Incidental Mutation 'R1554:Tpm1'
ID |
170157 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpm1
|
Ensembl Gene |
ENSMUSG00000032366 |
Gene Name |
tropomyosin 1, alpha |
Synonyms |
TM2, Tpm-1, alpha-TM, Tm3 |
MMRRC Submission |
039593-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1554 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
66929872-66956688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 66930711 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 262
(H262R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109331
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034928]
[ENSMUST00000050905]
[ENSMUST00000113684]
[ENSMUST00000113685]
[ENSMUST00000113686]
[ENSMUST00000113687]
[ENSMUST00000113697]
[ENSMUST00000113695]
[ENSMUST00000113705]
[ENSMUST00000113701]
[ENSMUST00000113696]
[ENSMUST00000113707]
[ENSMUST00000139046]
[ENSMUST00000113689]
[ENSMUST00000113690]
[ENSMUST00000113693]
[ENSMUST00000129733]
|
AlphaFold |
P58771 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034928
AA Change: H304R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000034928 Gene: ENSMUSG00000032366 AA Change: H304R
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: ENSMUST00000113697
AA Change: H262R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109327 Gene: ENSMUSG00000032366 AA Change: H262R
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: ENSMUST00000113695
AA Change: H226R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109325 Gene: ENSMUSG00000032366 AA Change: H226R
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
AA Change: H262R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109335 Gene: ENSMUSG00000032366 AA Change: H262R
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: ENSMUST00000113701
AA Change: H262R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000109331 Gene: ENSMUSG00000032366 AA Change: H262R
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: ENSMUST00000113696
AA Change: H226R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109326 Gene: ENSMUSG00000032366 AA Change: H226R
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: ENSMUST00000113707
AA Change: H262R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000109337 Gene: ENSMUSG00000032366 AA Change: H262R
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: ENSMUST00000139046
|
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: 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 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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 89.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
T |
A |
19: 31,886,302 (GRCm39) |
D70E |
possibly damaging |
Het |
Adamts7 |
A |
T |
9: 90,055,703 (GRCm39) |
D152V |
probably damaging |
Het |
Api5 |
T |
C |
2: 94,255,988 (GRCm39) |
D233G |
probably benign |
Het |
Btaf1 |
A |
G |
19: 36,973,998 (GRCm39) |
D1390G |
probably benign |
Het |
Cep135 |
G |
A |
5: 76,782,060 (GRCm39) |
W893* |
probably null |
Het |
Cgas |
A |
T |
9: 78,342,838 (GRCm39) |
S321R |
probably damaging |
Het |
Cmtm6 |
T |
A |
9: 114,575,550 (GRCm39) |
V153D |
possibly damaging |
Het |
Dnah11 |
C |
T |
12: 118,046,234 (GRCm39) |
V1735I |
possibly damaging |
Het |
Dnm1l |
T |
C |
16: 16,159,290 (GRCm39) |
N104S |
probably benign |
Het |
Dpyd |
A |
T |
3: 118,858,695 (GRCm39) |
|
probably null |
Het |
Dtx1 |
T |
C |
5: 120,821,386 (GRCm39) |
K387R |
probably damaging |
Het |
Ercc4 |
A |
G |
16: 12,965,486 (GRCm39) |
D706G |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,144,490 (GRCm39) |
N4128S |
probably benign |
Het |
Gm42669 |
T |
A |
5: 107,655,653 (GRCm39) |
C639S |
possibly damaging |
Het |
Grk3 |
T |
A |
5: 113,117,135 (GRCm39) |
I89L |
possibly damaging |
Het |
Grm8 |
A |
T |
6: 28,125,852 (GRCm39) |
D91E |
probably benign |
Het |
Havcr1 |
C |
A |
11: 46,643,334 (GRCm39) |
H85N |
probably benign |
Het |
Il12rb1 |
G |
A |
8: 71,266,016 (GRCm39) |
|
probably null |
Het |
Kif3a |
A |
G |
11: 53,489,154 (GRCm39) |
K117E |
probably damaging |
Het |
Kitl |
T |
A |
10: 99,923,300 (GRCm39) |
F15L |
probably benign |
Het |
Ktn1 |
T |
G |
14: 47,932,964 (GRCm39) |
L706R |
probably damaging |
Het |
Lipg |
T |
C |
18: 75,081,118 (GRCm39) |
Y321C |
probably damaging |
Het |
Mapk8ip3 |
T |
C |
17: 25,122,033 (GRCm39) |
D710G |
probably benign |
Het |
Mchr1 |
A |
G |
15: 81,120,021 (GRCm39) |
N16S |
probably benign |
Het |
Myadml2 |
A |
T |
11: 120,538,553 (GRCm39) |
L94* |
probably null |
Het |
Npr3 |
C |
A |
15: 11,848,649 (GRCm39) |
M439I |
probably benign |
Het |
Obscn |
A |
G |
11: 58,894,474 (GRCm39) |
I6677T |
unknown |
Het |
Ogn |
A |
C |
13: 49,774,520 (GRCm39) |
D221A |
probably benign |
Het |
Or8b40 |
T |
C |
9: 38,027,230 (GRCm39) |
I46T |
probably benign |
Het |
Pard3b |
C |
A |
1: 62,677,053 (GRCm39) |
Q1195K |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,157,785 (GRCm39) |
E608G |
probably benign |
Het |
Pdlim1 |
T |
C |
19: 40,211,516 (GRCm39) |
D259G |
probably benign |
Het |
Per1 |
T |
C |
11: 68,994,453 (GRCm39) |
S526P |
probably damaging |
Het |
Pfkfb2 |
A |
G |
1: 130,634,209 (GRCm39) |
V156A |
probably damaging |
Het |
Ppp4r3a |
A |
T |
12: 101,022,081 (GRCm39) |
D307E |
probably damaging |
Het |
Rims4 |
T |
C |
2: 163,721,042 (GRCm39) |
S70G |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,665 (GRCm39) |
F2625L |
probably benign |
Het |
Sap130 |
T |
C |
18: 31,799,525 (GRCm39) |
L334P |
probably damaging |
Het |
Slc16a10 |
T |
C |
10: 39,952,796 (GRCm39) |
I233V |
probably benign |
Het |
Slc16a7 |
A |
C |
10: 125,066,791 (GRCm39) |
F283V |
possibly damaging |
Het |
Slc25a24 |
T |
C |
3: 109,043,586 (GRCm39) |
M81T |
probably benign |
Het |
Slc30a9 |
A |
G |
5: 67,484,264 (GRCm39) |
R134G |
probably damaging |
Het |
Slc35d3 |
G |
T |
10: 19,726,483 (GRCm39) |
L96M |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,336,345 (GRCm39) |
G333D |
probably damaging |
Het |
Stam |
T |
C |
2: 14,146,639 (GRCm39) |
S446P |
probably benign |
Het |
Stk38 |
T |
A |
17: 29,198,206 (GRCm39) |
N248I |
possibly damaging |
Het |
Tasor2 |
A |
G |
13: 3,626,374 (GRCm39) |
V1192A |
possibly damaging |
Het |
Tle6 |
A |
C |
10: 81,431,219 (GRCm39) |
S221A |
probably benign |
Het |
Tmprss11b |
G |
A |
5: 86,809,490 (GRCm39) |
T334I |
probably benign |
Het |
Tmprss11c |
T |
A |
5: 86,437,119 (GRCm39) |
M1L |
possibly damaging |
Het |
Tspan33 |
T |
C |
6: 29,711,081 (GRCm39) |
S118P |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,019,218 (GRCm39) |
V1068A |
probably damaging |
Het |
Ubr2 |
T |
C |
17: 47,283,877 (GRCm39) |
I591V |
probably benign |
Het |
Utp20 |
A |
T |
10: 88,600,599 (GRCm39) |
Y38* |
probably null |
Het |
Vmn1r217 |
A |
T |
13: 23,298,464 (GRCm39) |
I146N |
possibly damaging |
Het |
Zfp608 |
T |
C |
18: 55,031,126 (GRCm39) |
Y938C |
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 |
|
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 |
|
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'- GGCTTCCTACACTGGCTAAGCAAAC -3'
(R):5'- AGTGGGTGAGCCTTCACCAAAC -3'
Sequencing Primer
(F):5'- CTCTATGAAGGGTGGCAACCTG -3'
(R):5'- CCTGCACTTTACGTCAGGG -3'
|
Posted On |
2014-04-13 |