Incidental Mutation 'R5726:Tpm1'
ID |
452495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tpm1
|
Ensembl Gene |
ENSMUSG00000032366 |
Gene Name |
tropomyosin 1, alpha |
Synonyms |
TM2, Tpm-1, alpha-TM, Tm3 |
MMRRC Submission |
043344-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5726 (G1)
|
Quality Score |
144 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
66929872-66956688 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 66930694 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 310
(L310F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034928]
[ENSMUST00000050905]
[ENSMUST00000113684]
[ENSMUST00000113685]
[ENSMUST00000113686]
[ENSMUST00000113687]
[ENSMUST00000113697]
[ENSMUST00000113695]
[ENSMUST00000113696]
[ENSMUST00000113701]
[ENSMUST00000113705]
[ENSMUST00000113707]
[ENSMUST00000113693]
[ENSMUST00000129733]
[ENSMUST00000139046]
[ENSMUST00000113689]
[ENSMUST00000113690]
|
AlphaFold |
P58771 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034928
AA Change: L310F
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034928 Gene: ENSMUSG00000032366 AA Change: L310F
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 |
possibly damaging
Transcript: ENSMUST00000113697
AA Change: L268F
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109327 Gene: ENSMUSG00000032366 AA Change: L268F
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: L232F
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109325 Gene: ENSMUSG00000032366 AA Change: L232F
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: ENSMUST00000113696
AA Change: L232F
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109326 Gene: ENSMUSG00000032366 AA Change: L232F
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 |
possibly damaging
Transcript: ENSMUST00000113701
AA Change: L268F
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109331 Gene: ENSMUSG00000032366 AA Change: L268F
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 |
possibly damaging
Transcript: ENSMUST00000113705
AA Change: L268F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000109335 Gene: ENSMUSG00000032366 AA Change: L268F
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 |
possibly damaging
Transcript: ENSMUST00000113707
AA Change: L268F
PolyPhen 2
Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000109337 Gene: ENSMUSG00000032366 AA Change: L268F
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: 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 |
|
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 |
|
Meta Mutation Damage Score |
0.1189 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (72/72) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,835,832 (GRCm39) |
K254E |
probably damaging |
Het |
Aak1 |
C |
T |
6: 86,902,106 (GRCm39) |
Q92* |
probably null |
Het |
Acss3 |
T |
C |
10: 106,959,183 (GRCm39) |
T88A |
possibly damaging |
Het |
Adcy4 |
A |
T |
14: 56,021,118 (GRCm39) |
S6R |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,348,170 (GRCm39) |
E311G |
possibly damaging |
Het |
Arhgap25 |
C |
T |
6: 87,440,441 (GRCm39) |
S402N |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,643,522 (GRCm39) |
D309V |
probably damaging |
Het |
Cdh23 |
C |
T |
10: 60,243,259 (GRCm39) |
V1037M |
probably damaging |
Het |
Clcn2 |
T |
C |
16: 20,529,285 (GRCm39) |
|
probably benign |
Het |
Cln3 |
T |
C |
7: 126,174,673 (GRCm39) |
T276A |
probably null |
Het |
CN725425 |
A |
G |
15: 91,144,706 (GRCm39) |
E523G |
possibly damaging |
Het |
Crppa |
T |
C |
12: 36,597,829 (GRCm39) |
V320A |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,188 (GRCm39) |
T308S |
probably damaging |
Het |
Dgkh |
G |
T |
14: 78,862,342 (GRCm39) |
F208L |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,273,613 (GRCm39) |
D846G |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,635,828 (GRCm39) |
|
probably null |
Het |
Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
Fxr2 |
T |
C |
11: 69,524,172 (GRCm39) |
V10A |
probably benign |
Het |
Gm10271 |
T |
C |
10: 116,792,792 (GRCm39) |
|
probably null |
Het |
Gsk3b |
T |
C |
16: 38,028,498 (GRCm39) |
|
probably benign |
Het |
Ift43 |
T |
A |
12: 86,208,957 (GRCm39) |
D169E |
probably damaging |
Het |
Ift57 |
T |
A |
16: 49,519,861 (GRCm39) |
L54H |
probably damaging |
Het |
Ighv1-37 |
T |
C |
12: 114,860,294 (GRCm39) |
|
probably benign |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,339,491 (GRCm39) |
D1140G |
probably damaging |
Het |
Map1a |
G |
A |
2: 121,135,546 (GRCm39) |
A1883T |
probably damaging |
Het |
Map4k2 |
G |
T |
19: 6,401,362 (GRCm39) |
G611C |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,359,692 (GRCm39) |
|
probably benign |
Het |
Myh14 |
A |
G |
7: 44,292,886 (GRCm39) |
|
probably null |
Het |
Myh8 |
T |
A |
11: 67,185,392 (GRCm39) |
V881D |
possibly damaging |
Het |
Myo1g |
G |
T |
11: 6,459,420 (GRCm39) |
Q817K |
probably benign |
Het |
Nin |
A |
C |
12: 70,124,953 (GRCm39) |
V123G |
probably damaging |
Het |
Nup160 |
A |
G |
2: 90,548,195 (GRCm39) |
D976G |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,036,514 (GRCm39) |
|
probably null |
Het |
Or5an1c |
A |
G |
19: 12,218,644 (GRCm39) |
I127T |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,933,537 (GRCm39) |
|
probably benign |
Het |
Podxl2 |
T |
C |
6: 88,825,721 (GRCm39) |
D400G |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,237,916 (GRCm39) |
W707* |
probably null |
Het |
Rnf19b |
T |
C |
4: 128,965,685 (GRCm39) |
V261A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,307,284 (GRCm39) |
Y648C |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,742,626 (GRCm39) |
L761P |
probably damaging |
Het |
Shroom3 |
C |
T |
5: 93,090,864 (GRCm39) |
P1124S |
probably benign |
Het |
Sirt4 |
A |
G |
5: 115,617,705 (GRCm39) |
V317A |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,266,466 (GRCm39) |
Y238H |
probably damaging |
Het |
Slc12a2 |
G |
T |
18: 58,029,426 (GRCm39) |
A271S |
probably benign |
Het |
Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
Snap23 |
T |
A |
2: 120,414,752 (GRCm39) |
|
probably benign |
Het |
Sra1 |
C |
T |
18: 36,803,226 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
C |
T |
17: 86,428,157 (GRCm39) |
D359N |
possibly damaging |
Het |
Srp19 |
A |
G |
18: 34,464,826 (GRCm39) |
Y22C |
probably damaging |
Het |
Sstr4 |
T |
C |
2: 148,238,003 (GRCm39) |
S205P |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,773,962 (GRCm39) |
D503G |
possibly damaging |
Het |
Tbc1d30 |
C |
T |
10: 121,103,479 (GRCm39) |
V518M |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,758,652 (GRCm39) |
K482E |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,830,981 (GRCm39) |
Y1282C |
probably damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,742,757 (GRCm39) |
L65* |
probably null |
Het |
Ttc39c |
C |
A |
18: 12,830,992 (GRCm39) |
A284D |
probably damaging |
Het |
Txndc16 |
G |
A |
14: 45,403,221 (GRCm39) |
H297Y |
probably benign |
Het |
Utrn |
A |
T |
10: 12,545,550 (GRCm39) |
D1698E |
probably benign |
Het |
Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,365,486 (GRCm39) |
D529E |
possibly damaging |
Het |
Vmn2r70 |
C |
T |
7: 85,208,315 (GRCm39) |
V721I |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,276,119 (GRCm39) |
H484R |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,269 (GRCm39) |
S1187R |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,468,381 (GRCm39) |
D2846E |
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 |
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'- GCAGATGTTTCAGTGACAGTGG -3'
(R):5'- TGCACTTTACGTCAGGGTGG -3'
Sequencing Primer
(F):5'- TGTTTCAGTGACAGTGGTAAAAG -3'
(R):5'- ACGTCAGGGTGGGTTGCAG -3'
|
Posted On |
2017-01-03 |