Incidental Mutation 'R5605:Tpm1'
| ID |
439251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tpm1
|
| Ensembl Gene |
ENSMUSG00000032366 |
| Gene Name |
tropomyosin 1, alpha |
| Synonyms |
TM2, Tpm-1, alpha-TM, Tm3 |
| MMRRC Submission |
043270-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
66929872-66956688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66956317 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 33
(E33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138784
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030185]
[ENSMUST00000034928]
[ENSMUST00000050905]
[ENSMUST00000113685]
[ENSMUST00000113687]
[ENSMUST00000113693]
[ENSMUST00000113697]
[ENSMUST00000113701]
[ENSMUST00000113705]
[ENSMUST00000113707]
[ENSMUST00000129733]
|
| AlphaFold |
P58771 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030185
AA Change: E33G
PolyPhen 2
Score 0.850 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030185
Gene: ENSMUSG00000032366
AA Change: E33G
| 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 |
possibly damaging
Transcript: ENSMUST00000034928
AA Change: E33G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034928
Gene: ENSMUSG00000032366
AA Change: E33G
| 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 |
possibly damaging
Transcript: ENSMUST00000050905
AA Change: E33G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000051888
Gene: ENSMUSG00000032366
AA Change: E33G
| 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: ENSMUST00000113685
AA Change: E33G
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109315
Gene: ENSMUSG00000032366
AA Change: E33G
| 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 |
possibly damaging
Transcript: ENSMUST00000113687
AA Change: E33G
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109317
Gene: ENSMUSG00000032366
AA Change: E33G
| 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: ENSMUST00000113693
AA Change: E33G
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000109323
Gene: ENSMUSG00000032366
AA Change: E33G
| 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 damaging
Transcript: ENSMUST00000113697
AA Change: E33G
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000109327
Gene: ENSMUSG00000032366
AA Change: E33G
| 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 |
noncoding transcript
Transcript: ENSMUST00000131279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113701
AA Change: E33G
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109331
Gene: ENSMUSG00000032366
AA Change: E33G
| 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: E33G
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000109335
Gene: ENSMUSG00000032366
AA Change: E33G
| 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
AA Change: E33G
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000109337
Gene: ENSMUSG00000032366
AA Change: E33G
| 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 damaging
Transcript: ENSMUST00000129733
AA Change: E33G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138784
Gene: ENSMUSG00000032366
AA Change: E33G
| 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: ENSMUST00000129466
|
| Meta Mutation Damage Score |
0.4986 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| Afg3l2 |
C |
A |
18: 67,575,425 (GRCm39) |
G83* |
probably null |
Het |
| Arap2 |
A |
T |
5: 62,772,410 (GRCm39) |
M1476K |
possibly damaging |
Het |
| Catsper2 |
G |
A |
2: 121,227,533 (GRCm39) |
R546C |
possibly damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,481,161 (GRCm39) |
F303L |
probably benign |
Het |
| Clvs1 |
A |
G |
4: 9,281,751 (GRCm39) |
D65G |
probably damaging |
Het |
| Coq5 |
T |
C |
5: 115,421,776 (GRCm39) |
|
probably null |
Het |
| D630045J12Rik |
A |
T |
6: 38,168,699 (GRCm39) |
V950E |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,175,675 (GRCm39) |
R148Q |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,837,395 (GRCm39) |
