Incidental Mutation 'R6556:Tpm1'
| ID |
522177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpm1
|
| Ensembl Gene |
ENSMUSG00000032366 |
| Gene Name |
tropomyosin 1, alpha |
| Synonyms |
TM2, Tpm-1, alpha-TM, Tm3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
66929872-66956688 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 66935451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030185]
[ENSMUST00000034928]
[ENSMUST00000050905]
[ENSMUST00000113684]
[ENSMUST00000113685]
[ENSMUST00000113686]
[ENSMUST00000113687]
[ENSMUST00000113701]
[ENSMUST00000139046]
[ENSMUST00000113696]
[ENSMUST00000129733]
[ENSMUST00000113689]
[ENSMUST00000113690]
[ENSMUST00000113697]
[ENSMUST00000113707]
[ENSMUST00000113695]
[ENSMUST00000113705]
[ENSMUST00000113693]
|
| 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 null
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 null
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 null
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 null
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 null
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: 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 |
|
| 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: 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 |
noncoding transcript
Transcript: ENSMUST00000156899
|
| 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: 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000129466
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosb |
C |
T |
4: 43,033,896 (GRCm39) |
R460H |
probably damaging |
Het |
| Atp2a1 |
G |
T |
7: 126,049,434 (GRCm39) |
P536Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,123,585 (GRCm39) |
D114V |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 72,924,696 (GRCm39) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 119,694,926 (GRCm39) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,063,354 (GRCm39) |
D255G |
possibly damaging |
Het |
| Dennd5b |
A |
C |
6: 148,915,749 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
G |
10: 128,650,500 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,318 (GRCm39) |
F593S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,899,077 (GRCm39) |
N4343S |
probably null |
Het |
| Erbb2 |
G |
A |
11: 98,326,908 (GRCm39) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,590,321 (GRCm39) |
M794V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,707,838 (GRCm39) |
|
probably null |
Het |
| Gm20730 |
C |
T |
6: 43,058,476 (GRCm39) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,458,089 (GRCm39) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,500,515 (GRCm39) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,706,092 (GRCm39) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,240,851 (GRCm39) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,443 (GRCm39) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,708,589 (GRCm39) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,593,779 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,618,341 (GRCm39) |
V524D |
probably benign |
Het |
| Ndufb11b |
A |
G |
15: 81,864,939 (GRCm39) |
D60G |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,517 (GRCm39) |
F260Y |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,438 (GRCm39) |
Y55H |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,320 (GRCm39) |
I86V |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,569,367 (GRCm39) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,034,410 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 35,080,015 (GRCm39) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,366 (GRCm39) |
N524K |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,165 (GRCm39) |
F845I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,360,480 (GRCm39) |
D74G |
probably damaging |
Het |
| Semp2l2a |
G |
A |
8: 13,887,690 (GRCm39) |
Q134* |
probably null |
Het |
| Serinc2 |
T |
A |
4: 130,152,064 (GRCm39) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,232,549 (GRCm39) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,553 (GRCm39) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,260,478 (GRCm39) |
D367V |
possibly damaging |
Het |
| Tasor |
T |
G |
14: 27,151,215 (GRCm39) |
Y64D |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,512,576 (GRCm39) |
E110G |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,994,105 (GRCm39) |
V412A |
probably benign |
Het |
| Uox |
G |
C |
3: 146,330,403 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,681,870 (GRCm39) |
Y107H |
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 |
|
|
R3724: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 |
|
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'- TGGGCGAATTGCTTCTGTAC -3'
(R):5'- GGACCTGGCTTAAGCTTTGTTC -3'
Sequencing Primer
(F):5'- GGCGAATTGCTTCTGTACAATAG -3'
(R):5'- ATGTTTATGACTCTGCCTCAGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation