Incidental Mutation 'IGL02080:Tmem144'
| ID |
186103 |
| 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: 0.070)
|
| Stock # |
IGL02080
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
79719871-79760080 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 79730066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029568]
[ENSMUST00000168038]
|
| AlphaFold |
Q8VEH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029568
|
| SMART Domains |
Protein: ENSMUSP00000029568
Gene: ENSMUSG00000027956
| 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 |
probably benign
Transcript: ENSMUST00000168038
|
| SMART Domains |
Protein: ENSMUSP00000127837
Gene: ENSMUSG00000027956
| 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 |
|---|
| Cd33 |
A |
G |
7: 43,178,274 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dnajc1 |
A |
G |
2: 18,321,159 (GRCm39) |
|
probably benign |
Het |
| Dpysl2 |
A |
T |
14: 67,067,394 (GRCm39) |
D172E |
probably benign |
Het |
| Fbxw28 |
A |
G |
9: 109,168,641 (GRCm39) |
L17P |
probably damaging |
Het |
| Gprin3 |
C |
A |
6: 59,331,176 (GRCm39) |
R377M |
possibly damaging |
Het |
| Hectd4 |
T |
A |
5: 121,504,669 (GRCm39) |
|
probably benign |
Het |
| Kif26a |
G |
T |
12: 112,124,000 (GRCm39) |
A202S |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,371,440 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrit2 |
A |
G |
14: 36,791,031 (GRCm39) |
K237E |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,174,638 (GRCm39) |
V1729A |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,888,095 (GRCm39) |
S100P |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,088,502 (GRCm39) |
D166G |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,846 (GRCm39) |
F288S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,579 (GRCm39) |
N172K |
probably damaging |
Het |
| Pkd1l1 |
T |
A |
11: 8,911,345 (GRCm39) |
N311Y |
unknown |
Het |
| Ppara |
A |
G |
15: 85,673,220 (GRCm39) |
D137G |
possibly damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scube2 |
A |
G |
7: 109,451,685 (GRCm39) |
F156S |
probably damaging |
Het |
| Setd2 |
T |
G |
9: 110,376,518 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 87,145,383 (GRCm39) |
C224R |
probably damaging |
Het |
| Snrnp48 |
A |
G |
13: 38,400,466 (GRCm39) |
D191G |
probably damaging |
Het |
| Spo11 |
A |
G |
2: 172,831,188 (GRCm39) |
Y266C |
probably damaging |
Het |
| Tsacc |
A |
T |
3: 88,202,696 (GRCm39) |
|
probably null |
Het |
| Unc5d |
T |
C |
8: 29,381,316 (GRCm39) |
|
probably null |
Het |
| Unc79 |
A |
G |
12: 102,968,234 (GRCm39) |
I153M |
probably damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,759 (GRCm39) |
C178R |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,933,120 (GRCm39) |
S227T |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
IGL02191:Tmem144
|
APN |
3 |
79,734,159 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
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 |
2014-05-07 |
Incidental Mutation