Incidental Mutation 'IGL00925:Tmem45a2'
| ID |
29144 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem45a2
|
| Ensembl Gene |
ENSMUSG00000046748 |
| Gene Name |
transmembrane protein 45A2 |
| Synonyms |
2310005G13Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL00925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
56857330-56891735 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56865618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 189
(N189Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067173]
[ENSMUST00000227043]
|
| AlphaFold |
B7ZWJ5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067173
AA Change: N189Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000070137
Gene: ENSMUSG00000046748
AA Change: N189Y
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
transmembrane domain
|
66 |
88 |
N/A |
INTRINSIC |
|
transmembrane domain
|
108 |
126 |
N/A |
INTRINSIC |
|
Pfam:DUF716
|
133 |
255 |
9.1e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226147
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227043
AA Change: N189Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
T |
A |
6: 48,907,974 (GRCm39) |
Y325N |
probably damaging |
Het |
| Atoh8 |
A |
G |
6: 72,211,553 (GRCm39) |
V199A |
probably benign |
Het |
| Celf2 |
A |
T |
2: 6,726,388 (GRCm39) |
D6E |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,621,090 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,498,190 (GRCm39) |
Y118H |
possibly damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,737 (GRCm39) |
S200P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,193 (GRCm39) |
N474K |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,171,109 (GRCm39) |
V59A |
probably damaging |
Het |
| Ocrl |
A |
G |
X: 47,035,974 (GRCm39) |
E565G |
probably benign |
Het |
| Or5al7 |
T |
C |
2: 85,993,264 (GRCm39) |
T10A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,816,755 (GRCm39) |
S4544P |
unknown |
Het |
| Per3 |
T |
C |
4: 151,098,055 (GRCm39) |
Y693C |
probably benign |
Het |
| Prkacb |
G |
T |
3: 146,453,797 (GRCm39) |
P167H |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,498,083 (GRCm39) |
S837P |
possibly damaging |
Het |
| Sema7a |
G |
T |
9: 57,863,121 (GRCm39) |
C264F |
probably damaging |
Het |
| Slitrk4 |
G |
T |
X: 63,315,657 (GRCm39) |
P337T |
probably damaging |
Het |
| Tango6 |
T |
G |
8: 107,422,077 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,286,331 (GRCm39) |
D775G |
probably benign |
Het |
| Ttc8 |
A |
G |
12: 98,942,277 (GRCm39) |
N364S |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,535 (GRCm39) |
D697G |
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,615 (GRCm39) |
L297F |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,194,885 (GRCm39) |
T814A |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,978,684 (GRCm39) |
T198A |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,518 (GRCm39) |
P676L |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,815,342 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem45a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01121:Tmem45a2
|
APN |
16 |
56,861,153 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL01481:Tmem45a2
|
APN |
16 |
56,867,375 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0230:Tmem45a2
|
UTSW |
16 |
56,867,359 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0633:Tmem45a2
|
UTSW |
16 |
56,869,777 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0850:Tmem45a2
|
UTSW |
16 |
56,865,732 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1164:Tmem45a2
|
UTSW |
16 |
56,869,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1874:Tmem45a2
|
UTSW |
16 |
56,867,447 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3938:Tmem45a2
|
UTSW |
16 |
56,859,398 (GRCm39) |
missense |
probably benign |
|
|
R4084:Tmem45a2
|
UTSW |
16 |
56,891,387 (GRCm39) |
missense |
probably benign |
|
|
R5309:Tmem45a2
|
UTSW |
16 |
56,859,370 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5312:Tmem45a2
|
UTSW |
16 |
56,859,370 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6866:Tmem45a2
|
UTSW |
16 |
56,867,386 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9055:Tmem45a2
|
UTSW |
16 |
56,861,115 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9286:Tmem45a2
|
UTSW |
16 |
56,867,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation