Incidental Mutation 'IGL01434:Tmem120a'
| ID |
84267 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem120a
|
| Ensembl Gene |
ENSMUSG00000039886 |
| Gene Name |
transmembrane protein 120A |
| Synonyms |
Tmpit, 2010310D06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.913)
|
| Stock # |
IGL01434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
135764344-135773026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 135765864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 127
(F127L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005651]
[ENSMUST00000043378]
[ENSMUST00000122113]
[ENSMUST00000153399]
|
| AlphaFold |
Q8C1E7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005651
|
| SMART Domains |
Protein: ENSMUSP00000005651
Gene: ENSMUSG00000005514
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
82 |
219 |
1.6e-40 |
PFAM |
|
Pfam:FAD_binding_1
|
274 |
493 |
1.3e-84 |
PFAM |
|
Pfam:NAD_binding_1
|
530 |
642 |
2.8e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043378
AA Change: F127L
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000045252
Gene: ENSMUSG00000039886
AA Change: F127L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
13 |
336 |
4.2e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122113
|
| SMART Domains |
Protein: ENSMUSP00000112924
Gene: ENSMUSG00000005514
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Flavodoxin_1
|
82 |
219 |
2.6e-40 |
PFAM |
|
Pfam:FAD_binding_1
|
274 |
493 |
5.1e-87 |
PFAM |
|
Pfam:NAD_binding_1
|
530 |
605 |
3.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127156
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141779
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199952
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184682
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153399
|
| SMART Domains |
Protein: ENSMUSP00000120834
Gene: ENSMUSG00000039886
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMPIT
|
12 |
93 |
9e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
A |
G |
7: 119,380,297 (GRCm39) |
|
probably benign |
Het |
| Adcy7 |
A |
G |
8: 89,051,472 (GRCm39) |
N864S |
probably damaging |
Het |
| Anapc7 |
A |
G |
5: 122,576,279 (GRCm39) |
D302G |
probably benign |
Het |
| Atm |
A |
T |
9: 53,419,107 (GRCm39) |
C782S |
probably benign |
Het |
| Bicdl1 |
G |
A |
5: 115,808,215 (GRCm39) |
Q37* |
probably null |
Het |
| Cabin1 |
T |
C |
10: 75,561,420 (GRCm39) |
D1027G |
possibly damaging |
Het |
| Cbl |
T |
C |
9: 44,075,503 (GRCm39) |
I364V |
probably damaging |
Het |
| Ccer1 |
T |
C |
10: 97,529,459 (GRCm39) |
S41P |
unknown |
Het |
| Cenpf |
G |
A |
1: 189,390,065 (GRCm39) |
Q1256* |
probably null |
Het |
| Copa |
T |
A |
1: 171,947,128 (GRCm39) |
I1093N |
probably benign |
Het |
| Cped1 |
C |
T |
6: 22,017,004 (GRCm39) |
L118F |
probably damaging |
Het |
| Cplane2 |
T |
C |
4: 140,945,964 (GRCm39) |
V169A |
probably benign |
Het |
| Cstdc4 |
T |
A |
16: 36,006,777 (GRCm39) |
V37E |
probably benign |
Het |
| Dner |
T |
C |
1: 84,361,731 (GRCm39) |
H626R |
probably benign |
Het |
| Ears2 |
G |
A |
7: 121,662,311 (GRCm39) |
|
probably benign |
Het |
| Eif3c |
A |
G |
7: 126,155,582 (GRCm39) |
I562T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,769,090 (GRCm39) |
Y685C |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,320,700 (GRCm39) |
V108A |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,982 (GRCm39) |
K321E |
probably damaging |
Het |
| Hspd1 |
C |
T |
1: 55,120,285 (GRCm39) |
G306R |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,614,306 (GRCm39) |
Y138C |
probably damaging |
Het |
| Lhcgr |
A |
G |
17: 89,049,865 (GRCm39) |
Y554H |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 50,350,956 (GRCm39) |
K534N |
probably benign |
Het |
| Nob1 |
A |
G |
8: 108,151,360 (GRCm39) |
|
probably benign |
Het |
| Or13a17 |
G |
A |
7: 140,271,531 (GRCm39) |
A238T |
probably damaging |
Het |
| Phf12 |
C |
T |
11: 77,914,385 (GRCm39) |
P60L |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,531,451 (GRCm39) |
E1358G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,029,566 (GRCm39) |
T997A |
probably benign |
Het |
| Slc9a9 |
T |
A |
9: 94,901,247 (GRCm39) |
N393K |
possibly damaging |
Het |
| Sohlh2 |
T |
C |
3: 55,102,582 (GRCm39) |
S206P |
probably damaging |
Het |
| Stard10 |
G |
A |
7: 100,971,187 (GRCm39) |
V125M |
probably benign |
Het |
| Tff2 |
G |
T |
17: 31,362,240 (GRCm39) |
|
probably null |
Het |
| Tha1 |
T |
C |
11: 117,759,425 (GRCm39) |
T355A |
probably benign |
Het |
| Tmem41b |
A |
G |
7: 109,577,909 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
C |
15: 76,515,302 (GRCm39) |
D1028G |
probably benign |
Het |
|
| Other mutations in Tmem120a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02548:Tmem120a
|
APN |
5 |
135,765,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02941:Tmem120a
|
APN |
5 |
135,764,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Tmem120a
|
UTSW |
5 |
135,771,252 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0971:Tmem120a
|
UTSW |
5 |
135,764,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2117:Tmem120a
|
UTSW |
5 |
135,764,977 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2392:Tmem120a
|
UTSW |
5 |
135,770,892 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3973:Tmem120a
|
UTSW |
5 |
135,765,131 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4209:Tmem120a
|
UTSW |
5 |
135,764,559 (GRCm39) |
missense |
probably benign |
|
|
R5393:Tmem120a
|
UTSW |
5 |
135,765,104 (GRCm39) |
splice site |
probably null |
|
|
R5629:Tmem120a
|
UTSW |
5 |
135,770,904 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7430:Tmem120a
|
UTSW |
5 |
135,764,990 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7899:Tmem120a
|
UTSW |
5 |
135,766,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7949:Tmem120a
|
UTSW |
5 |
135,771,220 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9102:Tmem120a
|
UTSW |
5 |
135,765,455 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Posted On |
2013-11-11 |
Incidental Mutation