Incidental Mutation 'IGL01643:Popdc3'
ID93600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Popdc3
Ensembl Gene ENSMUSG00000019848
Gene Namepopeye domain containing 3
SynonymsPop3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL01643
Quality Score
Status
Chromosome10
Chromosomal Location45178098-45318452 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 45314880 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 29 (I29N)
Ref Sequence ENSEMBL: ENSMUSP00000135373 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019994] [ENSMUST00000161803] [ENSMUST00000175658]
Predicted Effect probably damaging
Transcript: ENSMUST00000019994
AA Change: I29N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: I29N

DomainStartEndE-ValueType
Pfam:Popeye 25 249 1.8e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161803
AA Change: I29N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848
AA Change: I29N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000175658
AA Change: I29N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000135373
Gene: ENSMUSG00000019848
AA Change: I29N

DomainStartEndE-ValueType
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,191,588 R304Q probably damaging Het
Afap1l1 T A 18: 61,751,826 E196V probably damaging Het
Bmp5 A T 9: 75,839,613 D251V probably damaging Het
Ccdc155 A T 7: 45,200,286 M71K probably damaging Het
Ccser1 A G 6: 61,311,855 H334R probably benign Het
Crnkl1 A G 2: 145,931,348 M126T probably damaging Het
Ddrgk1 T C 2: 130,658,294 probably benign Het
Dpy19l4 T C 4: 11,290,184 probably benign Het
Eral1 A G 11: 78,074,278 probably null Het
Ereg T A 5: 91,086,778 S17T probably benign Het
Fgfr1 T A 8: 25,566,735 M280K probably benign Het
Gpr65 A G 12: 98,275,754 E222G probably damaging Het
Grid1 G T 14: 35,323,435 probably null Het
Hspa12b A G 2: 131,142,697 T329A probably damaging Het
Inpp4b A G 8: 82,071,771 I863V probably damaging Het
Krt8 G T 15: 101,997,073 S447Y possibly damaging Het
Lama2 T A 10: 27,070,372 probably benign Het
Lama4 A C 10: 39,056,850 N574T probably benign Het
Lig3 T C 11: 82,798,292 S791P probably damaging Het
Oas2 A T 5: 120,736,187 probably benign Het
Olfr1255 A T 2: 89,816,673 I116F probably damaging Het
Pdk1 A G 2: 71,897,705 D370G probably damaging Het
Rbp3 A T 14: 33,956,836 I914F probably benign Het
Rnf207 C T 4: 152,318,261 probably benign Het
Ryr2 T A 13: 11,692,677 I2825F possibly damaging Het
Slc37a2 A T 9: 37,235,553 probably benign Het
Vps8 T C 16: 21,518,222 V791A possibly damaging Het
Wdr64 T C 1: 175,772,311 L127P probably damaging Het
Whrn T C 4: 63,416,435 T368A possibly damaging Het
Other mutations in Popdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Popdc3 APN 10 45317826 unclassified probably null
IGL01304:Popdc3 APN 10 45317909 missense probably benign
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
X0057:Popdc3 UTSW 10 45315111 missense probably benign 0.10
Posted On2013-12-09