Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03344:BC003331'

417372

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC003331

Ensembl Gene

ENSMUSG00000006010

Gene Name

cDNA sequence BC003331

Synonyms

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

IGL03344

Quality Score

Status

Chromosome

Chromosomal Location

150361305-150393080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150363544 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 386 (E386G)

Ref Sequence

ENSEMBL: ENSMUSP00000095152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913]

Predicted Effect

probably damaging
Transcript: ENSMUST00000006167
AA Change: E386G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: E386G

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094477

SMART Domains

Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	383	2.8e-120	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000097546
AA Change: E386G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: E386G

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097547
AA Change: E376G

PolyPhen 2 Score 0.884 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: E376G

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	209	1.2e-57	PFAM
Pfam:ODR4-like	206	354	3.1e-43	PFAM
transmembrane domain	392	414	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111913
AA Change: E408G

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: E408G

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	386	7.1e-113	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	A	T	8: 79,248,376	I26N	probably damaging	Het
2410089E03Rik	C	A	15: 8,187,458	P720Q	possibly damaging	Het
AI314180	A	C	4: 58,828,538	V965G	probably damaging	Het
Armc4	C	A	18: 7,129,434	G915*	probably null	Het
Atxn7l1	A	G	12: 33,326,066	N47D	probably damaging	Het
Cer1	A	T	4: 82,884,825	W87R	probably damaging	Het
Chrna2	A	G	14: 66,150,966	K477E	probably damaging	Het
Chtf8	G	A	8: 106,886,272	P12S	probably damaging	Het
Deaf1	A	T	7: 141,297,548	H555Q	probably benign	Het
Dopey1	T	G	9: 86,536,144	I1975M	probably damaging	Het
Fsd2	C	A	7: 81,559,909	V62L	probably benign	Het
Fxyd6	T	G	9: 45,392,250	L81R	probably benign	Het
Htt	T	A	5: 34,879,828	S2086T	probably benign	Het
Htt	T	A	5: 34,907,466	S3008T	probably benign	Het
Mybbp1a	G	T	11: 72,445,202	R447L	probably damaging	Het
Nup210	A	G	6: 91,021,429	V792A	possibly damaging	Het
Olfr342	T	C	2: 36,528,128	S239P	probably damaging	Het
Olfr392	T	A	11: 73,814,177	I302L	probably benign	Het
Prokr1	T	C	6: 87,588,500	D121G	possibly damaging	Het
Puf60	A	G	15: 76,070,380	V548A	possibly damaging	Het
Serpina3c	T	C	12: 104,147,264	I408V	probably benign	Het
Ska2	A	G	11: 87,109,313		probably benign	Het
Slc4a9	T	A	18: 36,535,601	Y745N	probably damaging	Het
Speer4f1	A	G	5: 17,480,334	E209G	possibly damaging	Het
Spg20	T	C	3: 55,121,685	M299T	probably benign	Het
Tmem202	T	C	9: 59,519,068	T272A	possibly damaging	Het
Vegfc	T	A	8: 54,157,151	I114N	possibly damaging	Het
Vmn1r61	T	A	7: 5,610,494	T274S	possibly damaging	Het
Zfpm2	A	G	15: 41,102,774	N753S	probably benign	Het
Zmym6	A	G	4: 127,120,521	T624A	probably damaging	Het

Other mutations in BC003331

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:BC003331	APN	1	150382338	missense	probably benign	0.10
IGL02189:BC003331	APN	1	150372033	missense	possibly damaging	0.94
IGL02257:BC003331	APN	1	150386404	missense	probably damaging	0.99
IGL02485:BC003331	APN	1	150363489	critical splice donor site	probably null
IGL02585:BC003331	APN	1	150363521	missense	probably damaging	0.96
IGL02712:BC003331	APN	1	150386356	critical splice donor site	probably null
IGL02902:BC003331	APN	1	150384428	critical splice donor site	probably null
IGL03014:BC003331	APN	1	150383053	splice site	probably benign
IGL03124:BC003331	APN	1	150386425	missense	probably benign	0.00
IGL03181:BC003331	APN	1	150363539	missense	probably benign	0.06
R1170:BC003331	UTSW	1	150386391	missense	probably benign	0.00
R1796:BC003331	UTSW	1	150375554	missense	probably benign
R1902:BC003331	UTSW	1	150388609	unclassified	probably null
R2149:BC003331	UTSW	1	150388559	missense	probably benign	0.05
R2155:BC003331	UTSW	1	150382335	missense	possibly damaging	0.68
R2375:BC003331	UTSW	1	150390234	critical splice donor site	probably null
R3786:BC003331	UTSW	1	150384531	missense	probably benign	0.21
R3948:BC003331	UTSW	1	150388557	nonsense	probably null
R4589:BC003331	UTSW	1	150384487	missense	probably benign	0.11
R4590:BC003331	UTSW	1	150386352	splice site	probably null
R4815:BC003331	UTSW	1	150374846	missense	probably damaging	0.99
R5196:BC003331	UTSW	1	150382389	missense	probably damaging	1.00
R5437:BC003331	UTSW	1	150363518	missense	probably benign	0.01
R5549:BC003331	UTSW	1	150372158	missense	possibly damaging	0.86
R5677:BC003331	UTSW	1	150374837	missense	probably damaging	1.00
R5896:BC003331	UTSW	1	150380360	missense	probably benign	0.10
R6472:BC003331	UTSW	1	150381522	missense	probably benign	0.15
R7108:BC003331	UTSW	1	150382290	missense	probably benign	0.01
R7402:BC003331	UTSW	1	150386356	critical splice donor site	probably null
R7662:BC003331	UTSW	1	150382294	missense	probably benign
R7767:BC003331	UTSW	1	150372037	missense	probably benign	0.00
R7810:BC003331	UTSW	1	150392908	utr 5 prime	probably benign

Posted On

2016-08-02