Incidental Mutation 'R3724:Tpm1'
| ID |
270686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpm1
|
| Ensembl Gene |
ENSMUSG00000032366 |
| Gene Name |
tropomyosin 1, alpha |
| Synonyms |
TM2, Tpm-1, alpha-TM, Tm3 |
| MMRRC Submission |
040715-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66929872-66956688 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 66939227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030185]
[ENSMUST00000034928]
[ENSMUST00000050905]
[ENSMUST00000113684]
[ENSMUST00000113685]
[ENSMUST00000113686]
[ENSMUST00000113687]
[ENSMUST00000113695]
[ENSMUST00000113705]
[ENSMUST00000113707]
[ENSMUST00000113690]
[ENSMUST00000113693]
[ENSMUST00000129733]
[ENSMUST00000113697]
[ENSMUST00000139046]
[ENSMUST00000113696]
[ENSMUST00000113689]
[ENSMUST00000113701]
|
| AlphaFold |
P58771 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030185
|
| SMART Domains |
Protein: ENSMUSP00000030185
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
1.7e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
1.7e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034928
|
| SMART Domains |
Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
35 |
N/A |
INTRINSIC |
|
Pfam:Tropomyosin_1
|
56 |
195 |
4.1e-29 |
PFAM |
|
Pfam:Tropomyosin
|
90 |
326 |
5.9e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050905
|
| SMART Domains |
Protein: ENSMUSP00000051888
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
2.2e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
5.1e-98 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113684
|
| SMART Domains |
Protein: ENSMUSP00000109314
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
3 |
117 |
1.4e-22 |
PFAM |
|
Pfam:Tropomyosin
|
12 |
248 |
8.1e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113685
|
| SMART Domains |
Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
2.2e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
3.1e-102 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113686
|
| SMART Domains |
Protein: ENSMUSP00000109316
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
4 |
117 |
2.9e-23 |
PFAM |
|
Pfam:Tropomyosin
|
12 |
228 |
8.4e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113687
|
| SMART Domains |
Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
7.4e-40 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
264 |
1.8e-92 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113695
|
| SMART Domains |
Protein: ENSMUSP00000109325
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
4 |
117 |
6.1e-23 |
PFAM |
|
Pfam:Tropomyosin
|
12 |
248 |
1.5e-97 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113705
|
| SMART Domains |
Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
1.9e-31 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
9.5e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113707
|
| SMART Domains |
Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
2.2e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
6.3e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113690
|
| SMART Domains |
Protein: ENSMUSP00000109320
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
4 |
117 |
5.9e-23 |
PFAM |
|
Pfam:Tropomyosin
|
12 |
244 |
8.3e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113693
|
| SMART Domains |
Protein: ENSMUSP00000109323
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
6.1e-37 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
280 |
8.6e-93 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129466
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129733
|
| SMART Domains |
Protein: ENSMUSP00000138784
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
4e-36 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
128 |
7.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113697
|
| SMART Domains |
Protein: ENSMUSP00000109327
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
2.2e-39 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
1.1e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139046
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113696
|
| SMART Domains |
Protein: ENSMUSP00000109326
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
4 |
117 |
6.1e-23 |
PFAM |
|
Pfam:Tropomyosin
|
12 |
248 |
2.5e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113689
|
| SMART Domains |
Protein: ENSMUSP00000109319
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
3 |
117 |
1.4e-22 |
PFAM |
|
Pfam:Tropomyosin
|
12 |
244 |
8.8e-88 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113701
|
| SMART Domains |
Protein: ENSMUSP00000109331
Gene: ENSMUSG00000032366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Tropomyosin_1
|
7 |
153 |
1.9e-31 |
PFAM |
|
Pfam:Tropomyosin
|
48 |
284 |
1.6e-90 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
98% (49/50) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
T |
8: 120,876,099 (GRCm39) |
R133L |
probably damaging |
Het |
| Abhd8 |
G |
A |
8: 71,914,136 (GRCm39) |
A164V |
probably benign |
Het |
| Api5 |
C |
T |
2: 94,255,958 (GRCm39) |
R243Q |
possibly damaging |
Het |
| Atl1 |
A |
G |
12: 70,006,154 (GRCm39) |
T487A |
probably damaging |
Het |
| C2cd6 |
C |
T |
1: 59,105,394 (GRCm39) |
|
probably benign |
Het |
| Ccdc88c |
G |
A |
12: 100,896,783 (GRCm39) |
A1389V |
possibly damaging |
Het |
| Ccna1 |
T |
C |
3: 54,958,353 (GRCm39) |
E110G |
probably damaging |
Het |
| Ccne2 |
T |
C |
4: 11,203,039 (GRCm39) |
C386R |
probably benign |
Het |
| Cfap53 |
A |
G |
18: 74,492,640 (GRCm39) |
I455V |
probably benign |
Het |
| Ctdp1 |
C |
T |
18: 80,502,482 (GRCm39) |
V143I |
probably benign |
Het |
| Cyp11a1 |
A |
T |
9: 57,926,605 (GRCm39) |
M47L |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,270,566 (GRCm39) |
L956P |
probably benign |
Het |
| Enkd1 |
A |
T |
8: 106,430,557 (GRCm39) |
V326E |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,403,180 (GRCm39) |
|
probably benign |
Het |
| Etv5 |
T |
C |
16: 22,254,662 (GRCm39) |
D66G |
probably damaging |
Het |
| Evi5l |
A |
G |
8: 4,228,080 (GRCm39) |
|
probably benign |
Het |
| Foxf2 |
A |
G |
13: 31,814,513 (GRCm39) |
K409R |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,341,900 (GRCm39) |
T1398A |
probably benign |
Het |
| Galm |
A |
G |
17: 80,490,709 (GRCm39) |
T289A |
probably benign |
Het |
| Gtdc1 |
T |
C |
2: 44,646,319 (GRCm39) |
E44G |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,565,269 (GRCm39) |
Y2286F |
possibly damaging |
Het |
| Iars1 |
A |
G |
13: 49,840,860 (GRCm39) |
|
probably null |
Het |
| Ifna5 |
A |
G |
4: 88,754,171 (GRCm39) |
E137G |
probably damaging |
Het |
| Itih4 |
G |
A |
14: 30,614,541 (GRCm39) |
E468K |
possibly damaging |
Het |
| Kat6a |
A |
T |
8: 23,352,804 (GRCm39) |
H196L |
probably damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,912 (GRCm39) |
T167A |
possibly damaging |
Het |
| Klhl29 |
C |
T |
12: 5,140,603 (GRCm39) |
V680I |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,060,089 (GRCm39) |
I72T |
probably benign |
Het |
| Mbd6 |
C |
T |
10: 127,119,760 (GRCm39) |
|
probably benign |
Het |
| Mefv |
A |
G |
16: 3,526,058 (GRCm39) |
|
probably null |
Het |
| Mindy3 |
T |
A |
2: 12,360,165 (GRCm39) |
M6L |
probably damaging |
Het |
| Mrpl9 |
T |
A |
3: 94,355,073 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
A |
T |
7: 23,020,802 (GRCm39) |
T430S |
probably benign |
Het |
| Or4ac1-ps1 |
T |
G |
2: 88,370,630 (GRCm39) |
|
noncoding transcript |
Het |
| Pcdh15 |
A |
T |
10: 74,481,680 (GRCm39) |
T342S |
probably benign |
Het |
| Prkce |
A |
T |
17: 86,476,051 (GRCm39) |
K11* |
probably null |
Het |
| Pros1 |
T |
C |
16: 62,720,692 (GRCm39) |
I117T |
possibly damaging |
Het |
| Prpf38b |
T |
C |
3: 108,811,656 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
T |
C |
8: 61,825,756 (GRCm39) |
S584P |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,414,225 (GRCm39) |
|
probably null |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| Stambp |
C |
T |
6: 83,534,448 (GRCm39) |
E280K |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,730,781 (GRCm39) |
I1329T |
probably damaging |
Het |
| Tex2 |
G |
A |
11: 106,420,156 (GRCm39) |
T869I |
unknown |
Het |
| Tlk2 |
A |
G |
11: 105,138,390 (GRCm39) |
T281A |
probably benign |
Het |
| Trim3 |
A |
G |
7: 105,260,396 (GRCm39) |
F702L |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,282,906 (GRCm39) |
D559G |
probably damaging |
Het |
| Vmn2r20 |
T |
A |
6: 123,362,706 (GRCm39) |
T693S |
probably benign |
Het |
| Zfand2b |
A |
G |
1: 75,146,499 (GRCm39) |
K125E |
possibly damaging |
Het |
| Zfp422 |
C |
T |
6: 116,603,340 (GRCm39) |
A220T |
probably benign |
Het |
| Zfp747 |
A |
T |
7: 126,973,762 (GRCm39) |
V136D |
probably benign |
Het |
|
| Other mutations in Tpm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01287:Tpm1
|
APN |
9 |
66,943,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01288:Tpm1
|
APN |
9 |
66,943,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01569:Tpm1
|
APN |
9 |
66,938,390 (GRCm39) |
splice site |
probably null |
|
|
R1137:Tpm1
|
UTSW |
9 |
66,938,400 (GRCm39) |
splice site |
probably null |
|
|
R1554:Tpm1
|
UTSW |
9 |
66,930,711 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2012:Tpm1
|
UTSW |
9 |
66,941,247 (GRCm39) |
nonsense |
probably null |
|
|
R2898:Tpm1
|
UTSW |
9 |
66,938,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Tpm1
|
UTSW |
9 |
66,939,227 (GRCm39) |
intron |
probably benign |
|
|
R4172:Tpm1
|
UTSW |
9 |
66,930,649 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4427:Tpm1
|
UTSW |
9 |
66,939,847 (GRCm39) |
intron |
probably benign |
|
|
R4934:Tpm1
|
UTSW |
9 |
66,935,331 (GRCm39) |
splice site |
probably null |
|
|
R5605:Tpm1
|
UTSW |
9 |
66,956,317 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5726:Tpm1
|
UTSW |
9 |
66,930,694 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6556:Tpm1
|
UTSW |
9 |
66,935,451 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6910:Tpm1
|
UTSW |
9 |
66,939,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7242:Tpm1
|
UTSW |
9 |
66,935,383 (GRCm39) |
missense |
probably benign |
|
|
R7386:Tpm1
|
UTSW |
9 |
66,935,449 (GRCm39) |
missense |
probably benign |
|
|
R8463:Tpm1
|
UTSW |
9 |
66,955,512 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8755:Tpm1
|
UTSW |
9 |
66,935,371 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9035:Tpm1
|
UTSW |
9 |
66,955,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9294:Tpm1
|
UTSW |
9 |
66,936,998 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGATAACTTATCCACTTGGCAC -3'
(R):5'- GGCTCTAGGACTCCGTTTTC -3'
Sequencing Primer
(F):5'- TTACCCAACCTAAGATACATTCTCTG -3'
(R):5'- CACATTAGCAAATGTGCCG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation