Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02451:BC017158'

293654

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC017158

Ensembl Gene

ENSMUSG00000030780

Gene Name

cDNA sequence BC017158

Synonyms

MGC:28903

Accession Numbers

Genbank: NM_145590; MGI: 2384572

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02451

Quality Score

Status

Chromosome

Chromosomal Location

128271379-128298170 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128276410 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 257 (L257P)

Ref Sequence

ENSEMBL: ENSMUSP00000033044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033044] [ENSMUST00000118169] [ENSMUST00000126263] [ENSMUST00000205720]

Predicted Effect

probably damaging
Transcript: ENSMUST00000033044
AA Change: L257P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033044
Gene: ENSMUSG00000030780
AA Change: L257P

Domain	Start	End	E-Value	Type
Pfam:DUF647	62	301	5.6e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118169

SMART Domains

Protein: ENSMUSP00000112597
Gene: ENSMUSG00000030781

Domain	Start	End	E-Value	Type
Pfam:SSF	53	490	7e-170	PFAM
transmembrane domain	524	546	N/A	INTRINSIC
low complexity region	566	577	N/A	INTRINSIC
low complexity region	615	635	N/A	INTRINSIC
transmembrane domain	650	669	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124216

Predicted Effect

probably damaging
Transcript: ENSMUST00000126263
AA Change: L257P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000114673
Gene: ENSMUSG00000030780
AA Change: L257P

Domain	Start	End	E-Value	Type
Pfam:DUF647	61	304	3e-102	PFAM
low complexity region	334	347	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139452

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147091

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154003

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155177

Predicted Effect

probably benign
Transcript: ENSMUST00000205720

Predicted Effect

probably benign
Transcript: ENSMUST00000206703

Predicted Effect

probably benign
Transcript: ENSMUST00000206716

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative transmembrane protein containing a conserved DUF647 domain that may be involved in protein-protein interaction. The encoded protein is related to a plant protein that participates in ultraviolet B light-sensing during root morphogenesis. [provided by RefSeq, Feb 2013]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	G	5: 138,563,547	T126P	probably damaging	Het
Asic2	T	C	11: 80,891,737		probably benign	Het
B430305J03Rik	A	G	3: 61,364,141		probably benign	Het
Bbs7	A	G	3: 36,610,592	F47L	possibly damaging	Het
Bcl2l14	G	T	6: 134,423,841	G75V	probably benign	Het
Btnl4	T	C	17: 34,475,927	H4R	probably benign	Het
Champ1	C	A	8: 13,878,739	P299Q	probably damaging	Het
Cldnd2	A	G	7: 43,441,658	K5E	probably benign	Het
Ctr9	T	A	7: 111,043,424	L401*	probably null	Het
Cyp2c29	G	A	19: 39,290,847	G96D	possibly damaging	Het
Enpp4	A	T	17: 44,101,424	L298H	probably damaging	Het
Git1	T	C	11: 77,500,687	C222R	possibly damaging	Het
Gpam	T	C	19: 55,088,203	T189A	probably damaging	Het
Hgfac	T	G	5: 35,043,814		probably null	Het
Hivep3	T	A	4: 120,133,965	S2221T	probably damaging	Het
Ifi47	T	C	11: 49,095,777	Y124H	probably damaging	Het
Il1a	T	C	2: 129,306,655	E45G	probably damaging	Het
Itga11	T	A	9: 62,735,353	I186N	probably damaging	Het
Krt16	A	T	11: 100,246,336		probably benign	Het
Mapk13	A	G	17: 28,776,413	T203A	probably damaging	Het
Mrpl37	T	A	4: 107,066,642	I52F	probably damaging	Het
Nr1i2	A	G	16: 38,249,292	F417L	probably benign	Het
Olfr1129	T	A	2: 87,575,232	S49R	probably benign	Het
Olfr811	G	A	10: 129,801,833	Q231*	probably null	Het
Osbpl1a	T	C	18: 12,914,493		probably benign	Het
Parg	C	T	14: 32,242,229	T112M	probably damaging	Het
Pifo	T	A	3: 106,014,504	E34D	probably benign	Het
Pou6f1	T	C	15: 100,579,940	T166A	possibly damaging	Het
Prtg	A	G	9: 72,856,999	I585V	possibly damaging	Het
Ptpru	T	G	4: 131,776,775		probably benign	Het
Rab6a	T	C	7: 100,636,763		probably null	Het
Rnf207	C	T	4: 152,312,412	R425H	probably benign	Het
Skiv2l2	C	T	13: 112,891,347	V660M	probably damaging	Het
Slc27a2	A	G	2: 126,578,992	M468V	probably benign	Het
Slc30a1	A	G	1: 191,907,329	H108R	possibly damaging	Het
Sned1	A	G	1: 93,236,208		probably benign	Het
Sptbn4	A	T	7: 27,365,589	F2095Y	probably null	Het
Sspo	A	T	6: 48,460,303		probably benign	Het
Tbx19	A	G	1: 165,140,171	S336P	probably benign	Het
Tmem101	T	A	11: 102,153,293	D256V	probably damaging	Het
Trbv20	T	G	6: 41,188,276	L2V	unknown	Het
Trpc7	A	G	13: 56,822,461	S382P	probably damaging	Het
Uhmk1	T	C	1: 170,212,526	T91A	possibly damaging	Het
Vmn2r10	T	A	5: 108,995,922	R721*	probably null	Het
Vmn2r94	T	A	17: 18,258,191	Y98F	possibly damaging	Het
Zcchc11	C	A	4: 108,529,276	Y1114*	probably null	Het
Zfp532	A	G	18: 65,623,601	R202G	probably damaging	Het
Zfp827	T	C	8: 79,060,972	S256P	probably damaging	Het
Zzef1	T	C	11: 72,901,388	I2266T	probably damaging	Het

Other mutations in BC017158

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02527:BC017158	APN	7	128276231	missense	possibly damaging	0.92
IGL02572:BC017158	APN	7	128290580	splice site	probably benign
3-1:BC017158	UTSW	7	128276129	missense	possibly damaging	0.87
PIT4445001:BC017158	UTSW	7	128276534	missense	probably benign	0.15
R0364:BC017158	UTSW	7	128290614	missense	probably damaging	1.00
R0590:BC017158	UTSW	7	128297470	missense	probably damaging	1.00
R0616:BC017158	UTSW	7	128272631	splice site	probably null
R2060:BC017158	UTSW	7	128288331	missense	probably damaging	1.00
R3849:BC017158	UTSW	7	128285208	missense	probably damaging	1.00
R4487:BC017158	UTSW	7	128288358	missense	probably damaging	1.00
R4510:BC017158	UTSW	7	128276140	missense	probably damaging	0.99
R4511:BC017158	UTSW	7	128276140	missense	probably damaging	0.99
R4708:BC017158	UTSW	7	128274680	missense	probably benign	0.00
R4793:BC017158	UTSW	7	128288202	intron	probably benign
R4983:BC017158	UTSW	7	128276473	unclassified	probably benign
R5502:BC017158	UTSW	7	128285136	missense	probably damaging	1.00
R6181:BC017158	UTSW	7	128297460	critical splice donor site	probably null
R6312:BC017158	UTSW	7	128273543	missense	probably benign	0.02
R7898:BC017158	UTSW	7	128298005	missense	probably benign	0.08
R8322:BC017158	UTSW	7	128290614	missense	probably damaging	1.00

Posted On

2015-04-16