Incidental Mutation 'IGL02648:Tmem259'
ID |
302037 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmem259
|
Ensembl Gene |
ENSMUSG00000013858 |
Gene Name |
transmembrane protein 259 |
Synonyms |
ORF61, membralin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02648
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
79812954-79820159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79813651 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 443
(P443S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045085]
[ENSMUST00000052885]
|
AlphaFold |
Q8CIV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045085
|
SMART Domains |
Protein: ENSMUSP00000048576 Gene: ENSMUSG00000035745
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
low complexity region
|
39 |
60 |
N/A |
INTRINSIC |
low complexity region
|
217 |
230 |
N/A |
INTRINSIC |
PBPe
|
458 |
810 |
1.01e-82 |
SMART |
Lig_chan-Glu_bd
|
459 |
522 |
6.6e-20 |
SMART |
transmembrane domain
|
826 |
848 |
N/A |
INTRINSIC |
low complexity region
|
914 |
930 |
N/A |
INTRINSIC |
coiled coil region
|
950 |
984 |
N/A |
INTRINSIC |
low complexity region
|
989 |
1001 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052885
AA Change: P443S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056792 Gene: ENSMUSG00000013858 AA Change: P443S
Domain | Start | End | E-Value | Type |
Pfam:Membralin
|
34 |
131 |
3.3e-44 |
PFAM |
Pfam:Membralin
|
138 |
393 |
3.9e-130 |
PFAM |
transmembrane domain
|
394 |
411 |
N/A |
INTRINSIC |
low complexity region
|
455 |
470 |
N/A |
INTRINSIC |
low complexity region
|
483 |
521 |
N/A |
INTRINSIC |
low complexity region
|
531 |
544 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000124536
AA Change: P436S
|
SMART Domains |
Protein: ENSMUSP00000119572 Gene: ENSMUSG00000013858 AA Change: P436S
Domain | Start | End | E-Value | Type |
Pfam:Membralin
|
4 |
101 |
1.6e-44 |
PFAM |
Pfam:Membralin
|
108 |
297 |
7.7e-83 |
PFAM |
Pfam:Membralin
|
316 |
387 |
5e-42 |
PFAM |
transmembrane domain
|
388 |
405 |
N/A |
INTRINSIC |
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
low complexity region
|
477 |
515 |
N/A |
INTRINSIC |
low complexity region
|
525 |
538 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124889
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126383
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131816
|
SMART Domains |
Protein: ENSMUSP00000122984 Gene: ENSMUSG00000035745
Domain | Start | End | E-Value | Type |
Pfam:Lig_chan
|
1 |
368 |
2.2e-20 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132080
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149148
|
SMART Domains |
Protein: ENSMUSP00000116887 Gene: ENSMUSG00000035745
Domain | Start | End | E-Value | Type |
PBPe
|
100 |
452 |
1.01e-82 |
SMART |
Lig_chan-Glu_bd
|
101 |
164 |
6.6e-20 |
SMART |
transmembrane domain
|
468 |
490 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
A |
T |
4: 144,344,392 (GRCm39) |
|
probably null |
Het |
Acp4 |
A |
G |
7: 43,904,414 (GRCm39) |
|
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,659,738 (GRCm39) |
M1997K |
probably benign |
Het |
Arhgdib |
T |
C |
6: 136,910,647 (GRCm39) |
D38G |
probably damaging |
Het |
Bbox1 |
T |
G |
2: 110,135,871 (GRCm39) |
D36A |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,734,457 (GRCm39) |
K104R |
probably damaging |
Het |
Cacna1i |
G |
A |
15: 80,182,839 (GRCm39) |
C75Y |
probably damaging |
Het |
Ccdc14 |
T |
C |
16: 34,517,528 (GRCm39) |
L70S |
probably damaging |
Het |
Ccdc88a |
T |
G |
11: 29,451,051 (GRCm39) |
V1580G |
probably benign |
Het |
