Incidental Mutation 'IGL01307:Gpnmb'
| ID |
73497 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpnmb
|
| Ensembl Gene |
ENSMUSG00000029816 |
| Gene Name |
glycoprotein (transmembrane) nmb |
| Synonyms |
Osteoactivin, DC-HIL, Dchil |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
49013449-49044413 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 49022299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 143
(D143G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031840]
[ENSMUST00000203757]
[ENSMUST00000204260]
|
| AlphaFold |
Q99P91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031840
AA Change: D143G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000031840
Gene: ENSMUSG00000029816
AA Change: D143G
| Domain | Start | End | E-Value | Type |
|---|
|
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
AA Change: D143G
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000145376
Gene: ENSMUSG00000029816
AA Change: D143G
| Domain | Start | End | E-Value | Type |
|---|
|
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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,159 (GRCm39) |
M2302K |
possibly damaging |
Het |
| Actl9 |
A |
G |
17: 33,653,152 (GRCm39) |
E404G |
probably damaging |
Het |
| Adamts12 |
A |
T |
15: 11,237,632 (GRCm39) |
I314L |
possibly damaging |
Het |
| Card6 |
C |
A |
15: 5,129,484 (GRCm39) |
M637I |
possibly damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,516 (GRCm39) |
|
probably benign |
Het |
| Cdh10 |
A |
G |
15: 18,899,886 (GRCm39) |
D71G |
probably benign |
Het |
| Cdk15 |
A |
T |
1: 59,326,955 (GRCm39) |
Y214F |
probably benign |
Het |
| Cdon |
A |
G |
9: 35,368,860 (GRCm39) |
K365E |
probably benign |
Het |
| Cyp2c37 |
T |
C |
19: 39,981,023 (GRCm39) |
V47A |
probably benign |
Het |
| Ddc |
T |
A |
11: 11,789,462 (GRCm39) |
D271V |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,042,708 (GRCm39) |
A3290V |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,302,811 (GRCm39) |
S20T |
possibly damaging |
Het |
| Egf |
A |
C |
3: 129,533,642 (GRCm39) |
I66S |
probably damaging |
Het |
| Eif4a3 |
T |
C |
11: 119,184,387 (GRCm39) |
K268E |
probably damaging |
Het |
| Fbxl16 |
A |
T |
17: 26,038,338 (GRCm39) |
|
probably benign |
Het |
| Fez2 |
C |
T |
17: 78,689,029 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
C |
A |
5: 96,929,551 (GRCm39) |
T3985K |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,284,887 (GRCm39) |
M1V |
probably null |
Het |
| Grm5 |
A |
T |
7: 87,724,220 (GRCm39) |
T837S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,752 (GRCm39) |
T1153A |
possibly damaging |
Het |
| Hp |
C |
T |
8: 110,302,415 (GRCm39) |
V178I |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,276,922 (GRCm39) |
V4061E |
probably damaging |
Het |
| Msto1 |
C |
A |
3: 88,820,993 (GRCm39) |
R34L |
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,254,756 (GRCm39) |
T519M |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,448,301 (GRCm39) |
N25K |
probably damaging |
Het |
| Ncapd2 |
A |
G |
6: 125,145,582 (GRCm39) |
V1355A |
possibly damaging |
Het |
| Nhlrc2 |
C |
A |
19: 56,540,231 (GRCm39) |
Y73* |
probably null |
Het |
| Nwd2 |
A |
T |
5: 63,965,626 (GRCm39) |
S1737C |
possibly damaging |
Het |
| Or1p1 |
T |
A |
11: 74,180,254 (GRCm39) |
C261S |
possibly damaging |
Het |
| Osmr |
A |
G |
15: 6,873,908 (GRCm39) |
V163A |
probably damaging |
Het |
| Palm3 |
T |
C |
8: 84,756,074 (GRCm39) |
S529P |
possibly damaging |
Het |
| Pcnt |
A |
G |
10: 76,247,422 (GRCm39) |
Y1037H |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,393,425 (GRCm39) |
I1920T |
possibly damaging |
Het |
| Plekha7 |
A |
G |
7: 115,744,479 (GRCm39) |
