Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02156:BC030867'

282216

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: 0.411) question?

Stock #

IGL02156

Quality Score

Status

Chromosome

Chromosomal Location

102248882-102265187 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102255039 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 47 (S47F)

Ref Sequence

ENSEMBL: ENSMUSP00000137686 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000100392
AA Change: S47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097961
Gene: ENSMUSG00000034773
AA Change: S47F

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 damaging
Transcript: ENSMUST00000133930
AA Change: S47F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137686
Gene: ENSMUSG00000034773
AA Change: S47F

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930408O17Rik	G	A	12: 104,871,307		noncoding transcript	Het
Adam33	G	A	2: 131,053,158		probably benign	Het
Akr7a5	C	A	4: 139,314,269	A163D	probably damaging	Het
Arap1	T	C	7: 101,388,730		probably benign	Het
Arhgap8	A	G	15: 84,770,035	I306V	possibly damaging	Het
Asf1a	C	T	10: 53,606,143	A17V	probably benign	Het
Atp1a4	A	T	1: 172,257,962	S25T	probably benign	Het
Cbln4	T	C	2: 172,042,208	I31V	probably benign	Het
Ccdc93	T	G	1: 121,448,276	L172R	possibly damaging	Het
Ceacam9	T	C	7: 16,723,619		probably benign	Het
Crhr1	C	A	11: 104,163,883	N107K	probably benign	Het
Cyp11b1	T	A	15: 74,835,797	M488L	probably benign	Het
Dnah7a	A	G	1: 53,419,723	V3752A	probably benign	Het
Dnhd1	G	A	7: 105,721,744	V4744M	probably damaging	Het
Dstyk	C	A	1: 132,449,926	N423K	probably benign	Het
Exph5	T	C	9: 53,375,641	S1341P	probably damaging	Het
Fam161b	T	C	12: 84,354,753	H409R	probably benign	Het
Fbxo21	A	G	5: 117,994,668		probably benign	Het
Flt1	A	G	5: 147,681,741	I230T	probably damaging	Het
Gm9931	T	C	1: 147,281,628		noncoding transcript	Het
Grk6	T	C	13: 55,449,361	F36L	possibly damaging	Het
Grm1	G	T	10: 10,719,976	A636D	probably damaging	Het
Hectd1	A	T	12: 51,754,133		probably benign	Het
Hltf	G	A	3: 20,092,807	V577I	possibly damaging	Het
Lrrc8c	A	G	5: 105,607,493	D378G	probably damaging	Het
Mcoln1	C	A	8: 3,512,657	S6*	probably null	Het
Meis1	A	T	11: 19,011,292	S194T	probably benign	Het
Myo1h	A	C	5: 114,353,911		probably benign	Het
Nop9	T	A	14: 55,753,283	C557*	probably null	Het
Nrap	T	C	19: 56,321,000	D1619G	probably damaging	Het
Olfr1314	A	T	2: 112,092,016	H228Q	probably benign	Het
Olfr854	A	G	9: 19,567,198	M59T	probably damaging	Het
Olfr934	T	A	9: 38,982,546	Y166F	possibly damaging	Het
Pard3b	T	A	1: 61,767,950	D41E	possibly damaging	Het
Parp14	G	T	16: 35,858,597	Q334K	probably benign	Het
Phf3	A	T	1: 30,808,778	I1228K	probably damaging	Het
Polr1b	T	A	2: 129,123,879	F814I	probably benign	Het
Rsph1	T	G	17: 31,258,116	S282R	probably benign	Het
Son	T	C	16: 91,656,104	S580P	possibly damaging	Het
Sptbn5	G	T	2: 120,047,617		probably benign	Het
Ssr2	T	A	3: 88,583,788		probably null	Het
Tfpt	A	G	7: 3,629,040	S24P	probably damaging	Het
Tg	A	G	15: 66,705,348	T1507A	probably benign	Het
Trpm7	A	G	2: 126,799,243		probably benign	Het
Wwox	G	A	8: 114,448,159		probably null	Het
Ythdf2	C	T	4: 132,204,508	R447H	possibly damaging	Het
Zfp385c	A	G	11: 100,629,019	F368S	probably damaging	Het
Zfp488	A	G	14: 33,970,400	S269P	possibly damaging	Het
Zhx1	A	C	15: 58,054,049	V267G	possibly damaging	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
IGL01778:BC030867	APN	11	102255596	missense	probably benign
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
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