Cdadc1 |
C |
A |
14: 59,823,812 (GRCm39) |
D227Y |
probably damaging |
Het |
Chd3 |
T |
C |
11: 69,242,976 (GRCm39) |
Y1415C |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,428,489 (GRCm39) |
N493S |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Gm10549 |
C |
A |
18: 33,597,303 (GRCm39) |
|
probably benign |
Het |
Greb1 |
C |
T |
12: 16,758,683 (GRCm39) |
V678M |
probably damaging |
Het |
Gucy2c |
G |
A |
6: 136,706,211 (GRCm39) |
R497* |
probably null |
Het |
Itgad |
T |
C |
7: 127,782,546 (GRCm39) |
|
probably benign |
Het |
Lgr4 |
C |
A |
2: 109,842,718 (GRCm39) |
T877K |
probably damaging |
Het |
Lrig3 |
A |
G |
10: 125,802,463 (GRCm39) |
D40G |
probably benign |
Het |
Myo3b |
T |
C |
2: 69,935,716 (GRCm39) |
|
probably benign |
Het |
Neb |
A |
G |
2: 52,161,093 (GRCm39) |
Y2193H |
possibly damaging |
Het |
Or4b1 |
T |
A |
2: 89,979,697 (GRCm39) |
I218F |
possibly damaging |
Het |
Or8b3b |
T |
C |
9: 38,584,312 (GRCm39) |
M143V |
probably benign |
Het |
Pard6b |
A |
G |
2: 167,940,847 (GRCm39) |
Q278R |
probably benign |
Het |
Pate10 |
A |
T |
9: 35,652,405 (GRCm39) |
M21L |
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,143,975 (GRCm39) |
Y366C |
possibly damaging |
Het |
Prl2c1 |
A |
G |
13: 28,041,542 (GRCm39) |
D188G |
probably benign |
Het |
Prl3a1 |
G |
T |
13: 27,454,218 (GRCm39) |
M65I |
probably benign |
Het |
Psg26 |
T |
A |
7: 18,216,691 (GRCm39) |
E49D |
probably benign |
Het |
Rapgef3 |
G |
A |
15: 97,656,273 (GRCm39) |
R38W |
probably damaging |
Het |
Rrn3 |
T |
C |
16: 13,629,453 (GRCm39) |
F590L |
probably benign |
Het |
Serpina12 |
T |
C |
12: 104,004,267 (GRCm39) |
K122E |
probably benign |
Het |
Slc39a6 |
T |
C |
18: 24,715,424 (GRCm39) |
I699V |
probably damaging |
Het |
Vmn1r75 |
T |
A |
7: 11,615,091 (GRCm39) |
F274L |
probably benign |
Het |
|
Other mutations in Tmem259 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Tmem259
|
APN |
10 |
79,815,568 (GRCm39) |
missense |
probably benign |
0.12 |
IGL01022:Tmem259
|
APN |
10 |
79,819,808 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02113:Tmem259
|
APN |
10 |
79,814,543 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02218:Tmem259
|
APN |
10 |
79,814,151 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02272:Tmem259
|
APN |
10 |
79,814,297 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02735:Tmem259
|
APN |
10 |
79,814,973 (GRCm39) |
missense |
probably damaging |
1.00 |
R0244:Tmem259
|
UTSW |
10 |
79,814,797 (GRCm39) |
missense |
probably damaging |
1.00 |
R0535:Tmem259
|
UTSW |
10 |
79,814,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R3824:Tmem259
|
UTSW |
10 |
79,814,282 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3825:Tmem259
|
UTSW |
10 |
79,814,282 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5564:Tmem259
|
UTSW |
10 |
79,814,442 (GRCm39) |
splice site |
probably null |
|
R6773:Tmem259
|
UTSW |
10 |
79,813,422 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6979:Tmem259
|
UTSW |
10 |
79,814,391 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7288:Tmem259
|
UTSW |
10 |
79,814,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Tmem259
|
UTSW |
10 |
79,815,506 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7677:Tmem259
|
UTSW |
10 |
79,814,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R8531:Tmem259
|
UTSW |
10 |
79,813,819 (GRCm39) |
missense |
probably damaging |
0.98 |
R8826:Tmem259
|
UTSW |
10 |
79,814,983 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tmem259
|
UTSW |
10 |
79,814,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2015-04-16 |