Incidental Mutation 'IGL01844:Hepacam'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hepacam
Ensembl Gene ENSMUSG00000046240
Gene Namehepatocyte cell adhesion molecule
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01844
Quality Score
Chromosomal Location37367351-37386575 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 37380616 bp
Amino Acid Change Valine to Glutamic Acid at position 80 (V80E)
Ref Sequence ENSEMBL: ENSMUSP00000054105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051839] [ENSMUST00000215951]
Predicted Effect probably damaging
Transcript: ENSMUST00000051839
AA Change: V80E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054105
Gene: ENSMUSG00000046240
AA Change: V80E

signal peptide 1 33 N/A INTRINSIC
IG 40 142 1e-3 SMART
IGc2 159 224 1.48e-6 SMART
transmembrane domain 241 263 N/A INTRINSIC
low complexity region 264 274 N/A INTRINSIC
low complexity region 337 356 N/A INTRINSIC
low complexity region 358 372 N/A INTRINSIC
low complexity region 379 396 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000215951
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a single-pass type I membrane protein that localizes to the cytoplasmic side of the cell membrane. The encoded protein acts as a homodimer and is involved in cell motility and cell-matrix interactions. The expression of this gene is downregulated or undetectable in many cancer cell lines, so this may be a tumor suppressor gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele display myelin vacuolization that progresses with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik A G 18: 40,257,320 I115M probably damaging Het
Abcg5 A G 17: 84,682,025 I85T probably damaging Het
Amer2 A G 14: 60,379,907 D391G possibly damaging Het
Atp13a3 A T 16: 30,361,963 C83S probably benign Het
Bdh2 A T 3: 135,288,319 Q54L probably benign Het
Cep128 A G 12: 91,008,854 S1051P probably benign Het
Dopey1 A G 9: 86,514,085 T865A probably damaging Het
Epha8 C A 4: 136,931,049 *1005L probably null Het
Etl4 T C 2: 20,806,682 V1509A probably benign Het
Gucy1b1 T C 3: 82,046,526 E161G possibly damaging Het
Ireb2 A G 9: 54,865,357 K24E probably benign Het
Itch T A 2: 155,172,547 D101E possibly damaging Het
Itch T A 2: 155,172,486 F81Y possibly damaging Het
Klf7 C A 1: 64,078,774 Q221H probably benign Het
Kptn A G 7: 16,123,972 T242A probably benign Het
Macf1 A G 4: 123,440,692 F4420S probably benign Het
Mthfd2 A G 6: 83,311,810 probably null Het
Mtrf1l A C 10: 5,814,112 L284V probably null Het
Neb C T 2: 52,170,549 V2259I probably benign Het
Olfr1216 A T 2: 89,013,470 V198E possibly damaging Het
Olfr1499 A T 19: 13,814,816 M258K possibly damaging Het
Padi1 A T 4: 140,829,435 C154S probably damaging Het
Paxip1 T C 5: 27,751,038 T903A probably benign Het
Phactr2 T A 10: 13,253,437 L292F probably benign Het
Pkhd1l1 G A 15: 44,499,400 probably benign Het
Pnpla7 T C 2: 25,050,973 probably null Het
Rif1 T A 2: 52,112,543 I2003K probably benign Het
Rxfp3 A T 15: 11,037,046 V80E probably damaging Het
Sart3 T A 5: 113,745,648 K768* probably null Het
Slc35f5 C T 1: 125,589,875 T470I probably damaging Het
Smg8 A T 11: 87,080,276 Y890N probably damaging Het
Spata31 T C 13: 64,921,154 V372A possibly damaging Het
Tbc1d30 A T 10: 121,267,179 D649E probably benign Het
Tctn3 G A 19: 40,612,137 T3I probably damaging Het
Tns3 G A 11: 8,437,177 P1337S possibly damaging Het
Vmn2r15 T A 5: 109,286,269 *856C probably null Het
Vmn2r61 A T 7: 42,260,215 I55F probably benign Het
Zbtb41 C T 1: 139,447,327 P842S probably benign Het
Zc3h13 A G 14: 75,343,769 probably benign Het
Other mutations in Hepacam
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0924:Hepacam UTSW 9 37383928 splice site probably benign
R1659:Hepacam UTSW 9 37380658 missense probably benign 0.08
R1748:Hepacam UTSW 9 37383893 missense possibly damaging 0.90
R4932:Hepacam UTSW 9 37381764 missense probably damaging 1.00
R5587:Hepacam UTSW 9 37384684 missense probably damaging 0.99
R5738:Hepacam UTSW 9 37383425 missense possibly damaging 0.83
R5809:Hepacam UTSW 9 37384805 missense possibly damaging 0.49
R6017:Hepacam UTSW 9 37380760 missense probably benign 0.00
R6825:Hepacam UTSW 9 37367680 missense possibly damaging 0.67
R7420:Hepacam UTSW 9 37380709 missense probably benign 0.00
R7825:Hepacam UTSW 9 37384768 missense probably benign 0.03
X0024:Hepacam UTSW 9 37381600 missense probably benign 0.26
Posted On2014-05-07