Incidental Mutation 'IGL00688:Tmem69'
| ID |
14506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem69
|
| Ensembl Gene |
ENSMUSG00000055900 |
| Gene Name |
transmembrane protein 69 |
| Synonyms |
A630048M13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
IGL00688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
116408830-116413133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116410671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 100
(I100V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030460]
[ENSMUST00000069674]
[ENSMUST00000106475]
[ENSMUST00000106478]
|
| AlphaFold |
Q3KQJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030460
|
| SMART Domains |
Protein: ENSMUSP00000030460
Gene: ENSMUSG00000034042
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
|
Pfam:Vasculin
|
376 |
470 |
5.1e-48 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069674
AA Change: I100V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000065821
Gene: ENSMUSG00000055900
AA Change: I100V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3429
|
91 |
232 |
1.5e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106475
|
| SMART Domains |
Protein: ENSMUSP00000102083
Gene: ENSMUSG00000034042
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
320 |
N/A |
INTRINSIC |
|
Pfam:Vasculin
|
377 |
470 |
1.3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106478
AA Change: I100V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000102087
Gene: ENSMUSG00000055900
AA Change: I100V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3429
|
93 |
231 |
3.9e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129201
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138426
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,451,443 (GRCm39) |
L216F |
probably benign |
Het |
| Atg13 |
A |
T |
2: 91,516,842 (GRCm39) |
|
probably benign |
Het |
| Fgf7 |
A |
G |
2: 125,931,365 (GRCm39) |
T157A |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,464,744 (GRCm39) |
H438R |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,315,892 (GRCm39) |
T49A |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,945,171 (GRCm39) |
K693E |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,300,345 (GRCm39) |
D45E |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Prlr |
T |
C |
15: 10,322,467 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,214,012 (GRCm39) |
K789E |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,482,746 (GRCm39) |
S154R |
probably benign |
Het |
| Setx |
T |
A |
2: 29,038,457 (GRCm39) |
S1647R |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,775,966 (GRCm39) |
E174G |
probably damaging |
Het |
| Taf1 |
A |
G |
X: 100,606,545 (GRCm39) |
E1248G |
probably damaging |
Het |
| Tanc1 |
T |
G |
2: 59,645,735 (GRCm39) |
L929R |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
|
| Other mutations in Tmem69 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02893:Tmem69
|
APN |
4 |
116,410,926 (GRCm39) |
missense |
probably benign |
|
|
R0551:Tmem69
|
UTSW |
4 |
116,410,470 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2656:Tmem69
|
UTSW |
4 |
116,410,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4393:Tmem69
|
UTSW |
4 |
116,411,964 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4632:Tmem69
|
UTSW |
4 |
116,410,235 (GRCm39) |
missense |
probably benign |
|
|
R5277:Tmem69
|
UTSW |
4 |
116,410,458 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5559:Tmem69
|
UTSW |
4 |
116,410,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Tmem69
|
UTSW |
4 |
116,410,581 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6954:Tmem69
|
UTSW |
4 |
116,411,921 (GRCm39) |
splice site |
probably null |
|
|
R7403:Tmem69
|
UTSW |
4 |
116,410,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7778:Tmem69
|
UTSW |
4 |
116,410,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Tmem69
|
UTSW |
4 |
116,411,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation