Incidental Mutation 'IGL00926:Tmem145'
| ID |
27817 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem145
|
| Ensembl Gene |
ENSMUSG00000043843 |
| Gene Name |
transmembrane protein 145 |
| Synonyms |
B930076A02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL00926
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25005531-25015620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25014155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 423
(N423S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108409]
[ENSMUST00000119703]
[ENSMUST00000128119]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108409
AA Change: N423S
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: N423S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:GpcrRhopsn4
|
157 |
411 |
7.5e-81 |
PFAM |
|
low complexity region
|
486 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
516 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119703
AA Change: N409S
PolyPhen 2
Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: N409S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
Pfam:GpcrRhopsn4
|
143 |
397 |
4.3e-81 |
PFAM |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128119
|
| SMART Domains |
Protein: ENSMUSP00000122192
Gene: ENSMUSG00000045039
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
|
CUB
|
33 |
140 |
1.24e-15 |
SMART |
|
EGF
|
141 |
170 |
4.26e0 |
SMART |
|
EGF
|
173 |
203 |
2.43e1 |
SMART |
|
Pfam:Kelch_4
|
227 |
277 |
1.3e-11 |
PFAM |
|
Pfam:Kelch_3
|
240 |
287 |
1.6e-7 |
PFAM |
|
low complexity region
|
320 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
738 |
N/A |
INTRINSIC |
|
PSI
|
847 |
899 |
1.37e0 |
SMART |
|
low complexity region
|
932 |
938 |
N/A |
INTRINSIC |
|
PSI
|
949 |
991 |
2.11e-2 |
SMART |
|
PSI
|
1005 |
1073 |
7.82e-1 |
SMART |
|
EGF_CA
|
1074 |
1115 |
2.62e-9 |
SMART |
|
EGF
|
1117 |
1160 |
5.4e-2 |
SMART |
|
EGF_like
|
1163 |
1208 |
4e-1 |
SMART |
|
EGF_Lam
|
1211 |
1259 |
1.03e-7 |
SMART |
|
Blast:CUB
|
1263 |
1401 |
1e-30 |
BLAST |
|
EGF_like
|
1406 |
1445 |
3.29e1 |
SMART |
|
Pfam:Kelch_4
|
1509 |
1564 |
6.5e-12 |
PFAM |
|
Pfam:Kelch_3
|
1520 |
1574 |
1.2e-10 |
PFAM |
|
PSI
|
1868 |
1923 |
2.75e-1 |
SMART |
|
PSI
|
2004 |
2062 |
1.6e0 |
SMART |
|
PSI
|
2064 |
2121 |
1.68e-5 |
SMART |
|
EGF
|
2125 |
2164 |
1.08e-1 |
SMART |
|
EGF
|
2166 |
2194 |
4.26e0 |
SMART |
|
EGF
|
2204 |
2244 |
2.2e1 |
SMART |
|
EGF_like
|
2248 |
2321 |
6.37e-1 |
SMART |
|
low complexity region
|
2493 |
2504 |
N/A |
INTRINSIC |
|
low complexity region
|
2530 |
2541 |
N/A |
INTRINSIC |
|
transmembrane domain
|
2592 |
2614 |
N/A |
INTRINSIC |
|
low complexity region
|
2649 |
2668 |
N/A |
INTRINSIC |
|
low complexity region
|
2674 |
2702 |
N/A |
INTRINSIC |
|
low complexity region
|
2759 |
2774 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205639
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
| Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
| Cavin2 |
A |
G |
1: 51,340,036 (GRCm39) |
K238E |
probably damaging |
Het |
| Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
| Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
| Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
| Clec4a1 |
T |
A |
6: 122,899,014 (GRCm39) |
C28S |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
| Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
| Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
T |
A |
4: 116,444,710 (GRCm39) |
|
probably null |
Het |
| Helq |
T |
C |
5: 100,912,948 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
| Mettl18 |
T |
A |
1: 163,823,795 (GRCm39) |
S39T |
possibly damaging |
Het |
| Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
| Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
| Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
| Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
| Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
| Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
| Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
| Trmt13 |
G |
A |
3: 116,383,884 (GRCm39) |
Q58* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
| Other mutations in Tmem145 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00958:Tmem145
|
APN |
7 |
25,006,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01347:Tmem145
|
APN |
7 |
25,014,260 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01936:Tmem145
|
APN |
7 |
25,010,816 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02526:Tmem145
|
APN |
7 |
25,007,657 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02686:Tmem145
|
APN |
7 |
25,014,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Tmem145
|
APN |
7 |
25,014,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Tmem145
|
UTSW |
7 |
25,007,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0180:Tmem145
|
UTSW |
7 |
25,014,124 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0329:Tmem145
|
UTSW |
7 |
25,008,099 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Tmem145
|
UTSW |
7 |
25,010,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1488:Tmem145
|
UTSW |
7 |
25,006,860 (GRCm39) |
splice site |
probably null |
|
|
R1681:Tmem145
|
UTSW |
7 |
25,014,159 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2352:Tmem145
|
UTSW |
7 |
25,005,598 (GRCm39) |
missense |
probably benign |
|
|
R3834:Tmem145
|
UTSW |
7 |
25,010,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4175:Tmem145
|
UTSW |
7 |
25,008,218 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4414:Tmem145
|
UTSW |
7 |
25,006,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4485:Tmem145
|
UTSW |
7 |
25,006,587 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4631:Tmem145
|
UTSW |
7 |
25,007,250 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4983:Tmem145
|
UTSW |
7 |
25,008,027 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4999:Tmem145
|
UTSW |
7 |
25,008,459 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5772:Tmem145
|
UTSW |
7 |
25,015,039 (GRCm39) |
missense |
probably benign |
0.21 |
|
R5821:Tmem145
|
UTSW |
7 |
25,014,946 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5909:Tmem145
|
UTSW |
7 |
25,007,618 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6021:Tmem145
|
UTSW |
7 |
25,008,270 (GRCm39) |
splice site |
probably null |
|
|
R6430:Tmem145
|
UTSW |
7 |
25,008,463 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6768:Tmem145
|
UTSW |
7 |
25,008,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6778:Tmem145
|
UTSW |
7 |
25,010,801 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7428:Tmem145
|
UTSW |
7 |
25,006,590 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7536:Tmem145
|
UTSW |
7 |
25,007,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Tmem145
|
UTSW |
7 |
25,006,753 (GRCm39) |
nonsense |
probably null |
|
|
R7826:Tmem145
|
UTSW |
7 |
25,006,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Tmem145
|
UTSW |
7 |
25,006,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8441:Tmem145
|
UTSW |
7 |
25,008,200 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9129:Tmem145
|
UTSW |
7 |
25,014,265 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9277:Tmem145
|
UTSW |
7 |
25,009,165 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9297:Tmem145
|
UTSW |
7 |
25,008,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmem145
|
UTSW |
7 |
25,009,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-04-17 |
Incidental Mutation