	T	A	7: 16,158,893	F827I	probably damaging	Het
Slfn9	A	T	11: 82,987,374	C310S	probably damaging	Het
Sypl	A	G	12: 32,975,642	Y235C	probably damaging	Het
Trav7-4	A	T	14: 53,461,641	T82S	possibly damaging	Het
Trim28	T	A	7: 13,030,702	V782D	probably damaging	Het
Ttn	G	A	2: 76,744,898	T25217M	probably damaging	Het
Usp6nl	A	G	2: 6,427,570	T260A	possibly damaging	Het
Vmn2r54	A	T	7: 12,632,082	N308K	probably benign	Het
Xdh	T	C	17: 73,900,280	E986G	probably benign	Het
Zfp770	T	C	2: 114,196,238	D450G	probably damaging	Het
Zw10	T	G	9: 49,069,615	S438R	probably benign	Het

Other mutations in BC030867

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:BC030867	APN	11	102255957	missense	possibly damaging	0.95
IGL01645:BC030867	APN	11	102255186	missense	probably damaging	1.00
IGL01750:BC030867	APN	11	102254951	splice site	probably benign
IGL01759:BC030867	APN	11	102255596	missense	probably benign
IGL01760:BC030867	APN	11	102255596	missense	probably benign
IGL01761:BC030867	APN	11	102255596	missense	probably benign
IGL01762:BC030867	APN	11	102255596	missense	probably benign
IGL01764:BC030867	APN	11	102255596	missense	probably benign
IGL01769:BC030867	APN	11	102255596	missense	probably benign
IGL02156:BC030867	APN	11	102255039	missense	probably damaging	1.00
IGL02159:BC030867	APN	11	102260165	critical splice donor site	probably null
IGL02284:BC030867	APN	11	102255596	missense	probably benign
IGL02522:BC030867	APN	11	102257920	missense	possibly damaging	0.94
IGL02989:BC030867	APN	11	102255299	missense	probably benign	0.00
R2376:BC030867	UTSW	11	102250716	missense	probably benign	0.05
R2504:BC030867	UTSW	11	102255296	missense	possibly damaging	0.48
R3731:BC030867	UTSW	11	102257906	missense	possibly damaging	0.95
R5566:BC030867	UTSW	11	102255833	missense	probably damaging	0.99
R5774:BC030867	UTSW	11	102255669	missense	possibly damaging	0.82
R5864:BC030867	UTSW	11	102255146	missense	probably benign	0.00
R6013:BC030867	UTSW	11	102255033	missense	probably benign	0.00
R6250:BC030867	UTSW	11	102255062	missense	probably benign
R7264:BC030867	UTSW	11	102255596	missense	probably benign	0.00
R8013:BC030867	UTSW	11	102257899	missense	probably benign	0.02
R8014:BC030867	UTSW	11	102257899	missense	probably benign	0.02
R8266:BC030867	UTSW	11	102262220	missense	possibly damaging	0.94
R8770:BC030867	UTSW	11	102255150	missense	probably benign	0.00
X0062:BC030867	UTSW	11	102255755	missense	possibly damaging	0.89
X0065:BC030867	UTSW	11	102250727	missense	probably damaging	1.00

Posted On

2015-04-16