Incidental Mutation 'IGL02191:Tmem144'
| ID |
283859 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem144
|
| Ensembl Gene |
ENSMUSG00000027956 |
| Gene Name |
transmembrane protein 144 |
| Synonyms |
5730537D05Rik, 1110057I03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
IGL02191
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79719871-79760080 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79734159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 181
(D181E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029568]
[ENSMUST00000168038]
|
| AlphaFold |
Q8VEH0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029568
AA Change: D181E
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
AA Change: D181E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1632
|
11 |
266 |
3.7e-107 |
PFAM |
|
Pfam:Sugar_transport
|
238 |
348 |
3.6e-12 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168038
AA Change: D181E
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
AA Change: D181E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM144
|
9 |
347 |
9.1e-142 |
PFAM |
|
Pfam:Sugar_transport
|
238 |
348 |
4.9e-13 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn1 |
T |
C |
12: 80,220,883 (GRCm39) |
I642V |
probably benign |
Het |
| Adam5 |
G |
A |
8: 25,302,439 (GRCm39) |
R185* |
probably null |
Het |
| C2 |
T |
C |
17: 35,085,539 (GRCm39) |
I122V |
probably damaging |
Het |
| Camsap1 |
A |
G |
2: 25,819,892 (GRCm39) |
I1531T |
probably damaging |
Het |
| Celsr1 |
T |
C |
15: 85,863,205 (GRCm39) |
T1276A |
possibly damaging |
Het |
| Cnot7 |
A |
T |
8: 40,963,068 (GRCm39) |
N35K |
probably benign |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,036 (GRCm39) |
I482V |
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,302,495 (GRCm39) |
E97G |
probably damaging |
Het |
| Cyp51 |
C |
A |
5: 4,150,147 (GRCm39) |
R192I |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,896 (GRCm39) |
L189P |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 72,994,780 (GRCm39) |
I4127T |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,815,340 (GRCm39) |
V1217I |
probably benign |
Het |
| Ergic2 |
T |
C |
6: 148,106,319 (GRCm39) |
D57G |
probably null |
Het |
| Flvcr2 |
A |
T |
12: 85,832,966 (GRCm39) |
K329* |
probably null |
Het |
| Foxp1 |
T |
C |
6: 98,922,561 (GRCm39) |
S327G |
probably damaging |
Het |
| Gen1 |
A |
C |
12: 11,292,297 (GRCm39) |
H562Q |
probably benign |
Het |
| Gjc2 |
A |
G |
11: 59,068,386 (GRCm39) |
V32A |
probably damaging |
Het |
| Grk4 |
C |
T |
5: 34,912,533 (GRCm39) |
H574Y |
probably benign |
Het |
| Kif15 |
T |
A |
9: 122,804,744 (GRCm39) |
C93S |
probably damaging |
Het |
| Lrtm1 |
A |
C |
14: 28,743,906 (GRCm39) |
I125L |
probably benign |
Het |
| Mrgprb8 |
A |
G |
7: 48,038,527 (GRCm39) |
Y66C |
probably damaging |
Het |
| Pfn1 |
G |
A |
11: 70,545,209 (GRCm39) |
A33V |
probably damaging |
Het |
| Scnn1b |
A |
C |
7: 121,516,736 (GRCm39) |
K492Q |
probably damaging |
Het |
| Slc22a29 |
G |
A |
19: 8,196,045 (GRCm39) |
|
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,847,380 (GRCm39) |
D523G |
probably damaging |
Het |
| Tmem220 |
G |
A |
11: 66,921,933 (GRCm39) |
C101Y |
probably damaging |
Het |
| Tmpo |
A |
G |
10: 90,997,741 (GRCm39) |
V682A |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,968 (GRCm39) |
K34R |
probably damaging |
Het |
| Zdhhc16 |
C |
A |
19: 41,926,130 (GRCm39) |
C8* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in Tmem144 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00594:Tmem144
|
APN |
3 |
79,746,474 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01924:Tmem144
|
APN |
3 |
79,746,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02080:Tmem144
|
APN |
3 |
79,730,066 (GRCm39) |
splice site |
probably benign |
|
|
IGL02880:Tmem144
|
APN |
3 |
79,734,929 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4486001:Tmem144
|
UTSW |
3 |
79,734,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0080:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0081:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0164:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0172:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0173:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0284:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0285:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0288:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R0445:Tmem144
|
UTSW |
3 |
79,732,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0549:Tmem144
|
UTSW |
3 |
79,730,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0687:Tmem144
|
UTSW |
3 |
79,746,580 (GRCm39) |
start gained |
probably benign |
|
|
R1720:Tmem144
|
UTSW |
3 |
79,732,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Tmem144
|
UTSW |
3 |
79,732,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Tmem144
|
UTSW |
3 |
79,732,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1955:Tmem144
|
UTSW |
3 |
79,734,164 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1978:Tmem144
|
UTSW |
3 |
79,732,707 (GRCm39) |
splice site |
probably null |
|
|
R2025:Tmem144
|
UTSW |
3 |
79,735,018 (GRCm39) |
splice site |
probably null |
|
|
R5241:Tmem144
|
UTSW |
3 |
79,721,431 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6674:Tmem144
|
UTSW |
3 |
79,746,490 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6862:Tmem144
|
UTSW |
3 |
79,739,406 (GRCm39) |
missense |
probably benign |
|
|
R7536:Tmem144
|
UTSW |
3 |
79,734,964 (GRCm39) |
missense |
probably benign |
|
|
R8033:Tmem144
|
UTSW |
3 |
79,732,624 (GRCm39) |
missense |
probably benign |
|
|
R8746:Tmem144
|
UTSW |
3 |
79,732,655 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8748:Tmem144
|
UTSW |
3 |
79,743,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9223:Tmem144
|
UTSW |
3 |
79,734,964 (GRCm39) |
missense |
probably benign |
|
|
R9641:Tmem144
|
UTSW |
3 |
79,734,200 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9658:Tmem144
|
UTSW |
3 |
79,729,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF012:Tmem144
|
UTSW |
3 |
79,729,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation