Incidental Mutation 'R3834:Tmem145'
| ID |
275541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem145
|
| Ensembl Gene |
ENSMUSG00000043843 |
| Gene Name |
transmembrane protein 145 |
| Synonyms |
B930076A02Rik |
| MMRRC Submission |
040889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R3834 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
25005531-25015620 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25010786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 359
(F359L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112676
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108409]
[ENSMUST00000119703]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108409
AA Change: F373L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104046
Gene: ENSMUSG00000043843
AA Change: F373L
| 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: F359L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112676
Gene: ENSMUSG00000043843
AA Change: F359L
| 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 |
noncoding transcript
Transcript: ENSMUST00000140016
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205639
|
| Meta Mutation Damage Score |
0.8838 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,964,683 (GRCm39) |
T1389A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,636,985 (GRCm39) |
|
probably benign |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Coq5 |
G |
T |
5: 115,422,635 (GRCm39) |
G180W |
probably damaging |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,947 (GRCm39) |
|
probably null |
Het |
| Cyp2j13 |
C |
T |
4: 95,944,794 (GRCm39) |
|
probably null |
Het |
| Fam114a1 |
C |
T |
5: 65,163,416 (GRCm39) |
T197I |
possibly damaging |
Het |
| Fbxo44 |
A |
G |
4: 148,240,707 (GRCm39) |
Y227H |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,161 (GRCm39) |
H486L |
possibly damaging |
Het |
| Grik4 |
T |
C |
9: 42,540,419 (GRCm39) |
R254G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,304,380 (GRCm39) |
I47T |
possibly damaging |
Het |
| Kif20b |
A |
G |
19: 34,912,428 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lbhd1 |
G |
A |
19: 8,861,421 (GRCm39) |
C43Y |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,886,816 (GRCm39) |
D201E |
probably damaging |
Het |
| Map1a |
G |
A |
2: 121,137,803 (GRCm39) |
G2635D |
probably damaging |
Het |
| Ms4a4a |
A |
T |
19: 11,356,219 (GRCm39) |
M35L |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Mug2 |
T |
C |
6: 122,026,746 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
A |
7: 49,195,606 (GRCm39) |
I994N |
possibly damaging |
Het |
| Ngly1 |
T |
C |
14: 16,290,766 (GRCm38) |
|
probably benign |
Het |
| Nr1i2 |
T |
C |
16: 38,074,291 (GRCm39) |
|
probably null |
Het |
| Or51f5 |
A |
G |
7: 102,424,493 (GRCm39) |
Y254C |
probably damaging |
Het |
| Or52h9 |
T |
A |
7: 104,202,552 (GRCm39) |
V142D |
probably benign |
Het |
| Or5p69 |
A |
T |
7: 107,967,279 (GRCm39) |
D194V |
probably damaging |
Het |
| Oxct2a |
C |
T |
4: 123,216,266 (GRCm39) |
V372I |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Pramel14 |
T |
A |
4: 143,720,796 (GRCm39) |
K48N |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,011,305 (GRCm39) |
N584I |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Rps20 |
A |
T |
4: 3,834,610 (GRCm39) |
I84N |
probably damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,156 (GRCm39) |
Y313C |
probably damaging |
Het |
| Sertad2 |
T |
C |
11: 20,598,482 (GRCm39) |
I226T |
probably benign |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Slco1a1 |
G |
T |
6: 141,889,163 (GRCm39) |
Q50K |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,785,776 (GRCm39) |
I622N |
possibly damaging |
Het |
| Tmc4 |
C |
T |
7: 3,675,006 (GRCm39) |
V222M |
probably benign |
Het |
| Tmem238 |
C |
A |
7: 4,792,078 (GRCm39) |
R155L |
possibly damaging |
Het |
| Vmn1r32 |
C |
A |
6: 66,530,647 (GRCm39) |
C43F |
probably benign |
Het |
| Vmn2r104 |
C |
T |
17: 20,250,183 (GRCm39) |
R696K |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGCAGAGTTAAATTCAGCC -3'
(R):5'- GAGGGCAACACATTCAAGC -3'
Sequencing Primer
(F):5'- GAGCAGAGTTAAATTCAGCCCAGTC -3'
(R):5'- GAGGGCAACACATTCAAGCACATAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation