Incidental Mutation 'IGL03060:Tmed9'
| ID |
409408 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmed9
|
| Ensembl Gene |
ENSMUSG00000058569 |
| Gene Name |
transmembrane p24 trafficking protein 9 |
| Synonyms |
2400003B06Rik, p24alpha2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.278)
|
| Stock # |
IGL03060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55740948-55745510 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55743321 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 151
(D151G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105531
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064701]
[ENSMUST00000100764]
[ENSMUST00000109905]
[ENSMUST00000133176]
[ENSMUST00000224741]
|
| AlphaFold |
Q99KF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064701
|
| SMART Domains |
Protein: ENSMUSP00000068532
Gene: ENSMUSG00000021504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
62 |
177 |
8.5e-27 |
PFAM |
|
Pfam:Glyco_transf_7C
|
181 |
260 |
2.6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100764
|
| SMART Domains |
Protein: ENSMUSP00000098327
Gene: ENSMUSG00000021504
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_7N
|
72 |
180 |
9.2e-29 |
PFAM |
|
Pfam:Glyco_transf_7C
|
181 |
263 |
1.3e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109905
AA Change: D151G
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000105531
Gene: ENSMUSG00000058569
AA Change: D151G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
37 |
230 |
2.43e-79 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133176
|
| SMART Domains |
Protein: ENSMUSP00000123292
Gene: ENSMUSG00000021504
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyco_transf_7N
|
18 |
124 |
1.1e-28 |
PFAM |
|
Pfam:Glyco_transf_7C
|
125 |
204 |
5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142654
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224634
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224741
AA Change: D125G
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225888
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225723
|
| 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 is a member of a family of genes encoding transport proteins located in the endoplasmic reticulum and the Golgi. A similar gene in mouse is the target of microRNA miR-296, which is part of an imprinted cluster. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
G |
A |
19: 56,902,682 (GRCm39) |
Q720* |
probably null |
Het |
| Amph |
A |
G |
13: 19,278,984 (GRCm39) |
E153G |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,985,842 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,450 (GRCm39) |
D683G |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,461,907 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
| Dhrs2 |
C |
A |
14: 55,474,775 (GRCm39) |
Q137K |
probably benign |
Het |
| Fam124a |
A |
G |
14: 62,843,353 (GRCm39) |
Y287C |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gm9637 |
G |
A |
14: 19,402,173 (GRCm38) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,871,015 (GRCm39) |
|
probably null |
Het |
| Iars1 |
G |
A |
13: 49,843,923 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
T |
16: 16,680,291 (GRCm39) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,432,196 (GRCm39) |
Y361H |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,765 (GRCm39) |
H105Q |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,305,084 (GRCm39) |
M111T |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,929,523 (GRCm39) |
R27W |
probably damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,522 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,671 (GRCm39) |
D1768V |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,168,159 (GRCm39) |
Q441L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,327,045 (GRCm39) |
Y84N |
probably damaging |
Het |
| Ntmt2 |
T |
C |
1: 163,544,692 (GRCm39) |
D97G |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,289 (GRCm39) |
F288S |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,196 (GRCm39) |
L137P |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,972,834 (GRCm39) |
V248A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,002,149 (GRCm39) |
C1868S |
probably damaging |
Het |
| Sec23a |
A |
T |
12: 59,032,891 (GRCm39) |
C403S |
probably benign |
Het |
| Skint4 |
G |
A |
4: 111,975,432 (GRCm39) |
V131I |
probably benign |
Het |
| Sugp2 |
T |
C |
8: 70,695,837 (GRCm39) |
V270A |
possibly damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,007,071 (GRCm39) |
|
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,148 (GRCm39) |
R512G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,676,169 (GRCm39) |
Y1999C |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,640,523 (GRCm39) |
C2320S |
probably damaging |
Het |
|
| Other mutations in Tmed9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00496:Tmed9
|
APN |
13 |
55,741,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02178:Tmed9
|
APN |
13 |
55,741,108 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03323:Tmed9
|
APN |
13 |
55,744,691 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2190:Tmed9
|
UTSW |
13 |
55,741,156 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3038:Tmed9
|
UTSW |
13 |
55,744,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3413:Tmed9
|
UTSW |
13 |
55,743,387 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7298:Tmed9
|
UTSW |
13 |
55,741,107 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7751:Tmed9
|
UTSW |
13 |
55,741,054 (GRCm39) |
missense |
not run |
|
|
R7800:Tmed9
|
UTSW |
13 |
55,743,345 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8343:Tmed9
|
UTSW |
13 |
55,742,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Tmed9
|
UTSW |
13 |
55,744,775 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Posted On |
2016-08-02 |
Incidental Mutation