D3936G |
possibly damaging |
Het |
| Doc2b |
T |
C |
11: 75,662,786 (GRCm39) |
E404G |
probably damaging |
Het |
| Dsg1b |
C |
T |
18: 20,532,596 (GRCm39) |
P547S |
probably benign |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,768 (GRCm39) |
C51S |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,532,540 (GRCm39) |
Y356H |
probably damaging |
Het |
| Galnt6 |
C |
T |
15: 100,595,106 (GRCm39) |
R465Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,207,037 (GRCm39) |
S69P |
probably damaging |
Het |
| Gdpd4 |
T |
C |
7: 97,655,507 (GRCm39) |
V562A |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,758,727 (GRCm39) |
V663D |
probably damaging |
Het |
| Gtf3c3 |
A |
T |
1: 54,455,085 (GRCm39) |
S593T |
probably benign |
Het |
| H2-Eb1 |
T |
C |
17: 34,528,807 (GRCm39) |
S113P |
probably benign |
Het |
| Herc3 |
C |
T |
6: 58,834,712 (GRCm39) |
R240C |
probably damaging |
Het |
| Iqub |
T |
C |
6: 24,505,620 (GRCm39) |
D96G |
probably benign |
Het |
| Irag1 |
C |
T |
7: 110,545,209 (GRCm39) |
C29Y |
possibly damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,502,481 (GRCm39) |
E858D |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,571,302 (GRCm39) |
I165N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,353,643 (GRCm39) |
R539K |
probably damaging |
Het |
| Lrrc10 |
C |
A |
10: 116,881,805 (GRCm39) |
P160T |
probably damaging |
Het |
| Map3k12 |
G |
T |
15: 102,412,300 (GRCm39) |
D280E |
probably benign |
Het |
| Mcub |
T |
C |
3: 129,710,658 (GRCm39) |
E258G |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,765,664 (GRCm39) |
S5208P |
probably benign |
Het |
| Med20 |
C |
A |
17: 47,934,069 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
C |
2: 128,580,227 (GRCm39) |
V227A |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,908,717 (GRCm39) |
|
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,307,315 (GRCm39) |
|
probably null |
Het |
| Nfyc |
A |
G |
4: 120,647,686 (GRCm39) |
|
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nt5dc1 |
C |
T |
10: 34,279,691 (GRCm39) |
C117Y |
probably benign |
Het |
| Nup88 |
A |
T |
11: 70,834,896 (GRCm39) |
|
probably benign |
Het |
| Or6z7 |
C |
T |
7: 6,483,325 (GRCm39) |
V277M |
probably benign |
Het |
| Pbrm1 |
T |
A |
14: 30,757,949 (GRCm39) |
I193K |
probably benign |
Het |
| Pcsk2 |
T |
C |
2: 143,591,165 (GRCm39) |
|
probably benign |
Het |
| Pdzd2 |
A |
T |
15: 12,592,436 (GRCm39) |
C69* |
probably null |
Het |
| Polr1e |
A |
G |
4: 45,018,723 (GRCm39) |
T18A |
probably benign |
Het |
| Prima1 |
T |
A |
12: 103,166,163 (GRCm39) |
I124F |
probably benign |
Het |
| Rbm34 |
T |
C |
8: 127,676,169 (GRCm39) |
K382R |
probably benign |
Het |
| Rftn1 |
T |
G |
17: 50,354,435 (GRCm39) |
N309T |
probably damaging |
Het |
| Septin1 |
C |
T |
7: 126,814,598 (GRCm39) |
D260N |
probably damaging |
Het |
| Serpina3g |
T |
C |
12: 104,207,299 (GRCm39) |
V154A |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,609,606 (GRCm39) |
N1306K |
probably damaging |
Het |
| Stk4 |
T |
C |
2: 163,921,486 (GRCm39) |
F29S |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,645,490 (GRCm39) |
|
probably benign |
Het |
| Tbl3 |
T |
C |
17: 24,919,733 (GRCm39) |
T774A |
probably benign |
Het |
| Tinag |
A |
G |
9: 76,952,694 (GRCm39) |
Y97H |
probably damaging |
Het |
| Usp17lb |
T |
C |
7: 104,489,847 (GRCm39) |
E359G |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,763 (GRCm39) |
E810G |
probably damaging |
Het |
| Vwce |
A |
T |
19: 10,635,402 (GRCm39) |
T633S |
possibly damaging |
Het |
| Ylpm1 |
G |
A |
12: 85,075,627 (GRCm39) |
R326H |
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 |
|
|
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'- ATCAGTCTAACTCTCGCGC -3'
(R):5'- TTGGCTGTCCTAAGGAATGCG -3'
Sequencing Primer
(F):5'- ATCAGTCTAACTCTCGCGCTTCTC -3'
(R):5'- CCCCTGGGAAAGTACATATCAGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation