Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01321:Dpcr1'

74051

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dpcr1

Ensembl Gene

ENSMUSG00000073408

Gene Name

diffuse panbronchiolitis critical region 1 (human)

Synonyms

LOC268949

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

IGL01321

Quality Score

Status

Chromosome

Chromosomal Location

35635752-35643695 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35636866 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 490 (N490K)

Ref Sequence

ENSEMBL: ENSMUSP00000093120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095467] [ENSMUST00000174521]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095467
AA Change: N490K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093120
Gene: ENSMUSG00000073408
AA Change: N490K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
transmembrane domain	428	450	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174521

SMART Domains

Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

Domain	Start	End	E-Value	Type
Pfam:SFTA2	80	117	9.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174534

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,843	V76D	probably damaging	Het
Acnat2	A	G	4: 49,380,269	S370P	probably damaging	Het
Adamts5	T	C	16: 85,899,475	R265G	probably benign	Het
Cd2ap	T	C	17: 42,845,389	S86G	possibly damaging	Het
Cers3	A	C	7: 66,786,003		probably benign	Het
Dnaaf2	G	T	12: 69,196,602	P562T	probably damaging	Het
Dnajc21	A	C	15: 10,447,102	V520G	probably benign	Het
Dync1h1	A	G	12: 110,625,607		probably benign	Het
Extl3	T	C	14: 65,066,762	N733D	probably benign	Het
Gm5499	T	A	17: 87,078,500		noncoding transcript	Het
Gstm6	T	C	3: 107,941,063	Q180R	probably benign	Het
Hdlbp	G	A	1: 93,423,802	R460W	probably damaging	Het
Ift81	T	C	5: 122,610,968	D40G	probably damaging	Het
Igsf3	T	A	3: 101,427,022		probably benign	Het
Kcnb2	A	G	1: 15,312,923	T158A	probably benign	Het
Lrrc59	C	T	11: 94,638,600	R167*	probably null	Het
Macf1	A	G	4: 123,440,774	C4397R	probably damaging	Het
Morc1	T	C	16: 48,582,462	S583P	probably benign	Het
Nipsnap2	T	A	5: 129,757,141	*282R	probably null	Het
Olfr1160	A	T	2: 88,006,245	C178S	probably damaging	Het
Olfr703	T	C	7: 106,844,749	L46P	probably damaging	Het
Parp14	T	A	16: 35,856,559	Q1013L	probably benign	Het
Pdzd8	A	C	19: 59,301,529	S480A	probably benign	Het
Piezo1	A	T	8: 122,487,600	S1609R	probably damaging	Het
Pkp4	G	A	2: 59,350,627		probably null	Het
Plpp2	A	T	10: 79,527,493	V106D	probably damaging	Het
Rimbp2	T	C	5: 128,786,752	Y724C	probably benign	Het
Rpgrip1l	A	T	8: 91,260,873	L852*	probably null	Het
Samd9l	T	A	6: 3,376,259	D334V	probably benign	Het
Sipa1l2	G	A	8: 125,491,518	T360M	probably damaging	Het
Slc30a2	A	T	4: 134,343,300	D5V	probably damaging	Het
Spata31	T	C	13: 64,921,754	I572T	probably benign	Het
Tma16	G	A	8: 66,476,860	L161F	probably benign	Het
Trim69	A	T	2: 122,173,284	E238V	possibly damaging	Het
Zfhx4	A	G	3: 5,242,328	T205A	probably benign	Het

Other mutations in Dpcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Dpcr1	APN	17	35638102	missense	possibly damaging	0.46
IGL01805:Dpcr1	APN	17	35637643	missense	possibly damaging	0.62
IGL02320:Dpcr1	APN	17	35637440	missense	probably benign	0.00
R1869:Dpcr1	UTSW	17	35638413	missense	possibly damaging	0.82
R4570:Dpcr1	UTSW	17	35637991	missense	possibly damaging	0.66
R4858:Dpcr1	UTSW	17	35637576	missense	possibly damaging	0.74
R5592:Dpcr1	UTSW	17	35643643	missense	probably damaging	0.99
R5733:Dpcr1	UTSW	17	35638210	missense	probably benign	0.00
R7422:Dpcr1	UTSW	17	35638420	missense	probably benign	0.00
R7689:Dpcr1	UTSW	17	35638077	missense	possibly damaging	0.83
R7780:Dpcr1	UTSW	17	35636982	missense	possibly damaging	0.95
R8079:Dpcr1	UTSW	17	35638192	missense	unknown
R8320:Dpcr1	UTSW	17	35643638	missense	probably benign	0.22
R8337:Dpcr1	UTSW	17	35637594	missense	possibly damaging	0.95

Posted On

2013-10-07