|
probably benign |
Het |
| Psd |
C |
T |
19: 46,303,097 (GRCm39) |
G762R |
probably damaging |
Het |
| Psmb8 |
A |
G |
17: 34,418,210 (GRCm39) |
T51A |
probably benign |
Het |
| Rbm12 |
A |
C |
2: 155,937,302 (GRCm39) |
|
probably benign |
Het |
| Rictor |
T |
A |
15: 6,804,085 (GRCm39) |
|
probably null |
Het |
| Slc24a5 |
G |
A |
2: 124,922,800 (GRCm39) |
G158S |
probably damaging |
Het |
| Spata31f1a |
G |
T |
4: 42,850,963 (GRCm39) |
L398I |
probably benign |
Het |
| Stag1 |
A |
G |
9: 100,833,841 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
A |
G |
9: 67,302,749 (GRCm39) |
M74T |
probably benign |
Het |
| Trim24 |
C |
A |
6: 37,942,570 (GRCm39) |
D957E |
possibly damaging |
Het |
| Trpa1 |
A |
T |
1: 14,966,771 (GRCm39) |
M531K |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,736,637 (GRCm39) |
Y4376H |
possibly damaging |
Het |
| Twsg1 |
T |
C |
17: 66,255,646 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,367,676 (GRCm39) |
V1671E |
probably damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,423,020 (GRCm39) |
D1006G |
probably benign |
Het |
|
| Other mutations in Gpnmb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01064:Gpnmb
|
APN |
6 |
49,032,593 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01291:Gpnmb
|
APN |
6 |
49,032,615 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01398:Gpnmb
|
APN |
6 |
49,027,365 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01531:Gpnmb
|
APN |
6 |
49,024,392 (GRCm39) |
splice site |
probably benign |
|
|
IGL01936:Gpnmb
|
APN |
6 |
49,024,384 (GRCm39) |
missense |
probably null |
1.00 |
|
ANU05:Gpnmb
|
UTSW |
6 |
49,032,615 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0242:Gpnmb
|
UTSW |
6 |
49,024,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Gpnmb
|
UTSW |
6 |
49,024,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0413:Gpnmb
|
UTSW |
6 |
49,019,737 (GRCm39) |
missense |
probably benign |
|
|
R0690:Gpnmb
|
UTSW |
6 |
49,024,949 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0884:Gpnmb
|
UTSW |
6 |
49,024,847 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1659:Gpnmb
|
UTSW |
6 |
49,024,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3703:Gpnmb
|
UTSW |
6 |
49,028,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3705:Gpnmb
|
UTSW |
6 |
49,028,799 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4629:Gpnmb
|
UTSW |
6 |
49,027,994 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4782:Gpnmb
|
UTSW |
6 |
49,022,417 (GRCm39) |
splice site |
probably null |
|
|
R4799:Gpnmb
|
UTSW |
6 |
49,022,417 (GRCm39) |
splice site |
probably null |
|
|
R4916:Gpnmb
|
UTSW |
6 |
49,028,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Gpnmb
|
UTSW |
6 |
49,033,139 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5390:Gpnmb
|
UTSW |
6 |
49,024,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5512:Gpnmb
|
UTSW |
6 |
49,022,398 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5833:Gpnmb
|
UTSW |
6 |
49,020,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6103:Gpnmb
|
UTSW |
6 |
49,019,820 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7211:Gpnmb
|
UTSW |
6 |
49,028,949 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7900:Gpnmb
|
UTSW |
6 |
49,027,400 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8859:Gpnmb
|
UTSW |
6 |
49,028,964 (GRCm39) |
splice site |
probably benign |
|
|
R9383:Gpnmb
|
UTSW |
6 |
49,028,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9393:Gpnmb
|
UTSW |
6 |
49,024,996 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1176:Gpnmb
|
UTSW |
6 |
49,028,766 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Posted On |
2013-10-07 |
Incidental Mutation