Incidental Mutation 'IGL03182:Tmem145'
| ID |
412304 |
| 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 # |
IGL03182
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
25005531-25015620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 25014304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 459
(F459I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108409]
[ENSMUST00000119703]
[ENSMUST00000128119]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108409
AA Change: F473I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: F473I
| 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 |
probably damaging
Transcript: ENSMUST00000119703
AA Change: F459I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: F459I
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
T |
6: 34,780,435 (GRCm39) |
K469N |
probably damaging |
Het |
| Aldh2 |
A |
G |
5: 121,718,787 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
T |
C |
11: 72,619,580 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,827 (GRCm39) |
T209I |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,205,046 (GRCm39) |
V754I |
probably benign |
Het |
| Arfgef3 |
C |
T |
10: 18,476,292 (GRCm39) |
R1509H |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,101,832 (GRCm39) |
S30P |
probably damaging |
Het |
| Cept1 |
T |
A |
3: 106,411,866 (GRCm39) |
E369D |
probably damaging |
Het |
| Clcnka |
T |
C |
4: 141,121,798 (GRCm39) |
Y236C |
probably damaging |
Het |
| Ddx42 |
A |
T |
11: 106,138,353 (GRCm39) |
L717F |
probably benign |
Het |
| Dnah11 |
A |
T |
12: 117,994,026 (GRCm39) |
I2340N |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,787,868 (GRCm39) |
E889G |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,703,552 (GRCm39) |
Y1560C |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,699,225 (GRCm39) |
M623K |
possibly damaging |
Het |
| Gm21970 |
T |
A |
16: 91,190,726 (GRCm39) |
S110T |
possibly damaging |
Het |
| Gm826 |
T |
A |
2: 160,169,035 (GRCm39) |
R91S |
unknown |
Het |
| Lrrn3 |
A |
G |
12: 41,504,020 (GRCm39) |
L99S |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,773 (GRCm39) |
M1552K |
possibly damaging |
Het |
| Mgll |
G |
T |
6: 88,800,173 (GRCm39) |
V191F |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,523,698 (GRCm39) |
N50S |
possibly damaging |
Het |
| Nol8 |
C |
A |
13: 49,817,557 (GRCm39) |
H778N |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,268 (GRCm39) |
T99S |
probably benign |
Het |
| Or5b116 |
A |
C |
19: 13,422,807 (GRCm39) |
T144P |
possibly damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,277 (GRCm39) |
M211K |
probably benign |
Het |
| Or8k40 |
A |
T |
2: 86,584,366 (GRCm39) |
S239T |
probably damaging |
Het |
| Pfkfb3 |
A |
T |
2: 11,506,474 (GRCm39) |
I13N |
probably damaging |
Het |
| Pim1 |
T |
A |
17: 29,710,740 (GRCm39) |
D114E |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,792,792 (GRCm39) |
L1493P |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,502,259 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
A |
T |
3: 63,610,015 (GRCm39) |
Y872* |
probably null |
Het |
| Rictor |
A |
G |
15: 6,819,079 (GRCm39) |
D1434G |
probably benign |
Het |
| Rptor |
G |
A |
11: 119,615,971 (GRCm39) |
G162R |
probably damaging |
Het |
| Serping1 |
T |
C |
2: 84,596,162 (GRCm39) |
D424G |
probably damaging |
Het |
| Slit2 |
A |
G |
5: 48,377,395 (GRCm39) |
I475V |
possibly damaging |
Het |
| Snx31 |
G |
T |
15: 36,525,833 (GRCm39) |
Q289K |
probably benign |
Het |
| Tbc1d13 |
G |
A |
2: 30,037,379 (GRCm39) |
A254T |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,740,002 (GRCm39) |
I750T |
probably damaging |
Het |
| Tet2 |
A |
T |
3: 133,177,159 (GRCm39) |
L1296* |
probably null |
Het |
| Uba5 |
A |
T |
9: 103,931,328 (GRCm39) |
V247D |
possibly damaging |
Het |
| Vmn1r83 |
T |
C |
7: 12,055,617 (GRCm39) |
M147V |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,187,138 (GRCm39) |
D783G |
probably damaging |
Het |
| Zfp609 |
A |
G |
9: 65,608,287 (GRCm39) |
S1198P |
probably benign |
Het |
|
| Other mutations in Tmem145 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Tmem145
|
APN |
7 |
25,014,155 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation