Mutagenetix > Incidental Mutation

Incidental Mutation 'R1137:Tpm1'

95179

Institutional Source

Beutler Lab

Gene Symbol

Tpm1

Ensembl Gene

ENSMUSG00000032366

Gene Name

tropomyosin 1, alpha

Synonyms

TM2, Tpm-1, alpha-TM, Tm3

MMRRC Submission

039210-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1137 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66929872-66956688 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 66938400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109337 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030185] [ENSMUST00000030185] [ENSMUST00000034928] [ENSMUST00000034928] [ENSMUST00000050905] [ENSMUST00000113684] [ENSMUST00000113684] [ENSMUST00000113685] [ENSMUST00000113686] [ENSMUST00000113686] [ENSMUST00000113687] [ENSMUST00000113687] [ENSMUST00000139046] [ENSMUST00000113696] [ENSMUST00000113696] [ENSMUST00000113693] [ENSMUST00000113693] [ENSMUST00000113701] [ENSMUST00000113701] [ENSMUST00000113689] [ENSMUST00000113689] [ENSMUST00000113707] [ENSMUST00000113697] [ENSMUST00000113697] [ENSMUST00000113695] [ENSMUST00000113695] [ENSMUST00000113705] [ENSMUST00000129733] [ENSMUST00000113690] [ENSMUST00000113690]

AlphaFold

P58771

Predicted Effect

probably null
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: 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 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 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: 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: 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 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

noncoding transcript
Transcript: ENSMUST00000131279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129466

Predicted Effect

probably benign
Transcript: ENSMUST00000139046

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: 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: 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: 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: 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: 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: 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: 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: 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 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: 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: 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: 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: 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: 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 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: 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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	T	A	7: 43,900,256 (GRCm39)	S54T	probably benign	Het
Ahdc1	A	G	4: 132,789,424 (GRCm39)	T222A	possibly damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Cep250	A	G	2: 155,832,760 (GRCm39)	K1561E	probably benign	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Clca4a	A	G	3: 144,676,446 (GRCm39)	V78A	probably damaging	Het
Clec4n	G	A	6: 123,223,526 (GRCm39)	M170I	possibly damaging	Het
Cp	G	T	3: 20,033,116 (GRCm39)	A648S	probably benign	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dnah8	A	G	17: 31,074,910 (GRCm39)	D4543G	probably damaging	Het
Elp3	A	G	14: 65,785,370 (GRCm39)	V477A	probably damaging	Het
Exoc6b	A	G	6: 84,885,205 (GRCm39)	S245P	probably benign	Het
Fkbp9	G	T	6: 56,837,682 (GRCm39)	G312V	probably damaging	Het
Htr4	A	G	18: 62,570,624 (GRCm39)	I226M	probably damaging	Het
Impa2	G	A	18: 67,451,497 (GRCm39)	V264I	probably benign	Het
Kif20b	T	C	19: 34,914,486 (GRCm39)		probably null	Het
Kmt2c	C	A	5: 25,515,981 (GRCm39)	V2621F	possibly damaging	Het
Lif	A	G	11: 4,219,237 (GRCm39)	D172G	probably damaging	Het
Llgl1	C	A	11: 60,595,559 (GRCm39)	H82N	probably benign	Het
Lrwd1	T	C	5: 136,162,273 (GRCm39)	I162M	probably benign	Het
Mdn1	T	A	4: 32,694,511 (GRCm39)	I1078N	probably damaging	Het
Muc1	A	T	3: 89,137,745 (GRCm39)	T196S	probably benign	Het
Myh7b	T	C	2: 155,464,634 (GRCm39)	L657P	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Ppp1cb	T	C	5: 32,645,015 (GRCm39)	M55T	probably damaging	Het
Ppp1r9a	T	C	6: 5,159,697 (GRCm39)	M1078T	possibly damaging	Het
Rarg	T	C	15: 102,149,595 (GRCm39)	T125A	probably damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Slc5a7	G	A	17: 54,600,039 (GRCm39)	R125C	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tigit	G	T	16: 43,469,485 (GRCm39)	T202N	probably benign	Het
Tmem132b	C	T	5: 125,860,606 (GRCm39)	A617V	possibly damaging	Het
Ubr3	A	G	2: 69,768,659 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,852,422 (GRCm39)	D846V	probably damaging	Het
Vmn1r16	T	G	6: 57,300,221 (GRCm39)	N134H	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
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
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

Posted On

2014-01-05