Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00391:Popdc3'

4731

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Popdc3

Ensembl Gene

ENSMUSG00000019848

Gene Name

popeye domain containing 3

Synonyms

Pop3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00391

Quality Score

Status

Chromosome

Chromosomal Location

45178098-45318452 bp(+) (GRCm38)

Type of Mutation

splice site (2712 bp from exon)

DNA Base Change (assembly)

A to G at 45317826 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135373 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019994] [ENSMUST00000161803] [ENSMUST00000175658]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019994
AA Change: D241G

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: D241G

Domain	Start	End	E-Value	Type
Pfam:Popeye	25	249	1.8e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161803

SMART Domains

Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848

Domain	Start	End	E-Value	Type
transmembrane domain	27	44	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
Pfam:Popeye	107	169	5.9e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000175658

SMART Domains

Protein: ENSMUSP00000135373
Gene: ENSMUSG00000019848

Domain	Start	End	E-Value	Type
transmembrane domain	27	44	N/A	INTRINSIC
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC

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 member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	G	A	5: 81,724,224	V990M	probably damaging	Het
Ap4b1	A	G	3: 103,821,542	T499A	probably benign	Het
Cacna2d4	T	C	6: 119,337,933		probably benign	Het
Ccr5	T	A	9: 124,124,406	D15E	possibly damaging	Het
Clca4b	A	G	3: 144,915,561	V584A	possibly damaging	Het
Cmtr1	T	C	17: 29,674,262	M85T	probably damaging	Het
Col6a3	T	A	1: 90,828,255	H104L	probably damaging	Het
Coq9	A	T	8: 94,850,517	K170M	probably damaging	Het
Elmod1	A	G	9: 53,924,398		probably null	Het
Fam47e	A	C	5: 92,579,663	E143D	probably damaging	Het
Faxc	A	G	4: 21,948,725	K146E	probably damaging	Het
Gm5346	A	T	8: 43,625,629	F519L	probably damaging	Het
Hrasls5	A	T	19: 7,619,266		probably benign	Het
Myo7b	A	C	18: 32,021,556		probably benign	Het
Nmur1	G	A	1: 86,386,471	R381C	probably damaging	Het
Nsd2	T	G	5: 33,855,733	D469E	probably damaging	Het
Osbpl6	G	A	2: 76,590,439	C786Y	probably damaging	Het
Osgin2	T	C	4: 16,006,439	Y85C	probably damaging	Het
Otof	A	G	5: 30,375,623	C1587R	probably damaging	Het
Plekha2	A	G	8: 25,057,327	V247A	probably damaging	Het
Plppr5	A	T	3: 117,671,943	N281I	possibly damaging	Het
Ppp1r12a	A	G	10: 108,198,848	N85D	probably damaging	Het
Serpinb8	A	G	1: 107,606,984	S262G	probably benign	Het
Sspo	G	A	6: 48,497,386	G4780R	probably damaging	Het
Ush2a	A	G	1: 188,916,061	E4621G	probably damaging	Het

Other mutations in Popdc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:Popdc3	APN	10	45317909	missense	probably benign
IGL01643:Popdc3	APN	10	45314880	missense	probably damaging	1.00
IGL02755:Popdc3	APN	10	45315218	missense	probably damaging	1.00
R0410:Popdc3	UTSW	10	45317733	missense	possibly damaging	0.95
R0586:Popdc3	UTSW	10	45315263	missense	probably benign	0.04
R0738:Popdc3	UTSW	10	45315258	missense	probably damaging	1.00
R1102:Popdc3	UTSW	10	45316546	unclassified	probably benign
R1649:Popdc3	UTSW	10	45315224	missense	probably damaging	1.00
R2026:Popdc3	UTSW	10	45314855	missense	probably damaging	1.00
R4720:Popdc3	UTSW	10	45314906	missense	probably benign	0.04
R5669:Popdc3	UTSW	10	45316433	missense	probably damaging	1.00
R5905:Popdc3	UTSW	10	45317919	missense	probably benign
R6028:Popdc3	UTSW	10	45317919	missense	probably benign
R7468:Popdc3	UTSW	10	45315021	missense	probably damaging	1.00
R7693:Popdc3	UTSW	10	45315131	missense	probably benign	0.01
R7864:Popdc3	UTSW	10	45315182	missense	probably benign	0.13
X0057:Popdc3	UTSW	10	45315111	missense	probably benign	0.10
Z1177:Popdc3	UTSW	10	45314884	nonsense	probably null

Posted On

2012-04-20