Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02712:BC003331'

304627

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC003331

Ensembl Gene

ENSMUSG00000006010

Gene Name

cDNA sequence BC003331

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.657) question?

Stock #

IGL02712

Quality Score

Status

Chromosome

Chromosomal Location

150361305-150393080 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 150386356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107544 (fasta)

Gene Model

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

AlphaFold

Q4PJX1

Predicted Effect

probably null
Transcript: ENSMUST00000006167

SMART Domains

Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010

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 null
Transcript: ENSMUST00000097546

SMART Domains

Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010

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 null
Transcript: ENSMUST00000097547

SMART Domains

Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010

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

probably null
Transcript: ENSMUST00000111913

SMART Domains

Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150615

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angel1	A	G	12: 86,722,839		probably benign	Het
Arhgef33	T	A	17: 80,360,373	V289D	probably damaging	Het
Cabp5	A	G	7: 13,403,346	M93V	probably damaging	Het
Ces1a	A	C	8: 93,036,040	V201G	probably damaging	Het
Cisd1	A	G	10: 71,336,351	F34L	probably benign	Het
Cyp26a1	T	C	19: 37,699,978	L316P	probably damaging	Het
Ddx39	A	G	8: 83,721,757	I213V	probably benign	Het
Ddx59	A	T	1: 136,439,781	N542I	probably benign	Het
Dytn	T	C	1: 63,664,422	T233A	probably benign	Het
Fbxo7	A	G	10: 86,024,438	T49A	possibly damaging	Het
Fmnl2	C	A	2: 53,036,498		probably benign	Het
Golga2	G	T	2: 32,304,213	K610N	probably damaging	Het
Hipk4	T	C	7: 27,528,635	Y269H	probably damaging	Het
Ifi209	T	C	1: 173,642,701	V285A	possibly damaging	Het
Ifna1	A	G	4: 88,850,286	D67G	probably benign	Het
Map3k13	T	G	16: 21,905,255	V329G	probably damaging	Het
Mrm3	T	C	11: 76,243,857	W29R	possibly damaging	Het
Nos1ap	T	C	1: 170,329,251	I213V	possibly damaging	Het
Nphp4	C	T	4: 152,556,275	T1033M	probably damaging	Het
Nr5a2	T	C	1: 136,940,528		probably null	Het
Nrcam	A	G	12: 44,573,827	Y885C	probably damaging	Het
Olfr23	T	C	11: 73,940,930	V228A	probably benign	Het
Olfr983	T	C	9: 40,092,786	H60R	probably damaging	Het
Ovgp1	T	A	3: 105,986,513		probably benign	Het
Pdzd2	T	C	15: 12,376,027	S1341G	probably benign	Het
Pld2	T	G	11: 70,557,079	L856R	probably benign	Het
Plod1	A	G	4: 147,918,887	F494L	possibly damaging	Het
Pnkd	T	A	1: 74,349,868	S233T	possibly damaging	Het
Rnf144b	T	C	13: 47,239,779	I198T	probably damaging	Het
Rsc1a1	G	T	4: 141,685,065	Q179K	probably benign	Het
Slc5a10	C	T	11: 61,707,806	W249*	probably null	Het
Slc9a3r1	T	C	11: 115,177,234	V200A	possibly damaging	Het
Spata32	T	G	11: 103,208,147		probably benign	Het
Stk4	T	A	2: 164,096,897	H228Q	probably damaging	Het
Szt2	T	A	4: 118,384,833	Q1592L	probably benign	Het
Tnc	T	A	4: 63,975,256	I1598F	probably damaging	Het
Togaram2	A	T	17: 71,704,754	D476V	probably benign	Het
Ttll6	T	G	11: 96,139,775		probably benign	Het
Vmn2r118	A	G	17: 55,592,655	S750P	probably benign	Het
Zswim5	C	T	4: 116,985,695	T879I	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
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
IGL03344:BC003331	APN	1	150363544	missense	probably damaging	0.99
R1170:BC003331	UTSW	1	150386391	missense	probably benign	0.00
R1796:BC003331	UTSW	1	150375554	missense	probably benign
R1902:BC003331	UTSW	1	150388609	splice site	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
R7916:BC003331	UTSW	1	150384498	missense	probably benign	0.01
R8114:BC003331	UTSW	1	150388557	nonsense	probably null
R8120:BC003331	UTSW	1	150384426	splice site	probably null
R8435:BC003331	UTSW	1	150382269	missense	possibly damaging	0.90
R9397:BC003331	UTSW	1	150362865	missense	probably damaging	1.00

Posted On

2015-04-16