Incidental Mutation 'R7386:Tpm1'
| ID |
573100 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpm1
|
| Ensembl Gene |
ENSMUSG00000032366 |
| Gene Name |
tropomyosin 1, alpha |
| Synonyms |
TM2, Tpm-1, alpha-TM, Tm3 |
| MMRRC Submission |
045468-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66929872-66956688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66935449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 284
(I284M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109315
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030185]
[ENSMUST00000034928]
[ENSMUST00000050905]
[ENSMUST00000113684]
[ENSMUST00000113685]
[ENSMUST00000113686]
[ENSMUST00000113687]
[ENSMUST00000113689]
[ENSMUST00000113690]
[ENSMUST00000113693]
[ENSMUST00000113695]
[ENSMUST00000113696]
[ENSMUST00000113697]
[ENSMUST00000113701]
[ENSMUST00000113705]
[ENSMUST00000113707]
[ENSMUST00000129733]
[ENSMUST00000139046]
|
| 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 null
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
AA Change: I284M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000051888
Gene: ENSMUSG00000032366
AA Change: I284M
| 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
AA Change: I248M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109314
Gene: ENSMUSG00000032366
AA Change: I248M
| 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
AA Change: I284M
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366
AA Change: I284M
| 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
AA Change: D222G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000109316
Gene: ENSMUSG00000032366
AA Change: D222G
| 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
AA Change: D258G
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366
AA Change: D258G
| 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 null
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 null
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 null
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 |
probably null
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 null
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 null
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 null
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 null
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 null
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: 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: ENSMUST00000139046
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (66/66) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,208 (GRCm39) |
M2K |
unknown |
Het |
| Ablim3 |
T |
C |
18: 61,955,065 (GRCm39) |
D308G |
probably damaging |
Het |
| Adamts17 |
A |
T |
7: 66,618,597 (GRCm39) |
K370N |
probably benign |
Het |
| Adcy4 |
T |
C |
14: 56,015,784 (GRCm39) |
Y435C |
probably damaging |
Het |
| Adgb |
A |
T |
10: 10,253,693 (GRCm39) |
F1216I |
possibly damaging |
Het |
| Akr1a1 |
G |
A |
4: 116,498,251 (GRCm39) |
T98I |
probably damaging |
Het |
| Alyref2 |
G |
T |
1: 171,331,101 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,658,079 (GRCm39) |
H168Q |
unknown |
Het |
| Bnc1 |
A |
C |
7: 81,624,240 (GRCm39) |
L329R |
possibly damaging |
Het |
| Btaf1 |
G |
A |
19: 36,935,782 (GRCm39) |
A191T |
probably benign |
Het |
| Carmil3 |
T |
G |
14: 55,735,204 (GRCm39) |
|
probably null |
Het |
| Cd200r1 |
C |
A |
16: 44,610,211 (GRCm39) |
D143E |
probably benign |
Het |
| Cep112 |
A |
G |
11: 108,699,507 (GRCm39) |
H98R |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,205,831 (GRCm39) |
Q3346L |
probably damaging |
Het |
| Cpne4 |
T |
A |
9: 104,749,939 (GRCm39) |
V81E |
possibly damaging |
Het |
| Ctnnd2 |
T |
A |
15: 30,966,914 (GRCm39) |
M955K |
probably damaging |
Het |
| Ctsj |
A |
T |
13: 61,148,373 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ddhd2 |
G |
T |
8: 26,244,318 (GRCm39) |
R103S |
possibly damaging |
Het |
| Depdc5 |
A |
G |
5: 33,085,280 (GRCm39) |
T700A |
probably benign |
Het |
| Dhx57 |
A |
C |
17: 80,575,006 (GRCm39) |
D657E |
possibly damaging |
Het |
| Dmbt1 |
G |
A |
7: 130,713,965 (GRCm39) |
G1678S |
unknown |
Het |
| Dnajb1 |
A |
G |
8: 84,336,932 (GRCm39) |
D234G |
probably benign |
Het |
| Dsc2 |
C |
T |
18: 20,174,983 (GRCm39) |
V431M |
possibly damaging |
Het |
| Evi5 |
C |
A |
5: 107,957,689 (GRCm39) |
|
probably null |
Het |
| Exoc2 |
T |
C |
13: 31,090,646 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
T |
C |
10: 42,073,356 (GRCm39) |
D387G |
probably benign |
Het |
| Gda |
A |
G |
19: 21,387,250 (GRCm39) |
I325T |
probably benign |
Het |
| Iqgap1 |
A |
G |
7: 80,375,790 (GRCm39) |
S1362P |
probably damaging |
Het |
| Klf10 |
G |
T |
15: 38,297,193 (GRCm39) |
N282K |
possibly damaging |
Het |
| Mettl13 |
A |
G |
1: 162,375,723 (GRCm39) |
Y35H |
probably damaging |
Het |
| Mill2 |
A |
G |
7: 18,592,215 (GRCm39) |
T279A |
probably benign |
Het |
| Ncaph2 |
G |
A |
15: 89,254,459 (GRCm39) |
W386* |
probably null |
Het |
| Nploc4 |
A |
T |
11: 120,299,707 (GRCm39) |
S338T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,775 (GRCm39) |
S261G |
probably damaging |
Het |
| Or2y16 |
T |
C |
11: 49,335,227 (GRCm39) |
F183S |
possibly damaging |
Het |
| Or5al1 |
A |
G |
2: 85,989,874 (GRCm39) |
V280A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,677 (GRCm39) |
M1K |
probably null |
Het |
| Palld |
A |
G |
8: 61,985,086 (GRCm39) |
F1060L |
unknown |
Het |
| Pfas |
C |
G |
11: 68,894,600 (GRCm39) |
V22L |
probably benign |
Het |
| Pygo2 |
T |
G |
3: 89,340,128 (GRCm39) |
F175L |
probably benign |
Het |
| Rnf2 |
T |
C |
1: 151,347,131 (GRCm39) |
E316G |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,657,772 (GRCm39) |
M642K |
probably damaging |
Het |
| Saa3 |
A |
G |
7: 46,364,347 (GRCm39) |
C60R |
unknown |
Het |
| Saxo5 |
A |
G |
8: 3,537,079 (GRCm39) |
K475R |
probably benign |
Het |
| Scap |
A |
G |
9: 110,202,237 (GRCm39) |
T202A |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,370,894 (GRCm39) |
D562V |
probably damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,010 (GRCm39) |
V163E |
possibly damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,539 (GRCm39) |
H850Y |
possibly damaging |
Het |
| Spef1l |
A |
T |
7: 139,555,965 (GRCm39) |
C225* |
probably null |
Het |
| Sqle |
G |
A |
15: 59,202,603 (GRCm39) |
R519Q |
probably benign |
Het |
| Sulf1 |
T |
C |
1: 12,908,585 (GRCm39) |
Y533H |
probably benign |
Het |
| Thbs2 |
A |
G |
17: 14,893,412 (GRCm39) |
S923P |
possibly damaging |
Het |
| Themis |
A |
G |
10: 28,665,743 (GRCm39) |
D602G |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,640,990 (GRCm39) |
K1054E |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
T |
A |
11: 117,612,780 (GRCm39) |
C313S |
probably benign |
Het |
| Top6bl |
G |
A |
19: 4,713,586 (GRCm39) |
R285* |
probably null |
Het |
| Trpm4 |
A |
T |
7: 44,964,064 (GRCm39) |
L722H |
possibly damaging |
Het |
| Trub2 |
T |
G |
2: 29,676,607 (GRCm39) |
Q41P |
probably benign |
Het |
| Usp17le |
A |
C |
7: 104,417,514 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
G |
A |
6: 47,835,884 (GRCm39) |
V148I |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,981 (GRCm39) |
E202G |
probably damaging |
Het |
| Zfp618 |
T |
A |
4: 63,013,622 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
T |
A |
7: 6,308,949 (GRCm39) |
I539N |
possibly damaging |
Het |
| Zfp738 |
A |
T |
13: 67,818,369 (GRCm39) |
C541S |
probably damaging |
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 |
|
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 |
|
|
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'- GACCTGGCTTAAGCTTTGTTC -3'
Sequencing Primer
(F):5'- GGCGAATTGCTTCTGTACAATAG -3'
(R):5'- ATGTTTATGACTCTGCCTCAGG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation