Incidental Mutation 'IGL01531:Gpnmb'
ID89776
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpnmb
Ensembl Gene ENSMUSG00000029816
Gene Nameglycoprotein (transmembrane) nmb
SynonymsOsteoactivin, Dchil
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01531
Quality Score
Status
Chromosome6
Chromosomal Location49036546-49070929 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 49047458 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031840] [ENSMUST00000203757] [ENSMUST00000204260]
Predicted Effect probably benign
Transcript: ENSMUST00000031840
SMART Domains Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
PKD 250 386 4.96e-9 SMART
transmembrane domain 500 522 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203757
Predicted Effect probably benign
Transcript: ENSMUST00000204260
SMART Domains Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 155 165 N/A INTRINSIC
PKD 250 386 4.96e-9 SMART
transmembrane domain 503 525 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204460
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 type I transmembrane glycoprotein which shows homology to the pMEL17 precursor, a melanocyte-specific protein. GPNMB shows expression in the lowly metastatic human melanoma cell lines and xenografts but does not show expression in the highly metastatic cell lines. GPNMB may be involved in growth delay and reduction of metastatic potential. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit dispersed pigmentation of the iris, deterioration of the posterior iris epithelium and slit-like transillumination defects. The mutation contributes to glaucoma, especially in combination with the brown coat color mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dnaja3 T G 16: 4,694,404 V224G probably damaging Het
Dntt A T 19: 41,053,238 R454* probably null Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il33 C A 19: 29,951,981 Q35K possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Impact C T 18: 12,976,019 S69F probably benign Het
Klk9 G A 7: 43,792,251 G39D probably damaging Het
Ldah A G 12: 8,227,337 D91G probably benign Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Gpnmb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01064:Gpnmb APN 6 49055659 missense probably benign 0.01
IGL01291:Gpnmb APN 6 49055681 missense probably benign 0.12
IGL01307:Gpnmb APN 6 49045365 missense probably benign 0.03
IGL01398:Gpnmb APN 6 49050431 missense probably benign 0.02
IGL01936:Gpnmb APN 6 49047450 missense probably null 1.00
ANU05:Gpnmb UTSW 6 49055681 missense probably benign 0.12
R0242:Gpnmb UTSW 6 49047342 missense probably damaging 0.99
R0242:Gpnmb UTSW 6 49047342 missense probably damaging 0.99
R0413:Gpnmb UTSW 6 49042803 missense probably benign
R0690:Gpnmb UTSW 6 49048015 missense probably benign 0.24
R0884:Gpnmb UTSW 6 49047913 missense possibly damaging 0.65
R1659:Gpnmb UTSW 6 49047852 missense probably damaging 1.00
R3703:Gpnmb UTSW 6 49051865 missense possibly damaging 0.95
R3705:Gpnmb UTSW 6 49051865 missense possibly damaging 0.95
R4629:Gpnmb UTSW 6 49051060 missense possibly damaging 0.82
R4782:Gpnmb UTSW 6 49045483 splice site probably null
R4799:Gpnmb UTSW 6 49045483 splice site probably null
R4916:Gpnmb UTSW 6 49051970 missense probably damaging 1.00
R5223:Gpnmb UTSW 6 49056205 missense probably benign 0.01
R5390:Gpnmb UTSW 6 49047841 missense probably damaging 1.00
R5512:Gpnmb UTSW 6 49045464 missense possibly damaging 0.62
R5833:Gpnmb UTSW 6 49044018 missense probably damaging 1.00
R6103:Gpnmb UTSW 6 49042886 missense possibly damaging 0.86
R7211:Gpnmb UTSW 6 49052015 missense possibly damaging 0.82
R7900:Gpnmb UTSW 6 49050466 missense possibly damaging 0.83
Z1176:Gpnmb UTSW 6 49051832 missense possibly damaging 0.85
Posted On2013-12-03